ACACA (acetyl-CoA carboxylase alpha) - Rat Genome Database

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Gene: ACACA (acetyl-CoA carboxylase alpha) Homo sapiens
Analyze
Symbol: ACACA
Name: acetyl-CoA carboxylase alpha
RGD ID: 736015
HGNC Page HGNC
Description: Enables acetyl-CoA carboxylase activity and identical protein binding activity. Predicted to be involved in acetyl-CoA metabolic process; fatty acid biosynthetic process; and protein homotetramerization. Predicted to act upstream of or within several processes, including cellular response to prostaglandin E stimulus; lipid homeostasis; and tissue homeostasis. Located in actin cytoskeleton; cytosol; and fibrillar center.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACAC; ACACAD; ACC; ACC-alpha; ACC1; ACCA; acetyl-CoA carboxylase 1; acetyl-CoA carboxylase-alpha; acetyl-Coenzyme A carboxylase alpha
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1737,084,992 - 37,406,836 (-)EnsemblGRCh38hg38GRCh38
GRCh381737,084,992 - 37,406,836 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371735,441,927 - 35,766,927 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361732,516,040 - 32,841,015 (-)NCBINCBI36hg18NCBI36
Build 341732,516,039 - 32,841,015NCBI
Celera1732,264,387 - 32,589,361 (-)NCBI
Cytogenetic Map17q12NCBI
HuRef1731,378,027 - 31,583,939 (-)NCBIHuRef
HuRef1731,594,734 - 31,704,859 (-)NCBIHuRef
CHM1_11735,476,555 - 35,798,374 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (ISO)
(S)-nicotine  (ISO)
1,2,3,4,6-pentakis-O-galloyl-beta-D-glucose  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dichloropropan-2-ol  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2,2-tetramine  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (EXP)
2-hydroxypropanoic acid  (EXP)
2-methylcholine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3',5-triiodo-L-thyronine  (EXP,ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
4,4'-sulfonyldiphenol  (ISO)
4-tert-Octylphenol  (ISO)
5-(2-chloroethyl)-4-methylthiazole  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime  (EXP)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (ISO)
6-propyl-2-thiouracil  (ISO)
9-oxononanoic acid  (ISO)
acadesine  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aflatoxin B2  (EXP)
AICA ribonucleotide  (EXP,ISO)
aldehydo-D-glucosamine  (EXP)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-linolenic acid  (ISO)
alpha-pinene  (EXP)
amiodarone  (EXP,ISO)
amlexanox  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (ISO)
atrazine  (ISO)
azoxystrobin  (EXP,ISO)
benzbromarone  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
benzylpenicillin  (ISO)
beta-D-glucosamine  (EXP)
bexarotene  (ISO)
bezafibrate  (ISO)
biguanides  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
buspirone  (ISO)
Butylbenzyl phthalate  (ISO)
C60 fullerene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
capsazepine  (ISO)
carbendazim  (ISO)
carbon nanotube  (ISO)
chenodeoxycholic acid  (ISO)
Chicoric acid  (ISO)
chloroethene  (ISO)
chlorpromazine  (ISO)
chlorpyrifos  (ISO)
cholesterol  (ISO)
choline  (ISO)
cis-caffeic acid  (EXP)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
clofazimine  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
colforsin daropate hydrochloride  (ISO)
corticosterone  (ISO)
cortisol  (EXP)
crizotinib  (EXP)
curcumin  (EXP,ISO)
cyanocob(III)alamin  (ISO)
cyclosporin A  (EXP,ISO)
D-glucose  (EXP,ISO)
DDE  (ISO)
deoxypodophyllotoxin  (EXP,ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (ISO)
dichloroacetic acid  (ISO)
dicrotophos  (EXP)
diethyl maleate  (ISO)
Diosbulbin B  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP,ISO)
doxorubicin  (EXP)
duvoglustat  (ISO)
endosulfan  (ISO)
erlotinib hydrochloride  (EXP)
erythromycin A  (ISO)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
fenofibrate  (EXP,ISO)
fipronil  (ISO)
flavonoids  (ISO)
fluoxetine  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fructose  (EXP,ISO)
furan  (ISO)
gadolinium trichloride  (ISO)
Ganoderic acid A  (EXP,ISO)
Gastrodin  (ISO)
geraniol  (ISO)
glafenine  (ISO)
glucose  (EXP,ISO)
glycine betaine  (ISO)
glyphosate  (ISO)
guggulsterone  (ISO)
GW 4064  (EXP)
hexadecanoic acid  (EXP,ISO)
Honokiol  (ISO)
hydrogen peroxide  (EXP,ISO)
indometacin  (EXP)
irinotecan  (EXP)
isoprenaline  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP,ISO)
L-ethionine  (ISO)
L-methionine  (ISO)
linoleic acid  (ISO)
lipopolysaccharide  (ISO)
liraglutide  (ISO)
lithocholic acid  (ISO)
lovastatin  (ISO)
mangiferin  (ISO)
metformin  (EXP,ISO)
methapyrilene  (EXP,ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (ISO)
miconazole  (ISO)
microcystin-LR  (ISO)
monocrotophos  (ISO)
monosodium L-glutamate  (ISO)
myriocin  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
naringin  (ISO)
nefazodone  (ISO)
niclosamide  (EXP)
nicotinamide  (EXP,ISO)
nicotine  (ISO)
nilotinib  (EXP)
nimesulide  (ISO)
obeticholic acid  (EXP)
olanzapine  (ISO)
olaparib  (ISO)
oleic acid  (EXP)
omeprazole  (ISO)
orlistat  (EXP)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
p-tert-Amylphenol  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
penconazole  (ISO)
perfluorobutanesulfonic acid  (ISO)
perfluorobutyric acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenformin  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
platycodin D  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propamocarb  (ISO)
protein kinase inhibitor  (EXP)
puerarin  (ISO)
pyruvic acid  (EXP)
quercetin  (EXP,ISO)
rac-lactic acid  (EXP)
raffinose  (EXP,ISO)
resveratrol  (EXP,ISO)
rifampicin  (ISO)
rimonabant  (ISO)
rotenone  (ISO)
rubimaillin  (EXP)
ruthenium red  (ISO)
S-allylcysteine  (EXP)
SB 431542  (EXP)
scopoletin  (ISO)
silibinin  (EXP,ISO)
sirtinol  (EXP)
sodium arsenite  (ISO)
splitomicin  (EXP)
steviol  (ISO)
streptozocin  (ISO)
sucrose  (ISO)
sulindac  (EXP)
sunitinib  (EXP)
taurine  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
tetrathiomolybdate(2-)  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trametinib  (EXP)
trans-caffeic acid  (EXP)
triacsin C  (ISO)
triazines  (ISO)
tributylstannane  (ISO)
Tributyltin oxide  (ISO)
triclocarban  (ISO)
triolein  (ISO)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
trovafloxacin  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
ursolic acid  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vemurafenib  (EXP)
vinclozolin  (ISO)
WIN 55212-2  (EXP)
zidovudine  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
actin cytoskeleton  (IDA)
cytosol  (IDA,ISS,TAS)
fibrillar center  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:2900138   PMID:2900140   PMID:2906852   PMID:7732023   PMID:7905825   PMID:7907095   PMID:7915280   PMID:8944226   PMID:10677481   PMID:10737800   PMID:11052978   PMID:12360400  
PMID:12477932   PMID:12810950   PMID:14643797   PMID:14744259   PMID:15302935   PMID:15333468   PMID:15607423   PMID:16169070   PMID:16326698   PMID:16698035   PMID:16713569   PMID:16794074  
PMID:16806233   PMID:17081983   PMID:17353931   PMID:17372234   PMID:17521700   PMID:17620599   PMID:17631500   PMID:18031993   PMID:18056116   PMID:18303054   PMID:18452305   PMID:18455495  
PMID:18480843   PMID:18487259   PMID:18614941   PMID:18614968   PMID:18660489   PMID:18678647   PMID:18996102   PMID:19061860   PMID:19343720   PMID:19380743   PMID:19543203   PMID:19710915  
PMID:19720090   PMID:19723093   PMID:19738201   PMID:19759019   PMID:19842072   PMID:19846279   PMID:19913121   PMID:20139635   PMID:20379614   PMID:20431927   PMID:20457939   PMID:20562859  
PMID:20602615   PMID:20628086   PMID:20877624   PMID:20952656   PMID:20965718   PMID:21344388   PMID:21471234   PMID:21532586   PMID:21638027   PMID:21642987   PMID:21726077   PMID:22238651  
