ACSS3 (acyl-CoA synthetase short chain family member 3) - Rat Genome Database

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Gene: ACSS3 (acyl-CoA synthetase short chain family member 3) Homo sapiens
Analyze
Symbol: ACSS3
Name: acyl-CoA synthetase short chain family member 3
RGD ID: 1603012
HGNC Page HGNC
Description: Exhibits propionate-CoA ligase activity. Predicted to be involved in ketone body biosynthetic process. Localizes to mitochondrial matrix; PARTICIPATES IN 3-hydroxyacyl-CoA dehydrogenase deficiency pathway; fatty acid beta degradation pathway; malonic aciduria pathway; INTERACTS WITH arsane; arsenic atom; arsenite(3-).
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: acetate--CoA ligase 3; acyl-CoA synthetase short-chain family member 3; acyl-CoA synthetase short-chain family member 3, mitochondrial; AMP-binding enzyme, 33217; FLJ21963; propionate--CoA ligase
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 Ensembl1280,936,414 - 81,261,210 (+)EnsemblGRCh38hg38GRCh38
GRCh381281,078,037 - 81,261,210 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371281,471,858 - 81,654,989 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361279,995,940 - 80,173,713 (+)NCBINCBI36hg18NCBI36
Celera1281,138,032 - 81,316,367 (+)NCBI
Cytogenetic Map12q21.31NCBI
HuRef1278,528,812 - 78,706,348 (+)NCBIHuRef
CHM1_11281,438,372 - 81,616,058 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:12477932   PMID:16344560   PMID:17762044   PMID:20379614   PMID:21988832   PMID:23726668   PMID:24535457   PMID:25352737   PMID:28003429   PMID:29493120   PMID:31586073   PMID:32814053  


Genomics

Comparative Map Data
ACSS3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1280,936,414 - 81,261,210 (+)EnsemblGRCh38hg38GRCh38
GRCh381281,078,037 - 81,261,210 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371281,471,858 - 81,654,989 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361279,995,940 - 80,173,713 (+)NCBINCBI36hg18NCBI36
Celera1281,138,032 - 81,316,367 (+)NCBI
Cytogenetic Map12q21.31NCBI
HuRef1278,528,812 - 78,706,348 (+)NCBIHuRef
CHM1_11281,438,372 - 81,616,058 (+)NCBICHM1_1
Acss3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910106,769,375 - 106,959,622 (-)NCBIGRCm39mm39
GRCm39 Ensembl10106,769,378 - 106,959,529 (-)Ensembl
GRCm3810106,933,514 - 107,123,761 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10106,933,517 - 107,123,668 (-)EnsemblGRCm38mm10GRCm38
MGSCv3710106,373,220 - 106,560,720 (-)NCBIGRCm37mm9NCBIm37
MGSCv3610106,369,192 - 106,527,778 (-)NCBImm8
Celera10108,877,696 - 109,072,448 (-)NCBICelera
Cytogenetic Map10D1NCBI
Acss3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2742,241,261 - 42,450,230 (-)NCBI
Rnor_6.0 Ensembl749,047,013 - 49,250,957 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0749,047,022 - 49,250,953 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0749,059,778 - 49,265,391 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4745,646,821 - 45,833,803 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1745,642,178 - 45,853,987 (-)NCBI
Celera739,145,557 - 39,324,519 (-)NCBICelera
Cytogenetic Map7q21NCBI
Acss3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540519,677,537 - 19,836,086 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540519,677,191 - 19,836,086 (+)NCBIChiLan1.0ChiLan1.0
ACSS3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11281,698,782 - 81,878,325 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1281,698,875 - 81,878,325 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01278,586,987 - 78,771,478 (+)NCBIMhudiblu_PPA_v0panPan3
ACSS3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11523,337,386 - 23,480,766 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1523,338,432 - 23,478,593 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1523,761,776 - 23,904,041 (+)NCBI
ROS_Cfam_1.01523,699,143 - 23,842,034 (+)NCBI
UMICH_Zoey_3.11523,276,355 - 23,427,464 (+)NCBI
UNSW_CanFamBas_1.01523,336,248 - 23,478,319 (+)NCBI
UU_Cfam_GSD_1.01523,576,616 - 23,719,097 (+)NCBI
Acss3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494536,823,381 - 36,982,797 (-)NCBI
SpeTri2.0NW_0049366981,929,683 - 2,089,703 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACSS3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl5100,270,038 - 100,429,204 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.15100,272,255 - 100,429,229 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.25105,195,329 - 105,368,501 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACSS3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11176,563,595 - 76,737,014 (+)NCBI
ChlSab1.1 Ensembl1176,563,668 - 76,736,852 (+)Ensembl
Acss3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624837416,779 - 626,097 (+)NCBI

