Reviewed,
UniProtKB/Swiss-Prot P48509 (CD151_HUMAN)
Last modified
November 25, 2008.
Version 76.
History...
Clusters with 100%,
90%,
50% identity |
Documents (8) |
Third-party data |
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Names and origin
| Protein names | Recommended name: CD151 antigen Alternative name(s): Platelet-endothelial tetraspan antigen 3 Short name=PETA-3 GP27 Membrane glycoprotein SFA-1 Tetraspanin-24 Short name=Tspan-24 CD_antigen=CD151 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 253 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Essential for the proper assembly of the glomerular and tubular basement membranes in kidney. |
| Subunit structure | Interacts with integrins alpha3beta1, alpha5beta1, alpha3beta1 and alpha6beta4, with CD9 and CD181. |
| Subcellular location | |
| Tissue specificity | 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. |
| Induction | By HTLV-1. |
| Polymorphism | CD151 defines the MER2=RAPH1 antigen of the RAPH blood group system. 92% of Caucasians are MER2-positive and 8% are apparently MER2-negative. |
| Involvement in disease | Defects in CD151 are the cause of nephropathy with pretibial epidermolysis bullosa and deafness (NPEBD) [MIM:609057]. NPEBD is characterized by the association of hereditary nephritis, epidermolysis bullosa, deafness, and beta-thalassemia minor. |
| Sequence similarities | Belongs to the tetraspanin (TM4SF) family. |
Ontologies
Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Polymorphism |
| Disease | Deafness Epidermolysis bullosa |
| Domain | Transmembrane |
| Molecular function | Blood group antigen |
| PTM | Glycoprotein Lipoprotein Palmitate |
Gene Ontology (GO) | |
| Biological process | cell adhesion Non-traceable author statement. Source: ProtInc sensory perception of soundInferred from electronic annotation. Source: UniProtKB-KW visual perceptionInferred from electronic annotation. Source: InterPro |
| Cellular component | integral to plasma membrane Ref.2 Traceable author statement. Source: ProtInc membrane fraction Ref.2Traceable author statement. Source: ProtInc |
| Molecular function | protein binding Inferred from physical interaction. Source: UniProtKB |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 253 | 253 | CD151 antigen | PRO_0000219230 | |||||
Regions | |||||||||
| Topological domain | 1 – 18 | 18 | Cytoplasmic Potential | ||||||
| Transmembrane | 19 – 39 | 21 | Potential | ||||||
| Topological domain | 40 – 57 | 18 | Extracellular Potential | ||||||
| Transmembrane | 58 – 78 | 21 | Potential | ||||||
| Topological domain | 79 – 91 | 13 | Cytoplasmic Potential | ||||||
| Transmembrane | 92 – 112 | 21 | Potential | ||||||
| Topological domain | 113 – 221 | 109 | Extracellular Potential | ||||||
| Transmembrane | 222 – 242 | 21 | Potential | ||||||
| Topological domain | 243 – 253 | 11 | Cytoplasmic Potential | ||||||
Amino acid modifications | |||||||||
| Lipidation | 11 | 1 | S-palmitoyl cysteine | ||||||
| Lipidation | 15 | 1 | S-palmitoyl cysteine | ||||||
| Lipidation | 242 | 1 | S-palmitoyl cysteine | ||||||
| Lipidation | 243 | 1 | S-palmitoyl cysteine | ||||||
| Glycosylation | 159 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Natural variant | 120 | 1 | T → M | VAR_025098 | |||||
| Natural variant | 132 | 1 | K → R | VAR_012490 | |||||
| Natural variant | 137 | 1 | P → S | VAR_012491 | |||||
| Natural variant | 178 | 1 | R → H | VAR_021153 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [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: 7632941] [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: 8627808] [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: 11181065] [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] | "SeattleSNPs. NHLBI HL66682 program for genomic applications, UW-FHCRC, Seattle, WA (URL: http://pga.gs.washington.edu)." Rieder M.J., Johanson E.J., da Ponte S.H., Hastings N.C., Ahearn M.O., Bertucci C.B., Wong M.W., Yi Q., Nickerson D.A. Submitted (MAY-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT MET-120. |
| [8] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Colon and Kidney. |
| [9] | "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: 11907260] [Abstract] Cited for: PALMITOYLATION AT CYS-11; CYS-15; CYS-242 AND CYS-243. |
| [10] | "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: 15265795] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY, INVOLVEMENT IN RAPH BLOOD GROUP SYSTEM, INVOLVEMENT IN NPEBD, VARIANT HIS-178. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| 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. DQ074789 Genomic DNA. Translation: AAY68211.1. BC001374 mRNA. Translation: AAH01374.1. BC013302 mRNA. Translation: AAH13302.1. | |
| RefSeq | NP_001034579.1. NP_004348.2. NP_620598.1. NP_620599.1. |
| UniGene | Hs.654379 |
3D structure databases | |
| ModBase | Search... |
Polymorphism databases | |
| SeattleSNPs | Search... |
Proteomic databases | |
| PeptideAtlas | P48509. |
Genome annotation databases | |
| Ensembl | ENSG00000177697. Homo sapiens. [Contig view] |
| GeneID | 977. |
| KEGG | hsa:977. |
Organism-specific databases | |
| H-InvDB | HIX0021759. |
| HGNC | HGNC:1630. CD151. |
| HPA | CAB002428. HPA011906. |
| MIM | 179620. phenotype. 602243. gene. 609057. phenotype. |
| PharmGKB | PA26189. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOGENOM | P48509. |
| HOVERGEN | P48509. |
Gene expression databases | |
| CleanEx | HS_CD151. |
| GermOnline | ENSG00000177697. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000830. RDS_ROM. IPR000301. Transmem_4. [Graphical view] |
| Pfam | PF00335. Tetraspannin. 1 hit. [Graphical view] |
| PRINTS | PR00218. PERIPHERNRDS. PR00259. TMFOUR. |
| PROSITE | PS00421. TM4_1. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 4102. |
| SOURCE | Search... |
Entry information
| Entry name | CD151_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P48509 Secondary accession number(s): Q14826, Q86U54, Q96TE3 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Blood group antigen proteins Nomenclature of blood group antigens and list of entries |
| Human cell differentiation molecules CD nomenclature of surface proteins of human leucocytes and list of entries |
| Human chromosome 11 Human chromosome 11: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| UniProtKB secondary accession numbers Index of UniProtKB secondary accession numbers |
| SIMILARITY comments Index of protein domains and families |

Clusters with