PMID:22268729   PMID:22586326   PMID:22658674   PMID:22863883   PMID:22939629   PMID:23000302   PMID:23181366   PMID:23376485   PMID:23383273   PMID:23455922   PMID:23535730   PMID:23886516  
PMID:24457600   PMID:24565757   PMID:24797263   PMID:24798327   PMID:24924473   PMID:24981860   PMID:24999842   PMID:25099943   PMID:25192599   PMID:25246709   PMID:25315684   PMID:25921289  
PMID:26186194   PMID:26344197   PMID:26362536   PMID:26452058   PMID:26496610   PMID:26725010   PMID:26972000   PMID:26976583   PMID:27182664   PMID:27499296   PMID:27684187   PMID:27693630  
PMID:27983949   PMID:28081256   PMID:28290443   PMID:28514442   PMID:28515276   PMID:28611215   PMID:28700943   PMID:28718761   PMID:28768177   PMID:29056512   PMID:29117863   PMID:29197582  
PMID:29343429   PMID:29467282   PMID:29485247   PMID:29507755   PMID:29509190   PMID:29540532   PMID:29615496   PMID:29676528   PMID:29772612   PMID:29899443   PMID:29955894   PMID:30021884  
PMID:30224337   PMID:30257991   PMID:30349055   PMID:30455355   PMID:30463901   PMID:30496542   PMID:30575818   PMID:30948266   PMID:30997501   PMID:31091453   PMID:31152661   PMID:31300519  
PMID:31306022   PMID:31325544   PMID:31452512   PMID:31586073   PMID:31620119   PMID:31980649   PMID:31995728   PMID:32236577   PMID:32239614   PMID:32296183   PMID:32513696   PMID:32529326  
PMID:32694731   PMID:32941674   PMID:33005030   PMID:33499275  


Genomics

Comparative Map Data
ACACA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1737,084,992 - 37,406,836 (-)EnsemblGRCh38hg38GRCh38
GRCh381737,084,992 - 37,406,836 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371735,441,927 - 35,766,927 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361732,516,040 - 32,841,015 (-)NCBINCBI36hg18NCBI36
Build 341732,516,039 - 32,841,015NCBI
Celera1732,264,387 - 32,589,361 (-)NCBI
Cytogenetic Map17q12NCBI
HuRef1731,378,027 - 31,583,939 (-)NCBIHuRef
HuRef1731,594,734 - 31,704,859 (-)NCBIHuRef
CHM1_11735,476,555 - 35,798,374 (-)NCBICHM1_1
Acaca
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391184,020,461 - 84,292,477 (+)NCBIGRCm39mm39
GRCm39 Ensembl1184,020,498 - 84,292,477 (+)Ensembl
GRCm381184,129,635 - 84,401,651 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1184,129,672 - 84,401,651 (+)EnsemblGRCm38mm10GRCm38
MGSCv371184,008,940 - 84,215,153 (+)NCBIGRCm37mm9NCBIm37
MGSCv361184,011,659 - 84,215,878 (+)NCBImm8
Celera1193,804,708 - 94,012,980 (+)NCBICelera
Cytogenetic Map11CNCBI
Acaca
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21069,014,261 - 69,276,453 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1069,014,170 - 69,276,457 (+)Ensembl
Rnor_6.01071,519,392 - 71,719,910 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1071,536,533 - 71,719,910 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01071,431,885 - 71,630,271 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41072,483,772 - 72,677,134 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11072,498,141 - 72,691,504 (+)NCBI
Celera1068,011,070 - 68,201,435 (+)NCBICelera
Cytogenetic Map10q26NCBI
Acaca
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955451600,254 - 909,892 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955451679,033 - 909,892 (+)NCBIChiLan1.0ChiLan1.0
ACACA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11719,969,199 - 20,297,651 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1719,969,205 - 20,297,651 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01719,670,114 - 19,998,903 (+)NCBIMhudiblu_PPA_v0panPan3
ACACA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1936,904,204 - 37,188,096 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl936,905,293 - 37,187,892 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha936,128,994 - 36,412,715 (-)NCBI
ROS_Cfam_1.0937,714,414 - 37,998,482 (-)NCBI
UMICH_Zoey_3.1936,495,840 - 36,779,686 (-)NCBI
UNSW_CanFamBas_1.0936,783,386 - 37,067,528 (-)NCBI
UU_Cfam_GSD_1.0936,870,310 - 37,154,200 (-)NCBI
Acaca
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560235,883,567 - 36,147,281 (-)NCBI
SpeTri2.0NW_004936490927,769 - 1,191,483 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACACA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1238,581,449 - 38,875,134 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11238,580,916 - 38,875,067 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21240,200,228 - 40,401,426 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACACA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11630,374,166 - 30,704,635 (+)NCBI
ChlSab1.1 Ensembl1630,452,343 - 30,705,004 (+)Ensembl
Vero_WHO_p1.0NW_0236660771,098,931 - 1,432,102 (+)NCBI
Acaca
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248714,103,014 - 4,364,690 (-)NCBI

Position Markers
A009J24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,501,884 - 35,502,005UniSTSGRCh37
Build 361732,575,997 - 32,576,118RGDNCBI36
Celera1732,324,424 - 32,324,545RGD
Cytogenetic Map17q21UniSTS
HuRef1731,438,036 - 31,438,157UniSTS
GeneMap99-GB4 RH Map17299.68UniSTS
WI-11525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,655,850 - 35,656,000UniSTSGRCh37
Build 361732,729,963 - 32,730,113RGDNCBI36
Celera1732,478,401 - 32,478,551RGD
Cytogenetic Map17q21UniSTS
HuRef1731,594,400 - 31,594,550UniSTS
GeneMap99-GB4 RH Map17300.0UniSTS
Whitehead-RH Map17325.7UniSTS
NCBI RH Map17427.7UniSTS
SHGC-31900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,441,950 - 35,442,074UniSTSGRCh37
Build 361732,516,063 - 32,516,187RGDNCBI36
Celera1732,264,410 - 32,264,534RGD
Cytogenetic Map17q21UniSTS
HuRef1731,378,050 - 31,378,174UniSTS
GeneMap99-GB4 RH Map17300.28UniSTS
Whitehead-RH Map17325.7UniSTS
NCBI RH Map17429.7UniSTS
RH98496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,553,969 - 35,554,093UniSTSGRCh37
Build 361732,628,082 - 32,628,206RGDNCBI36
Celera1732,376,518 - 32,376,642RGD
Cytogenetic Map17q21UniSTS
HuRef1731,489,953 - 31,490,077UniSTS
GeneMap99-GB4 RH Map17300.93UniSTS
SHGC-78675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,455,041 - 35,455,352UniSTSGRCh37
Build 361732,529,154 - 32,529,465RGDNCBI36
Celera1732,277,498 - 32,277,809RGD
Cytogenetic Map17q21UniSTS
HuRef1731,391,139 - 31,391,450UniSTS
TNG Radiation Hybrid Map1716341.0UniSTS
G60122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,667,008 - 35,667,206UniSTSGRCh37
Build 361732,741,121 - 32,741,319RGDNCBI36
Celera1732,489,558 - 32,489,756RGD
Cytogenetic Map17q21UniSTS
HuRef1731,605,557 - 31,605,755UniSTS
TNG Radiation Hybrid Map1715912.0UniSTS
G54157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,647,085 - 35,647,217UniSTSGRCh37
GRCh371912,804,224 - 12,804,461UniSTSGRCh37
Build 361732,721,198 - 32,721,330RGDNCBI36
Celera1732,469,653 - 32,469,785RGD
Celera1912,693,938 - 12,694,175UniSTS
HuRef1731,583,047 - 31,583,179UniSTS
HuRef7101,656,836 - 101,657,127UniSTS
HuRef1912,377,219 - 12,377,440UniSTS
D17S107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,572,933 - 35,573,171UniSTSGRCh37
Build 361732,647,046 - 32,647,284RGDNCBI36
Celera1732,395,480 - 32,395,718RGD
Cytogenetic Map17q21UniSTS
HuRef1731,508,950 - 31,509,186UniSTS
D17S1255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,609,826 - 35,609,934UniSTSGRCh37
Build 361732,683,939 - 32,684,047RGDNCBI36
Celera1732,432,363 - 32,432,471RGD
Cytogenetic Map17q21UniSTS
HuRef1731,545,764 - 31,545,872UniSTS
D17S1515E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,441,970 - 35,442,099UniSTSGRCh37
Build 361732,516,083 - 32,516,212RGDNCBI36
Celera1732,264,430 - 32,264,559RGD
Cytogenetic Map17q21UniSTS
HuRef1731,378,070 - 31,378,199UniSTS
SHGC-105835  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,556,320 - 35,556,627UniSTSGRCh37
