ABHD5 (abhydrolase domain containing 5, lysophosphatidic acid acyltransferase) - Rat Genome Database
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Gene: ABHD5 (abhydrolase domain containing 5, lysophosphatidic acid acyltransferase) Homo sapiens
Analyze
Symbol: ABHD5
Name: abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
RGD ID: 1342875
HGNC Page HGNC
Description: Exhibits 1-acylglycerol-3-phosphate O-acyltransferase activity. Involved in negative regulation of sequestering of triglyceride; phosphatidic acid biosynthetic process; and positive regulation of triglyceride catabolic process. Localizes to lipid droplet. Implicated in autosomal recessive congenital ichthyosis 1 and neutral lipid storage disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 1-acylglycerol-3-phosphate O-acyltransferase ABHD5; abhydrolase domain containing 5; abhydrolase domain-containing protein 5; CDS; CGI58; IECN2; lipid droplet-binding protein CGI-58; MGC8731; NCIE2; truncated abhydrolase domain-containing protein 5
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 Ensembl343,690,108 - 43,734,371 (+)EnsemblGRCh38hg38GRCh38
GRCh38343,690,870 - 43,734,371 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37343,732,362 - 43,775,863 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37343,732,375 - 43,764,217 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36343,707,379 - 43,735,296 (+)NCBINCBI36hg18NCBI36
Build 34343,707,378 - 43,735,295NCBI
Celera343,670,699 - 43,702,531 (+)NCBI
Cytogenetic Map3p21.33NCBI
HuRef343,775,563 - 43,807,394 (+)NCBIHuRef
CHM1_1343,682,530 - 43,714,373 (+)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-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dicrotophos  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
indometacin  (EXP)
isotretinoin  (EXP)
ketamine  (ISO)
levonorgestrel  (EXP)
menadione  (EXP)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
paracetamol  (EXP,ISO)
phenobarbital  (EXP,ISO)
phenytoin  (ISO)
pirinixic acid  (EXP,ISO)
progesterone  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
raloxifene  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
testosterone undecanoate  (EXP)
thioacetamide  (ISO)
tremolite asbestos  (ISO)
triphenyl phosphate  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc sulfate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:10810093   PMID:12477932   PMID:15136565   PMID:15489334   PMID:15967942   PMID:16679289   PMID:17189257   PMID:17308334   PMID:17495960   PMID:17631826  
PMID:18339307   PMID:18606822   PMID:18832586   PMID:19061969   PMID:19401457   PMID:19717842   PMID:19801371   PMID:20307695   PMID:20370797   PMID:20520629   PMID:21122093   PMID:21498505  
PMID:21757733   PMID:21873635   PMID:22245374   PMID:22373837   PMID:22383684   PMID:23297223   PMID:23557589   PMID:24879803   PMID:25054327   PMID:25315780   PMID:25421061   PMID:25482557  
PMID:25682902   PMID:26330055   PMID:26350461   PMID:26353074   PMID:26547112   PMID:26871637   PMID:27124600   PMID:27559856   PMID:28514442   PMID:28700943   PMID:28827091   PMID:28877685  
PMID:29023646   PMID:29026202   PMID:29475365   PMID:29634390   PMID:29843625   PMID:30021884   PMID:30527376   PMID:30842415   PMID:30954460   PMID:31439546   PMID:31497752   PMID:31742248  
PMID:32046372   PMID:32296183   PMID:32542055   PMID:32705602  


Genomics

Comparative Map Data
ABHD5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl343,690,108 - 43,734,371 (+)EnsemblGRCh38hg38GRCh38
GRCh38343,690,870 - 43,734,371 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37343,732,362 - 43,775,863 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37343,732,375 - 43,764,217 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36343,707,379 - 43,735,296 (+)NCBINCBI36hg18NCBI36
Build 34343,707,378 - 43,735,295NCBI
Celera343,670,699 - 43,702,531 (+)NCBI
Cytogenetic Map3p21.33NCBI
HuRef343,775,563 - 43,807,394 (+)NCBIHuRef
CHM1_1343,682,530 - 43,714,373 (+)NCBICHM1_1
Abhd5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm399122,180,681 - 122,210,589 (+)NCBIGRCm39mm39
GRCm389122,351,616 - 122,381,524 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl9122,351,608 - 122,381,524 (+)EnsemblGRCm38mm10GRCm38
MGSCv379122,260,734 - 122,290,641 (+)NCBIGRCm37mm9NCBIm37
MGSCv369122,200,314 - 122,230,221 (+)NCBImm8
Celera9122,816,005 - 122,845,910 (+)NCBICelera
Cytogenetic Map9F4NCBI
Abhd5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.28122,000,241 - 122,026,447 (+)NCBI
Rnor_6.0 Ensembl8130,973,201 - 131,001,458 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.08130,973,222 - 131,001,448 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.08130,136,551 - 130,164,777 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.48122,148,937 - 122,173,147 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.18122,168,673 - 122,192,884 (+)NCBI
Celera8121,121,379 - 121,145,558 (+)NCBICelera
Cytogenetic Map8q32NCBI
Abhd5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542027,482,709 - 27,508,360 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542027,484,500 - 27,508,360 (-)NCBIChiLan1.0ChiLan1.0
ABHD5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1344,640,215 - 44,669,885 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl344,640,215 - 44,669,885 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0343,580,752 - 43,612,637 (+)NCBIMhudiblu_PPA_v0panPan3
