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P48509

- CD151_HUMAN

UniProt

P48509 - CD151_HUMAN

Protein

CD151 antigen

Gene

CD151

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 3 (24 Jan 2006)
      Previous versions | rss
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    Functioni

    Essential for the proper assembly of the glomerular and tubular basement membranes in kidney.1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. cell adhesion Source: ProtInc
    2. cell junction assembly Source: Reactome
    3. cell migration Source: Ensembl
    4. extracellular matrix organization Source: Reactome
    5. hemidesmosome assembly Source: Reactome
    6. T cell proliferation Source: Ensembl

    Keywords - Molecular functioni

    Blood group antigen

    Enzyme and pathway databases

    ReactomeiREACT_150180. Assembly of collagen fibrils and other multimeric structures.
    REACT_20537. Type I hemidesmosome assembly.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    CD151 antigen
    Alternative name(s):
    GP27
    Membrane glycoprotein SFA-1
    Platelet-endothelial tetraspan antigen 3
    Short name:
    PETA-3
    Tetraspanin-24
    Short name:
    Tspan-24
    CD_antigen: CD151
    Gene namesi
    Name:CD151
    Synonyms:TSPAN24
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:1630. CD151.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. integral component of plasma membrane Source: ProtInc
    3. membrane Source: ProtInc
    4. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Nephropathy with pretibial epidermolysis bullosa and deafness (NPEBD) [MIM:609057]: A disorder characterized by the association of hereditary nephritis, epidermolysis bullosa, deafness, and beta-thalassemia minor.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Deafness, Epidermolysis bullosa

    Organism-specific databases

    MIMi179620. phenotype.
    609057. phenotype.
    Orphaneti300333. Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome.
    PharmGKBiPA26189.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 253253CD151 antigenPRO_0000219230Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Lipidationi11 – 111S-palmitoyl cysteine1 Publication
    Lipidationi15 – 151S-palmitoyl cysteine1 Publication
    Glycosylationi159 – 1591N-linked (GlcNAc...)Sequence Analysis
    Lipidationi242 – 2421S-palmitoyl cysteine1 Publication
    Lipidationi243 – 2431S-palmitoyl cysteine1 Publication

    Keywords - PTMi

    Glycoprotein, Lipoprotein, Palmitate

    Proteomic databases

    MaxQBiP48509.
    PaxDbiP48509.
    PeptideAtlasiP48509.
    PRIDEiP48509.

    PTM databases

    PhosphoSiteiP48509.

    Expressioni

    Tissue specificityi

    Expressed in a variety of tissues including vascular endothelium and epidermis. Expressed on erythroid cells, with a higher level of expression in erythroid precursors than on mature erythrocytes.1 Publication

    Inductioni

    By HTLV-1.

    Gene expression databases

    ArrayExpressiP48509.
    BgeeiP48509.
    CleanExiHS_CD151.
    GenevestigatoriP48509.

    Organism-specific databases

    HPAiCAB002428.
    HPA011906.

    Interactioni

    Subunit structurei

    Interacts with integrins alpha3beta1, alpha5beta1, alpha3beta1 and alpha6beta4, with CD9 and CD181.

    Protein-protein interaction databases

    BioGridi107415. 6 interactions.
    STRINGi9606.ENSP00000324101.

    Structurei

    3D structure databases

    ProteinModelPortaliP48509.
    SMRiP48509. Positions 112-219.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1818CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini40 – 5718ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini79 – 9113CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini113 – 221109ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini243 – 25311CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei19 – 3921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei58 – 7821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei92 – 11221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei222 – 24221HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the tetraspanin (TM4SF) family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG281510.
    HOGENOMiHOG000230651.
    HOVERGENiHBG107306.
    InParanoidiP48509.
    KOiK06537.
    OMAiRVYFILL.
    OrthoDBiEOG7PGDRZ.
    PhylomeDBiP48509.
    TreeFamiTF352892.