Position Markers
RH102920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371281,540,351 - 81,540,506UniSTSGRCh37
Build 361280,064,482 - 80,064,637RGDNCBI36
Celera1281,206,571 - 81,206,726RGD
Cytogenetic Map12q21.31UniSTS
HuRef1278,597,297 - 78,597,452UniSTS
GeneMap99-GB4 RH Map12323.74UniSTS
SHGC-111519  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371281,617,456 - 81,617,778UniSTSGRCh37
Build 361280,141,587 - 80,141,909RGDNCBI36
Celera1281,284,235 - 81,284,557RGD
Cytogenetic Map12q21.31UniSTS
HuRef1278,674,289 - 78,674,611UniSTS
TNG Radiation Hybrid Map1238572.0UniSTS
RH46043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371281,541,730 - 81,541,917UniSTSGRCh37
Build 361280,065,861 - 80,066,048RGDNCBI36
Celera1281,207,950 - 81,208,137RGD
Cytogenetic Map12q21.31UniSTS
HuRef1278,598,676 - 78,598,863UniSTS
GeneMap99-GB4 RH Map12348.47UniSTS
G65555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371281,540,465 - 81,540,761UniSTSGRCh37
Build 361280,064,596 - 80,064,892RGDNCBI36
Celera1281,206,685 - 81,206,981RGD
Cytogenetic Map12q21.31UniSTS
HuRef1278,597,411 - 78,597,707UniSTS
RH1603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371281,542,382 - 81,542,495UniSTSGRCh37
Build 361280,066,513 - 80,066,626RGDNCBI36
Celera1281,208,602 - 81,208,715RGD
Cytogenetic Map12q21.31UniSTS
HuRef1278,599,328 - 78,599,441UniSTS
GeneMap99-GB4 RH Map12321.31UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1426
Count of miRNA genes:669
Interacting mature miRNAs:752
Transcripts:ENST00000261206, ENST00000546664, ENST00000548058, ENST00000548324, ENST00000548387, ENST00000549175, ENST00000551745
Prediction methods: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 4 37 445 228 4 229 894 4 542 193 396 126 377 521
Low 2162 2288 1261 382 690 221 3350 2130 3146 189 981 1361 164 1 827 2250 5 2
Below cutoff 177 658 11 11 910 9 74 54 28 22 30 57 4 17

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001330242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_944720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC078920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC078955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC134506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI022900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX764480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX764482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA756631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC890635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC895167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261206   ⟹   ENSP00000261206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1281,078,057 - 81,255,466 (+)Ensembl
RefSeq Acc Id: ENST00000546664   ⟹   ENSP00000449507
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1281,174,832 - 81,220,031 (+)Ensembl
RefSeq Acc Id: ENST00000548058   ⟹   ENSP00000449535
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1281,078,079 - 81,261,210 (+)Ensembl
RefSeq Acc Id: ENST00000548324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1281,151,651 - 81,255,803 (+)Ensembl
RefSeq Acc Id: ENST00000548387
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1281,134,795 - 81,143,502 (+)Ensembl
RefSeq Acc Id: ENST00000549175   ⟹   ENSP00000447748
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1280,937,815 - 81,134,963 (+)Ensembl
RefSeq Acc Id: ENST00000551745
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1281,174,558 - 81,199,822 (+)Ensembl
RefSeq Acc Id: ENST00000616449
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1280,936,414 - 80,940,246 (+)Ensembl
RefSeq Acc Id: ENST00000650935
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1280,937,859 - 80,951,061 (+)Ensembl
RefSeq Acc Id: ENST00000651903
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1280,944,046 - 80,949,589 (+)Ensembl
RefSeq Acc Id: NM_001330242   ⟹   NP_001317171
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,078,079 - 81,261,210 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330243   ⟹   NP_001317172
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,078,079 - 81,261,210 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024560   ⟹   NP_078836
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,078,079 - 81,261,210 (+)NCBI
GRCh371281,471,797 - 81,650,538 (+)NCBI
Build 361279,995,940 - 80,173,713 (+)NCBI Archive
Celera1281,138,032 - 81,316,367 (+)RGD
HuRef1278,528,812 - 78,706,348 (+)ENTREZGENE
CHM1_11281,438,372 - 81,616,058 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005269151   ⟹   XP_005269208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,078,037 - 81,216,972 (+)NCBI
GRCh371281,471,797 - 81,650,538 (+)NCBI
Sequence:
RefSeq Acc Id: XR_944720
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,078,037 - 81,253,401 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_078836   ⟸   NM_024560
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9H6R3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005269208   ⟸   XM_005269151
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001317172   ⟸   NM_001330243
- Peptide Label: isoform 3
- UniProtKB: Q9H6R3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001317171   ⟸   NM_001330242
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9H6R3 (UniProtKB/Swiss-Prot),   A0A0B4J1R2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000449507   ⟸   ENST00000546664
RefSeq Acc Id: ENSP00000449535   ⟸   ENST00000548058
RefSeq Acc Id: ENSP00000447748   ⟸   ENST00000549175
RefSeq Acc Id: ENSP00000261206   ⟸   ENST00000261206
Protein Domains
ACAS_N   AMP-binding   AMP-binding_C

