ENSG00000177697


Homo sapiens

Features
Gene ID: ENSG00000177697
  
Biological name :CD151
  
Synonyms : CD151 / CD151 molecule (Raph blood group) / P48509
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: p15.5
Gene start: 832843
Gene end: 839831
  
Corresponding Affymetrix probe sets: 204306_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000431403
Ensembl peptide - ENSP00000431671
Ensembl peptide - ENSP00000436591
Ensembl peptide - ENSP00000435854
Ensembl peptide - ENSP00000435054
Ensembl peptide - ENSP00000434663
Ensembl peptide - ENSP00000433787
Ensembl peptide - ENSP00000433752
Ensembl peptide - ENSP00000432990
Ensembl peptide - ENSP00000432385
Ensembl peptide - ENSP00000432258
Ensembl peptide - ENSP00000324101
Ensembl peptide - ENSP00000380565
Ensembl peptide - ENSP00000380566
NCBI entrez gene - 977     See in Manteia.
OMIM - 602243
RefSeq - NM_004357
RefSeq - NM_139029
RefSeq - NM_139030
RefSeq - NM_001039490
RefSeq Peptide - NP_004348
RefSeq Peptide - NP_620598
RefSeq Peptide - NP_620599
RefSeq Peptide - NP_001034579
swissprot - A0A024RCB3
swissprot - K4DIB7
swissprot - E9PSA1
swissprot - P48509
swissprot - E9PRJ3
swissprot - E9PP93
swissprot - E9PMR4
swissprot - E9PLZ6
swissprot - E9PK37
swissprot - E9PJE8
swissprot - E9PJC8
Ensembl - ENSG00000177697
  
Related genetic diseases (OMIM): 179620 - [Blood group, Raph], 179620
  609057 - Nephropathy with pretibial epidermolysis bullosa and deafness, 609057
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cd151ENSDARG00000038288Danio rerio
 cd151lENSDARG00000068629Danio rerio
 CD151ENSGALG00000006856Gallus gallus
 Cd151ENSMUSG00000025510Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
A1L157 / TSPAN11 / tetraspanin 11ENSG0000011090057
P41732 / TSPAN7 / tetraspanin 7ENSG0000015629829
Q96FV3 / TSPAN17 / tetraspanin 17ENSG0000004814028
O43657 / TSPAN6 / tetraspanin 6ENSG0000000000328
CD63 / P08962 / CD63 moleculeENSG0000013540427
Q86UF1 / TSPAN33 / tetraspanin 33ENSG0000015845727
P62079 / TSPAN5 / tetraspanin 5ENSG0000016878526
O60637 / TSPAN3 / tetraspanin 3ENSG0000014039126
AF241726.2ENSG0000025034926
TSPAN10 / tetraspanin 10ENSG0000018261225
Q8NG11 / TSPAN14 / tetraspanin 14ENSG0000010821925
O95858 / TSPAN15 / tetraspanin 15ENSG0000009928223


Protein motifs (from Interpro)
Interpro ID Name
 IPR000301  Tetraspanin
 IPR008952  Tetraspanin, EC2 domain superfamily
 IPR018499  Tetraspanin/Peripherin
 IPR018503  Tetraspanin, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion NAS
 biological_processGO:0007166 cell surface receptor signaling pathway IBA
 biological_processGO:0016477 cell migration IEA
 biological_processGO:0030335 positive regulation of cell migration IMP
 biological_processGO:0031581 hemidesmosome assembly TAS
 biological_processGO:0042098 T cell proliferation IEA
 biological_processGO:0044319 wound healing, spreading of cells IMP
 biological_processGO:0045807 positive regulation of endocytosis IMP
 cellular_componentGO:0005604 basement membrane IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane NAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane TAS
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005178 integrin binding IDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Assembly of collagen fibrils and other multimeric structures
Type I hemidesmosome assembly


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000112 Nephropathy "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators]
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 HP:0000123 Nephritis "The presence of inflammation affecting the kidney." [HPO:curators]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0003774 End stage renal disease 
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 HP:0007678 Nasolacrimal duct stenosis 
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 HP:0008404 Nail dystrophy, variable 
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 HP:0011906 Reduced beta/alpha synthesis ratio "A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia." [HPO:probinson, pmid:1060068]
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 HP:0012221 Pretibial blistering "A type of blistering that affects the skin of the tibial region." [HPO:probinson, pmid:15265795]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000186847 KRT14 / P02533 / keratin 14  / complex / reaction
 ENSG00000132470 ITGB4 / P16144 / integrin subunit beta 4  / complex / reaction
 ENSG00000186081 KRT5 / P13647 / keratin 5  / complex / reaction
 ENSG00000091409 ITGA6 / P23229 / integrin subunit alpha 6  / complex / reaction
 ENSG00000058085 LAMC2 / Q13753 / laminin subunit gamma 2  / reaction / complex
 ENSG00000053747 LAMA3 / Q16787 / laminin subunit alpha 3  / reaction / complex
 ENSG00000178209 PLEC / Q15149 / plectin  / complex / reaction
 ENSG00000151914 DST / Q03001 / dystonin  / reaction / complex
 ENSG00000196878 LAMB3 / Q13751 / laminin subunit beta 3  / reaction / complex
 ENSG00000065618 Q9UMD9 / COL17A1 / collagen type XVII alpha 1 chain  / reaction / complex






 

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