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ABHD1 abhydrolase domain containing 1 [ Homo sapiens (human) ]

Gene ID: 84696, updated on 5-Mar-2024

Summary

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Official Symbol
ABHD1provided by HGNC
Official Full Name
abhydrolase domain containing 1provided by HGNC
Primary source
HGNC:HGNC:17553
See related
Ensembl:ENSG00000143994 MIM:612195; AllianceGenome:HGNC:17553
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LABH1
Summary
This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq, Jul 2008]
Expression
Biased expression in testis (RPKM 24.6) and fat (RPKM 1.9) See more
Orthologs
all
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Genomic context

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Location:
2p23.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27123815..27130812)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27165161..27172457)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27346683..27353680)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27315477-27316062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27316063-27316648 Neighboring gene ketohexokinase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27321908-27322751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27324357-27324857 Neighboring gene uncharacterized LOC124907744 Neighboring gene cell growth regulator with EF-hand domain 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27340928-27341428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27341429-27341929 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11286 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:27357261-27357917 Neighboring gene prolactin regulatory element binding Neighboring gene proline rich 30 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15492 Neighboring gene transcription factor 23

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children. Lan C, et al. J Cell Mol Med, 2021 Oct. PMID 34545688, Free PMC Article
  2. The gene structure and expression of human ABHD1: overlapping polyadenylation signal sequence with Sec12. Edgar AJ. BMC Genomics, 2003 May 7. PMID 12735795, Free PMC Article
  3. Cloning and tissue distribution of three murine alpha/beta hydrolase fold protein cDNAs. Edgar AJ, et al. Biochem Biophys Res Commun, 2002 Apr 5. PMID 11922611
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
  5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children.
    Title: Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children.
  2. The mouse ortholog of ABHD1 is sequenced and tissue-specific mRNA expression is described.
    Title: Cloning and tissue distribution of three murine alpha/beta hydrolase fold protein cDNAs.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ36128

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acetylesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables acylglycerol lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in medium-chain fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in medium-chain fatty acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in membrane NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
protein ABHD1
Names
abhydrolase domain-containing protein 1
alpha/beta hydrolase domain-containing protein 1
lung alpha/beta hydrolase 1
testicular tissue protein Li 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_032604.4 → NP_115993.3  protein ABHD1

    See identical proteins and their annotated locations for NP_115993.3

    Status: REVIEWED

    Source sequence(s)
    BC039576, DB455979
    Consensus CDS
    CCDS1736.1
    UniProtKB/Swiss-Prot
    B3KSF6, E9PDR9, Q05BY3, Q53SZ1, Q8IXQ7, Q96SE0
    UniProtKB/TrEMBL
    A0A140VJD1
    Related
    ENSP00000326491.4, ENST00000316470.9
    Conserved Domains (2) summary
    pfam00561
    Location:123 → 364
    Abhydrolase_1; alpha/beta hydrolase fold
    cl21494
    Location:46 → 377
    Abhydrolase; alpha/beta hydrolases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    27123815..27130812
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533136.4 → XP_011531438.1  protein ABHD1 isoform X2

    See identical proteins and their annotated locations for XP_011531438.1

    UniProtKB/Swiss-Prot
    Q96SE0
    Related
    ENSP00000481238.1, ENST00000621324.4
    Conserved Domains (1) summary
    cl21494
    Location:46 → 289
    Abhydrolase; alpha/beta hydrolases

  2. XM_011533135.4 → XP_011531437.1  protein ABHD1 isoform X1

    Conserved Domains (1) summary
    cl21494
    Location:46 → 286
    Abhydrolase; alpha/beta hydrolases

  3. XM_011533138.4 → XP_011531440.1  protein ABHD1 isoform X4

    Conserved Domains (1) summary
    cl21494
    Location:31 → 223
    Abhydrolase; alpha/beta hydrolases

  4. XM_011533137.4 → XP_011531439.1  protein ABHD1 isoform X3

    Conserved Domains (1) summary
    cl21494
    Location:46 → 271
    Abhydrolase; alpha/beta hydrolases

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    27165161..27172457
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344224.1 → XP_054200199.1  protein ABHD1 isoform X2

  2. XM_054344223.1 → XP_054200198.1  protein ABHD1 isoform X1

  3. XM_054344225.1 → XP_054200200.1  protein ABHD1 isoform X3

  4. XM_054344226.1 → XP_054200201.1  protein ABHD1 isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_152870.1: Suppressed sequence

    Description
    NM_152870.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96SE0.3 GenPept UniProtKB/Swiss-Prot:Q96SE0

Gene LinkOut

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