ACSM3 (acyl-CoA synthetase medium chain family member 3) - Rat Genome Database

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Gene: ACSM3 (acyl-CoA synthetase medium chain family member 3) Homo sapiens
Analyze
Symbol: ACSM3
Name: acyl-CoA synthetase medium chain family member 3
RGD ID: 735798
HGNC Page HGNC
Description: Exhibits butyrate-CoA ligase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Localizes to mitochondrion. Implicated in IgA glomerulonephritis. Biomarker of ulcerative colitis; PARTICIPATES IN butanoate metabolic pathway; fatty acid beta degradation pathway; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 5-fluorouracil.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: acyl-CoA synthetase medium-chain family member 3; acyl-coenzyme A synthetase ACSM3, mitochondrial; butyrate--CoA ligase 3; butyryl-coenzyme A synthetase 3; middle-chain acyl-CoA synthetase 3; propionate--CoA ligase; protein SA homolog; SA; SA (rat hypertension-associated) homolog; SA hypertension-associated homolog; sa rat hypertension-associated homolog; SAH
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 Ensembl1620,610,243 - 20,797,581 (+)EnsemblGRCh38hg38GRCh38
GRCh381620,742,440 - 20,797,811 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371620,775,336 - 20,808,903 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361620,682,813 - 20,715,980 (+)NCBINCBI36hg18NCBI36
Build 341620,682,812 - 20,715,979NCBI
Celera1620,085,531 - 20,118,378 (+)NCBI
Cytogenetic Map16p12.3NCBI
HuRef1619,310,909 - 19,343,750 (+)NCBIHuRef
CHM1_11620,862,551 - 20,895,398 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
bexarotene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlorohydrocarbon  (ISO)
chromium(6+)  (ISO)
ciglitazone  (EXP)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
cyclosporin A  (EXP)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dieldrin  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
folic acid  (ISO)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
Heliotrine  (EXP,ISO)
Indeno[1,2,3-cd]pyrene  (ISO)
indole-3-methanol  (ISO)
isotretinoin  (EXP)
lead diacetate  (ISO)
lipopolysaccharide  (EXP)
metformin  (ISO)
methimazole  (ISO)
methylmercury chloride  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nickel atom  (EXP)
O-methyleugenol  (EXP)
orphenadrine  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
senecionine  (EXP)
Senkirkine  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sulforaphane  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7843754   PMID:7907320   PMID:8125298   PMID:8135833   PMID:10493829   PMID:11158418   PMID:11470804   PMID:11772874   PMID:12046348   PMID:12477932   PMID:15361761   PMID:16341674  
PMID:17070428   PMID:17278971   PMID:18192838   PMID:18519841   PMID:18660489   PMID:19108963   PMID:19262474   PMID:19578796   PMID:19913121   PMID:20084102   PMID:20379614   PMID:20628086  
PMID:20679960   PMID:20877624   PMID:21873635   PMID:27503909   PMID:28390038  


Genomics

Candidate Gene Status
ACSM3 is a candidate Gene for QTL GLUCO145_H
Comparative Map Data
ACSM3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1620,610,243 - 20,797,581 (+)EnsemblGRCh38hg38GRCh38
GRCh381620,742,440 - 20,797,811 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371620,775,336 - 20,808,903 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361620,682,813 - 20,715,980 (+)NCBINCBI36hg18NCBI36
Build 341620,682,812 - 20,715,979NCBI
Celera1620,085,531 - 20,118,378 (+)NCBI
Cytogenetic Map16p12.3NCBI
HuRef1619,310,909 - 19,343,750 (+)NCBIHuRef
CHM1_11620,862,551 - 20,895,398 (+)NCBICHM1_1
Acsm3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397119,360,106 - 119,384,119 (+)NCBIGRCm39mm39
GRCm39 Ensembl7119,360,146 - 119,386,736 (+)Ensembl
GRCm387119,760,883 - 119,784,896 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7119,760,923 - 119,787,513 (+)EnsemblGRCm38mm10GRCm38
MGSCv377126,904,437 - 126,928,410 (+)NCBIGRCm37mm9NCBIm37
MGSCv367119,552,072 - 119,576,045 (+)NCBImm8
Celera7119,680,775 - 119,704,303 (+)NCBICelera
Cytogenetic Map7F2NCBI
Acsm3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21174,133,260 - 174,159,966 (+)NCBI
Rnor_6.0 Ensembl1189,514,553 - 189,541,224 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01189,514,504 - 189,541,233 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01196,449,042 - 196,475,596 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41178,054,386 - 178,081,751 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11178,212,017 - 178,214,310 (+)NCBI
Celera1171,883,756 - 171,910,443 (+)NCBICelera
Cytogenetic Map1q35NCBI
Acsm3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495549372,633 - 96,348 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495549373,306 - 95,521 (+)NCBIChiLan1.0ChiLan1.0