ABHD5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl232,586,678 - 2,737,583 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1232,584,813 - 2,619,204 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Abhd5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049366951,644,758 - 1,672,024 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABHD5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1327,006,201 - 27,056,744 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11327,006,331 - 27,053,760 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21329,834,219 - 29,881,698 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap13q12-q22NCBI
ABHD5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1225,109,699 - 5,139,021 (+)NCBI
ChlSab1.1 Ensembl225,109,765 - 5,137,673 (+)Ensembl
Abhd5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473076,414,732 - 76,436,177 (-)NCBI

Position Markers
STS-F10866  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37343,763,952 - 43,764,029UniSTSGRCh37
Build 36343,738,956 - 43,739,033RGDNCBI36
Celera343,702,266 - 43,702,343RGD
Cytogenetic Map3p21UniSTS
HuRef343,807,129 - 43,807,206UniSTS
GeneMap99-GB4 RH Map3143.05UniSTS
SHGC-76877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37343,762,264 - 43,762,364UniSTSGRCh37
Build 36343,737,268 - 43,737,368RGDNCBI36
Celera343,700,578 - 43,700,678RGD
Cytogenetic Map3p21UniSTS
HuRef343,805,441 - 43,805,541UniSTS
TNG Radiation Hybrid Map327581.0UniSTS
GeneMap99-GB4 RH Map3143.16UniSTS
RH69765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37343,754,252 - 43,754,405UniSTSGRCh37
Build 36343,729,256 - 43,729,409RGDNCBI36
Celera343,692,564 - 43,692,717RGD
Cytogenetic Map3p21UniSTS
HuRef343,797,427 - 43,797,580UniSTS
GeneMap99-GB4 RH Map3143.89UniSTS
NCBI RH Map3403.7UniSTS
RH79809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37343,763,953 - 43,764,201UniSTSGRCh37
Build 36343,738,957 - 43,739,205RGDNCBI36
Celera343,702,267 - 43,702,515RGD
Cytogenetic Map3p21UniSTS
HuRef343,807,130 - 43,807,378UniSTS
GeneMap99-GB4 RH Map3149.55UniSTS
SHGC-57882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37343,762,499 - 43,762,606UniSTSGRCh37
Build 36343,737,503 - 43,737,610RGDNCBI36
Celera343,700,813 - 43,700,920RGD
Cytogenetic Map3p21UniSTS
HuRef343,805,676 - 43,805,783UniSTS
TNG Radiation Hybrid Map327573.0UniSTS
SHGC-76879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37343,760,843 - 43,760,971UniSTSGRCh37
Build 36343,735,847 - 43,735,975RGDNCBI36
Celera343,699,156 - 43,699,284RGD
Cytogenetic Map3p21UniSTS
HuRef343,804,020 - 43,804,148UniSTS
TNG Radiation Hybrid Map327573.0UniSTS
GeneMap99-GB4 RH Map3143.16UniSTS
Whitehead-RH Map3171.2UniSTS
STS-N63539  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37343,762,660 - 43,762,804UniSTSGRCh37
Build 36343,737,664 - 43,737,808RGDNCBI36
Celera343,700,974 - 43,701,118RGD
Cytogenetic Map3p21UniSTS
HuRef343,805,837 - 43,805,981UniSTS
GeneMap99-GB4 RH Map3144.99UniSTS
D3S4348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37343,743,992 - 43,744,225UniSTSGRCh37
Build 36343,718,996 - 43,719,229RGDNCBI36
Celera343,682,314 - 43,682,547RGD
HuRef343,787,167 - 43,787,400UniSTS
WI-14732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37343,762,035 - 43,762,162UniSTSGRCh37
Build 36343,737,039 - 43,737,166RGDNCBI36
Celera343,700,349 - 43,700,476RGD
Cytogenetic Map3p21UniSTS
HuRef343,805,212 - 43,805,339UniSTS
GeneMap99-GB4 RH Map3143.89UniSTS
Whitehead-RH Map3168.0UniSTS
D3S3021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37343,732,502 - 43,732,764UniSTSGRCh37
Build 36343,707,506 - 43,707,768RGDNCBI36
Celera343,670,826 - 43,671,088RGD
Cytogenetic Map3p21UniSTS
HuRef343,775,690 - 43,775,952UniSTS
SHGC-76893  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37343,761,053 - 43,761,156UniSTSGRCh37
Build 36343,736,057 - 43,736,160RGDNCBI36
Celera343,699,366 - 43,699,469RGD
Cytogenetic Map3p21UniSTS
HuRef343,804,230 - 43,804,333UniSTS
TNG Radiation Hybrid Map327573.0UniSTS
GeneMap99-GB4 RH Map3145.01UniSTS
NCBI RH Map3403.7UniSTS
SHGC-76892  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37343,760,001 - 43,760,140UniSTSGRCh37
Build 36343,735,005 - 43,735,144RGDNCBI36
Celera343,698,314 - 43,698,453RGD
Cytogenetic Map3p21UniSTS
HuRef343,803,178 - 43,803,317UniSTS
TNG Radiation Hybrid Map327581.0UniSTS
GeneMap99-GB4 RH Map3145.01UniSTS
NCBI RH Map3403.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:986
Count of miRNA genes:678
Interacting mature miRNAs:756
Transcripts:ENST00000013894, ENST00000413300, ENST00000454293, ENST00000456453, ENST00000458276, ENST00000463153, ENST00000486764
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 997 1341 867 266 1046 117 2696 735 547 199 832 1454 159 1131 1232 4
Low 1442 1638 859 358 905 348 1660 1450 3187 220 627 159 15 1 73 1556 2 2
Below cutoff 12 12 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001355186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_158560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF007132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF151816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL606838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG721387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU622105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM474790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM474791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM474792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM474793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF169942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM659022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN242826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000013894   ⟹   ENSP00000013894
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl343,690,951 - 43,714,956 (+)Ensembl
RefSeq Acc Id: ENST00000413300   ⟹   ENSP00000392159
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl343,711,709 - 43,718,606 (+)Ensembl
RefSeq Acc Id: ENST00000454293   ⟹   ENSP00000412014
