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

Gene ID: 84696, updated on 4-Jun-2020

Summary

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
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

Genomic context

See ABHD1 in Genome Data Viewer
Location:
2p23.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (27123780..27131114)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27346632..27353680)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene elastin microfibril interfacer 1 Neighboring gene ketohexokinase Neighboring gene cell growth regulator with EF-hand domain 1 Neighboring gene prolactin regulatory element binding Neighboring gene proline rich 30 Neighboring gene transcription factor 23

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ36128

Gene Ontology Provided by GOA

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

General protein information

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)

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_032604.4NP_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
    Q96SE0
    UniProtKB/TrEMBL
    A0A140VJD1
    Related
    ENSP00000326491.4, ENST00000316470.9
    Conserved Domains (2) summary
    pfam00561
    Location:123364
    Abhydrolase_1; alpha/beta hydrolase fold
    cl21494
    Location:46377
    Abhydrolase; alpha/beta hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    27123780..27131114
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453180.1XP_024308948.1  protein ABHD1 isoform X6

    Conserved Domains (1) summary
    cl21494
    Location:34152
    Abhydrolase; alpha/beta hydrolases
  2. XM_011533138.3XP_011531440.1  protein ABHD1 isoform X4

    Conserved Domains (1) summary
    cl21494
    Location:31223
    Abhydrolase; alpha/beta hydrolases
  3. XM_024453179.1XP_024308947.1  protein ABHD1 isoform X5

    Conserved Domains (1) summary
    cl21494
    Location:31226
    Abhydrolase; alpha/beta hydrolases
  4. XM_011533137.3XP_011531439.1  protein ABHD1 isoform X3

    Conserved Domains (1) summary
    cl21494
    Location:46271
    Abhydrolase; alpha/beta hydrolases
  5. XM_011533135.3XP_011531437.1  protein ABHD1 isoform X1

    Conserved Domains (1) summary
    cl21494
    Location:46286
    Abhydrolase; alpha/beta hydrolases
  6. XM_011533136.3XP_011531438.1  protein ABHD1 isoform X2

    See identical proteins and their annotated locations for XP_011531438.1

    UniProtKB/Swiss-Prot
    Q96SE0
    Related
    ENSP00000410756.1, ENST00000448950.5
    Conserved Domains (1) summary
    cl21494
    Location:46289
    Abhydrolase; alpha/beta hydrolases
  7. XM_017005113.1XP_016860602.1  protein ABHD1 isoform X7

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.
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