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    ABHD4 abhydrolase domain containing 4, N-acyl phospholipase B [ Homo sapiens (human) ]

    Gene ID: 63874, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ABHD4provided by HGNC
    Official Full Name
    abhydrolase domain containing 4, N-acyl phospholipase Bprovided by HGNC
    Primary source
    HGNC:HGNC:20154
    See related
    Ensembl:ENSG00000100439 MIM:619728; AllianceGenome:HGNC:20154
    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
    Summary
    Predicted to enable lysophosphatidic acid acyltransferase activity and lysophospholipase activity. Predicted to be involved in N-acylphosphatidylethanolamine metabolic process; lipid homeostasis; and phosphatidic acid biosynthetic process. Predicted to act upstream of or within N-acylethanolamine metabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in lipid droplet and mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 27.9), gall bladder (RPKM 15.6) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See ABHD4 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (22598300..22612963)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (16796030..16810693)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23067209..23081869)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8133 Neighboring gene uncharacterized LOC105370399 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8134 Neighboring gene long intergenic non-protein coding RNA 2332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8135 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:23039191-23039913 Neighboring gene defender against cell death 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:23049159-23049321 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23051199-23051700 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:23057127-23057768 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:23057769-23058410 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8136 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:23105272-23105983 Neighboring gene olfactory receptor family 6 subfamily J member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8137 Neighboring gene ribosomal protein L26 pseudogene 2

    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 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. A genome wide shRNA screen identifies α/β hydrolase domain containing 4 (ABHD4) as a novel regulator of anoikis resistance. Simpson CD, et al. Apoptosis, 2012 Jul. PMID 22488300
    2. ABHD4 regulates multiple classes of N-acyl phospholipids in the mammalian central nervous system. Lee HC, et al. Biochemistry, 2015 Apr 21. PMID 25853435, Free PMC Article
    3. ABHD4-dependent developmental anoikis safeguards the embryonic brain. László ZI, et al. Nat Commun, 2020 Aug 31. PMID 32868797, Free PMC Article
    4. Endocannabinoid biosynthesis proceeding through glycerophospho-N-acyl ethanolamine and a role for alpha/beta-hydrolase 4 in this pathway. Simon GM, et al. J Biol Chem, 2006 Sep 8. PMID 16818490
    5. New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing. Basei FL, et al. Proteome Sci, 2015. PMID 25798074, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ABHD4-dependent developmental anoikis safeguards the embryonic brain.
      Title: ABHD4-dependent developmental anoikis safeguards the embryonic brain.
    2. ABHD4 is a novel genetic regulator of anoikis sensitivity.
      Title: A genome wide shRNA screen identifies α/β hydrolase domain containing 4 (ABHD4) as a novel regulator of anoikis resistance.
    3. Lysophospholipase/phospholipase B (EC 3.1.1.5) specific for N-acyl phosphatidylethanolamine (NAPE) suggesting a role in the biosynthesis of N-acyl ethanolamines including the endocannabinoid anandamide.
      Title: Endocannabinoid biosynthesis proceeding through glycerophospho-N-acyl ethanolamine and a role for alpha/beta-hydrolase 4 in this pathway.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12816

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydrolase activity TAS
    Traceable Author Statement
    more info
    		  
    enables lysophosphatidic acid acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables lysophospholipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in N-acylphosphatidylethanolamine metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidic acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidylethanolamine acyl-chain remodeling TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in lipid droplet IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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

    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_001392009.1 → NP_001378938.1  (Lyso)-N-acylphosphatidylethanolamine lipase isoform b

      Status: VALIDATED

      Source sequence(s)
      AC243965
      Conserved Domains (1) summary
      PLN02894
      Location:32 → 314
      PLN02894; hydrolase, alpha/beta fold family protein

    2. NM_022060.3 → NP_071343.2  (Lyso)-N-acylphosphatidylethanolamine lipase isoform a

      See identical proteins and their annotated locations for NP_071343.2

      Status: VALIDATED

      Source sequence(s)
      AC243965
      Consensus CDS
      CCDS9572.1
      UniProtKB/Swiss-Prot
      B4DDH7, Q8TB40, Q9H9E0
      Related
      ENSP00000414558.2, ENST00000428304.7
      Conserved Domains (1) summary
      PLN02894
      Location:8 → 338
      PLN02894; hydrolase, alpha/beta fold family protein

    RNA

    1. NR_171624.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC243965

    2. NR_171625.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC243965

    3. NR_171626.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC243965

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      22598300..22612963
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      16796030..16810693
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TB40.1 GenPept UniProtKB/Swiss-Prot:Q8TB40

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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