Build 361732,630,433 - 32,630,740RGDNCBI36
Celera1732,378,869 - 32,379,176RGD
Cytogenetic Map17q21UniSTS
HuRef1731,492,304 - 31,492,611UniSTS
TNG Radiation Hybrid Map1715853.0UniSTS
SHGC-106779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,578,834 - 35,579,163UniSTSGRCh37
Build 361732,652,947 - 32,653,276RGDNCBI36
Celera1732,401,381 - 32,401,710RGD
Cytogenetic Map17q21UniSTS
HuRef1731,514,844 - 31,515,173UniSTS
TNG Radiation Hybrid Map1715884.0UniSTS
D17S2161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,467,042 - 35,467,172UniSTSGRCh37
Build 361732,541,155 - 32,541,285RGDNCBI36
Celera1732,289,554 - 32,289,684RGD
Cytogenetic Map17q21UniSTS
HuRef1731,403,200 - 31,403,330UniSTS
WI-14928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,501,777 - 35,501,905UniSTSGRCh37
Build 361732,575,890 - 32,576,018RGDNCBI36
Celera1732,324,317 - 32,324,445RGD
Cytogenetic Map17q21UniSTS
HuRef1731,437,929 - 31,438,057UniSTS
GeneMap99-GB4 RH Map17298.1UniSTS
Whitehead-RH Map17324.9UniSTS
RH17508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,576,983 - 35,577,121UniSTSGRCh37
Build 361732,651,096 - 32,651,234RGDNCBI36
Celera1732,399,530 - 32,399,668RGD
Cytogenetic Map17q21UniSTS
HuRef1731,512,997 - 31,513,135UniSTS
GeneMap99-GB4 RH Map17300.93UniSTS
NCBI RH Map17434.7UniSTS
ACACA_8187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,441,905 - 35,442,805UniSTSGRCh37
Build 361732,516,018 - 32,516,918RGDNCBI36
Celera1732,264,365 - 32,265,265RGD
HuRef1731,378,005 - 31,378,905UniSTS
D17S1354E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,551,233 - 35,551,324UniSTSGRCh37
GRCh371735,551,236 - 35,551,312UniSTSGRCh37
Build 361732,625,346 - 32,625,437RGDNCBI36
Celera1732,373,785 - 32,373,861UniSTS
Celera1732,373,782 - 32,373,873RGD
Cytogenetic Map17q21UniSTS
HuRef1731,487,217 - 31,487,308UniSTS
HuRef1731,487,220 - 31,487,296UniSTS
GeneMap99-GB4 RH Map17302.36UniSTS
NCBI RH Map17375.7UniSTS
G09844  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,491,077 - 35,491,216UniSTSGRCh37
Build 361732,565,190 - 32,565,329RGDNCBI36
Celera1732,313,617 - 32,313,756RGD
Cytogenetic Map17q21UniSTS
HuRef1731,427,228 - 31,427,367UniSTS
Cda0ce05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,441,983 - 35,442,132UniSTSGRCh37
Build 361732,516,096 - 32,516,245RGDNCBI36
Celera1732,264,443 - 32,264,592RGD
Cytogenetic Map17q21UniSTS
HuRef1731,378,083 - 31,378,232UniSTS
GeneMap99-GB4 RH Map17298.97UniSTS
D19S1171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371916,898,966 - 16,899,179UniSTSGRCh37
Build 361916,759,966 - 16,760,179RGDNCBI36
Celera1916,800,503 - 16,800,713RGD
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q21UniSTS
HuRef1731,621,662 - 31,623,273UniSTS
HuRef1916,468,111 - 16,468,321UniSTS
Marshfield Genetic Map1944.41UniSTS
G19724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,442,088 - 35,442,227UniSTSGRCh37
Build 361732,516,201 - 32,516,340RGDNCBI36
Celera1732,264,548 - 32,264,687RGD
Cytogenetic Map17q21UniSTS
HuRef1731,378,188 - 31,378,327UniSTS
A001W36  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,442,088 - 35,442,227UniSTSGRCh37
Build 361732,516,201 - 32,516,340RGDNCBI36
Celera1732,264,548 - 32,264,687RGD
Cytogenetic Map17q21UniSTS
HuRef1731,378,188 - 31,378,327UniSTS
GeneMap99-GB4 RH Map17298.97UniSTS
G32583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371735,501,884 - 35,502,005UniSTSGRCh37
Celera1732,324,424 - 32,324,545UniSTS
Cytogenetic Map17q21UniSTS
HuRef1731,438,036 - 31,438,157UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:10133
Count of miRNA genes:1351
Interacting mature miRNAs:1803
Transcripts:ENST00000335166, ENST00000353139, ENST00000360679, ENST00000361253, ENST00000394403, ENST00000394406, ENST00000413318, ENST00000416895, ENST00000451642, ENST00000456066, ENST00000456561, ENST00000586621, ENST00000586821, ENST00000587233, ENST00000587545, ENST00000587598, ENST00000587653, ENST00000587720, ENST00000588142, ENST00000589665, ENST00000590888, ENST00000591119, ENST00000591148, ENST00000592243, ENST00000592427, ENST00000593055
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1397 649 830 151 588 70 2509 921 2608 84 1134 833 94 573 1506 3
Low 954 2178 654 282 1046 205 1809 1256 1056 98 126 630 77 631 1282 1
Below cutoff 157 141 16

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB371587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC003103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC244093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ534888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ534889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ564444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY237919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY315627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF154865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF454424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U19822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000612007   ⟹   ENSP00000484948
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,328,962 - 37,365,568 (-)Ensembl
RefSeq Acc Id: ENST00000612120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,207,730 - 37,225,571 (-)Ensembl
RefSeq Acc Id: ENST00000612895   ⟹   ENSP00000482269
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,084,994 - 37,299,767 (-)Ensembl
RefSeq Acc Id: ENST00000612926
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,247,902 - 37,248,676 (-)Ensembl
RefSeq Acc Id: ENST00000613146
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,221,518 - 37,359,121 (-)Ensembl
RefSeq Acc Id: ENST00000613776
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,087,222 - 37,122,794 (-)Ensembl
RefSeq Acc Id: ENST00000614333
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,360,205 - 37,368,727 (-)Ensembl
RefSeq Acc Id: ENST00000614428   ⟹   ENSP00000478547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,084,994 - 37,359,116 (-)Ensembl
RefSeq Acc Id: ENST00000614438   ⟹   ENSP00000483852
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,328,645 - 37,330,399 (-)Ensembl
RefSeq Acc Id: ENST00000614450
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,200,429 - 37,222,028 (-)Ensembl
RefSeq Acc Id: ENST00000614482   ⟹   ENSP00000480371
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,086,876 - 37,161,835 (-)Ensembl
RefSeq Acc Id: ENST00000614789   ⟹   ENSP00000479621
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,284,838 - 37,359,116 (-)Ensembl
RefSeq Acc Id: ENST00000615229   ⟹   ENSP00000482498
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,274,217 - 37,406,672 (-)Ensembl
RefSeq Acc Id: ENST00000616317   ⟹   ENSP00000483300
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,084,992 - 37,406,836 (-)Ensembl
RefSeq Acc Id: ENST00000616352   ⟹   ENSP00000477912
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,284,838 - 37,406,780 (-)Ensembl
RefSeq Acc Id: ENST00000617548   ⟹   ENSP00000481900
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,284,838 - 37,406,780 (-)Ensembl
RefSeq Acc Id: ENST00000617649   ⟹   ENSP00000482368
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,086,817 - 37,299,767 (-)Ensembl
RefSeq Acc Id: ENST00000618053   ⟹   ENSP00000482064
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,086,880 - 37,088,983 (-)Ensembl
RefSeq Acc Id: ENST00000618351
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,360,233 - 37,406,818 (-)Ensembl
RefSeq Acc Id: ENST00000618575
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,161,600 - 37,188,294 (-)Ensembl
RefSeq Acc Id: ENST00000619245
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,188,303 - 37,193,458 (-)Ensembl
