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    ABHD4 abhydrolase domain containing 4 [ Homo sapiens (human) ]

    Gene ID: 63874, updated on 12-Aug-2018

    Summary

    Official Symbol
    ABHD4provided by HGNC
    Official Full Name
    abhydrolase domain containing 4provided by HGNC
    Primary source
    HGNC:HGNC:20154
    See related
    Ensembl:ENSG00000100439 Vega:OTTHUMG00000028686
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ABH4
    Expression
    Ubiquitous expression in testis (RPKM 27.9), gall bladder (RPKM 15.6) and 25 other tissues See more
    Orthologs

    Genomic context

    See ABHD4 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (22598238..22612864)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23067147..23081265)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370399 Neighboring gene long intergenic non-protein coding RNA 2332 Neighboring gene defender against cell death 1 Neighboring gene olfactory receptor family 6 subfamily J member 1 (gene/pseudogene) Neighboring gene uncharacterized LOC107984651

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Acyl chain remodelling of PE, organism-specific biosystem (from REACTOME)
      Acyl chain remodelling of PE, organism-specific biosystemIn the acyl chain remodelling pathway (Lands cycle), phosphatidylethanolamine (PE) is hydrolyzed by phopholipases and subsequently reacylated by acyltransferases. These cycles modify the fatty acid ...
    • Glycerophospholipid biosynthesis, organism-specific biosystem (from REACTOME)
      Glycerophospholipid biosynthesis, organism-specific biosystemGlycerophospholipids are important structural and functional components of biological membranes and constituents of serum lipoproteins and the pulmonary surfactant. In addition, glycerophospholipids...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
      Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ12816

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    carboxylic ester hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    hydrolase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    lipid homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphatidylethanolamine acyl-chain remodeling TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    lipid droplet IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    protein ABHD4
    Names
    abhydrolase domain-containing protein 4
    alpha/beta hydrolase domain-containing protein 4
    alpha/beta-hydrolase 4
    lyso-N-acylphosphatidylethanolamine lipase

    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_022060.2NP_071343.2  protein ABHD4

      See identical proteins and their annotated locations for NP_071343.2

      Status: VALIDATED

      Source sequence(s)
      AK022878, AK024790, BC024779
      Consensus CDS
      CCDS9572.1
      UniProtKB/Swiss-Prot
      Q8TB40
      Related
      ENSP00000414558.2, OTTHUMP00000164495, ENST00000428304.6, OTTHUMT00000071623
      Conserved Domains (1) summary
      cl26327
      Location:8338
      Abhydrolase_1; alpha/beta hydrolase fold

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

      Range
      22598238..22612864
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005267986.4XP_005268043.1  protein ABHD4 isoform X1

      See identical proteins and their annotated locations for XP_005268043.1

      Conserved Domains (2) summary
      COG0596
      Location:43317
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
      pfam12695
      Location:46163
      Abhydrolase_5; Alpha/beta hydrolase family

    RNA

    1. XR_001750499.1 RNA Sequence

    2. XR_245712.4 RNA Sequence

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