P48509 (CD151_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	CD151
Synonyms:	TSPAN24

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	253 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Essential for the proper assembly of the glomerular and tubular basement membranes in kidney. Ref.13
Subunit structure	Interacts with integrins alpha3beta1, alpha5beta1, alpha3beta1 and alpha6beta4, with CD9 and CD181.
Subcellular location	Membrane; Multi-pass membrane protein.
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. Ref.13
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	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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.13
Sequence similarities	Belongs to the tetraspanin (TM4SF) family.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Disease	Deafness Epidermolysis bullosa
Domain	Transmembrane Transmembrane helix
Molecular function	Blood group antigen
PTM	Glycoprotein Lipoprotein Palmitate
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	T cell proliferation Inferred from electronic annotation. Source: Compara cell adhesion Non-traceable author statement PubMed 9602068. Source: ProtInc cell migration Inferred from electronic annotation. Source: Compara extracellular matrix organization Traceable author statement. Source: Reactome hemidesmosome assembly Traceable author statement. Source: Reactome
Cellular_component	cytosol Traceable author statement. Source: Reactome integral to plasma membrane Traceable author statement Ref.2. Source: ProtInc
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	Helical; Potential
	Topological domain	40 – 57	18	Extracellular Potential
	Transmembrane	58 – 78	21	Helical; Potential
	Topological domain	79 – 91	13	Cytoplasmic Potential
	Transmembrane	92 – 112	21	Helical; Potential
	Topological domain	113 – 221	109	Extracellular Potential
	Transmembrane	222 – 242	21	Helical; Potential
	Topological domain	243 – 253	11	Cytoplasmic Potential
Amino acid modifications
	Lipidation	11	1	S-palmitoyl cysteine Ref.12
	Lipidation	15	1	S-palmitoyl cysteine Ref.12
	Lipidation	242	1	S-palmitoyl cysteine Ref.12
	Lipidation	243	1	S-palmitoyl cysteine Ref.12
	Glycosylation	159	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	120	1	T → M. Ref.8 Corresponds to variant rs34215390 [ dbSNP | Ensembl ].		VAR_025098
	Natural variant	132	1	K → R. Ref.2 Ref.3 Corresponds to variant rs55840993 [ dbSNP | Ensembl ].		VAR_012490
	Natural variant	137	1	P → S. Ref.2 Ref.3 Corresponds to variant rs55841393 [ dbSNP | Ensembl ].		VAR_012491
	Natural variant	178	1	R → H. Ref.13		VAR_021153

Sequences

	Sequence		Length	Mass (Da)
	P48509 [UniParc]. Last modified January 24, 2006. Version 3. Checksum: 0C8FE4CF2C3C286D	FASTA	253	28,295
	10 20 30 40 50 60 MGEFNEKKTT CGTVCLKYLL FTYNCCFWLA GLAVMAVGIW TLALKSDYIS LLASGTYLAT 70 80 90 100 110 120 AYILVVAGTV VMVTGVLGCC ATFKERRNLL RLYFILLLII FLLEIIAGIL AYAYYQQLNT 130 140 150 160 170 180 ELKENLKDTM TKRYHQPGHE AVTSAVDQLQ QEFHCCGSNN SQDWRDSEWI RSQEAGGRVV 190 200 210 220 230 240 PDSCCKTVVA LCGQRDHASN IYKVEGGCIT KLETFIQEHL RVIGAVGIGI ACVQVFGMIF 250 TCCLYRSLKL EHY

References

	« Hide 'large scale' referencesShow '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] [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]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y. Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[10]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Web resources

dbRBC/BGMUT

Blood group antigen gene mutation database

SeattleSNPs

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00298851.
RefSeq	NP_001034579.1. NM_001039490.1. NP_004348.2. NM_004357.4. NP_620598.1. NM_139029.1. NP_620599.1. NM_139030.3.
UniGene	Hs.654379.
3D structure databases
ProteinModelPortal	P48509.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000324101.
PTM databases
PhosphoSite	P48509.
Polymorphism databases
DMDM	85687560.
Proteomic databases
PaxDb	P48509.
PeptideAtlas	P48509.
PRIDE	P48509.
Protocols and materials databases
DNASU	977.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000322008; ENSP00000324101; ENSG00000177697. ENST00000397420; ENSP00000380565; ENSG00000177697. ENST00000397421; ENSP00000380566; ENSG00000177697. ENST00000530726; ENSP00000432385; ENSG00000177697.
GeneID	977.
KEGG	hsa:977.
UCSC	uc001lry.3. human.
Organism-specific databases
CTD	977.
GeneCards	GC11P000822.
HGNC	HGNC:1630. CD151.
HPA	CAB002428. HPA011906.
MIM	179620. phenotype. 602243. gene. 609057. phenotype.
neXtProt	NX_P48509.
Orphanet	300333. Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome.
PharmGKB	PA26189.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG281510.
HOGENOM	HOG000230651.
HOVERGEN	HBG107306.
InParanoid	P48509.
KO	K06537.
OMA	CKTVVAG.
OrthoDB	EOG46144V.
PhylomeDB	P48509.
Enzyme and pathway databases
Reactome	REACT_111155. Cell-Cell communication. REACT_118779. Extracellular matrix organization.
Gene expression databases
ArrayExpress	P48509.
Bgee	P48509.
CleanEx	HS_CD151.
Genevestigator	P48509.
GermOnline	ENSG00000177697. Homo sapiens.
Family and domain databases
InterPro	IPR000301. Tetraspanin. IPR018499. Tetraspanin/Peripherin. IPR018503. Tetraspanin_CS. IPR008952. Tetraspanin_EC2. [Graphical view]
Pfam	PF00335. Tetraspannin. 1 hit. [Graphical view]
PIRSF	PIRSF002419. Tetraspanin. 1 hit.
PRINTS	PR00259. TMFOUR.
SUPFAM	SSF48652. Tetraspanin. 1 hit.
PROSITE	PS00421. TM4_1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	CD151. human.
GenomeRNAi	977.
NextBio	4102.
SOURCE	Search...

Entry information

Entry name

CD151_HUMAN

Accession

Primary (citable) accession number: P48509
Secondary accession number(s): A8KAK8 , E9PI15, Q14826, Q86U54, Q96TE3

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1996
Last sequence update:	January 24, 2006
Last modified:	May 29, 2013
This is version 123 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.