RefSeq Acc Id: ENST00000619546   ⟹   ENSP00000483969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,084,998 - 37,205,812 (-)Ensembl
RefSeq Acc Id: ENST00000621960   ⟹   ENSP00000483696
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1737,277,988 - 37,359,096 (-)Ensembl
RefSeq Acc Id: NM_198834   ⟹   NP_942131
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,406,836 (-)NCBI
GRCh371735,441,927 - 35,766,902 (-)ENTREZGENE
Build 361732,516,040 - 32,841,015 (-)NCBI Archive
HuRef1731,378,027 - 31,583,939 (-)ENTREZGENE
HuRef1731,594,734 - 31,704,859 (-)NCBI
CHM1_11735,476,555 - 35,798,374 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198836   ⟹   NP_942133
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,359,096 (-)NCBI
GRCh371735,441,927 - 35,766,902 (-)ENTREZGENE
Build 361732,516,040 - 32,790,172 (-)NCBI Archive
HuRef1731,378,027 - 31,583,939 (-)ENTREZGENE
HuRef1731,594,734 - 31,704,859 (-)NCBI
CHM1_11735,476,555 - 35,750,679 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198837   ⟹   NP_942134
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,299,767 (-)NCBI
GRCh371735,441,927 - 35,766,902 (-)ENTREZGENE
Build 361732,516,040 - 32,730,805 (-)NCBI Archive
HuRef1731,378,027 - 31,583,939 (-)ENTREZGENE
HuRef1731,594,734 - 31,704,859 (-)NCBI
CHM1_11735,476,555 - 35,691,330 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198838   ⟹   NP_942135
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,299,767 (-)NCBI
GRCh371735,441,927 - 35,766,902 (-)ENTREZGENE
Build 361732,516,040 - 32,730,805 (-)NCBI Archive
HuRef1731,378,027 - 31,583,939 (-)ENTREZGENE
HuRef1731,594,734 - 31,704,859 (-)NCBI
CHM1_11735,476,555 - 35,691,330 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198839   ⟹   NP_942136
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,406,836 (-)NCBI
GRCh371735,441,927 - 35,766,902 (-)ENTREZGENE
Build 361732,516,040 - 32,841,015 (-)NCBI Archive
HuRef1731,378,027 - 31,583,939 (-)ENTREZGENE
HuRef1731,594,734 - 31,704,859 (-)NCBI
CHM1_11735,476,555 - 35,798,374 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005257267   ⟹   XP_005257324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,359,134 (-)NCBI
GRCh371735,441,927 - 35,766,902 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006721853   ⟹   XP_006721916
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,406,822 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524701   ⟹   XP_011523003
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,406,822 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524703   ⟹   XP_011523005
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,359,096 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524704   ⟹   XP_011523006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,359,124 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024553   ⟹   XP_016880042
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,406,822 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024554   ⟹   XP_016880043
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,406,822 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017024555   ⟹   XP_016880044
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,084,992 - 37,365,626 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001752504
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,125,758 - 37,406,822 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_942131 (Get FASTA)   NCBI Sequence Viewer  
  NP_942133 (Get FASTA)   NCBI Sequence Viewer  
  NP_942134 (Get FASTA)   NCBI Sequence Viewer  
  NP_942135 (Get FASTA)   NCBI Sequence Viewer  
  NP_942136 (Get FASTA)   NCBI Sequence Viewer  
  XP_005257324 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721916 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523003 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523005 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523006 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880042 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880043 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880044 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC50139 (Get FASTA)   NCBI Sequence Viewer  
  AAH31485 (Get FASTA)   NCBI Sequence Viewer  
  AAI37288 (Get FASTA)   NCBI Sequence Viewer  
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  AAP94118 (Get FASTA)   NCBI Sequence Viewer  
  AAP94119 (Get FASTA)   NCBI Sequence Viewer  
  AAP94120 (Get FASTA)   NCBI Sequence Viewer  
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  AAP94122 (Get FASTA)   NCBI Sequence Viewer  
  BAD92562 (Get FASTA)   NCBI Sequence Viewer  
  BAG48316 (Get FASTA)   NCBI Sequence Viewer  
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  CAD59556 (Get FASTA)   NCBI Sequence Viewer  
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  EAW57576 (Get FASTA)   NCBI Sequence Viewer  
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  EAW57581 (Get FASTA)   NCBI Sequence Viewer  
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  EAW57583 (Get FASTA)   NCBI Sequence Viewer  
  Q13085 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_942136   ⟸   NM_198839
- Peptide Label: isoform 2
- UniProtKB: Q13085 (UniProtKB/Swiss-Prot),   B2ZZ90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_942135   ⟸   NM_198838
- Peptide Label: isoform 4
- UniProtKB: Q13085 (UniProtKB/Swiss-Prot),   A0A024R0Y2 (UniProtKB/TrEMBL),   Q7Z5W8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_942134   ⟸   NM_198837
- Peptide Label: isoform 3
- UniProtKB: Q13085 (UniProtKB/Swiss-Prot),   Q7Z5W8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_942131   ⟸   NM_198834
- Peptide Label: isoform 1
- UniProtKB: Q13085 (UniProtKB/Swiss-Prot),   B2ZZ90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_942133   ⟸   NM_198836
- Peptide Label: isoform 2
- UniProtKB: Q13085 (UniProtKB/Swiss-Prot),   B2ZZ90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005257324   ⟸   XM_005257267
- Peptide Label: isoform X6
- UniProtKB: A0A024R0Y2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006721916   ⟸   XM_006721853
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011523003   ⟸   XM_011524701
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011523006   ⟸   XM_011524704
- Peptide Label: isoform X6
- UniProtKB: A0A024R0Y2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523005   ⟸   XM_011524703
- Peptide Label: isoform X5
- UniProtKB: Q13085 (UniProtKB/Swiss-Prot),   B2ZZ90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880043   ⟸   XM_017024554
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016880042   ⟸   XM_017024553
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016880044   ⟸   XM_017024555
- Peptide Label: isoform X5
- UniProtKB: Q13085 (UniProtKB/Swiss-Prot),   B2ZZ90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000483696   ⟸   ENST00000621960
RefSeq Acc Id: ENSP00000484948   ⟸   ENST00000612007
RefSeq Acc Id: ENSP00000482269   ⟸   ENST00000612895
RefSeq Acc Id: ENSP00000479621   ⟸   ENST00000614789
RefSeq Acc Id: ENSP00000483852   ⟸   ENST00000614438
RefSeq Acc Id: ENSP00000478547   ⟸   ENST00000614428
RefSeq Acc Id: ENSP00000480371   ⟸   ENST00000614482
RefSeq Acc Id: ENSP00000482498   ⟸   ENST00000615229
RefSeq Acc Id: ENSP00000477912   ⟸   ENST00000616352
RefSeq Acc Id: ENSP00000483300   ⟸   ENST00000616317
RefSeq Acc Id: ENSP00000482368   ⟸   ENST00000617649
RefSeq Acc Id: ENSP00000481900   ⟸   ENST00000617548
RefSeq Acc Id: ENSP00000482064   ⟸   ENST00000618053
RefSeq Acc Id: ENSP00000483969   ⟸   ENST00000619546
Promoters
RGD ID:6815195
Promoter ID:HG_MRA:6669
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AK129523,   BC041598
Position:
Human AssemblyChrPosition (strand)Source
