CD151 CD151 molecule (Raph blood group) [Homo sapiens (human)] - Gene

Summary

Official Symbol: CD151provided by HGNC
Official Full Name: CD151 molecule (Raph blood group)provided by HGNC
Primary source: HGNC:HGNC:1630
See related: Ensembl:ENSG00000177697 MIM:602243; AllianceGenome:HGNC:1630
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EBS7; GP27; MER2; RAPH; SFA1; PETA-3; TSPAN24
Summary: 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]
Expression: Ubiquitous expression in fat (RPKM 188.8), lung (RPKM 142.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.5

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (832952..838831)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (884376..890206)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (832952..838831)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

INHIBITION OF INTEGRIN VLA-3 AND TETRASPANIN CD151 PROTECTS AGAINST NEUTROPHIL-MEDIATED ENDOTHELIAL DAMAGE.
Title: INHIBITION OF INTEGRIN VLA-3 AND TETRASPANIN CD151 PROTECTS AGAINST NEUTROPHIL-MEDIATED ENDOTHELIAL DAMAGE.
CD151 Maintains Endolysosomal Protein Quality to Inhibit Vascular Inflammation.
Title: CD151 Maintains Endolysosomal Protein Quality to Inhibit Vascular Inflammation.
CD151 expression marks atrial- and ventricular- differentiation from human induced pluripotent stem cells.
Title: CD151 expression marks atrial- and ventricular- differentiation from human induced pluripotent stem cells.
CD151 and prostate cancer progression: A review of current literature.
Title: CD151 and prostate cancer progression: A review of current literature.
Exploring the role of CD151 in the tumor immune microenvironment: Therapeutic and clinical perspectives.
Title: Exploring the role of CD151 in the tumor immune microenvironment: Therapeutic and clinical perspectives.
Proteomic Landscape of Exosomes Reveals the Functional Contributions of CD151 in Triple-Negative Breast Cancer.
Title: Proteomic Landscape of Exosomes Reveals the Functional Contributions of CD151 in Triple-Negative Breast Cancer.
CD151 promotes Colorectal Cancer progression by a crosstalk involving CEACAM6, LGR5 and Wnt signaling via TGFbeta1.
Title: CD151 promotes Colorectal Cancer progression by a crosstalk involving CEACAM6, LGR5 and Wnt signaling via TGFβ1.
CD151 drives cancer progression depending on integrin alpha3beta1 through EGFR signaling in non-small cell lung cancer.
Title: CD151 drives cancer progression depending on integrin α3β1 through EGFR signaling in non-small cell lung cancer.
circCD151 promotes GLI2 expression by regulating miR30d5p and enhancing proliferation, invasion and stemness of lung cancer.
Title: circCD151 promotes GLI2 expression by regulating miR‑30d‑5p and enhancing proliferation, invasion and stemness of lung cancer.
CD151 enrichment in exosomes of luminal androgen receptor breast cancer cell line contributes to cell invasion.
Title: CD151 enrichment in exosomes of luminal androgen receptor breast cancer cell line contributes to cell invasion.

Submit: New GeneRIF Correction See all GeneRIFs (125)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Epidermolysis bullosa simplex 7, with nephropathy and deafness MedGen: C1836823 OMIM: 609057 GeneReviews: Epidermolysis Bullosa Simplex	not available
RAPH BLOOD GROUP SYSTEM MedGen: C1867341 OMIM: 179620 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Downregulation of guanine nucleotide-releasing protein, CD151/PETA-3, neuronatin, neuroendocrine differentiation factor, mitochondria 16s rRNA, and signal recognition particle is observed in HIV-1 infected and HIV-1 gp120-treated astrocytes	PubMed
Nef	nef	HIV-1 Nef downregulates the cell surface expression of CD151 (TSPAN24)	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables integrin binding	IDA Inferred from Direct Assay more info	PubMed
enables integrin binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of endocytosis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within wound healing, spreading of cells	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within wound healing, spreading of cells	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in focal adhesion	HDA more info	PubMed
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: CD151 antigen

Names: CD151 antigen (Raph blood group); hemidesmosomal tetraspanin CD151; membrane glycoprotein SFA-1; platelet surface glycoprotein gp27; platelet-endothelial cell tetraspan antigen 3; platelet-endothelial tetraspan antigen 3; tetraspanin-24; tspan-24

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007478.1 RefSeqGene

Range

5001..10880

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_817

mRNA and Protein(s)

NM_001039490.2 → NP_001034579.1 CD151 antigen

See identical proteins and their annotated locations for NP_001034579.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate segment of sequence in the 5' UTR, compared to variant 1. All variants encode the same protein.

