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    TM4SF1 transmembrane 4 L six family member 1 [ Homo sapiens (human) ]

    Gene ID: 4071, updated on 6-Jun-2024

    Summary

    Official Symbol
    TM4SF1provided by HGNC
    Official Full Name
    transmembrane 4 L six family member 1provided by HGNC
    Primary source
    HGNC:HGNC:11853
    See related
    Ensembl:ENSG00000169908 MIM:191155; AllianceGenome:HGNC:11853
    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
    L6; H-L6; M3S1; TAAL6
    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 antigen and is highly expressed in different carcinomas. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in gall bladder (RPKM 142.0), lung (RPKM 138.0) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TM4SF1 in Genome Data Viewer
    Location:
    3q25.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (149369022..149377649, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (152119778..152128405, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (149086809..149095436, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene TM4SF18 antisense RNA 1 Neighboring gene transmembrane 4 L six family member 18 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_65218 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:149057296-149058495 Neighboring gene ribosomal protein S25 pseudogene 5 Neighboring gene TM4SF1 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:149104555-149105754 Neighboring gene uncharacterized LOC105374151

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of transmembrane 4 L six family member 1 (TM4SF1; L6) in peptide-treated PBMCs PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    involved_in blastocyst formation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    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 1
    Names
    membrane component, chromosome 3, surface marker 1
    transmembrane 4 superfamily member 1
    tumor-associated antigen L6

    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_001410837.1NP_001397766.1  transmembrane 4 L6 family member 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC073522, AC108751
      Consensus CDS
      CCDS93404.1
      UniProtKB/TrEMBL
      F8WBG6, F8WF27
      Related
      ENSP00000419426.1, ENST00000493348.1
    2. NM_014220.3NP_055035.1  transmembrane 4 L6 family member 1 isoform 1

      See identical proteins and their annotated locations for NP_055035.1

      Status: REVIEWED

      Source sequence(s)
      AC073522, AC108751, AK130271
      Consensus CDS
      CCDS3143.1
      UniProtKB/Swiss-Prot
      P30408, Q6IB51
      UniProtKB/TrEMBL
      E7EX36, Q8NE91
      Related
      ENSP00000304277.3, ENST00000305366.8
      Conserved Domains (1) summary
      pfam05805
      Location:1194
      L6_membrane; L6 membrane protein

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      149369022..149377649 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006385.3XP_016861874.1  transmembrane 4 L6 family member 1 isoform X1

      UniProtKB/TrEMBL
      E7EX36, Q8NE91

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      152119778..152128405 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346514.1XP_054202489.1  transmembrane 4 L6 family member 1 isoform X1

      UniProtKB/TrEMBL
      E7EX36, Q8NE91