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    PEBP1 phosphatidylethanolamine binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 5037, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PEBP1provided by HGNC
    Official Full Name
    phosphatidylethanolamine binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:8630
    See related
    Ensembl:ENSG00000089220 MIM:604591; AllianceGenome:HGNC:8630
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PBP; HCNP; PEBP; RKIP; HCNPpp; PEBP-1; HEL-210; HEL-S-34; HEL-S-96
    Summary
    This gene encodes a member of the phosphatidylethanolamine-binding family of proteins and has been shown to modulate multiple signaling pathways, including the MAP kinase (MAPK), NF-kappa B, and glycogen synthase kinase-3 (GSK-3) signaling pathways. The encoded protein can be further processed to form a smaller cleavage product, hippocampal cholinergic neurostimulating peptide (HCNP), which may be involved in neural development. This gene has been implicated in numerous human cancers and may act as a metastasis suppressor gene. Multiple pseudogenes of this gene have been identified in the genome. [provided by RefSeq, Jul 2015]
    Expression
    Broad expression in adrenal (RPKM 735.7), liver (RPKM 426.0) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PEBP1 in Genome Data Viewer
    Location:
    12q24.23
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (118136124..118145584)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (118123375..118132824)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (118573929..118583389)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene V-set and immunoglobulin domain containing 10 Neighboring gene uncharacterized LOC124903029 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4922 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:118543551-118544266 Neighboring gene Sharpr-MPRA regulatory region 1292 Neighboring gene uncharacterized LOC101928274 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancers GRCh37_chr12:118557876-118558588 and GRCh37_chr12:118558589-118559300 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:118560014-118560725 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:118560726-118561438 Neighboring gene Sharpr-MPRA regulatory region 10186 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:118564319-118564855 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:118573724-118574224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4923 Neighboring gene MPRA-validated peak1994 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7107 Neighboring gene TAO kinase 3 Neighboring gene Sharpr-MPRA regulatory region 13893 Neighboring gene NANOG hESC enhancer GRCh37_chr12:118666512-118667013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7109 Neighboring gene ribosomal protein S2 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7110 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:118778991-118779218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7111 Neighboring gene uncharacterized LOC124903031

    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
    • 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. Genetic and epigenetic control of RKIP transcription. Datar I, et al. Crit Rev Oncog, 2014. PMID 25597352
    2. Repeated sub-optimal photodynamic treatments with pheophorbide a induce an epithelial mesenchymal transition in prostate cancer cells via nitric oxide. Della Pietra E, et al. Nitric Oxide, 2015 Feb 15. PMID 25700664
    3. Loss of Raf-1 kinase inhibitory protein in pancreatic ductal adenocarcinoma. Kim HS, et al. Pathology, 2010 Dec. PMID 21080875
    4. Raf kinase inhibitory protein (RKIP): functional pleiotropy in the mammalian brain. Ling HH, et al. Crit Rev Oncog, 2014. PMID 25597360, Free PMC Article
    5. Interactions of RKIP with inflammatory signaling pathways. Zhao J, et al. Crit Rev Oncog, 2014. PMID 25597359, Free PMC Article

    See all (303) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bmi-1 promotes the proliferation, migration and invasion, and inhibits cell apoptosis of human retinoblastoma cells via RKIP.
      Title: Bmi-1 promotes the proliferation, migration and invasion, and inhibits cell apoptosis of human retinoblastoma cells via RKIP.
    2. Raf kinase inhibitor protein expression in smooth muscle tumours of the uterus: a diagnostic marker for leiomyosarcoma?
      Title: Raf kinase inhibitor protein expression in smooth muscle tumours of the uterus: a diagnostic marker for leiomyosarcoma?
    3. Prognostic significance of RKIP, TGM2, and CMTM4 expression in oral squamous cell carcinoma.
      Title: Prognostic significance of RKIP, TGM2, and CMTM4 expression in oral squamous cell carcinoma.
    4. Clinical Significance of Frequently Down-Regulated Phosphatidylethanolamine-Binding Protein-1 in Gallbladder Cancer.
      Title: Clinical Significance of Frequently Down-Regulated Phosphatidylethanolamine-Binding Protein-1 in Gallbladder Cancer.
    5. Raf kinase inhibitor protein combined with phosphorylated extracellular signal-regulated kinase offers valuable prognosis in gastrointestinal stromal tumor.
      Title: Raf kinase inhibitor protein combined with phosphorylated extracellular signal-regulated kinase offers valuable prognosis in gastrointestinal stromal tumor.
    6. RKIP localizes to the nucleus through a bipartite nuclear localization signal and interaction with importin alpha to regulate mitotic progression.
      Title: RKIP localizes to the nucleus through a bipartite nuclear localization signal and interaction with importin α to regulate mitotic progression.
    7. RKIP suppresses the influenza A virusinduced airway inflammatory response via the ERK/MAPK pathway.
      Title: RKIP suppresses the influenza A virus‑induced airway inflammatory response via the ERK/MAPK pathway.
    8. Reduction of glutamatergic activity through cholinergic dysfunction in the hippocampus of hippocampal cholinergic neurostimulating peptide precursor protein knockout mice.
      Title: Reduction of glutamatergic activity through cholinergic dysfunction in the hippocampus of hippocampal cholinergic neurostimulating peptide precursor protein knockout mice.
    9. Circular RNA circPOLR2A promotes clear cell renal cell carcinoma progression by facilitating the UBE3C-induced ubiquitination of PEBP1 and, thereby, activating the ERK signaling pathway.
      Title: Circular RNA circPOLR2A promotes clear cell renal cell carcinoma progression by facilitating the UBE3C-induced ubiquitination of PEBP1 and, thereby, activating the ERK signaling pathway.
    10. Raf Kinase Inhibitory Protein regulates the cAMP-dependent protein kinase signaling pathway through a positive feedback loop.
      Title: Raf Kinase Inhibitory Protein regulates the cAMP-dependent protein kinase signaling pathway through a positive feedback loop.
    Submit: New GeneRIF Correction See all GeneRIFs (194)

    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

    EBI GWAS Catalog

    Description
    TAOK3, a novel genome-wide association study locus associated with morphine requirement and postoperative pain in a retrospective pediatric day surgery population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef The yeast two-hybrid screen and the coimmunoprecipitation analysis identify the HIV-1 Nef interacting human protein phosphatidylethanolamine binding protein 1 (PEBP1) in cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables phosphatidylethanolamine binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables serine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of MAPK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    phosphatidylethanolamine-binding protein 1
    Names
    Raf kinase inhibitory protein
    epididymis luminal protein 210
    epididymis secretory protein Li 34
    epididymis secretory protein Li 96
    hippocampal cholinergic neurostimulating peptide
    neuropolypeptide h3
    prostatic binding protein
    raf kinase inhibitor protein

    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_002567.4 → NP_002558.1  phosphatidylethanolamine-binding protein 1

      See identical proteins and their annotated locations for NP_002558.1

      Status: REVIEWED

      Source sequence(s)
      BC031102, BF978793, X75252
      Consensus CDS
      CCDS9187.1
      UniProtKB/Swiss-Prot
      B2R4S1, P30086
      UniProtKB/TrEMBL
      D9IAI1
      Related
      ENSP00000261313.2, ENST00000261313.3
      Conserved Domains (1) summary
      cd00866
      Location:23 → 171
      PEBP_euk; PhosphatidylEthanolamine-Binding Protein (PEBP) domain present in eukaryotes

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      118136124..118145584
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      118123375..118132824
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P30086.3 GenPept UniProtKB/Swiss-Prot:P30086

    Gene LinkOut

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

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