Source sequence(s)

AK130369, AU099249, BC001374, BQ957432

Consensus CDS

CCDS7719.1

UniProtKB/Swiss-Prot

A8KAK8, E9PI15, P48509, Q14826, Q86U54, Q96TE3

UniProtKB/TrEMBL

A0A6M5CDG2, A0A6M5CH24, A0A6M5CII8, Q53FU5

Conserved Domains (2) summary

cd03155
Location:112 → 220

CD151_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD151_Like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model ...

pfam00335
Location:16 → 244

Tetraspannin; Tetraspanin family
NM_004357.5 → NP_004348.2 CD151 antigen

See identical proteins and their annotated locations for NP_004348.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) is the longest transcript. All variants encode the same protein.

Source sequence(s)

AK130369, AU099249, BC001374

Consensus CDS

CCDS7719.1

UniProtKB/Swiss-Prot

A8KAK8, E9PI15, P48509, Q14826, Q86U54, Q96TE3

UniProtKB/TrEMBL

A0A6M5CDG2, A0A6M5CH24, A0A6M5CII8, Q53FU5

Related

ENSP00000380565.3, ENST00000397420.9

Conserved Domains (2) summary

cd03155
Location:112 → 220

CD151_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD151_Like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model ...

pfam00335
Location:16 → 244

Tetraspannin; Tetraspanin family
NM_139029.2 → NP_620598.1 CD151 antigen

See identical proteins and their annotated locations for NP_620598.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR, compared to variant 1. All variants encode the same protein.

Source sequence(s)

AK130369, AU099249, BC001374, BC013302

Consensus CDS

CCDS7719.1

UniProtKB/Swiss-Prot

A8KAK8, E9PI15, P48509, Q14826, Q86U54, Q96TE3

UniProtKB/TrEMBL

A0A6M5CDG2, A0A6M5CH24, A0A6M5CII8, Q53FU5

Related

ENSP00000324101.4, ENST00000322008.9

Conserved Domains (2) summary

cd03155
Location:112 → 220

CD151_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD151_Like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model ...

pfam00335
Location:16 → 244

Tetraspannin; Tetraspanin family
NM_139030.4 → NP_620599.1 CD151 antigen

See identical proteins and their annotated locations for NP_620599.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate segment in the 5' UTR, compared to variant 1. All variants encode the same protein.

Source sequence(s)

AK130369, AU099249, BC001374

Consensus CDS

CCDS7719.1

UniProtKB/Swiss-Prot

A8KAK8, E9PI15, P48509, Q14826, Q86U54, Q96TE3

UniProtKB/TrEMBL

A0A6M5CDG2, A0A6M5CH24, A0A6M5CII8, Q53FU5

Related

ENSP00000380566.1, ENST00000397421.5

Conserved Domains (2) summary

cd03155
Location:112 → 220

CD151_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD151_Like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model ...

pfam00335
Location:16 → 244

Tetraspannin; Tetraspanin family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

832952..838831

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024448780.2 → XP_024304548.1 CD151 antigen isoform X1

UniProtKB/Swiss-Prot

A8KAK8, E9PI15, P48509, Q14826, Q86U54, Q96TE3

UniProtKB/TrEMBL

A0A6M5CDG2, A0A6M5CH24, A0A6M5CII8, Q53FU5

Conserved Domains (2) summary

cd03155
Location:112 → 220

CD151_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD151_Like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model ...

pfam00335
Location:16 → 244

Tetraspannin; Tetraspanin family