    Family and domain databases

    InterProiIPR000301. Tetraspanin.
    IPR018499. Tetraspanin/Peripherin.
    IPR018503. Tetraspanin_CS.
    IPR008952. Tetraspanin_EC2.
    [Graphical view]
    PfamiPF00335. Tetraspannin. 1 hit.
    [Graphical view]
    PIRSFiPIRSF002419. Tetraspanin. 1 hit.
    PRINTSiPR00259. TMFOUR.
    SUPFAMiSSF48652. SSF48652. 1 hit.
    PROSITEiPS00421. TM4_1. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P48509-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGEFNEKKTT CGTVCLKYLL FTYNCCFWLA GLAVMAVGIW TLALKSDYIS    50
    LLASGTYLAT AYILVVAGTV VMVTGVLGCC ATFKERRNLL RLYFILLLII 100
    FLLEIIAGIL AYAYYQQLNT ELKENLKDTM TKRYHQPGHE AVTSAVDQLQ 150
    QEFHCCGSNN SQDWRDSEWI RSQEAGGRVV PDSCCKTVVA LCGQRDHASN 200
    IYKVEGGCIT KLETFIQEHL RVIGAVGIGI ACVQVFGMIF TCCLYRSLKL 250
    EHY 253
    Length:253
    Mass (Da):28,295
    Last modified:January 24, 2006 - v3
    Checksum:i0C8FE4CF2C3C286D
    GO

    Polymorphismi

    CD151 defines the MER2=RAPH1 antigen of the RAPH blood group system. 92% of Caucasians are MER2-positive and 8% are apparently MER2-negative.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti120 – 1201T → M.1 Publication
    Corresponds to variant rs34215390 [ dbSNP | Ensembl ].
    VAR_025098
    Natural varianti132 – 1321K → R.2 Publications
    Corresponds to variant rs55840993 [ dbSNP | Ensembl ].
    VAR_012490
    Natural varianti137 – 1371P → S.2 Publications
    Corresponds to variant rs55841393 [ dbSNP | Ensembl ].
    VAR_012491
    Natural varianti178 – 1781R → H.1 Publication
    VAR_021153

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U14650 mRNA. Translation: AAA87064.1.
    D29963 mRNA. Translation: BAA06229.1.
    AF315942 Genomic DNA. Translation: AAK14179.1.
    BT007397 mRNA. Translation: AAP36061.1.
    BT020132 mRNA. Translation: AAV38934.1.
    CR456826 mRNA. Translation: CAG33107.1.
    CR542098 mRNA. Translation: CAG46895.1.
    AK293073 mRNA. Translation: BAF85762.1.
    DQ074789 Genomic DNA. Translation: AAY68211.1.
    AP006621 Genomic DNA. No translation available.
    AP006623 Genomic DNA. No translation available.
    CH471158 Genomic DNA. Translation: EAX02400.1.
    BC001374 mRNA. Translation: AAH01374.1.
    BC013302 mRNA. Translation: AAH13302.1.
    CCDSiCCDS7719.1.
    RefSeqiNP_001034579.1. NM_001039490.1.
    NP_004348.2. NM_004357.4.
    NP_620598.1. NM_139029.1.
    NP_620599.1. NM_139030.3.
    UniGeneiHs.654379.

    Genome annotation databases

    EnsembliENST00000322008; ENSP00000324101; ENSG00000177697.
    ENST00000397420; ENSP00000380565; ENSG00000177697.
    ENST00000397421; ENSP00000380566; ENSG00000177697.
    ENST00000530726; ENSP00000432385; ENSG00000177697.
    GeneIDi977.
    KEGGihsa:977.
    UCSCiuc001lry.3. human.

    Polymorphism databases

    DMDMi85687560.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    dbRBC/BGMUT

    Blood group antigen gene mutation database

    SeattleSNPs
    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U14650 mRNA. Translation: AAA87064.1 .
    D29963 mRNA. Translation: BAA06229.1 .
    AF315942 Genomic DNA. Translation: AAK14179.1 .
    BT007397 mRNA. Translation: AAP36061.1 .
    BT020132 mRNA. Translation: AAV38934.1 .
    CR456826 mRNA. Translation: CAG33107.1 .
    CR542098 mRNA. Translation: CAG46895.1 .
    AK293073 mRNA. Translation: BAF85762.1 .
    DQ074789 Genomic DNA. Translation: AAY68211.1 .
    AP006621 Genomic DNA. No translation available.
    AP006623 Genomic DNA. No translation available.
    CH471158 Genomic DNA. Translation: EAX02400.1 .
    BC001374 mRNA. Translation: AAH01374.1 .
    BC013302 mRNA. Translation: AAH13302.1 .
    CCDSi CCDS7719.1.
    RefSeqi NP_001034579.1. NM_001039490.1.
    NP_004348.2. NM_004357.4.
    NP_620598.1. NM_139029.1.
    NP_620599.1. NM_139030.3.
    UniGenei Hs.654379.

    3D structure databases

    ProteinModelPortali P48509.
    SMRi P48509. Positions 112-219.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107415. 6 interactions.
    STRINGi 9606.ENSP00000324101.

    PTM databases

    PhosphoSitei P48509.