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl343,691,094 - 43,734,358 (+)Ensembl
RefSeq Acc Id: ENST00000456453   ⟹   ENSP00000391582
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl343,690,113 - 43,702,584 (+)Ensembl
RefSeq Acc Id: ENST00000458276   ⟹   ENSP00000390849
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl343,690,880 - 43,718,797 (+)Ensembl
RefSeq Acc Id: ENST00000463153   ⟹   ENSP00000495570
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl343,717,671 - 43,734,371 (+)Ensembl
RefSeq Acc Id: ENST00000486764
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl343,690,892 - 43,699,745 (+)Ensembl
RefSeq Acc Id: ENST00000642351   ⟹   ENSP00000494478
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl343,691,257 - 43,719,826 (+)Ensembl
RefSeq Acc Id: ENST00000643140   ⟹   ENSP00000495588
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl343,690,900 - 43,719,905 (+)Ensembl
RefSeq Acc Id: ENST00000643477   ⟹   ENSP00000496220
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl343,690,972 - 43,720,811 (+)Ensembl
RefSeq Acc Id: ENST00000643500   ⟹   ENSP00000494735
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl343,690,906 - 43,718,762 (+)Ensembl
RefSeq Acc Id: ENST00000643520
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl343,690,108 - 43,719,541 (+)Ensembl
RefSeq Acc Id: ENST00000644371   ⟹   ENSP00000495778
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl343,690,938 - 43,722,725 (+)Ensembl
RefSeq Acc Id: ENST00000646378   ⟹   ENSP00000495826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl343,690,969 - 43,719,837 (+)Ensembl
RefSeq Acc Id: ENST00000646799   ⟹   ENSP00000494829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl343,690,984 - 43,719,013 (+)Ensembl
RefSeq Acc Id: ENST00000649763   ⟹   ENSP00000497701
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl343,690,893 - 43,734,364 (+)Ensembl
RefSeq Acc Id: NM_001355186   ⟹   NP_001342115
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38343,690,938 - 43,734,371 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365649   ⟹   NP_001352578
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38343,691,098 - 43,722,725 (+)NCBI
RefSeq Acc Id: NM_001365650   ⟹   NP_001352579
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38343,690,870 - 43,722,725 (+)NCBI
RefSeq Acc Id: NM_016006   ⟹   NP_057090
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38343,690,938 - 43,722,725 (+)NCBI
GRCh37343,732,375 - 43,764,217 (+)ENTREZGENE
Build 36343,707,379 - 43,735,296 (+)NCBI Archive
HuRef343,775,563 - 43,807,394 (+)ENTREZGENE
CHM1_1343,682,530 - 43,714,373 (+)NCBI
Sequence:
RefSeq Acc Id: NR_158560
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38343,690,870 - 43,722,725 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_057090   ⟸   NM_016006
- Peptide Label: isoform a
- UniProtKB: Q8WTS1 (UniProtKB/Swiss-Prot),   A0A0S2Z5D6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001342115   ⟸   NM_001355186
- Peptide Label: isoform a
- Sequence:
RefSeq Acc Id: NP_001352579   ⟸   NM_001365650
- Peptide Label: isoform c
RefSeq Acc Id: NP_001352578   ⟸   NM_001365649
- Peptide Label: isoform b
RefSeq Acc Id: ENSP00000495570   ⟸   ENST00000463153
RefSeq Acc Id: ENSP00000497701   ⟸   ENST00000649763
RefSeq Acc Id: ENSP00000392159   ⟸   ENST00000413300
RefSeq Acc Id: ENSP00000412014   ⟸   ENST00000454293
RefSeq Acc Id: ENSP00000391582   ⟸   ENST00000456453
RefSeq Acc Id: ENSP00000390849   ⟸   ENST00000458276
RefSeq Acc Id: ENSP00000494478   ⟸   ENST00000642351
RefSeq Acc Id: ENSP00000495588   ⟸   ENST00000643140
RefSeq Acc Id: ENSP00000494735   ⟸   ENST00000643500
RefSeq Acc Id: ENSP00000496220   ⟸   ENST00000643477
RefSeq Acc Id: ENSP00000495778   ⟸   ENST00000644371
RefSeq Acc Id: ENSP00000013894   ⟸   ENST00000013894
RefSeq Acc Id: ENSP00000495826   ⟸   ENST00000646378
RefSeq Acc Id: ENSP00000494829   ⟸   ENST00000646799
Protein Domains
AB hydrolase-1

Promoters
RGD ID:6864110
Promoter ID:EPDNEW_H5220
Type:initiation region
Name:ABHD5_1
Description:abhydrolase domain containing 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38343,690,938 - 43,690,998EPDNEW
RGD ID:6800513
Promoter ID:HG_KWN:44647
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000319123
Position:
Human AssemblyChrPosition (strand)Source
Build 36343,706,066 - 43,706,566 (+)MPROMDB
RGD ID:6800520
Promoter ID:HG_KWN:44648
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:OTTHUMT00000256644,   OTTHUMT00000319120,   OTTHUMT00000319121,   OTTHUMT00000319122,   OTTHUMT00000344377,   OTTHUMT00000344378
Position:
Human AssemblyChrPosition (strand)Source
Build 36343,707,221 - 43,707,721 (+)MPROMDB
RGD ID:6800514
Promoter ID:HG_KWN:44651
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000344438
Position:
Human AssemblyChrPosition (strand)Source
Build 36343,734,126 - 43,734,626 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_016006.6(ABHD5):c.774-1G>A single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000005676] Chr3:43717670 [GRCh38]
Chr3:43759162 [GRCh37]
Chr3:3p21.33		 pathogenic
NM_016006.6(ABHD5):c.134-2A>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000005678] Chr3:43702213 [GRCh38]
Chr3:43743705 [GRCh37]
Chr3:3p21.33		 pathogenic
NM_016006.6(ABHD5):c.16G>T (p.Glu6Ter) single nucleotide variant not provided [RCV000627269] Chr3:43691008 [GRCh38]
Chr3:43732500 [GRCh37]
Chr3:3p21.33		 pathogenic
NM_016006.6(ABHD5):c.98C>G (p.Ser33Ter) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000005677] Chr3:43699326 [GRCh38]
Chr3:43740818 [GRCh37]
Chr3:3p21.33		 pathogenic
NM_016006.6(ABHD5):c.389A>C (p.Gln130Pro) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000005679] Chr3:43702470 [GRCh38]