Build 361732,517,021 - 32,517,521 (-)MPROMDB
RGD ID:6793707
Promoter ID:HG_KWN:25876
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000394403,   NM_198836,   UC010CUZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361732,789,976 - 32,790,637 (-)MPROMDB
RGD ID:6793719
Promoter ID:HG_KWN:25879
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000361253,   ENST00000394395,   NM_001488,   NM_133439,   NM_198839,   OTTHUMT00000256676,   OTTHUMT00000256692,   OTTHUMT00000256693,   UC002HNQ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361732,840,671 - 32,841,527 (-)MPROMDB
RGD ID:7234741
Promoter ID:EPDNEW_H23116
Type:initiation region
Name:ACACA_1
Description:acetyl-CoA carboxylase alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23118  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,359,096 - 37,359,156EPDNEW
RGD ID:7234745
Promoter ID:EPDNEW_H23118
Type:initiation region
Name:ACACA_2
Description:acetyl-CoA carboxylase alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23116  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381737,406,833 - 37,406,893EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
NM_198834.2(ACACA):c.4932+788A>T single nucleotide variant Lung cancer [RCV000100441] Chr17:37180413 [GRCh38]
Chr17:35537354 [GRCh37]
Chr17:17q12
uncertain significance
NM_198834.2(ACACA):c.3246+328A>T single nucleotide variant Lung cancer [RCV000100442] Chr17:37234647 [GRCh38]
Chr17:35591562 [GRCh37]
Chr17:17q12
uncertain significance
NM_198834.2(ACACA):c.38+5810A>T single nucleotide variant Lung cancer [RCV000100443] Chr17:37400452 [GRCh38]
Chr17:35760542 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q12(chr17:34508117-36248918)x3 copy number gain See cases [RCV000050286] Chr17:34508117..36248918 [GRCh37]
Chr17:31474518..33323031 [NCBI36]
Chr17:17q12
pathogenic|conflicting data from submitters
GRCh37/hg19 17q12(chr17:34856055-36248918)x1 copy number loss See cases [RCV000050449] Chr17:34856055..36248918 [GRCh37]
Chr17:31930168..33323031 [NCBI36]
Chr17:17q12
pathogenic
GRCh38/hg38 17q12(chr17:36500215-37889296)x3 copy number gain See cases [RCV000050448] Chr17:36500215..37889296 [GRCh38]
Chr17:34856055..36248918 [GRCh37]
Chr17:31930168..33323031 [NCBI36]
Chr17:17q12
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh37/hg19 17q12(chr17:34611352-36248918)x3 copy number gain See cases [RCV000051076] Chr17:34611352..36248918 [GRCh37]
Chr17:31635465..33323031 [NCBI36]
Chr17:17q12
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 17q12(chr17:36357258-37889296)x1 copy number loss See cases [RCV000051077] Chr17:36357258..37889296 [GRCh38]
Chr17:34611352..36248918 [GRCh37]
Chr17:31635465..33323031 [NCBI36]
Chr17:17q12
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q12(chr17:36422657-37890225)x1 copy number loss See cases [RCV000054376] Chr17:36422657..37890225 [GRCh38]
Chr17:34768966..36263019 [GRCh37]
Chr17:31843079..33373530 [NCBI36]
Chr17:17q12
pathogenic
GRCh38/hg38 17q12(chr17:36493974-37890225)x1 copy number loss See cases [RCV000054378] Chr17:36493974..37890225 [GRCh38]
Chr17:34849818..36263019 [GRCh37]
Chr17:31923931..33346418 [NCBI36]
Chr17:17q12
pathogenic
GRCh38/hg38 17q12(chr17:36500015-37889437)x3 copy number gain See cases [RCV000054380] Chr17:36500015..37889437 [GRCh38]
Chr17:34855855..36249059 [GRCh37]
Chr17:31929968..33323172 [NCBI36]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34855855-36249059)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054381]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054381]|See cases [RCV000054381] Chr17:34855855..36249059 [GRCh37]
Chr17:31929968..33323172 [NCBI36]
Chr17:17q12
pathogenic
NM_198837.1(ACACA):c.5818C>T (p.Pro1940Ser) single nucleotide variant Malignant melanoma [RCV000071428] Chr17:37122566 [GRCh38]
Chr17:35479488 [GRCh37]
Chr17:32553601 [NCBI36]
Chr17:17q12
not provided
NM_198837.1(ACACA):c.5817C>A (p.Ile1939=) single nucleotide variant Malignant melanoma [RCV000071429] Chr17:37122567 [GRCh38]
Chr17:35479489 [GRCh37]
Chr17:32553602 [NCBI36]
Chr17:17q12
not provided
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
GRCh37/hg19 17q12(chr17:34817422-36243028) copy number gain Positional foot deformity [RCV001291945] Chr17:34817422..36243028 [GRCh37]
Chr17:17q12
pathogenic
NM_198834.3(ACACA):c.455del (p.Asn152fs) deletion Acetyl-CoA: carboxylase deficiency [RCV001331953] Chr17:37284854 [GRCh38]
Chr17:35641755 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34450405-36248918)x1 copy number loss See cases [RCV000133661] Chr17:34450405..36248918 [GRCh37]
Chr17:31474518..33323031 [NCBI36]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:35076189-36248926)x1 copy number loss See cases [RCV000134125] Chr17:35076189..36248926 [GRCh37]
Chr17:32150302..33323039 [NCBI36]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34508117-36248918)x3 copy number gain See cases [RCV000148166] Chr17:34508117..36248918 [GRCh37]
Chr17:31474518..33323031 [NCBI36]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34817422-36188700)x1 copy number loss See cases [RCV000137917] Chr17:34817422..36188700 [GRCh37]
Chr17:31891535..33262813 [NCBI36]
Chr17:17q12
pathogenic
GRCh38/hg38 17q12(chr17:36446545-38225796)x1 copy number loss See cases [RCV000137918] Chr17:36446545..38225796 [GRCh38]
Chr17:34817422..36263019 [GRCh37]
Chr17:31891535..33635633 [NCBI36]
Chr17:17q12
pathogenic
GRCh38/hg38 17q12(chr17:36357258-38225796)x3 copy number gain See cases [RCV000138816] Chr17:36357258..38225796 [GRCh38]
Chr17:34611352..36263019 [GRCh37]
Chr17:31635465..33635633 [NCBI36]
Chr17:17q12
likely pathogenic
GRCh38/hg38 17q12(chr17:36500465-37889304)x1 copy number loss See cases [RCV000138632] Chr17:36500465..37889304 [GRCh38]
Chr17:34856305..36248926 [GRCh37]
Chr17:31930418..33323039 [NCBI36]
Chr17:17q12
pathogenic
GRCh38/hg38 17q12(chr17:36461608-37889296)x3 copy number gain See cases [RCV000138608] Chr17:36461608..37889296 [GRCh38]
Chr17:34817422..36248918 [GRCh37]
Chr17:31891535..33323031 [NCBI36]
Chr17:17q12
likely pathogenic|uncertain significance
GRCh37/hg19 17q12(chr17:34817422-36248918)x1 copy number loss See cases [RCV000138609] Chr17:34817422..36248918 [GRCh37]
Chr17:31891535..33323031 [NCBI36]
Chr17:17q12
pathogenic|conflicting data from submitters
GRCh37/hg19 17q12(chr17:34360168-36248859)x1 copy number loss See cases [RCV000140228] Chr17:34360168..36248859 [GRCh37]
Chr17:31384281..33322972 [NCBI36]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34856055-36248859)x3 copy number gain See cases [RCV000141116] Chr17:34856055..36248859 [GRCh37]
Chr17:31930168..33322972 [NCBI36]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34856055-36248859)x1 copy number loss See cases [RCV000141117] Chr17:34856055..36248859 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822466-36393628)x1 copy number loss See cases [RCV000142004] Chr17:34822466..36393628 [GRCh37]
Chr17:31896579..33647435 [NCBI36]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34437482-36244358)x3 copy number gain See cases [RCV000141832] Chr17:34437482..36244358 [GRCh37]
Chr17:31461595..33318471 [NCBI36]
Chr17:17q12
likely pathogenic
GRCh37/hg19 17q12(chr17:34817452-36168075)x3 copy number gain See cases [RCV000141558] Chr17:34817452..36168075 [GRCh37]
Chr17:31891565..33242188 [NCBI36]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q12(chr17:34822466-36307773)x1 copy number loss See cases [RCV000142028] Chr17:34822466..36307773 [GRCh37]
Chr17:31896579..33337163 [NCBI36]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822465-36350005)x3 copy number gain See cases [RCV000142072] Chr17:34822465..36350005 [GRCh37]
Chr17:31896578..33337163 [NCBI36]
Chr17:17q12
likely pathogenic
