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    PEBP4 phosphatidylethanolamine binding protein 4 [ Homo sapiens (human) ]

    Gene ID: 157310, updated on 8-Apr-2018
    Official Symbol
    PEBP4provided by HGNC
    Official Full Name
    phosphatidylethanolamine binding protein 4provided by HGNC
    Primary source
    HGNC:HGNC:28319
    See related
    Ensembl:ENSG00000134020 MIM:612473; Vega:OTTHUMG00000163749
    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
    CORK1; CORK-1; PEBP-4; hPEBP4; PRO4408; GWTM1933; HEL-S-300
    Summary
    The phosphatidylethanolamine (PE)-binding proteins, including PEBP4, are an evolutionarily conserved family of proteins with pivotal biologic functions, such as lipid binding and inhibition of serine proteases (Wang et al., 2004 [PubMed 15302887]).[supplied by OMIM, Dec 2008]
    Expression
    Biased expression in lung (RPKM 23.8), heart (RPKM 14.9) and 5 other tissues See more
    Orthologs
    Location:
    8p21.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (22713251..22941095, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (22570765..22785491, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379321 Neighboring gene uncharacterized LOC107986926 Neighboring gene uncharacterized LOC107986925 Neighboring gene uncharacterized LOC105379325 Neighboring gene uncharacterized LOC101929237 Neighboring gene translation initiation factor IF-2-like Neighboring gene RNA, 7SL, cytoplasmic 303, pseudogene Neighboring gene Rho related BTB domain containing 2 Neighboring gene TNF receptor superfamily member 10b

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association meta-analysis of preschool internalizing problems.
    NHGRI GWA Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    NHGRI GWA Catalog
    Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC22776

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular exosome HDA PubMed 
    lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    phosphatidylethanolamine-binding protein 4
    Names
    cousin-of-RKIP 1 protein
    epididymis secretory protein Li 300
    protein cousin-of-RKIP 1

    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_144962.2NP_659399.2  phosphatidylethanolamine-binding protein 4 precursor

      See identical proteins and their annotated locations for NP_659399.2

      Status: VALIDATED

      Source sequence(s)
      AY037148, AY359109, BF853000
      Consensus CDS
      CCDS43724.1
      UniProtKB/Swiss-Prot
      Q96S96
      Related
      ENSP00000256404.6, OTTHUMP00000224721, ENST00000256404.7, OTTHUMT00000375141
      Conserved Domains (1) summary
      cd00866
      Location:46197
      PEBP_euk; PhosphatidylEthanolamine-Binding Protein (PEBP) domain present in eukaryotes

    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_000008.11 Reference GRCh38.p12 Primary Assembly

      Range
      22713251..22941095 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544414.2XP_011542716.1  phosphatidylethanolamine-binding protein 4 isoform X1

      See identical proteins and their annotated locations for XP_011542716.1

      UniProtKB/Swiss-Prot
      Q96S96
      Conserved Domains (1) summary
      cd00866
      Location:46197
      PEBP_euk; PhosphatidylEthanolamine-Binding Protein (PEBP) domain present in eukaryotes
    2. XM_017013103.1XP_016868592.1  phosphatidylethanolamine-binding protein 4 isoform X2

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