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    TSPAN1 tetraspanin 1 [ Homo sapiens (human) ]

    Gene ID: 10103, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TSPAN1provided by HGNC
    Official Full Name
    tetraspanin 1provided by HGNC
    Primary source
    HGNC:HGNC:20657
    See related
    Ensembl:ENSG00000117472 MIM:613170; AllianceGenome:HGNC:20657
    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
    NET1; TM4C; TM4SF
    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. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in colon (RPKM 237.8), prostate (RPKM 118.0) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TSPAN1 in Genome Data Viewer
    Location:
    1p34.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (46175087..46196489)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (46052282..46073710)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (46640759..46651634)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene P3R3URF-PIK3R3 readthrough Neighboring gene phosphoinositide-3-kinase regulatory subunit 3 Neighboring gene COX7B pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 992 Neighboring gene uncharacterized LOC101929626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 995 Neighboring gene PIK3R3 upstream open reading frame Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 838 Neighboring gene protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:46683827-46684328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:46685102-46685602 Neighboring gene leucine rich adaptor protein 1 Neighboring gene MPRA-validated peak204 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 839 Neighboring gene RAD54 like Neighboring gene leucine rich repeat containing 41

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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?
    1. TSPAN1 inhibits metastasis of nasopharyngeal carcinoma via suppressing NF-kB signaling.
      Title: TSPAN1 inhibits metastasis of nasopharyngeal carcinoma via suppressing NF-kB signaling.
    2. ALKBH5 Suppresses Autophagy in Prostate Cancer Cells via Inhibiting m6A-Modification of TSPAN1 mRNA.
      Title: ALKBH5 Suppresses Autophagy in Prostate Cancer Cells via Inhibiting m6A-Modification of TSPAN1 mRNA.
    3. The immunological characteristics of TSPAN1 expressing B cells in autoimmune hepatitis.
      Title: The immunological characteristics of TSPAN1 expressing B cells in autoimmune hepatitis.
    4. TSPAN1 promotes autophagy flux and mediates cooperation between WNT-CTNNB1 signaling and autophagy via the MIR454-FAM83A-TSPAN1 axis in pancreatic cancer.
      Title: TSPAN1 promotes autophagy flux and mediates cooperation between WNT-CTNNB1 signaling and autophagy via the MIR454-FAM83A-TSPAN1 axis in pancreatic cancer.
    5. Tetraspanin 1 (TSPAN1) promotes growth and transferation of breast cancer cells via mediating PI3K/Akt pathway.
      Title: Tetraspanin 1 (TSPAN1) promotes growth and transferation of breast cancer cells via mediating PI3K/Akt pathway.
    6. Tetraspanin 1 promotes endometriosis leading to ovarian clear cell carcinoma.
      Title: Tetraspanin 1 promotes endometriosis leading to ovarian clear cell carcinoma.
    7. Bioinformatics analysis reveals TSPAN1 as a candidate biomarker of progression and prognosis in pancreatic cancer.
      Title: Bioinformatics analysis reveals TSPAN1 as a candidate biomarker of progression and prognosis in pancreatic cancer.
    8. miR-573 suppresses pancreatic cancer cell proliferation, migration, and invasion through targeting TSPAN1.
      Title: miR-573 suppresses pancreatic cancer cell proliferation, migration, and invasion through targeting TSPAN1.
    9. Prognostic role of TSPAN1, KIAA1324 and ESRP1 in prostate cancer.
      Title: Prognostic role of TSPAN1, KIAA1324 and ESRP1 in prostate cancer.
    10. Silencing tetraspanin 1 (TSPAN1) promotes the phosphorylation of Smad2 protein (Smad2)/Smad3 protein (Smad3) and stabilizes beta-catenin protein.
      Title: Tetraspanin 1 as a mediator of fibrosis inhibits EMT process and Smad2/3 and beta-catenin pathway in human pulmonary fibrosis.
    Submit: New GeneRIF Correction See all GeneRIFs (33)

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in vesicle HDA PubMed 
    located_in vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tetraspanin-1
    Names
    tetraspan 1

    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.

    mRNA and Protein(s)

    1. NM_005727.4 → NP_005718.2  tetraspanin-1

      See identical proteins and their annotated locations for NP_005718.2

      Status: REVIEWED

      Source sequence(s)
      AF065388, AK313774, BM856468
      Consensus CDS
      CCDS530.1
      UniProtKB/Swiss-Prot
      D3DQ14, O60635, O60745, Q5VST0
      Related
      ENSP00000361072.1, ENST00000372003.6
      Conserved Domains (1) summary
      pfam00335
      Location:7 → 236
      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

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      46175087..46196489
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421003.1 → XP_047276959.1  tetraspanin-1 isoform X1

    2. XM_047420922.1 → XP_047276878.1  tetraspanin-1 isoform X1

    3. XM_047420982.1 → XP_047276938.1  tetraspanin-1 isoform X1

    4. XM_047420887.1 → XP_047276843.1  tetraspanin-1 isoform X1

    5. XM_047420946.1 → XP_047276902.1  tetraspanin-1 isoform X1

    6. XM_011540460.4 → XP_011538762.1  tetraspanin-1 isoform X1

      Conserved Domains (2) summary
      cd03156
      Location:110 → 212
      uroplakin_I_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), uroplakin_I_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 ...
      pfam00335
      Location:7 → 214
      Tetraspannin; Tetraspanin family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      46052282..46073710
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333729.1 → XP_054189704.1  tetraspanin-1 isoform X1

    2. XM_054333726.1 → XP_054189701.1  tetraspanin-1 isoform X1

    3. XM_054333728.1 → XP_054189703.1  tetraspanin-1 isoform X1

    4. XM_054333725.1 → XP_054189700.1  tetraspanin-1 isoform X1

    5. XM_054333727.1 → XP_054189702.1  tetraspanin-1 isoform X1

    6. XM_054333724.1 → XP_054189699.1  tetraspanin-1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60635.2 GenPept UniProtKB/Swiss-Prot:O60635

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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