Chr3:43743962 [GRCh37]
Chr3:3p21.33		 pathogenic
NM_016006.6(ABHD5):c.19G>A (p.Glu7Lys) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000005680] Chr3:43691011 [GRCh38]
Chr3:43732503 [GRCh37]
Chr3:3p21.33		 pathogenic
NM_016006.6(ABHD5):c.594dup (p.Arg199fs) duplication Triglyceride storage disease with ichthyosis [RCV000005681] Chr3:43711795..43711796 [GRCh38]
Chr3:43753287..43753288 [GRCh37]
Chr3:3p21.33		 pathogenic
NM_016006.6(ABHD5):c.778G>A (p.Glu260Lys) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000005682] Chr3:43717675 [GRCh38]
Chr3:43759167 [GRCh37]
Chr3:3p21.33		 pathogenic
NM_016006.6(ABHD5):c.42_43AG[2] (p.Arg16fs) microsatellite Triglyceride storage disease with ichthyosis [RCV000005683] Chr3:43691033..43691034 [GRCh38]
Chr3:43732525..43732526 [GRCh37]
Chr3:3p21.33		 pathogenic
NM_016006.6(ABHD5):c.*1662A>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000260418] Chr3:43720194 [GRCh38]
Chr3:43761686 [GRCh37]
Chr3:3p21.33		 benign|likely benign
NM_016006.6(ABHD5):c.*1757A>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000262126] Chr3:43720289 [GRCh38]
Chr3:43761781 [GRCh37]
Chr3:3p21.33		 benign|likely benign
NM_016006.6(ABHD5):c.*2064G>C single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000283354] Chr3:43720596 [GRCh38]
Chr3:43762088 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*3680A>C single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000279074] Chr3:43722212 [GRCh38]
Chr3:43763704 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.12G>A (p.Glu4=) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000281316]|not provided [RCV000829589] Chr3:43691004 [GRCh38]
Chr3:43732496 [GRCh37]
Chr3:3p21.33		 benign|likely benign
NM_016006.6(ABHD5):c.*707A>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000282264] Chr3:43719239 [GRCh38]
Chr3:43760731 [GRCh37]
Chr3:3p21.33		 uncertain significance
GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3 copy number gain See cases [RCV000240519] Chr3:37028313..49929220 [GRCh37]
Chr3:3p22.2-21.31		 likely pathogenic
NM_016006.6(ABHD5):c.*4189C>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000269508] Chr3:43722721 [GRCh38]
Chr3:43764213 [GRCh37]
Chr3:3p21.33		 likely benign|uncertain significance
NM_001365650.1(ABHD5):c.-68C>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000269288] Chr3:43690925 [GRCh38]
Chr3:43732417 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*2926G>A single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000269829] Chr3:43721458 [GRCh38]
Chr3:43762950 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.806C>T (p.Pro269Leu) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000269756] Chr3:43717703 [GRCh38]
Chr3:43759195 [GRCh37]
Chr3:3p21.33		 uncertain significance
GRCh37/hg19 3p22.1-21.31(chr3:41104508-44636698)x1 copy number loss See cases [RCV000240302] Chr3:41104508..44636698 [GRCh37]
Chr3:3p22.1-21.31		 pathogenic
NM_016006.6(ABHD5):c.1025A>G (p.Lys342Arg) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000266256] Chr3:43718507 [GRCh38]
Chr3:43759999 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*125A>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000267254] Chr3:43718657 [GRCh38]
Chr3:43760149 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*2324G>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000298873] Chr3:43720856 [GRCh38]
Chr3:43762348 [GRCh37]
Chr3:3p21.33		 benign|likely benign
NM_016006.6(ABHD5):c.228T>G (p.Thr76=) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000299035] Chr3:43702309 [GRCh38]
Chr3:43743801 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*3952T>C single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000313988] Chr3:43722484 [GRCh38]
Chr3:43763976 [GRCh37]
Chr3:3p21.33		 benign|likely benign
NM_016006.6(ABHD5):c.640C>A (p.Leu214Ile) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000314476] Chr3:43711842 [GRCh38]
Chr3:43753334 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.345T>C (p.Ser115=) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000351595] Chr3:43702426 [GRCh38]
Chr3:43743918 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*1110G>C single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000352551] Chr3:43719642 [GRCh38]
Chr3:43761134 [GRCh37]
Chr3:3p21.33		 benign|likely benign
NM_016006.6(ABHD5):c.*2463A>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000300119] Chr3:43720995 [GRCh38]
Chr3:43762487 [GRCh37]
Chr3:3p21.33		 benign|likely benign
NM_016006.6(ABHD5):c.*1729T>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000316119] Chr3:43720261 [GRCh38]
Chr3:43761753 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*3253A>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000377144] Chr3:43721785 [GRCh38]
Chr3:43763277 [GRCh37]
Chr3:3p21.33		 benign|likely benign
NM_016006.6(ABHD5):c.-19C>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000377993]|not provided [RCV000829588] Chr3:43690974 [GRCh38]
Chr3:43732466 [GRCh37]
Chr3:3p21.33		 benign|likely benign
NM_016006.6(ABHD5):c.*3755G>A single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000400356] Chr3:43722287 [GRCh38]
Chr3:43763779 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_001365650.1(ABHD5):c.-64G>A single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000379202] Chr3:43690929 [GRCh38]
Chr3:43732421 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.39C>T (p.Thr13=) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000401154]|not provided [RCV000882146] Chr3:43691031 [GRCh38]
Chr3:43732523 [GRCh37]
Chr3:3p21.33		 benign|likely benign|uncertain significance
NM_016006.6(ABHD5):c.*281C>A single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000317774] Chr3:43718813 [GRCh38]