Promoters
RGD ID:7224915
Promoter ID:EPDNEW_H18202
Type:initiation region
Name:ACSS3_2
Description:acyl-CoA synthetase short-chain family member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18203  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,077,516 - 81,077,576EPDNEW
RGD ID:7224913
Promoter ID:EPDNEW_H18203
Type:initiation region
Name:ACSS3_1
Description:acyl-CoA synthetase short-chain family member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18202  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381281,078,079 - 81,078,139EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1 copy number loss See cases [RCV000051313] Chr12:70337484..81761145 [GRCh38]
Chr12:70731264..82154924 [GRCh37]
Chr12:69017531..80679055 [NCBI36]
Chr12:12q15-21.31
pathogenic
GRCh38/hg38 12q21.31(chr12:80266605-85253555)x1 copy number loss See cases [RCV000051315] Chr12:80266605..85253555 [GRCh38]
Chr12:80660385..85647333 [GRCh37]
Chr12:79184516..84171464 [NCBI36]
Chr12:12q21.31
pathogenic
GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3 copy number gain See cases [RCV000053684] Chr12:77564757..85370822 [GRCh38]
Chr12:77958537..85764600 [GRCh37]
Chr12:76482668..84288731 [NCBI36]
Chr12:12q21.2-21.31
pathogenic
NM_024560.2(ACSS3):c.1442G>A (p.Gly481Glu) single nucleotide variant Malignant melanoma [RCV000070236] Chr12:81216988 [GRCh38]
Chr12:81610767 [GRCh37]
Chr12:80134898 [NCBI36]
Chr12:12q21.31
not provided
NM_024560.2(ACSS3):c.1280G>A (p.Arg427Gln) single nucleotide variant Malignant melanoma [RCV000062612] Chr12:81199370 [GRCh38]
Chr12:81593149 [GRCh37]
Chr12:80117280 [NCBI36]
Chr12:12q21.31
not provided
NM_024560.2(ACSS3):c.1098+1158A>C single nucleotide variant Lung cancer [RCV000111349] Chr12:81153254 [GRCh38]
Chr12:81547033 [GRCh37]
Chr12:12q21.31
uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1 copy number loss See cases [RCV000141023] Chr12:76566873..82021089 [GRCh38]
Chr12:76960653..82414868 [GRCh37]
Chr12:75484784..80938999 [NCBI36]
Chr12:12q21.2-21.31
likely pathogenic
GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1 copy number loss See cases [RCV000143099] Chr12:73485697..92795805 [GRCh38]
Chr12:73879477..93189581 [GRCh37]
Chr12:72165744..91713712 [NCBI36]
Chr12:12q21.1-22
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12q21.31(chr12:80927874-81503412)x3 copy number gain Ductal breast carcinoma [RCV000207319] Chr12:80927874..81503412 [GRCh37]
Chr12:12q21.31
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12q15-21.33(chr12:69608090-89629345)x1 copy number loss not provided [RCV000737927] Chr12:69608090..89629345 [GRCh37]
Chr12:12q15-21.33
pathogenic
GRCh37/hg19 12q21.31(chr12:81327644-82029969)x1 copy number loss not provided [RCV000849716] Chr12:81327644..82029969 [GRCh37]
Chr12:12q21.31
uncertain significance
GRCh37/hg19 12q21.2-21.31(chr12:79302790-82128250)x1 copy number loss not provided [RCV001006516] Chr12:79302790..82128250 [GRCh37]
Chr12:12q21.2-21.31
uncertain significance
GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1 copy number loss not provided [RCV000848027] Chr12:77737623..94330526 [GRCh37]
Chr12:12q21.2-22
pathogenic
GRCh37/hg19 12q21.31(chr12:81643220-81734161)x1 copy number loss not provided [RCV000846607] Chr12:81643220..81734161 [GRCh37]
Chr12:12q21.31
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24723 AgrOrtholog
COSMIC ACSS3 COSMIC
Ensembl Genes ENSG00000111058 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261206 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000447748 UniProtKB/TrEMBL
  ENSP00000449507 UniProtKB/TrEMBL
  ENSP00000449535 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000261206 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000546664 UniProtKB/TrEMBL
  ENST00000548058 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000549175 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.12780 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000111058 GTEx
HGNC ID HGNC:24723 ENTREZGENE
Human Proteome Map ACSS3 Human Proteome Map
InterPro ACAS_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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:79611 UniProtKB/Swiss-Prot
NCBI Gene 79611 ENTREZGENE
OMIM 614356 OMIM
Pfam ACAS_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-binding_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162375534 PharmGKB
PROSITE AMP_BINDING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0B4J1R2 ENTREZGENE, UniProtKB/TrEMBL
  ACSS3_HUMAN UniProtKB/Swiss-Prot
  F8VZB4_HUMAN UniProtKB/TrEMBL
  H0YII9_HUMAN UniProtKB/TrEMBL
  Q9H6R3 ENTREZGENE
UniProt Secondary Q8NC66 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-06-20 ACSS3  acyl-CoA synthetase short chain family member 3    acyl-CoA synthetase short-chain family member 3  Symbol and/or name change 5135510 APPROVED