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    TM4SF5 transmembrane 4 L six family member 5 [ Homo sapiens (human) ]

    Gene ID: 9032, updated on 28-Oct-2024

    Summary

    Official Symbol
    TM4SF5provided by HGNC
    Official Full Name
    transmembrane 4 L six family member 5provided by HGNC
    Primary source
    HGNC:HGNC:11857
    See related
    Ensembl:ENSG00000142484 MIM:604657; AllianceGenome:HGNC:11857
    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
    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 and is highly similar in sequence and structure to transmembrane 4 superfamily member 1. It may play a role in cell proliferation, and overexpression of this protein may be associated with the uncontrolled growth of tumour cells. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in duodenum (RPKM 71.1), small intestine (RPKM 65.8) and 4 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TM4SF5 in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4771886..4783211)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4661554..4672877)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4675181..4686506)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4634559-4635378 Neighboring gene mediator complex subunit 11 Neighboring gene C-X-C motif chemokine ligand 16 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4641736-4642641 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4642642-4643546 Neighboring gene zinc finger MYND-type containing 15 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:4667359-4667521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8044 Neighboring gene vitelline membrane outer layer 1 homolog Neighboring gene glycolipid transfer protein domain containing 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    EBI GWAS Catalog
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables arginine binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in regulation of G1/S transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    transmembrane 4 L6 family member 5
    Names
    tetraspan transmembrane protein L6H
    transmembrane 4 superfamily member 5

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_003963.3NP_003954.2  transmembrane 4 L6 family member 5

      See identical proteins and their annotated locations for NP_003954.2

      Status: REVIEWED

      Source sequence(s)
      AC091153, AC233723
      Consensus CDS
      CCDS11054.1
      UniProtKB/Swiss-Prot
      O14894, Q17RW9, Q6IB79
      UniProtKB/TrEMBL
      Q6FHF6
      Related
      ENSP00000270560.3, ENST00000270560.4
      Conserved Domains (1) summary
      pfam05805
      Location:1190
      L6_membrane; L6 membrane protein

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      4771886..4783211
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      4661554..4672877
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)