GRCh37/hg19 17q12(chr17:34822466-36283612)x1 copy number loss See cases [RCV000142090] Chr17:34822466..36283612 [GRCh37]
Chr17:31896579..33337163 [NCBI36]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822466-36316161)x1 copy number loss See cases [RCV000142104] Chr17:34822466..36316161 [GRCh37]
Chr17:31896579..33337163 [NCBI36]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283807)x1 copy number loss See cases [RCV000142180] Chr17:34822465..36283807 [GRCh37]
Chr17:31896578..33337163 [NCBI36]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283612)x3 copy number gain See cases [RCV000143663] Chr17:34822465..36283612 [GRCh37]
Chr17:31896578..33337163 [NCBI36]
Chr17:17q12
likely pathogenic
GRCh38/hg38 17q12(chr17:36357258-37889296)x1 copy number loss See cases [RCV000148256] Chr17:36357258..37889296 [GRCh38]
Chr17:34611352..36248918 [GRCh37]
Chr17:31635465..33323031 [NCBI36]
Chr17:17q12
pathogenic
GRCh38/hg38 17q12(chr17:36500215-37889296)x1 copy number loss See cases [RCV000148120] Chr17:36500215..37889296 [GRCh38]
Chr17:34856055..36248918 [GRCh37]
Chr17:31930168..33323031 [NCBI36]
Chr17:17q12
pathogenic
GRCh38/hg38 17q12(chr17:36357258-37889296)x3 copy number gain See cases [RCV000148124] Chr17:36357258..37889296 [GRCh38]
Chr17:34611352..36248918 [GRCh37]
Chr17:31635465..33323031 [NCBI36]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34856055-36248918)x3 copy number gain See cases [RCV000148172] Chr17:34856055..36248918 [GRCh37]
Chr17:31930168..33323031 [NCBI36]
Chr17:17q12
pathogenic
NC_000017.10:g.(34360227_34437475)_(36214026_36473024)del deletion Chromosome 17q12 deletion syndrome [RCV000191150] Chr17:34437475..36214026 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34508117-36173763)x1 copy number loss See cases [RCV000054375] Chr17:34508117..36173763 [GRCh37]
Chr17:31474518..33247876 [NCBI36]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34849849-36151346)x1 copy number loss See cases [RCV000240223] Chr17:34849849..36151346 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34899836-36177728)x1 copy number loss See cases [RCV000051228] Chr17:34899836..36177728 [GRCh37]
Chr17:31973949..33251841 [NCBI36]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34310998-36297053)x3 copy number gain See cases [RCV000051912] Chr17:34310998..36297053 [GRCh37]
Chr17:31335111..33373530 [NCBI36]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34360168-36209228)x3 copy number gain See cases [RCV000051914] Chr17:34360168..36209228 [GRCh37]
Chr17:31384281..33283341 [NCBI36]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34815184-36209228)x3 copy number gain See cases [RCV000051915] Chr17:34815184..36209228 [GRCh37]
Chr17:31889297..33283341 [NCBI36]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34817422-36173763)x3 copy number gain See cases [RCV000051916] Chr17:34817422..36173763 [GRCh37]
Chr17:31891535..33247876 [NCBI36]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34817422-36168104)x1 copy number loss See cases [RCV000054377] Chr17:34817422..36168104 [GRCh37]
Chr17:31891535..33242217 [NCBI36]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34851537-36173763)x1 copy number loss See cases [RCV000054379] Chr17:34851537..36173763 [GRCh37]
Chr17:31925650..33247876 [NCBI36]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34899836-36224189)x1 copy number loss See cases [RCV000054382] Chr17:34899836..36224189 [GRCh37]
Chr17:31973949..33298302 [NCBI36]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34815551-36244358)x1 copy number loss See cases [RCV000515600] Chr17:34815551..36244358 [GRCh37]
Chr17:17q12
pathogenic
Single allele duplication Autism spectrum disorder [RCV000225391] Chr17:34815551..36249800 [GRCh37]
Chr17:17q12
pathogenic|likely pathogenic
GRCh37/hg19 17q12(chr17:34815551-36220373)x3 copy number gain Premature ovarian failure [RCV000225163] Chr17:34815551..36220373 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q12(chr17:34849849-36151346)x3 copy number gain See cases [RCV000240094] Chr17:34849849..36151346 [GRCh37]
Chr17:17q12
pathogenic
NM_198834.3(ACACA):c.814C>T (p.Gln272Ter) single nucleotide variant not provided [RCV000592667] Chr17:37276038 [GRCh38]
Chr17:35632931 [GRCh37]
Chr17:17q12
uncertain significance
NM_198834.3(ACACA):c.6020C>T (p.Thr2007Ile) single nucleotide variant not provided [RCV000585528] Chr17:37125719 [GRCh38]
Chr17:35482640 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q12(chr17:34815072-36192492)x1 deletion Chromosome 17q12 deletion syndrome [RCV000416291] Chr17:34815072..36192492 [GRCh37]
Chr17:17q12
pathogenic|uncertain significance
GRCh37/hg19 17q12(chr17:34822465-36307773)x3 copy number gain See cases [RCV000449357] Chr17:34822465..36307773 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822465-36351919)x3 copy number gain See cases [RCV000449434] Chr17:34822465..36351919 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34815551-36208392)x1 copy number loss VATER association [RCV000522672] Chr17:34815551..36208392 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34849849-36151287)x3 copy number gain See cases [RCV000446641] Chr17:34849849..36151287 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283612)x1 copy number loss See cases [RCV000447417] Chr17:34822465..36283612 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:35588186-35802087)x3 copy number gain See cases [RCV000448902] Chr17:35588186..35802087 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q12(chr17:34822465-36283807)x1 copy number loss See cases [RCV000448533] Chr17:34822465..36283807 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34425362-36410559)x3 copy number gain See cases [RCV000447719] Chr17:34425362..36410559 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822465-36244358)x3 copy number gain See cases [RCV000512116] Chr17:34822465..36244358 [GRCh37]
Chr17:17q12
likely pathogenic
GRCh37/hg19 17q12(chr17:34822465-36300630)x1 copy number loss See cases [RCV000510401] Chr17:34822465..36300630 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822466-36244358)x1 copy number loss See cases [RCV000510257] Chr17:34822466..36244358 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34437482-36404555)x3 copy number gain See cases [RCV000510217] Chr17:34437482..36404555 [GRCh37]
Chr17:17q12
likely pathogenic
GRCh37/hg19 17q12(chr17:34822465-36316161)x1 copy number loss See cases [RCV000510588] Chr17:34822465..36316161 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822467-36307773)x1 copy number loss See cases [RCV000511448] Chr17:34822467..36307773 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34437482-36350584)x3 copy number gain See cases [RCV000511415] Chr17:34437482..36350584 [GRCh37]
Chr17:17q12
likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q12(chr17:34822465-36410559)x3 copy number gain See cases [RCV000511856] Chr17:34822465..36410559 [GRCh37]
Chr17:17q12
likely pathogenic
GRCh37/hg19 17q12(chr17:34822466-36300466)x1 copy number loss See cases [RCV000511202] Chr17:34822466..36300466 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822465-36397323)x1 copy number loss See cases [RCV000511069] Chr17:34822465..36397323 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822465-36225988)x3 copy number gain See cases [RCV000511229] Chr17:34822465..36225988 [GRCh37]
Chr17:17q12
likely pathogenic