ACSM3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11620,796,425 - 20,829,734 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1620,796,425 - 20,829,315 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01617,611,715 - 17,644,587 (-)NCBIMhudiblu_PPA_v0panPan3
ACSM3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1624,558,010 - 24,594,326 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl624,558,142 - 24,582,728 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha622,794,570 - 22,815,828 (+)NCBI
ROS_Cfam_1.0624,713,351 - 24,738,717 (-)NCBI
UMICH_Zoey_3.1624,514,283 - 24,539,642 (-)NCBI
UNSW_CanFamBas_1.0624,409,510 - 24,434,851 (-)NCBI
UU_Cfam_GSD_1.0624,793,586 - 24,812,573 (-)NCBI
Acsm3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344117,980,363 - 117,997,679 (+)NCBI
SpeTri2.0NW_0049365016,077,366 - 6,095,432 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACSM3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl325,247,722 - 25,283,709 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1325,247,723 - 25,284,063 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2326,031,989 - 26,068,440 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACSM3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1518,876,390 - 18,929,914 (+)NCBI
ChlSab1.1 Ensembl518,904,110 - 18,929,729 (+)Ensembl
Acsm3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247826,930,461 - 6,958,867 (+)NCBI

Position Markers
SHGC-60770  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371620,807,698 - 20,807,827UniSTSGRCh37
Build 361620,715,199 - 20,715,328RGDNCBI36
Celera1620,117,597 - 20,117,726RGD
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map16p13.11UniSTS
HuRef1619,342,969 - 19,343,098UniSTS
GeneMap99-GB4 RH Map16192.95UniSTS
Whitehead-RH Map16112.1UniSTS
NCBI RH Map16221.2UniSTS
SHGC-60682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371620,808,356 - 20,808,480UniSTSGRCh37
Build 361620,715,857 - 20,715,981RGDNCBI36
Celera1620,118,255 - 20,118,379RGD
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map16p13.11UniSTS
HuRef1619,343,627 - 19,343,751UniSTS
GeneMap99-GB4 RH Map16192.95UniSTS
Whitehead-RH Map16107.1UniSTS
NCBI RH Map16221.2UniSTS
GDB:374124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371620,781,341 - 20,781,524UniSTSGRCh37
Build 361620,688,842 - 20,689,025RGDNCBI36
Celera1620,091,240 - 20,091,423RGD
Cytogenetic Map16p13.11UniSTS
HuRef1619,316,618 - 19,316,801UniSTS
SHGC-145237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371620,775,383 - 20,775,684UniSTSGRCh37
Build 361620,682,884 - 20,683,185RGDNCBI36
Celera1620,085,602 - 20,085,903RGD
Cytogenetic Map16p13.11UniSTS
HuRef1619,310,980 - 19,311,281UniSTS
TNG Radiation Hybrid Map1612060.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1344
Count of miRNA genes:706
Interacting mature miRNAs:812
Transcripts:ENST00000289416, ENST00000440284, ENST00000450120, ENST00000501740, ENST00000561499, ENST00000561584, ENST00000561795, ENST00000562251, ENST00000563914, ENST00000564701, ENST00000567006, ENST00000567387, ENST00000567711, ENST00000568235, ENST00000569141
Prediction methods:Microtar, Miranda, 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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 240 52 191 181 186 181 7 29 189 779 29 47
Low 1877 2023 1208 423 1278 268 2276 1115 651 208 622 1246 161 533 1358 4 1
Below cutoff 317 909 324 20 481 16 2064 1040 3001 22 57 330 10 1 624 1425 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_005622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_202000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI770558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI826935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM828310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU170035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA425752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D16350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X80062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X80063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X80064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000289416   ⟹   ENSP00000289416
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1620,764,014 - 20,797,581 (+)Ensembl
RefSeq Acc Id: ENST00000440284   ⟹   ENSP00000394565
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1620,764,040 - 20,786,314 (+)Ensembl
RefSeq Acc Id: ENST00000501740
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1620,674,510 - 20,755,608 (+)Ensembl
RefSeq Acc Id: ENST00000561499
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1620,783,264 - 20,786,152 (+)Ensembl
RefSeq Acc Id: ENST00000561584   ⟹   ENSP00000456055
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1620,674,608 - 20,770,191 (+)Ensembl
RefSeq Acc Id: ENST00000561795   ⟹   ENSP00000458068
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1620,764,683 - 20,777,417 (+)Ensembl