Chr3:43760305 [GRCh37]
Chr3:3p21.33		 benign|likely benign
NM_016006.6(ABHD5):c.*879G>A single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000318553] Chr3:43719411 [GRCh38]
Chr3:43760903 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*1756G>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000356909] Chr3:43720288 [GRCh38]
Chr3:43761780 [GRCh37]
Chr3:3p21.33		 benign|likely benign
NM_016006.6(ABHD5):c.*38T>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000380356] Chr3:43718570 [GRCh38]
Chr3:43760062 [GRCh37]
Chr3:3p21.33		 benign|likely benign
NM_016006.6(ABHD5):c.-30A>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000287137] Chr3:43690963 [GRCh38]
Chr3:43732455 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.26A>G (p.Asp9Gly) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000338649]|not provided [RCV000907603] Chr3:43691018 [GRCh38]
Chr3:43732510 [GRCh37]
Chr3:3p21.33		 likely benign|uncertain significance
NM_016006.6(ABHD5):c.*1568T>C single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000305153] Chr3:43720100 [GRCh38]
Chr3:43761592 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*29G>C single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000321155] Chr3:43718561 [GRCh38]
Chr3:43760053 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.-24C>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000339676] Chr3:43690969 [GRCh38]
Chr3:43732461 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*1613T>C single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000359846] Chr3:43720145 [GRCh38]
Chr3:43761637 [GRCh37]
Chr3:3p21.33		 benign|likely benign
NM_016006.6(ABHD5):c.*2445T>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000407104] Chr3:43720977 [GRCh38]
Chr3:43762469 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*3372A>C single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000342175] Chr3:43721904 [GRCh38]
Chr3:43763396 [GRCh37]
Chr3:3p21.33		 likely benign|uncertain significance
NM_016006.6(ABHD5):c.*1834C>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000385622] Chr3:43720366 [GRCh38]
Chr3:43761858 [GRCh37]
Chr3:3p21.33		 benign|likely benign
NM_016006.6(ABHD5):c.*1011G>C single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000292969] Chr3:43719543 [GRCh38]
Chr3:43761035 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*2137A>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000343223] Chr3:43720669 [GRCh38]
Chr3:43762161 [GRCh37]
Chr3:3p21.33		 benign|uncertain significance
NM_016006.6(ABHD5):c.*1346_*1348del deletion Triglyceride storage disease with ichthyosis [RCV000343926] Chr3:43719877..43719879 [GRCh38]
Chr3:43761369..43761371 [GRCh37]
Chr3:3p21.33		 benign
NM_016006.6(ABHD5):c.*4147G>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000364090] Chr3:43722679 [GRCh38]
Chr3:43764171 [GRCh37]
Chr3:3p21.33		 benign|likely benign
NM_016006.6(ABHD5):c.*1009T>A single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000387052] Chr3:43719541 [GRCh38]
Chr3:43761033 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*1417A>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000308938] Chr3:43719949 [GRCh38]
Chr3:43761441 [GRCh37]
Chr3:3p21.33		 benign
NM_016006.6(ABHD5):c.*2935C>A single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000324938] Chr3:43721467 [GRCh38]
Chr3:43762959 [GRCh37]
Chr3:3p21.33		 benign|likely benign
NM_001365650.1(ABHD5):c.-65G>C single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000326658] Chr3:43690928 [GRCh38]
Chr3:43732420 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*1957G>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000346562] Chr3:43720489 [GRCh38]
Chr3:43761981 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*2508A>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000368883] Chr3:43721040 [GRCh38]
Chr3:43762532 [GRCh37]
Chr3:3p21.33		 benign|uncertain significance
NM_016006.6(ABHD5):c.662-10T>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000369099] Chr3:43714937 [GRCh38]
Chr3:43756429 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.430T>C (p.Leu144=) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000392242]|not provided [RCV000923879] Chr3:43702511 [GRCh38]
Chr3:43744003 [GRCh37]
Chr3:3p21.33		 likely benign|uncertain significance
NM_016006.6(ABHD5):c.*3833G>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000392391] Chr3:43722365 [GRCh38]
Chr3:43763857 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.885C>T (p.Gly295=) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000310864] Chr3:43717782 [GRCh38]
Chr3:43759274 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*3806T>C single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000348856] Chr3:43722338 [GRCh38]
Chr3:43763830 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*1566G>A single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000392813] Chr3:43720098 [GRCh38]
Chr3:43761590 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*1758_*1759insG insertion Triglyceride storage disease with ichthyosis [RCV000331278] Chr3:43720290..43720291 [GRCh38]
Chr3:43761782..43761783 [GRCh37]
Chr3:3p21.33		 likely benign
NM_016006.6(ABHD5):c.*1863G>A single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000332306] Chr3:43720395 [GRCh38]
Chr3:43761887 [GRCh37]
Chr3:3p21.33		 benign|likely benign
NM_016006.6(ABHD5):c.*3050_*3051del deletion Triglyceride storage disease with ichthyosis [RCV000272034] Chr3:43721563..43721564 [GRCh38]
Chr3:43763055..43763056 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*2542A>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000273512] Chr3:43721074 [GRCh38]
