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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)

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

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