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

    Gene ID: 4071, updated on 27-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See TM4SF1 in Genome Data Viewer
    Location:
    3q25.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (149369022..149377649, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (152119778..152128405, complement)
    RS_2024_09 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

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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. Role of TM4SF1 in regulating breast cancer cell migration and apoptosis through PI3K/AKT/mTOR pathway. Sun Y, et al. Int J Clin Exp Pathol, 2015. PMID 26464650, Free PMC Article
    2. Cloning and expression of the tumor-associated antigen L6. Marken JS, et al. Proc Natl Acad Sci U S A, 1992 Apr 15. PMID 1565644, Free PMC Article
    3. Molecular and functional characterization of the four-transmembrane molecule l6 in epidermal keratinocytes. Storim J, et al. Exp Cell Res, 2001 Jul 15. PMID 11426942
    4. The tumour-associated antigen L6 (L6-Ag) is recruited to the tetraspanin-enriched microdomains: implication for tumour cell motility. Lekishvili T, et al. J Cell Sci, 2008 Mar 1. PMID 18270265, Free PMC Article
    5. Combined omics analysis identifies transmembrane 4 L6 family member 1 as a surface protein marker specific to human mesenchymal stem cells. Bae S, et al. Stem Cells Dev, 2011 Feb. PMID 20486778

    See all (63) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Breast cancer malignancy is governed by regulation of the macroH2A2/TM4SF1 axis, the AKT/NF-kappaB pathway, and elevated MMP13 expression.
      Title: Breast cancer malignancy is governed by regulation of the macroH2A2/TM4SF1 axis, the AKT/NF-κB pathway, and elevated MMP13 expression.
    2. TM4SF1 upregulates MYH9 to activate the NOTCH pathway to promote cancer stemness and lenvatinib resistance in HCC.
      Title: TM4SF1 upregulates MYH9 to activate the NOTCH pathway to promote cancer stemness and lenvatinib resistance in HCC.
    3. Tm4sf1-marked Endothelial Subpopulation Is Dysregulated in Pulmonary Arterial Hypertension.
      Title: Tm4sf1-marked Endothelial Subpopulation Is Dysregulated in Pulmonary Arterial Hypertension.
    4. MicroRNA-501-3p targeting TM4SF1 facilitates tumor-related behaviors of gastric cancer cells via EMT signaling pathway.
      Title: MicroRNA-501-3p targeting TM4SF1 facilitates tumor-related behaviors of gastric cancer cells via EMT signaling pathway.
    5. TM4SF1 promotes glioma malignancy through multiple mechanisms.
      Title: TM4SF1 promotes glioma malignancy through multiple mechanisms.
    6. TM4SF1 promotes esophageal squamous cell carcinoma metastasis by interacting with integrin alpha6.
      Title: TM4SF1 promotes esophageal squamous cell carcinoma metastasis by interacting with integrin α6.
    7. Long Noncoding RNA BCYRN1 Recruits BATF to Promote TM4SF1 Upregulation and Enhance HCC Cell Proliferation and Invasion.
      Title: Long Noncoding RNA BCYRN1 Recruits BATF to Promote TM4SF1 Upregulation and Enhance HCC Cell Proliferation and Invasion.
    8. Hyper-expression and hypomethylation of TM4SF1 are associated with lymph node metastases in papillary thyroid carcinoma patients.
      Title: Hyper-expression and hypomethylation of TM4SF1 are associated with lymph node metastases in papillary thyroid carcinoma patients.
    9. HIF-1alpha-activated TM4SF1-AS1 promotes the proliferation, migration, and invasion of hepatocellular carcinoma cells by enhancing TM4SF1 expression.
      Title: HIF-1α-activated TM4SF1-AS1 promotes the proliferation, migration, and invasion of hepatocellular carcinoma cells by enhancing TM4SF1 expression.
    10. TM4SF1, a binding protein of DVL2 in hepatocellular carcinoma, positively regulates beta-catenin/TCF signalling.
      Title: TM4SF1, a binding protein of DVL2 in hepatocellular carcinoma, positively regulates beta-catenin/TCF signalling.
    Submit: New GeneRIF Correction See all GeneRIFs (41)

    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)

    HIV-1 interactions

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    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

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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 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

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    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)

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

      Status: REVIEWED

      Source sequence(s)
      AC073522, AC108751
      Consensus CDS
      CCDS93404.1
      UniProtKB/TrEMBL
      F8WF27
      Related
      ENSP00000419426.1, ENST00000493348.1

    2. NM_014220.3 → NP_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:1 → 194
      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_000003.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017006385.3 → XP_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_054346514.1 → XP_054202489.1  transmembrane 4 L6 family member 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P30408.1 GenPept UniProtKB/Swiss-Prot:P30408

    Gene LinkOut

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

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