    Polymorphism databases

    DMDMi 85687560.

    Proteomic databases

    MaxQBi P48509.
    PaxDbi P48509.
    PeptideAtlasi P48509.
    PRIDEi P48509.

    Protocols and materials databases

    DNASUi 977.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000322008 ; ENSP00000324101 ; ENSG00000177697 .
    ENST00000397420 ; ENSP00000380565 ; ENSG00000177697 .
    ENST00000397421 ; ENSP00000380566 ; ENSG00000177697 .
    ENST00000530726 ; ENSP00000432385 ; ENSG00000177697 .
    GeneIDi 977.
    KEGGi hsa:977.
    UCSCi uc001lry.3. human.

    Organism-specific databases

    CTDi 977.
    GeneCardsi GC11P000835.
    HGNCi HGNC:1630. CD151.
    HPAi CAB002428.
    HPA011906.
    MIMi 179620. phenotype.
    602243. gene.
    609057. phenotype.
    neXtProti NX_P48509.
    Orphaneti 300333. Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome.
    PharmGKBi PA26189.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG281510.
    HOGENOMi HOG000230651.
    HOVERGENi HBG107306.
    InParanoidi P48509.
    KOi K06537.
    OMAi RVYFILL.
    OrthoDBi EOG7PGDRZ.
    PhylomeDBi P48509.
    TreeFami TF352892.

    Enzyme and pathway databases

    Reactomei REACT_150180. Assembly of collagen fibrils and other multimeric structures.
    REACT_20537. Type I hemidesmosome assembly.

    Miscellaneous databases

    ChiTaRSi CD151. human.
    GeneWikii CD151.
    GenomeRNAii 977.
    NextBioi 4102.
    PROi P48509.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P48509.
    Bgeei P48509.
    CleanExi HS_CD151.
    Genevestigatori P48509.

    Family and domain databases

    InterProi IPR000301. Tetraspanin.
    IPR018499. Tetraspanin/Peripherin.
    IPR018503. Tetraspanin_CS.
    IPR008952. Tetraspanin_EC2.
    [Graphical view ]
    Pfami PF00335. Tetraspannin. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF002419. Tetraspanin. 1 hit.
    PRINTSi PR00259. TMFOUR.
    SUPFAMi SSF48652. SSF48652. 1 hit.
    PROSITEi PS00421. TM4_1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning of cDNA encoding a novel platelet-endothelial cell tetra-span antigen, PETA-3."
      Fitter S., Tetaz T.J., Berndt M.C., Ashman L.K.
      Blood 86:1348-1355(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Platelet.
    2. "SFA-1, a novel cellular gene induced by human T-cell leukemia virus type 1, is a member of the transmembrane 4 superfamily."
      Hasegawa H., Utsunomiya Y., Kishimoto K., Yanagisawa K., Fujita S.
      J. Virol. 70:3258-3263(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ARG-132 AND SER-137.
    3. "Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene."
      Whittock N.V., McLean W.H.I.
      Biochem. Biophys. Res. Commun. 281:425-430(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ARG-132 AND SER-137.
    4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    6. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    7. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Uterus.
    8. SeattleSNPs variation discovery resource
      Submitted (MAY-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT MET-120.
    9. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    10. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    11. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Colon and Kidney.
    12. "Palmitoylation of tetraspanin proteins: modulation of CD151 lateral interactions, subcellular distribution, and integrin-dependent cell morphology."
      Yang X., Claas C., Kraeft S.K., Chen L.B., Wang Z., Kreidberg J.A., Hemler M.E.
      Mol. Biol. Cell 13:767-781(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: PALMITOYLATION AT CYS-11; CYS-15; CYS-242 AND CYS-243.
    13. "CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin."
      Karamatic Crew V., Burton N., Kagan A., Green C.A., Levene C., Flinter F., Brady R.L., Daniels G., Anstee D.J.
      Blood 104:2217-2223(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY, INVOLVEMENT IN RAPH BLOOD GROUP SYSTEM, INVOLVEMENT IN NPEBD, VARIANT HIS-178.
    14. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiCD151_HUMAN
    AccessioniPrimary (citable) accession number: P48509
    Secondary accession number(s): A8KAK8
    , E9PI15, Q14826, Q86U54, Q96TE3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1996
    Last sequence update: January 24, 2006
    Last modified: October 1, 2014
    This is version 134 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Blood group antigen proteins
      Nomenclature of blood group antigens and list of entries
    2. Human cell differentiation molecules
      CD nomenclature of surface proteins of human leucocytes and list of entries
    3. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    4. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    5. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    6. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3