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    PEA15 proliferation and apoptosis adaptor protein 15 [ Homo sapiens (human) ]

    Gene ID: 8682, updated on 3-Dec-2024

    Summary

    Official Symbol
    PEA15provided by HGNC
    Official Full Name
    proliferation and apoptosis adaptor protein 15provided by HGNC
    Primary source
    HGNC:HGNC:8822
    See related
    Ensembl:ENSG00000162734 MIM:603434; AllianceGenome:HGNC:8822
    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
    PED; MAT1; HMAT1; MAT1H; PEA-15; HUMMAT1H; PED-PEA15; PED/PEA15
    Summary
    This gene encodes a death effector domain-containing protein that functions as a negative regulator of apoptosis. The encoded protein is an endogenous substrate for protein kinase C. This protein is also overexpressed in type 2 diabetes mellitus, where it may contribute to insulin resistance in glucose uptake. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
    Expression
    Broad expression in brain (RPKM 413.0), fat (RPKM 91.8) and 18 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PEA15 in Genome Data Viewer
    Location:
    1q23.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (160205384..160215372)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (159342460..159352445)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160175174..160185162)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATPase Na+/K+ transporting subunit alpha 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160135860-160136392 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160138857-160139851 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160143677-160144876 Neighboring gene calsequestrin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1915 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1459 Neighboring gene uncharacterized LOC729867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160179879-160180545 Neighboring gene DDB1 and CUL4 associated factor 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1460 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160231274-160232222 Neighboring gene DCAF8 divergent transcript Neighboring gene ribosomal protein SA pseudogene 18

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    General protein information

    Preferred Names
    astrocytic phosphoprotein PEA-15
    Names
    15 kDa phosphoprotein enriched in astrocytes
    homolog of mouse MAT-1 oncogene
    mammary transforming gene 1, mouse, homolog of
    phosphoprotein enriched in astrocytes 15
    phosphoprotein enriched in diabetes
    proliferation and apoptosis adaptor 15

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001297576.2NP_001284505.1  astrocytic phosphoprotein PEA-15 isoform a

      See identical proteins and their annotated locations for NP_001284505.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AK095879, AL121987, BC010469, BC022554, DA131259
      Consensus CDS
      CCDS72954.1
      UniProtKB/TrEMBL
      Q6FHL9
      Related
      ENSP00000357055.1, ENST00000368076.1
      Conserved Domains (1) summary
      cd08338
      Location:23106
      DED_PEA15; Death Effector Domain of Astrocyte phosphoprotein PEA-15
    2. NM_001297577.2NP_001284506.1  astrocytic phosphoprotein PEA-15 isoform b

      See identical proteins and their annotated locations for NP_001284506.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus than isoform a. Variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      BC010469, BC022554, DA131259, DA707281
      Consensus CDS
      CCDS1199.1
      UniProtKB/Swiss-Prot
      B1AKZ3, O00511, Q15121
      UniProtKB/TrEMBL
      B1AKZ4, D3DVE5, Q6FHL9
      Conserved Domains (1) summary
      cd08338
      Location:285
      DED_PEA15; Death Effector Domain of Astrocyte phosphoprotein PEA-15
    3. NM_001297578.2NP_001284507.1  astrocytic phosphoprotein PEA-15 isoform c

      See identical proteins and their annotated locations for NP_001284507.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate exons and uses an alternate in-frame splice site in the 5' region, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AL121987, BC010469, BC022554, DA157938
      Consensus CDS
      CCDS76227.1
      UniProtKB/TrEMBL
      B1AKZ5, Q6FHL9
      Related
      ENSP00000357056.1, ENST00000368077.5
      Conserved Domains (1) summary
      cl14633
      Location:263
      DD; Death Domain Superfamily of protein-protein interaction domains
    4. NM_003768.5NP_003759.1  astrocytic phosphoprotein PEA-15 isoform b

      See identical proteins and their annotated locations for NP_003759.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate exons in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus than isoform a. Variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      BC002426, BC010469, BC022554, DA131259
      Consensus CDS
      CCDS1199.1
      UniProtKB/Swiss-Prot
      B1AKZ3, O00511, Q15121
      UniProtKB/TrEMBL
      B1AKZ4, D3DVE5, Q6FHL9
      Related
      ENSP00000353660.5, ENST00000360472.9
      Conserved Domains (1) summary
      cd08338
      Location:285
      DED_PEA15; Death Effector Domain of Astrocyte phosphoprotein PEA-15

    RNA

    1. NR_123724.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks three internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
      Source sequence(s)
      BC010469, BC022554, DA131259, DA538845

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      160205384..160215372
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047433391.1XP_047289347.1  astrocytic phosphoprotein PEA-15 isoform X1

      UniProtKB/TrEMBL
      Q6FHL9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      159342460..159352445
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339396.1XP_054195371.1  astrocytic phosphoprotein PEA-15 isoform X1

      UniProtKB/TrEMBL
      Q6FHL9