Chr3:43762566 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*2304G>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000399729] Chr3:43720836 [GRCh38]
Chr3:43762328 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*1934del deletion Triglyceride storage disease with ichthyosis [RCV000291714] Chr3:43720465 [GRCh38]
Chr3:43761957 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*2057A>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000400508] Chr3:43720589 [GRCh38]
Chr3:43762081 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*1895C>A single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000382260] Chr3:43720427 [GRCh38]
Chr3:43761919 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.906C>A (p.Gly302=) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000365407] Chr3:43717803 [GRCh38]
Chr3:43759295 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*2717dup duplication Triglyceride storage disease with ichthyosis [RCV000333227] Chr3:43721240..43721241 [GRCh38]
Chr3:43762732..43762733 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_001365650.1(ABHD5):c.-91C>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000384907] Chr3:43690902 [GRCh38]
Chr3:43732394 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*2965C>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000385197] Chr3:43721497 [GRCh38]
Chr3:43762989 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*2718del deletion Triglyceride storage disease with ichthyosis [RCV000369170] Chr3:43721250 [GRCh38]
Chr3:43762742 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*1860del deletion Triglyceride storage disease with ichthyosis [RCV000296015] Chr3:43720391 [GRCh38]
Chr3:43761883 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*3186C>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000322566] Chr3:43721718 [GRCh38]
Chr3:43763210 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_001365650.1(ABHD5):c.-114A>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000265069] Chr3:43690879 [GRCh38]
Chr3:43732371 [GRCh37]
Chr3:3p21.33		 likely benign
NM_016006.6(ABHD5):c.*3730C>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000338476] Chr3:43722262 [GRCh38]
Chr3:43763754 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*2392dup duplication Triglyceride storage disease with ichthyosis [RCV000353701] Chr3:43720912..43720913 [GRCh38]
Chr3:43762404..43762405 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*302T>A single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000372166] Chr3:43718834 [GRCh38]
Chr3:43760326 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*1201G>A single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000390336] Chr3:43719733 [GRCh38]
Chr3:43761225 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*3289_*3292ACAG[1] microsatellite Triglyceride storage disease with ichthyosis [RCV000287174] Chr3:43721821..43721824 [GRCh38]
Chr3:43763313..43763316 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*3671A>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000373533] Chr3:43722203 [GRCh38]
Chr3:43763695 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*1371A>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000392825] Chr3:43719903 [GRCh38]
Chr3:43761395 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*1265A>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000289409] Chr3:43719797 [GRCh38]
Chr3:43761289 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*3761A>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000312679] Chr3:43722293 [GRCh38]
Chr3:43763785 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*1466T>C single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000359086] Chr3:43719998 [GRCh38]
Chr3:43761490 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_001365650.1(ABHD5):c.-98C>A single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000328007] Chr3:43690895 [GRCh38]
Chr3:43732387 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.340C>T (p.Arg114Ter) single nucleotide variant not provided [RCV000627270] Chr3:43702421 [GRCh38]
Chr3:43743913 [GRCh37]
Chr3:3p21.33		 pathogenic
NM_016006.6(ABHD5):c.715A>G (p.Met239Val) single nucleotide variant not provided [RCV000437155] Chr3:43715000 [GRCh38]
Chr3:43756492 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.341G>T (p.Arg114Leu) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001149584]|not provided [RCV000514600] Chr3:43702422 [GRCh38]
Chr3:43743914 [GRCh37]
Chr3:3p21.33		 benign|likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_016006.6(ABHD5):c.588_591del (p.Trp197fs) deletion not provided [RCV000627657] Chr3:43711790..43711793 [GRCh38]
Chr3:43753282..43753285 [GRCh37]
Chr3:3p21.33		 pathogenic
NM_016006.6(ABHD5):c.344G>A (p.Ser115Asn) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000714557] Chr3:43702425 [GRCh38]
Chr3:43743917 [GRCh37]
Chr3:3p21.33		 uncertain significance
GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3 copy number gain not provided [RCV000682249] Chr3:16923595..45249923 [GRCh37]
Chr3:3p24.3-21.31		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_016006.6(ABHD5):c.934C>T (p.Arg312Ter) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV000758006] Chr3:43717831 [GRCh38]
Chr3:43759323 [GRCh37]
Chr3:3p21.33		 pathogenic
NM_016006.6(ABHD5):c.811G>A (p.Gly271Arg) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001003425] Chr3:43717708 [GRCh38]
Chr3:43759200 [GRCh37]
Chr3:3p21.33		 pathogenic
NM_016006.6(ABHD5):c.591G>A (p.Trp197Ter) single nucleotide variant not provided [RCV000760631] Chr3:43711793 [GRCh38]
Chr3:43753285 [GRCh37]
Chr3:3p21.33		 likely pathogenic
NM_016006.6(ABHD5):c.*3700T>C single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001147419] Chr3:43722232 [GRCh38]
