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

Gene ID: 157310, updated on 17-Jun-2019

Summary

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
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

Genomic context

See PEBP4 in Genome Data Viewer
Location:
8p21.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (22713251..22941077, 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 VISTA enhancer hs1927 Neighboring gene RNA, 7SL, cytoplasmic 303, pseudogene

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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 

General protein information

Preferred Names
phosphatidylethanolamine-binding protein 4
Names
cousin-of-RKIP 1 protein
epididymis secretory protein Li 300
epididymis secretory sperm binding protein
protein cousin-of-RKIP 1

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_001363233.1NP_001350162.1  phosphatidylethanolamine-binding protein 4 precursor

    Status: VALIDATED

    Source sequence(s)
    AC134389, AY359109, AY730275
    Consensus CDS
    CCDS43724.1
    Conserved Domains (1) summary
    cd00866
    Location:46197
    PEBP_euk; PhosphatidylEthanolamine-Binding Protein (PEBP) domain present in eukaryotes
  2. NM_144962.3NP_659399.2  phosphatidylethanolamine-binding protein 4 precursor

    See identical proteins and their annotated locations for NP_659399.2

    Status: VALIDATED

    Source sequence(s)
    AC037441, AC105046, AY037148, AY359109, BF853000
    Consensus CDS
    CCDS43724.1
    UniProtKB/Swiss-Prot
    Q96S96
    Related
    ENSP00000256404.6, ENST00000256404.8
    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

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    22713251..22941077 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013103.1XP_016868592.1  phosphatidylethanolamine-binding protein 4 isoform X2

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