Human Gene CD151 (uc001lsb.3) Description and Page Index
  Description: Homo sapiens CD151 molecule (Raph blood group) (CD151), transcript variant 5, mRNA.
RefSeq Summary (NM_001039490): 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].
Transcript (Including UTRs)
   Position: hg19 chr11:832,952-838,835 Size: 5,884 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr11:836,070-838,192 Size: 2,123 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:832,952-838,835)mRNA (may differ from genome)Protein (253 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMGIneXtProtOMIM
PubMedReactomeStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: CD151_HUMAN
DESCRIPTION: RecName: Full=CD151 antigen; AltName: Full=GP27; AltName: Full=Membrane glycoprotein SFA-1; AltName: Full=Platelet-endothelial tetraspan antigen 3; Short=PETA-3; AltName: Full=Tetraspanin-24; Short=Tspan-24; AltName: CD_antigen=CD151;
FUNCTION: Essential for the proper assembly of the glomerular and tubular basement membranes in kidney.
SUBUNIT: 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.
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.
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.
SIMILARITY: Belongs to the tetraspanin (TM4SF) family.
WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene mutation database; URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=raph";
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/cd151/";

-  MalaCards Disease Associations
  MalaCards Gene Search: CD151
Diseases sorted by gene-association score: nephropathy with pretibial epidermolysis bullosa and deafness* (1370), skin squamous cell carcinoma (13), thalassemia minor (11), reticulate acropigmentation of kitamura (6), acute t cell leukemia (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 311.97 RPKM in Artery - Aorta
Total median expression: 3648.22 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -33.2078-0.426 Picture PostScript Text
3' UTR -283.06643-0.440 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000301 - Tetraspanin
IPR018499 - Tetraspanin/Peripherin
IPR018503 - Tetraspanin_CS
IPR008952 - Tetraspanin_EC2

Pfam Domains:
PF00335 - Tetraspanin family

SCOP Domains:
48652 - Tetraspanin

ModBase Predicted Comparative 3D Structure on P48509
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005178 integrin binding
GO:0005515 protein binding

Biological Process:
GO:0007155 cell adhesion
GO:0007166 cell surface receptor signaling pathway
GO:0016477 cell migration
GO:0030335 positive regulation of cell migration
GO:0031581 hemidesmosome assembly
GO:0042098 T cell proliferation
GO:0044319 wound healing, spreading of cells
GO:0045807 positive regulation of endocytosis