GRCh37/hg19 17q12(chr17:34822466-36404136)x1 copy number loss See cases [RCV000511092] Chr17:34822466..36404136 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822466-36351934)x1 copy number loss See cases [RCV000510732] Chr17:34822466..36351934 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34447113-36283612)x1 copy number loss See cases [RCV000510761] Chr17:34447113..36283612 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34475679-36283612)x1 copy number loss See cases [RCV000510867] Chr17:34475679..36283612 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822465-36244358)x1 copy number loss See cases [RCV000511282] Chr17:34822465..36244358 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822465-36316144)x1 copy number loss See cases [RCV000510825] Chr17:34822465..36316144 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822465-36307773)x1 copy number loss See cases [RCV000512367] Chr17:34822465..36307773 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822466-36283807)x1 copy number loss See cases [RCV000512433] Chr17:34822466..36283807 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q12(chr17:34611352-36248918) copy number gain Elevated serum creatine phosphokinase [RCV000626519] Chr17:34611352..36248918 [GRCh37]
Chr17:17q12
pathogenic
NM_198834.3(ACACA):c.4777-7C>G single nucleotide variant not provided [RCV000676920] Chr17:37181363 [GRCh38]
Chr17:35538304 [GRCh37]
Chr17:17q12
benign
NM_198834.3(ACACA):c.4777-16dup duplication not provided [RCV000676921] Chr17:37181363..37181364 [GRCh38]
Chr17:35538304..35538305 [GRCh37]
Chr17:17q12
likely benign
NM_198834.3(ACACA):c.3475-10T>C single nucleotide variant not provided [RCV000676922] Chr17:37223611 [GRCh38]
Chr17:35580532 [GRCh37]
Chr17:17q12
likely benign
NM_198834.3(ACACA):c.2082-10_2082-8dup duplication not provided [RCV000676924] Chr17:37248681..37248682 [GRCh38]
Chr17:35605605..35605606 [GRCh37]
Chr17:17q12
likely benign
NM_198834.3(ACACA):c.547C>A (p.Arg183=) single nucleotide variant not provided [RCV000676929] Chr17:37283330 [GRCh38]
Chr17:35640231 [GRCh37]
Chr17:17q12
likely benign
NM_198834.3(ACACA):c.6924G>A (p.Ala2308=) single nucleotide variant not provided [RCV000676918] Chr17:37089042 [GRCh38]
Chr17:35445977 [GRCh37]
Chr17:17q12
likely benign
NM_198834.3(ACACA):c.6444A>C (p.Arg2148=) single nucleotide variant not provided [RCV000676919] Chr17:37113096 [GRCh38]
Chr17:35470031 [GRCh37]
Chr17:17q12
benign
NM_198834.3(ACACA):c.926A>G (p.Asn309Ser) single nucleotide variant not provided [RCV000676928] Chr17:37274275 [GRCh38]
Chr17:35631166 [GRCh37]
Chr17:17q12
uncertain significance
NM_198834.3(ACACA):c.3122-6G>A single nucleotide variant not provided [RCV000676923] Chr17:37235105 [GRCh38]
Chr17:35592020 [GRCh37]
Chr17:17q12
benign
NM_198834.3(ACACA):c.1923G>A (p.Gln641=) single nucleotide variant Acetyl-CoA: carboxylase deficiency [RCV001421020]|not provided [RCV000676925] Chr17:37252940 [GRCh38]
Chr17:35609866 [GRCh37]
Chr17:17q12
benign
NM_198834.3(ACACA):c.999T>C (p.Asp333=) single nucleotide variant not provided [RCV000676927] Chr17:37274202 [GRCh38]
Chr17:35631093 [GRCh37]
Chr17:17q12
likely benign
NM_198834.3(ACACA):c.1009-3A>C single nucleotide variant not provided [RCV000676926] Chr17:37270864 [GRCh38]
Chr17:35627755 [GRCh37]
Chr17:17q12
likely benign
GRCh37/hg19 17q12(chr17:34425362-36283612)x3 copy number gain not provided [RCV000683920] Chr17:34425362..36283612 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34426244-36225988)x3 copy number gain not provided [RCV000683921] Chr17:34426244..36225988 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34475679-36311009)x1 copy number loss not provided [RCV000683922] Chr17:34475679..36311009 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34477385-36404555)x1 copy number loss not provided [RCV000683923] Chr17:34477385..36404555 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822465-36244332)x3 copy number gain not provided [RCV000683924] Chr17:34822465..36244332 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822465-36244358)x1 copy number loss not provided [RCV000683925] Chr17:34822465..36244358 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283807)x1 copy number loss not provided [RCV000683927] Chr17:34822465..36283807 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822465-36316161)x3 copy number gain not provided [RCV000683929] Chr17:34822465..36316161 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822465-36351919)x3 copy number gain not provided [RCV000683930] Chr17:34822465..36351919 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822465-36371146)x3 copy number gain not provided [RCV000683931] Chr17:34822465..36371146 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822465-36404136)x1 copy number loss not provided [RCV000683932] Chr17:34822465..36404136 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822465-36283612)x3 copy number gain not provided [RCV000683926] Chr17:34822465..36283612 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34822465-36307773)x1 copy number loss not provided [RCV000683928] Chr17:34822465..36307773 [GRCh37]
Chr17:17q12
pathogenic
NC_000017.10:g.(?_34856670)_(35478412_?)del deletion Hyperphosphatasia with mental retardation syndrome 5 [RCV000707810] Chr17:34856670..35478412 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NC_000017.11:g.(?_36357256)_(37995300_?)del deletion Schizophrenia [RCV000754204] Chr17:36357256..37995300 [GRCh38]
Chr17:17q12
pathogenic
NC_000017.11:g.(?_36143765)_(37995300_?)del deletion Autistic disorder of childhood onset [RCV000754203] Chr17:36143765..37995300 [GRCh38]
Chr17:17q12
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754205] Chr17:36357256..37995300 [GRCh38]
Chr17:17q12
likely pathogenic
NC_000017.11:g.(?_36446252)_(37887875_?)del deletion Autistic disorder of childhood onset [RCV000754206] Chr17:36446252..37887875 [GRCh38]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34812294-36272082)x3 copy number gain not provided [RCV000752026] Chr17:34812294..36272082 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q12(chr17:34813067-36223325)x3 copy number gain not provided [RCV000752027] Chr17:34813067..36223325 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q12(chr17:34815551-36244358)x1 copy number loss not provided [RCV000752028] Chr17:34815551..36244358 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34815551-36307189)x1 copy number loss not provided [RCV000752029] Chr17:34815551..36307189 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34848678-36194230) copy number gain Chromosome 17q12 duplication syndrome [RCV000767620] Chr17:34848678..36194230 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34819191-36104803) copy number gain Chromosome 17q12 duplication syndrome [RCV000767659] Chr17:34819191..36104803 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34437475-36214026) copy number gain Chromosome 17q12 duplication syndrome [RCV000767740] Chr17:34437475..36214026 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34842059-36214026) copy number gain Chromosome 17q12 duplication syndrome [RCV000767688] Chr17:34842059..36214026 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34819191-36194230) copy number loss Chromosome 17q12 deletion syndrome [RCV000767697] Chr17:34819191..36194230 [GRCh37]
Chr17:17q12
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787391] Chr17:34815172..36249799 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2
pathogenic
GRCh37/hg19 17q12(chr17:35711159-36244358)x3 copy number gain not provided [RCV000848888] Chr17:35711159..36244358 [GRCh37]
Chr17:17q12
uncertain significance
NM_198834.3(ACACA):c.4057-5C>T single nucleotide variant not provided [RCV000996525] Chr17:37200488 [GRCh38]
Chr17:35557431 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q12(chr17:35258617-35825367)x3 copy number gain not provided [RCV001006896] Chr17:35258617..35825367 [GRCh37]
Chr17:17q12
uncertain significance
NM_198834.3(ACACA):c.4642G>A (p.Ala1548Thr) single nucleotide variant Acetyl-CoA: carboxylase deficiency [RCV001001309] Chr17:37188411 [GRCh38]
