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    CD151 CD151 molecule (Raph blood group) [ Homo sapiens (human) ]

    Gene ID: 977, updated on 27-Mar-2020

    Summary

    Official Symbol
    CD151provided by HGNC
    Official Full Name
    CD151 molecule (Raph blood group)provided by HGNC
    Primary source
    HGNC:HGNC:1630
    See related
    Ensembl:ENSG00000177697 MIM:602243
    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
    GP27; MER2; RAPH; SFA1; PETA-3; TSPAN24
    Summary
    The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It is involved in cellular processes including cell adhesion and may regulate integrin trafficking and/or function. This protein enhances cell motility, invasion and metastasis of cancer cells. Multiple alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in fat (RPKM 188.8), lung (RPKM 142.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See CD151 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (832952..838835)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (832952..838840)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein lateral stalk subunit P2 Neighboring gene small nucleolar RNA, H/ACA box 52 Neighboring gene patatin like phospholipase domain containing 2 Neighboring gene calcium release activated channel regulator 2B Neighboring gene RNA polymerase II subunit L Neighboring gene tetraspanin 4

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Nephropathy with pretibial epidermolysis bullosa and deafness
    MedGen: C1836823 OMIM: 609057 GeneReviews: Not available
    Compare labs
    RAPH BLOOD GROUP SYSTEM
    MedGen: C1867341 OMIM: 179620 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Downregulation of guanine nucleotide-releasing protein, CD151/PETA-3, neuronatin, neuroendocrine differentiation factor, mitochondria 16s rRNA, and signal recognition particle is observed in HIV-1 infected and HIV-1 gp120-treated astrocytes PubMed
    Nef nef HIV-1 Nef downregulates the cell surface expression of CD151 (TSPAN24) PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    integrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    cell adhesion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    hemidesmosome assembly TAS
    Traceable Author Statement
    more info
     
    positive regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of endocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    wound healing, spreading of cells IDA
    Inferred from Direct Assay
    more info
    PubMed 
    wound healing, spreading of cells IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    basement membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    focal adhesion HDA PubMed 
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    CD151 antigen
    Names
    CD151 antigen (Raph blood group)
    hemidesmosomal tetraspanin CD151
    membrane glycoprotein SFA-1
    platelet surface glycoprotein gp27
    platelet-endothelial cell tetraspan antigen 3
    platelet-endothelial tetraspan antigen 3
    tetraspanin-24
    tspan-24

    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.

    Genomic

    1. NG_007478.1 RefSeqGene

      Range
      5001..10880
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001039490.1NP_001034579.1  CD151 antigen

      See identical proteins and their annotated locations for NP_001034579.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate segment of sequence in the 5' UTR, compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AK130369, AU099249, BC001374, BQ957432
      Consensus CDS
      CCDS7719.1
      UniProtKB/Swiss-Prot
      P48509
      UniProtKB/TrEMBL
      A0A024RCB3, Q6ZNZ0
      Conserved Domains (1) summary
      cd03155
      Location:112220
      CD151_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD151_Like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model ...
    2. NM_004357.5NP_004348.2  CD151 antigen

      See identical proteins and their annotated locations for NP_004348.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longest transcript. All variants encode the same protein.
      Source sequence(s)
      AK130369, AU099249, BC001374
      Consensus CDS
      CCDS7719.1
      UniProtKB/Swiss-Prot
      P48509
      UniProtKB/TrEMBL
      A0A024RCB3, Q6ZNZ0
      Related
      ENSP00000380565.3, ENST00000397420.9
      Conserved Domains (1) summary
      cd03155
      Location:112220
      CD151_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD151_Like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model ...
    3. NM_139029.1NP_620598.1  CD151 antigen

      See identical proteins and their annotated locations for NP_620598.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR, compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AK130369, AU099249, BC001374, BC013302
      Consensus CDS
      CCDS7719.1
      UniProtKB/Swiss-Prot
      P48509
      UniProtKB/TrEMBL
      A0A024RCB3, Q6ZNZ0
      Related
      ENSP00000324101.4, ENST00000322008.9
      Conserved Domains (1) summary
      cd03155
      Location:112220
      CD151_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD151_Like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model ...
    4. NM_139030.3NP_620599.1  CD151 antigen

      See identical proteins and their annotated locations for NP_620599.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate segment in the 5' UTR, compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AK130369, AU099249, BC001374
      Consensus CDS
      CCDS7719.1
      UniProtKB/Swiss-Prot
      P48509
      UniProtKB/TrEMBL
      A0A024RCB3, Q6ZNZ0
      Related
      ENSP00000380566.1, ENST00000397421.5
      Conserved Domains (1) summary
      cd03155
      Location:112220
      CD151_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD151_Like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      832952..838835
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448780.1XP_024304548.1  CD151 antigen isoform X1

      Conserved Domains (1) summary
      cd03155
      Location:112220
      CD151_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD151_Like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model ...
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