Cellular Component:
GO:0005604 basement membrane
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005925 focal adhesion
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  LF207971 - JP 2014500723-A/15474: Polycomb-Associated Non-Coding RNAs.
AK130369 - Homo sapiens cDNA FLJ26859 fis, clone PRS08290.
JD404702 - Sequence 385726 from Patent EP1572962.
AK293073 - Homo sapiens cDNA FLJ77401 complete cds, highly similar to Homo sapiens CD151 antigen (CD151), transcript variant 1, mRNA.
BC013302 - Homo sapiens CD151 molecule (Raph blood group), mRNA (cDNA clone MGC:4431 IMAGE:2958615), complete cds.
U14650 - Human platelet-endothelial tetraspan antigen 3 mRNA, complete cds.
AL161965 - Homo sapiens mRNA; cDNA DKFZp564C2282 (from clone DKFZp564C2282).
AK223186 - Homo sapiens mRNA for CD151 antigen variant, clone: REC00103.
D29963 - Homo sapiens mRNA for CD151, complete cds.
BC001374 - Homo sapiens CD151 molecule (Raph blood group), mRNA (cDNA clone MGC:1524 IMAGE:3051297), complete cds.
JD025906 - Sequence 6930 from Patent EP1572962.
JD235520 - Sequence 216544 from Patent EP1572962.
LF370584 - JP 2014500723-A/178087: Polycomb-Associated Non-Coding RNAs.
KJ896573 - Synthetic construct Homo sapiens clone ccsbBroadEn_05967 CD151 gene, encodes complete protein.
KR710268 - Synthetic construct Homo sapiens clone CCSBHm_00010914 CD151 (CD151) mRNA, encodes complete protein.
KR710269 - Synthetic construct Homo sapiens clone CCSBHm_00010915 CD151 (CD151) mRNA, encodes complete protein.
CR456826 - Homo sapiens full open reading frame cDNA clone RZPDo834F0315D for gene CD151, CD151 antigen; complete cds, incl. stopcodon.
AB590359 - Synthetic construct DNA, clone: pFN21AE1379, Homo sapiens CD151 gene for CD151 molecule, without stop codon, in Flexi system.
CR542098 - Homo sapiens full open reading frame cDNA clone RZPDo834A1037D for gene CD151, CD151 antigen; complete cds, without stopcodon.
BT007397 - Homo sapiens CD151 antigen mRNA, complete cds.
BT020132 - Homo sapiens CD151 antigen mRNA, complete cds.
DQ893670 - Synthetic construct clone IMAGE:100006300; FLH187943.01X; RZPDo839E10150D CD151 molecule (Raph blood group) (CD151) gene, encodes complete protein.
DQ895817 - Synthetic construct Homo sapiens clone IMAGE:100010277; FLH187939.01L; RZPDo839E10149D CD151 molecule (Raph blood group) (CD151) gene, encodes complete protein.
LF370586 - JP 2014500723-A/178089: Polycomb-Associated Non-Coding RNAs.
LF370587 - JP 2014500723-A/178090: Polycomb-Associated Non-Coding RNAs.
LF370588 - JP 2014500723-A/178091: Polycomb-Associated Non-Coding RNAs.
LF370589 - JP 2014500723-A/178092: Polycomb-Associated Non-Coding RNAs.
JD024815 - Sequence 5839 from Patent EP1572962.
LF370590 - JP 2014500723-A/178093: Polycomb-Associated Non-Coding RNAs.
JD071736 - Sequence 52760 from Patent EP1572962.
JD058949 - Sequence 39973 from Patent EP1572962.
JD145265 - Sequence 126289 from Patent EP1572962.
JD278224 - Sequence 259248 from Patent EP1572962.
JD195530 - Sequence 176554 from Patent EP1572962.
JD559460 - Sequence 540484 from Patent EP1572962.
JD392577 - Sequence 373601 from Patent EP1572962.
JD306874 - Sequence 287898 from Patent EP1572962.
JD426084 - Sequence 407108 from Patent EP1572962.
JD306759 - Sequence 287783 from Patent EP1572962.
LF370591 - JP 2014500723-A/178094: Polycomb-Associated Non-Coding RNAs.
JD230750 - Sequence 211774 from Patent EP1572962.
JD453725 - Sequence 434749 from Patent EP1572962.
JD500227 - Sequence 481251 from Patent EP1572962.
JD565148 - Sequence 546172 from Patent EP1572962.
JD260189 - Sequence 241213 from Patent EP1572962.
JD056018 - Sequence 37042 from Patent EP1572962.
JD099109 - Sequence 80133 from Patent EP1572962.
JD419565 - Sequence 400589 from Patent EP1572962.
LF370592 - JP 2014500723-A/178095: Polycomb-Associated Non-Coding RNAs.
JD385988 - Sequence 367012 from Patent EP1572962.
JD052018 - Sequence 33042 from Patent EP1572962.
JD506229 - Sequence 487253 from Patent EP1572962.
JD374208 - Sequence 355232 from Patent EP1572962.
MA606161 - JP 2018138019-A/178087: Polycomb-Associated Non-Coding RNAs.
MA606163 - JP 2018138019-A/178089: Polycomb-Associated Non-Coding RNAs.
MA606164 - JP 2018138019-A/178090: Polycomb-Associated Non-Coding RNAs.
MA606165 - JP 2018138019-A/178091: Polycomb-Associated Non-Coding RNAs.
MA606166 - JP 2018138019-A/178092: Polycomb-Associated Non-Coding RNAs.
MA606167 - JP 2018138019-A/178093: Polycomb-Associated Non-Coding RNAs.
MA606168 - JP 2018138019-A/178094: Polycomb-Associated Non-Coding RNAs.
MA606169 - JP 2018138019-A/178095: Polycomb-Associated Non-Coding RNAs.
MA443548 - JP 2018138019-A/15474: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P48509 (Reactome details) participates in the following event(s):

R-HSA-446083 CD151 interacts with BP180 and the integrin alpha 6 subunit
R-HSA-2213192 Hemidesmosome formation
R-HSA-446077 BP230 interacts with keretin K5/K14
R-HSA-446107 Type I hemidesmosome assembly
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-446728 Cell junction organization
R-HSA-1474290 Collagen formation
R-HSA-1500931 Cell-Cell communication
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: A8KAK8, CD151_HUMAN, E9PI15, NM_001039490, NP_620599, P48509, Q14826, Q86U54, Q96TE3, TSPAN24
UCSC ID: uc001lsb.3
RefSeq Accession: NM_001039490
Protein: P48509 (aka CD151_HUMAN or C151_HUMAN)
CCDS: CCDS7719.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001039490.1
exon count: 8CDS single in 3' UTR: no RNA size: 1508
ORF size: 762CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1465.00frame shift in genome: no % Coverage: 98.34
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 468# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.