RefSeq Acc Id: ENST00000562251   ⟹   ENSP00000456767
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1620,770,160 - 20,797,156 (+)Ensembl
RefSeq Acc Id: ENST00000563914   ⟹   ENSP00000457926
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1620,779,881 - 20,786,316 (+)Ensembl
RefSeq Acc Id: ENST00000564701   ⟹   ENSP00000457158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1620,749,418 - 20,770,109 (+)Ensembl
RefSeq Acc Id: ENST00000567006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1620,796,238 - 20,797,153 (+)Ensembl
RefSeq Acc Id: ENST00000567387
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1620,783,251 - 20,796,992 (+)Ensembl
RefSeq Acc Id: ENST00000567711
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1620,796,078 - 20,797,156 (+)Ensembl
RefSeq Acc Id: ENST00000568235   ⟹   ENSP00000457003
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1620,610,243 - 20,775,920 (+)Ensembl
RefSeq Acc Id: ENST00000569141   ⟹   ENSP00000457608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1620,785,050 - 20,796,929 (+)Ensembl
RefSeq Acc Id: ENST00000614721
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1620,674,531 - 20,682,176 (+)Ensembl
RefSeq Acc Id: NM_005622   ⟹   NP_005613
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381620,764,014 - 20,797,581 (+)NCBI
GRCh371620,775,312 - 20,808,479 (+)ENTREZGENE
Build 361620,682,813 - 20,715,980 (+)NCBI Archive
HuRef1619,310,909 - 19,343,750 (+)ENTREZGENE
CHM1_11620,862,551 - 20,895,398 (+)NCBI
Sequence:
RefSeq Acc Id: NM_202000   ⟹   NP_973729
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381620,764,014 - 20,786,314 (+)NCBI
GRCh371620,775,312 - 20,808,479 (+)ENTREZGENE
Build 361620,682,813 - 20,705,139 (+)NCBI Archive
HuRef1619,310,909 - 19,343,750 (+)ENTREZGENE
CHM1_11620,862,551 - 20,884,557 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545911   ⟹   XP_011544213
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381620,763,996 - 20,797,581 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023523   ⟹   XP_016879012
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381620,763,996 - 20,797,811 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450367   ⟹   XP_024306135
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381620,763,996 - 20,797,811 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450368   ⟹   XP_024306136
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381620,749,265 - 20,797,581 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450369   ⟹   XP_024306137
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381620,749,265 - 20,797,811 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450370   ⟹   XP_024306138
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381620,749,265 - 20,797,581 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450371   ⟹   XP_024306139
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381620,749,265 - 20,796,243 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002957833
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381620,742,440 - 20,796,452 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005613   ⟸   NM_005622
- Peptide Label: isoform 1
- UniProtKB: Q53FZ2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_973729   ⟸   NM_202000
- Peptide Label: isoform 2
- UniProtKB: Q53FZ2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011544213   ⟸   XM_011545911
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016879012   ⟸   XM_017023523
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024306137   ⟸   XM_024450369
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024306136   ⟸   XM_024450368
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024306138   ⟸   XM_024450370
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024306139   ⟸   XM_024450371
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_024306135   ⟸   XM_024450367
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000394565   ⟸   ENST00000440284
RefSeq Acc Id: ENSP00000458068   ⟸   ENST00000561795
RefSeq Acc Id: ENSP00000456055   ⟸   ENST00000561584
RefSeq Acc Id: ENSP00000456767   ⟸   ENST00000562251
RefSeq Acc Id: ENSP00000457926   ⟸   ENST00000563914
RefSeq Acc Id: ENSP00000289416   ⟸   ENST00000289416
RefSeq Acc Id: ENSP00000457158   ⟸   ENST00000564701
RefSeq Acc Id: ENSP00000457003   ⟸   ENST00000568235
RefSeq Acc Id: ENSP00000457608   ⟸   ENST00000569141
Protein Domains
AMP-binding   AMP-binding_C

Promoters
RGD ID:6792768
Promoter ID:HG_KWN:23209
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_202000,   OTTHUMT00000254414
Position:
Human AssemblyChrPosition (strand)Source
Build 361620,682,509 - 20,683,009 (+)MPROMDB
RGD ID:6816058
Promoter ID:HG_SPT:23285
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AI470688,   AI590297,   AI934380,   AW271382,   AW467116,   AW771504,   BF510359,   BF594326,   CA425752