Chr3:43763724 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*392T>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001148137] Chr3:43718924 [GRCh38]
Chr3:43760416 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*464A>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001148138] Chr3:43718996 [GRCh38]
Chr3:43760488 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*2206G>A single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001148249] Chr3:43720738 [GRCh38]
Chr3:43762230 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*3832C>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001148344] Chr3:43722364 [GRCh38]
Chr3:43763856 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*4188A>C single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001148347] Chr3:43722720 [GRCh38]
Chr3:43764212 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.215T>C (p.Ile72Thr) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001149583]|not provided [RCV000898864] Chr3:43702296 [GRCh38]
Chr3:43743788 [GRCh37]
Chr3:3p21.33		 benign|likely benign
NM_016006.6(ABHD5):c.48-4C>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001148034]|not provided [RCV000925064] Chr3:43699272 [GRCh38]
Chr3:43740764 [GRCh37]
Chr3:3p21.33		 likely benign|uncertain significance
NM_016006.6(ABHD5):c.774-7G>A single nucleotide variant not provided [RCV000924224] Chr3:43717664 [GRCh38]
Chr3:43759156 [GRCh37]
Chr3:3p21.33		 likely benign
NM_001346468.2(ANO10):c.-12+818A>T single nucleotide variant not provided [RCV000833209] Chr3:43690699 [GRCh38]
Chr3:43732191 [GRCh37]
Chr3:3p21.33		 likely benign
NM_016006.6(ABHD5):c.774-296A>G single nucleotide variant not provided [RCV000833210] Chr3:43717375 [GRCh38]
Chr3:43758867 [GRCh37]
Chr3:3p21.33		 likely benign
NM_001346468.2(ANO10):c.-12+766C>T single nucleotide variant not provided [RCV000829587] Chr3:43690751 [GRCh38]
Chr3:43732243 [GRCh37]
Chr3:3p21.33		 likely benign
NM_016006.6(ABHD5):c.34G>A (p.Asp12Asn) single nucleotide variant not provided [RCV000998062] Chr3:43691026 [GRCh38]
Chr3:43732518 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_001346468.2(ANO10):c.-12+772G>A single nucleotide variant not provided [RCV000829586] Chr3:43690745 [GRCh38]
Chr3:43732237 [GRCh37]
Chr3:3p21.33		 likely benign
NM_016006.6(ABHD5):c.*3292G>A single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001147418] Chr3:43721824 [GRCh38]
Chr3:43763316 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*916C>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001148140] Chr3:43719448 [GRCh38]
Chr3:43760940 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*96A>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001147239] Chr3:43718628 [GRCh38]
Chr3:43760120 [GRCh37]
Chr3:3p21.33		 likely benign
NM_016006.6(ABHD5):c.*2099A>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001148246] Chr3:43720631 [GRCh38]
Chr3:43762123 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*2349T>C single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001149806] Chr3:43720881 [GRCh38]
Chr3:43762373 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*2500A>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001149808] Chr3:43721032 [GRCh38]
Chr3:43762524 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*3875A>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001148345] Chr3:43722407 [GRCh38]
Chr3:43763899 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*154A>C single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001147240] Chr3:43718686 [GRCh38]
Chr3:43760178 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.489G>A (p.Ser163=) single nucleotide variant not provided [RCV000975390] Chr3:43702570 [GRCh38]
Chr3:43744062 [GRCh37]
Chr3:3p21.33		 likely benign
NM_016006.6(ABHD5):c.444C>T (p.Ile148=) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001145294] Chr3:43702525 [GRCh38]
Chr3:43744017 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*1485A>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001145378] Chr3:43720017 [GRCh38]
Chr3:43761509 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*1596A>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001145380] Chr3:43720128 [GRCh38]
Chr3:43761620 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*1076G>A single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001149692] Chr3:43719608 [GRCh38]
Chr3:43761100 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*227T>C single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001147241] Chr3:43718759 [GRCh38]
Chr3:43760251 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.11A>C (p.Glu4Ala) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001148032] Chr3:43691003 [GRCh38]
Chr3:43732495 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*848C>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001148139] Chr3:43719380 [GRCh38]
Chr3:43760872 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*2048T>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001148245] Chr3:43720580 [GRCh38]
Chr3:43762072 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*2109T>C single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001148247] Chr3:43720641 [GRCh38]
Chr3:43762133 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*2128T>C single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001148248] Chr3:43720660 [GRCh38]
Chr3:43762152 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*1537C>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001145379] Chr3:43720069 [GRCh38]
Chr3:43761561 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.202T>C (p.Phe68Leu) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001149582]|not provided [RCV000889550] Chr3:43702283 [GRCh38]
