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    TSPAN3 tetraspanin 3 [ Homo sapiens (human) ]

    Gene ID: 10099, updated on 11-Apr-2024

    Summary

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    Official Symbol
    TSPAN3provided by HGNC
    Official Full Name
    tetraspanin 3provided by HGNC
    Primary source
    HGNC:HGNC:17752
    See related
    Ensembl:ENSG00000140391 MIM:613134; AllianceGenome:HGNC:17752
    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
    TM4-A; TM4SF8; TSPAN-3
    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. The use of alternate polyadenylation sites has been found for this gene. Multiple alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Dec 2009]
    Expression
    Ubiquitous expression in fat (RPKM 113.6), colon (RPKM 109.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    15q24.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (77041404..77071109, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (74901964..74931645, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (77333745..77363451, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9885 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6694 Neighboring gene keratin 8 pseudogene 23 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:77306630-77307130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:77311440-77312012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9887 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9888 Neighboring gene proline-serine-threonine phosphatase interacting protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:77325558-77326195 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:77326833-77327470 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:77327471-77328106 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:77335480-77336679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6695 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6696 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:77376319-77376819 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:77406591-77406779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:77429442-77429992 Neighboring gene pseudopodium enriched atypical kinase 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:77448039-77448540 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:77448541-77449040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9893 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 27 Neighboring gene long intergenic non-protein coding RNA 597

    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
    • 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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    Related articles in PubMed

    1. Tetraspanins: Spanning from solid tumors to hematologic malignancies. Yang YG, et al. Exp Hematol, 2016 May. PMID 26930362
    2. Activation of globin gene expression by cDNAs from induced K562 cells. Evidence for involvement of ferritin in globin gene expression. Wu YJ, et al. J Biol Chem, 1991 Sep 15. PMID 1840594
    3. Tumor suppressor miR-139-5p targets Tspan3 and regulates the progression of acute myeloid leukemia through the PI3K/Akt pathway. Zhang R, et al. J Cell Biochem, 2019 Mar. PMID 30367526
    4. LncRNA KCNQ1OT1 contributes to the progression and chemoresistance in acute myeloid leukemia by modulating Tspan3 through suppressing miR-193a-3p. Sun H, et al. Life Sci, 2020 Jan 15. PMID 31837329
    5. Tetraspanin 3 Is Required for the Development and Propagation of Acute Myelogenous Leukemia. Kwon HY, et al. Cell Stem Cell, 2015 Aug 6. PMID 26212080, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. study concluded that miR-139-5p suppressed the leukemogenesis in acute myeloid leukemia (AML) cells by targeting Tspan3 through inactivation of the PI3K/Akt pathway, providing a better understanding of AML progression.
      Title: Tumor suppressor miR-139-5p targets Tspan3 and regulates the progression of acute myeloid leukemia through the PI3K/Akt pathway.
    2. High TSPAN3 expression is associated with progression and chemoresistance in acute myeloid leukemia.
      Title: LncRNA KCNQ1OT1 contributes to the progression and chemoresistance in acute myeloid leukemia by modulating Tspan3 through suppressing miR-193a-3p.
    3. Tspan3 is a central endocytic membrane component regulating the expression of ADAM10, presenilin and the amyloid precursor protein.
      Title: Tetraspanin 3: A central endocytic membrane component regulating the expression of ADAM10, presenilin and the amyloid precursor protein.
    4. Studies indicate that tetraspanin 3 has a critical role in acute myeloid leukemia.
      Title: Tetraspanins: Spanning from solid tumors to hematologic malignancies.
    5. Tspan3 is an important regulator of aggressive leukemias.
      Title: Tetraspanin 3 Is Required for the Development and Propagation of Acute Myelogenous Leukemia.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    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 molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    tetraspanin-3
    Names
    tetraspan 3
    tetraspan TM4SF
    tetraspanin TM4-A
    transmembrane 4 superfamily member 8
    NP_001161884.1
    NP_005715.1
    NP_944492.1
    XP_016877346.1
    XP_054233145.1

    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_001168412.2 → NP_001161884.1  tetraspanin-3 isoform 3

      See identical proteins and their annotated locations for NP_001161884.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AA554982, AC090181, AK298157, KF510412
      Consensus CDS
      CCDS53963.1
      UniProtKB/TrEMBL
      H0YKJ9
      Related
      ENSP00000407243.3, ENST00000424443.7
      Conserved Domains (1) summary
      cd03163
      Location:40 → 146
      TM4SF8_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF8_like subfamily. 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 ...

    2. NM_005724.6 → NP_005715.1  tetraspanin-3 isoform 1

      See identical proteins and their annotated locations for NP_005715.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AA554982, AC090181, BC011206, KF510412
      Consensus CDS
      CCDS10292.1
      UniProtKB/Swiss-Prot
      A6NEH4, B3KQQ2, B4DP19, O60637, Q9BW22, Q9NVX9
      Related
      ENSP00000267970.4, ENST00000267970.9
      Conserved Domains (2) summary
      cd03163
      Location:104 → 210
      TM4SF8_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF8_like subfamily. 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:9 → 232
      Tetraspannin; Tetraspanin family

    3. NM_198902.3 → NP_944492.1  tetraspanin-3 isoform 2

      See identical proteins and their annotated locations for NP_944492.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AA554982, AC090181, AK075482, KF510412
      Consensus CDS
      CCDS10293.1
      UniProtKB/Swiss-Prot
      O60637
      Related
      ENSP00000341329.2, ENST00000346495.6
      Conserved Domains (1) summary
      cd03163
      Location:84 → 185
      TM4SF8_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF8_like subfamily. 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 ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      77041404..77071109 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021857.2 → XP_016877346.1  tetraspanin-3 isoform X1

      UniProtKB/TrEMBL
      B4DEK8
      Conserved Domains (1) summary
      cd03163
      Location:65 → 171
      TM4SF8_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF8_like subfamily. 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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      74901964..74931645 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377170.1 → XP_054233145.1  tetraspanin-3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60637.1 GenPept UniProtKB/Swiss-Prot:O60637

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