Position:
Human AssemblyChrPosition (strand)Source
Build 361620,705,381 - 20,705,881 (-)MPROMDB
RGD ID:7231513
Promoter ID:EPDNEW_H21502
Type:multiple initiation site
Name:ACSM3_3
Description:acyl-CoA synthetase medium-chain family member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21499  EPDNEW_H21504  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381620,763,706 - 20,763,766EPDNEW
RGD ID:7231517
Promoter ID:EPDNEW_H21504
Type:initiation region
Name:ACSM3_2
Description:acyl-CoA synthetase medium-chain family member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21499  EPDNEW_H21502  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381620,764,014 - 20,764,074EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 copy number gain See cases [RCV000051828] Chr16:14954894..28306843 [GRCh38]
Chr16:15048751..28318164 [GRCh37]
Chr16:14956252..28225665 [NCBI36]
Chr16:16p13.11-12.1
pathogenic
NM_005622.3(ACSM3):c.992G>A (p.Arg331Gln) single nucleotide variant Malignant melanoma [RCV000071021] Chr16:20781760 [GRCh38]
Chr16:20793082 [GRCh37]
Chr16:20700583 [NCBI36]
Chr16:16p12.3
not provided
NM_005622.3(ACSM3):c.1173G>A (p.Met391Ile) single nucleotide variant Malignant melanoma [RCV000071022] Chr16:20786107 [GRCh38]
Chr16:20797429 [GRCh37]
Chr16:20704930 [NCBI36]
Chr16:16p12.3
not provided
NM_202000.2(ACSM3):c.1241C>T (p.Ser414Phe) single nucleotide variant Malignant melanoma [RCV000071023] Chr16:20786175 [GRCh38]
Chr16:20797497 [GRCh37]
Chr16:20704998 [NCBI36]
Chr16:16p12.3
not provided
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2
pathogenic
GRCh38/hg38 16p12.3-12.2(chr16:20408020-21244474)x1 copy number loss See cases [RCV000139900] Chr16:20408020..21244474 [GRCh38]
Chr16:20419342..21255795 [GRCh37]
Chr16:20326843..21163296 [NCBI36]
Chr16:16p12.3-12.2
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 copy number gain Ductal breast carcinoma [RCV000207226] Chr16:19590412..29814175 [GRCh37]
Chr16:16p12.3-11.2
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Ductal breast carcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 copy number gain See cases [RCV000449403] Chr16:19424115..30142220 [GRCh37]
Chr16:16p12.3-11.2
pathogenic
GRCh37/hg19 16p12.3-12.2(chr16:20258837-21405328)x3 copy number gain See cases [RCV000447220] Chr16:20258837..21405328 [GRCh37]
Chr16:16p12.3-12.2
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 copy number gain See cases [RCV000512428] Chr16:18238275..30177240 [GRCh37]
Chr16:16p12.3-11.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10522 AgrOrtholog
COSMIC ACSM3 COSMIC
Ensembl Genes ENSG00000005187 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000289416 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000394565 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000456055 UniProtKB/TrEMBL
  ENSP00000456767 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000457003 UniProtKB/TrEMBL
  ENSP00000457158 UniProtKB/TrEMBL
  ENSP00000457608 UniProtKB/TrEMBL
  ENSP00000457926 UniProtKB/TrEMBL
  ENSP00000458068 UniProtKB/TrEMBL
Ensembl Transcript ENST00000289416 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000440284 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000561584 UniProtKB/TrEMBL
  ENST00000561795 UniProtKB/TrEMBL
  ENST00000562251 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000563914 UniProtKB/TrEMBL
  ENST00000564701 UniProtKB/TrEMBL
  ENST00000568235 UniProtKB/TrEMBL
  ENST00000569141 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.12780 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000005187 GTEx
HGNC ID HGNC:10522 ENTREZGENE
Human Proteome Map ACSM3 Human Proteome Map
InterPro AMP-bd_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-binding_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-dep_Synth/Lig UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-dep_Synthh-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6296 UniProtKB/Swiss-Prot
NCBI Gene 6296 ENTREZGENE
OMIM 145505 OMIM
Pfam AMP-binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-binding_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34930 PharmGKB
PROSITE AMP_BINDING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ACSM3_HUMAN UniProtKB/Swiss-Prot
  H3BR33_HUMAN UniProtKB/TrEMBL
  H3BSM0_HUMAN UniProtKB/TrEMBL
  H3BT38_HUMAN UniProtKB/TrEMBL
  H3BTG0_HUMAN UniProtKB/TrEMBL
  H3BUF2_HUMAN UniProtKB/TrEMBL
  H3BV29_HUMAN UniProtKB/TrEMBL
  H3BVD5_HUMAN UniProtKB/TrEMBL
  Q53FZ2 ENTREZGENE
UniProt Secondary O60363 UniProtKB/Swiss-Prot
  Q13732 UniProtKB/Swiss-Prot
  Q15425 UniProtKB/Swiss-Prot
  Q7KYM6 UniProtKB/Swiss-Prot
  Q9BUA2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-06-20 ACSM3  acyl-CoA synthetase medium chain family member 3    acyl-CoA synthetase medium-chain family member 3  Symbol and/or name change 5135510 APPROVED