Chr17:35545351 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q12(chr17:34815551-36244358)x3 copy number gain See cases [RCV001194546] Chr17:34815551..36244358 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:35588688-35818634)x3 copy number gain not provided [RCV001006897] Chr17:35588688..35818634 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q12(chr17:34822465-36410559)x3 copy number gain not provided [RCV001259334] Chr17:34822465..36410559 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17q12(chr17:34815466-36249366)x3 copy number gain not provided [RCV001537910] Chr17:34815466..36249366 [GRCh37]
Chr17:17q12
pathogenic
NM_198834.3(ACACA):c.3474+2TA[14] microsatellite Acetyl-CoA: carboxylase deficiency [RCV001331952] Chr17:37224966..37224967 [GRCh38]
Chr17:35581887..35581888 [GRCh37]
Chr17:17q12
pathogenic
NM_198834.3(ACACA):c.6923C>T (p.Ala2308Val) single nucleotide variant Acetyl-CoA: carboxylase deficiency [RCV001331954] Chr17:37089043 [GRCh38]
Chr17:35445978 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q12(chr17:34841190-35733119) copy number gain Autism with high cognitive abilities [RCV001291968] Chr17:34841190..35733119 [GRCh37]
Chr17:17q12
likely pathogenic
NM_198834.3(ACACA):c.541A>T (p.Met181Leu) single nucleotide variant Hereditary breast and ovarian cancer syndrome [RCV001374522] Chr17:37283336 [GRCh38]
Chr17:35640237 [GRCh37]
Chr17:17q12
uncertain significance
NM_198834.3(ACACA):c.3132C>G (p.Asp1044Glu) single nucleotide variant not provided [RCV001355217] Chr17:37235089 [GRCh38]
Chr17:35592004 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q12(chr17:34437475-36243028) copy number gain Polyhydramnios [RCV001291974] Chr17:34437475..36243028 [GRCh37]
Chr17:17q12
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:84 AgrOrtholog
COSMIC ACACA COSMIC
Ensembl Genes ENSG00000275176 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000278540 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000477912 UniProtKB/TrEMBL
  ENSP00000478547 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000478577 UniProtKB/Swiss-Prot
  ENSP00000478588 UniProtKB/TrEMBL
  ENSP00000479621 UniProtKB/TrEMBL
  ENSP00000479901 UniProtKB/Swiss-Prot
  ENSP00000480031 UniProtKB/Swiss-Prot
  ENSP00000480371 UniProtKB/TrEMBL
  ENSP00000481900 UniProtKB/TrEMBL
  ENSP00000482064 UniProtKB/TrEMBL
  ENSP00000482269 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000482368 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000482498 UniProtKB/TrEMBL
  ENSP00000483300 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000483674 UniProtKB/Swiss-Prot
  ENSP00000483696 UniProtKB/TrEMBL
  ENSP00000483852 UniProtKB/TrEMBL
  ENSP00000483969 UniProtKB/TrEMBL
  ENSP00000484948 UniProtKB/TrEMBL
  ENSP00000487874 UniProtKB/TrEMBL
  ENSP00000487997 UniProtKB/TrEMBL
  ENSP00000488112 UniProtKB/TrEMBL
  ENSP00000488139 UniProtKB/TrEMBL
  ENSP00000488145 UniProtKB/TrEMBL
  ENSP00000488223 UniProtKB/TrEMBL
  ENSP00000488724 UniProtKB/TrEMBL
  ENSP00000488774 UniProtKB/TrEMBL
  ENSP00000488846 UniProtKB/TrEMBL
Ensembl Transcript ENST00000611803 UniProtKB/Swiss-Prot
  ENST00000612007 UniProtKB/TrEMBL
  ENST00000612895 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000613687 UniProtKB/Swiss-Prot
  ENST00000614428 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000614438 UniProtKB/TrEMBL
  ENST00000614482 UniProtKB/TrEMBL
  ENST00000614789 UniProtKB/TrEMBL
  ENST00000615229 UniProtKB/TrEMBL
  ENST00000615918 UniProtKB/TrEMBL
  ENST00000616317 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000616352 UniProtKB/TrEMBL
  ENST00000617548 UniProtKB/TrEMBL
  ENST00000617649 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000618053 UniProtKB/TrEMBL
  ENST00000619487 UniProtKB/Swiss-Prot
  ENST00000619546 UniProtKB/TrEMBL
  ENST00000621312 UniProtKB/Swiss-Prot
  ENST00000621960 UniProtKB/TrEMBL
  ENST00000631657 UniProtKB/TrEMBL
  ENST00000631953 UniProtKB/TrEMBL
  ENST00000632361 UniProtKB/TrEMBL
  ENST00000632453 UniProtKB/TrEMBL
  ENST00000632486 UniProtKB/TrEMBL
  ENST00000632723 UniProtKB/TrEMBL
  ENST00000633050 UniProtKB/TrEMBL
  ENST00000633325 UniProtKB/TrEMBL
  ENST00000634140 UniProtKB/TrEMBL
Gene3D-CATH 3.30.1490.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000275176 GTEx
  ENSG00000278540 GTEx
HGNC ID HGNC:84 ENTREZGENE
Human Proteome Map ACACA Human Proteome Map
InterPro AcCoA_carboxyl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcCoA_COase_cen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-grasp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP_grasp_subdomain_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BC-like_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Biotin_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Biotin_carboxylation_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Biotin_COase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Biotin_lipoyl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CbamoylP_synth_lsu-like_ATP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ClpP/crotonase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COA_CT_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COA_CT_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PreATP-grasp_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rudment_hybrid_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Single_hybrid_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:31 UniProtKB/Swiss-Prot
NCBI Gene 31 ENTREZGENE
OMIM 200350 OMIM
  613933 OMIM
Pfam ACC_central UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Biotin_carb_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Biotin_carb_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Biotin_lipoyl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Carboxyl_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CPSase_L_D2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24421 PharmGKB
PROSITE ATP_GRASP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BIOTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BIOTINYL_LIPOYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COA_CT_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COA_CT_NTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CPSASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CPSASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50979 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Biotin_carb_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51246 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52096 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R0Y2 ENTREZGENE, UniProtKB/TrEMBL
  A0A087WVR6_HUMAN UniProtKB/TrEMBL
  A0A087WWN5_HUMAN UniProtKB/TrEMBL
  A0A087WYK6_HUMAN UniProtKB/TrEMBL
  A0A087WYS8_HUMAN UniProtKB/TrEMBL
  A0A087X0W4_HUMAN UniProtKB/TrEMBL
  A0A087X126_HUMAN UniProtKB/TrEMBL
  A0A087X2F8_HUMAN UniProtKB/TrEMBL
  A0A0C4DGT1_HUMAN UniProtKB/TrEMBL
  ACACA_HUMAN UniProtKB/Swiss-Prot
  B2ZZ90 ENTREZGENE
  L8EAV0_HUMAN UniProtKB/TrEMBL
  Q13085 ENTREZGENE
  Q59FY4_HUMAN UniProtKB/TrEMBL
  Q7Z5W8 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A0A0G2JM60 UniProtKB/TrEMBL
  B2RP68 UniProtKB/Swiss-Prot
  B2ZZ90 UniProtKB/Swiss-Prot
  Q6KEV6 UniProtKB/Swiss-Prot
  Q6XDA8 UniProtKB/Swiss-Prot
  Q7Z2G8 UniProtKB/Swiss-Prot
  Q7Z561 UniProtKB/Swiss-Prot
  Q7Z563 UniProtKB/Swiss-Prot
  Q7Z564 UniProtKB/Swiss-Prot
  Q86WB2 UniProtKB/Swiss-Prot
  Q86WB3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-08-16 ACACA  acetyl-CoA carboxylase alpha  ACACA  acetyl-CoA carboxylase alpha  Symbol and/or name change 5135510 APPROVED
2011-07-27 ACACA  acetyl-CoA carboxylase alpha  ACACA  acetyl-Coenzyme A carboxylase alpha  Symbol and/or name change 5135510 APPROVED