Chr3:43743775 [GRCh37]
Chr3:3p21.33		 benign
NM_016006.6(ABHD5):c.730dup (p.Thr244fs) duplication Triglyceride storage disease with ichthyosis [RCV001250145]|not provided [RCV001093064] Chr3:43715014..43715015 [GRCh38]
Chr3:43756506..43756507 [GRCh37]
Chr3:3p21.33		 pathogenic|likely pathogenic
NM_016006.6(ABHD5):c.201G>C (p.Lys67Asn) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001149581] Chr3:43702282 [GRCh38]
Chr3:43743774 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.418T>G (p.Cys140Gly) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001149585] Chr3:43702499 [GRCh38]
Chr3:43743991 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.961-15C>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001145295] Chr3:43718428 [GRCh38]
Chr3:43759920 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.984T>C (p.Tyr328=) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001145296] Chr3:43718466 [GRCh38]
Chr3:43759958 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*3171G>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001145471] Chr3:43721703 [GRCh38]
Chr3:43763195 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*2492C>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001149807] Chr3:43721024 [GRCh38]
Chr3:43762516 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.550C>T (p.Arg184Ter) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001250089] Chr3:43711752 [GRCh38]
Chr3:43753244 [GRCh37]
Chr3:3p21.33		 pathogenic
NM_016006.6(ABHD5):c.*2540A>G single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001145470] Chr3:43721072 [GRCh38]
Chr3:43762564 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.-48C>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001147143] Chr3:43690945 [GRCh38]
Chr3:43732437 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.43G>A (p.Glu15Lys) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001148033] Chr3:43691035 [GRCh38]
Chr3:43732527 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*57T>C single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001147238] Chr3:43718589 [GRCh38]
Chr3:43760081 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.*3885G>T single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001148346] Chr3:43722417 [GRCh38]
Chr3:43763909 [GRCh37]
Chr3:3p21.33		 uncertain significance
NM_016006.6(ABHD5):c.810T>A (p.Tyr270Ter) single nucleotide variant Triglyceride storage disease with ichthyosis [RCV001255228] Chr3:43717707 [GRCh38]
Chr3:43759199 [GRCh37]
Chr3:3p21.33		 pathogenic
GRCh37/hg19 3p22.1-21.33(chr3:43230722-43933855)x1 copy number loss not provided [RCV001259689] Chr3:43230722..43933855 [GRCh37]
Chr3:3p22.1-21.33		 uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21396 AgrOrtholog
COSMIC ABHD5 COSMIC
Ensembl Genes ENSG00000011198 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000013894 UniProtKB/TrEMBL
  ENSP00000390849 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000391582 UniProtKB/TrEMBL
  ENSP00000392159 UniProtKB/TrEMBL
  ENSP00000412014 UniProtKB/TrEMBL
  ENSP00000494478 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000494735 UniProtKB/TrEMBL
  ENSP00000494829 UniProtKB/TrEMBL
  ENSP00000495570 UniProtKB/TrEMBL
  ENSP00000495588 UniProtKB/TrEMBL
  ENSP00000495778 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000495826 UniProtKB/TrEMBL
  ENSP00000496220 UniProtKB/TrEMBL
  ENSP00000497701 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000013894 UniProtKB/TrEMBL
  ENST00000413300 UniProtKB/TrEMBL
  ENST00000454293 UniProtKB/TrEMBL
  ENST00000456453 UniProtKB/TrEMBL
  ENST00000458276 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000463153 UniProtKB/TrEMBL
  ENST00000642351 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000643140 UniProtKB/TrEMBL
  ENST00000643477 UniProtKB/TrEMBL
  ENST00000643500 UniProtKB/TrEMBL
  ENST00000644371 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000646378 UniProtKB/TrEMBL
  ENST00000646799 UniProtKB/TrEMBL
  ENST00000649763 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.1820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000011198 GTEx
HGNC ID HGNC:21396 ENTREZGENE
Human Proteome Map ABHD5 Human Proteome Map
InterPro AB_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AB_hydrolase_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S33 UniProtKB/TrEMBL
KEGG Report hsa:51099 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 51099 ENTREZGENE
OMIM 275630 OMIM
  604780 OMIM
Pfam Abhydrolase_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134891622 PharmGKB
PRINTS ABHYDROLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROAMNOPTASE UniProtKB/TrEMBL
Superfamily-SCOP SSF53474 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0M3LN66_HUMAN UniProtKB/TrEMBL
  A0A0S2Z572_HUMAN UniProtKB/TrEMBL
  A0A0S2Z5D6 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8Y7S6_HUMAN UniProtKB/TrEMBL
  A0A2R8YER6_HUMAN UniProtKB/TrEMBL
  A0A2R8YEZ7_HUMAN UniProtKB/TrEMBL
  A0A2R8YG22_HUMAN UniProtKB/TrEMBL
  A0A2R8YG27_HUMAN UniProtKB/TrEMBL
  A0A2U3TZT9_HUMAN UniProtKB/TrEMBL
  A0A6B9MC78_HUMAN UniProtKB/TrEMBL
  ABHD5_HUMAN UniProtKB/Swiss-Prot
  C9J1D1_HUMAN UniProtKB/TrEMBL
  C9JBM3_HUMAN UniProtKB/TrEMBL
  F6K7K2_HUMAN UniProtKB/TrEMBL
  F6K7K3_HUMAN UniProtKB/TrEMBL
  F6K7K4_HUMAN UniProtKB/TrEMBL
  F6K7K5_HUMAN UniProtKB/TrEMBL
  F8W7B5_HUMAN UniProtKB/TrEMBL
  H7BZY9_HUMAN UniProtKB/TrEMBL
  Q8WTS1 ENTREZGENE
UniProt Secondary B2R9K0 UniProtKB/Swiss-Prot
  Q9Y369 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-01-28 ABHD5  abhydrolase domain containing 5, lysophosphatidic acid acyltransferase  ABHD5  abhydrolase domain containing 5  Symbol and/or name change 5135510 APPROVED