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 enc... See more...

Aliases for TM4SF1 Gene

Aliases for TM4SF1 Gene

  • Transmembrane 4 L Six Family Member 1 2 3 5
  • Transmembrane 4 Superfamily Member 1 2 3
  • Transmembrane 4 L6 Family Member 1 3 4
  • Tumor-Associated Antigen L6 3 4
  • TAAL6 3 4
  • M3S1 3 4
  • Membrane Component, Chromosome 3, Surface Marker 1 3
  • Membrane Component Chromosome 3 Surface Marker 1 4
  • H-L6 3
  • L6 3

External Ids for TM4SF1 Gene

Previous HGNC Symbols for TM4SF1 Gene

  • M3S1

Previous GeneCards Identifiers for TM4SF1 Gene

  • GC03U990049
  • GC03M149971
  • GC03M150368
  • GC03M150407
  • GC03M150569
  • GC03M149086
  • GC03M146458

Summaries for TM4SF1 Gene

Entrez Gene Summary for TM4SF1 Gene

  • 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]

GeneCards Summary for TM4SF1 Gene

TM4SF1 (Transmembrane 4 L Six Family Member 1) is a Protein Coding gene. Diseases associated with TM4SF1 include Cardiomyopathy, Familial Hypertrophic, 1. An important paralog of this gene is TM4SF4.

Gene Wiki entry for TM4SF1 Gene

Additional gene information for TM4SF1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TM4SF1 Gene

Genomics for TM4SF1 Gene

GeneHancer (GH) Regulatory Elements for TM4SF1 Gene

Promoters and enhancers for TM4SF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TM4SF1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TM4SF1

Top Transcription factor binding sites by QIAGEN in the TM4SF1 gene promoter:
  • c-Jun
  • c-Myb
  • CBF(2)
  • CBF-A
  • CBF-B
  • FOXO4
  • HNF-1
  • HNF-1A
  • NF-1
  • SRY

Genomic Locations for TM4SF1 Gene

Genomic Locations for TM4SF1 Gene
chr3:149,369,018-149,377,860
(GRCh38/hg38)
Size:
8,843 bases
Orientation:
Minus strand
chr3:149,086,805-149,095,652
(GRCh37/hg19)
Size:
8,848 bases
Orientation:
Minus strand

Genomic View for TM4SF1 Gene

Genes around TM4SF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TM4SF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TM4SF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TM4SF1 Gene

Proteins for TM4SF1 Gene

  • Protein details for TM4SF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30408-T4S1_HUMAN
    Recommended name:
    Transmembrane 4 L6 family member 1
    Protein Accession:
    P30408
    Secondary Accessions:
    • Q6IB51

    Protein attributes for TM4SF1 Gene

    Size:
    202 amino acids
    Molecular mass:
    21632 Da
    Quaternary structure:
    • Present in high molecular weight complexes in tumor cells. Interacts with SDCBP2 (PubMed:11102519).

neXtProt entry for TM4SF1 Gene

Post-translational modifications for TM4SF1 Gene

  • Glycosylation at Asn129 and Asn159
  • Modification sites at PhosphoSitePlus

Other Protein References for TM4SF1 Gene

No data available for DME Specific Peptides for TM4SF1 Gene

Domains & Families for TM4SF1 Gene

Gene Families for TM4SF1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TM4SF1 Gene

Blocks:
  • L6 membrane
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TM4SF1 Gene

GenScript: Design optimal peptide antigens:
  • Tumor-associated antigen L6 (T4S1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P30408

UniProtKB/Swiss-Prot:

T4S1_HUMAN :
  • Belongs to the L6 tetraspanin family.
Family:
  • Belongs to the L6 tetraspanin family.
genes like me logo Genes that share domains with TM4SF1: view

Function for TM4SF1 Gene

Molecular function for TM4SF1 Gene

GENATLAS Biochemistry:
transmembrane 4 superfamily member 1,membrane component chromosome 3,cell surface marker 1

Phenotypes From GWAS Catalog for TM4SF1 Gene

Gene Ontology (GO) - Molecular Function for TM4SF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 11102519
genes like me logo Genes that share ontologies with TM4SF1: view
genes like me logo Genes that share phenotypes with TM4SF1: view

Animal Model Products

CRISPR Products

miRNA for TM4SF1 Gene

miRTarBase miRNAs that target TM4SF1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TM4SF1 Gene

Localization for TM4SF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TM4SF1 Gene

Membrane; Multi-pass membrane protein. Note=Colocalizes with SDCBP2 in the apical region of the cell (PubMed:11102519). {ECO:0000269 PubMed:11102519}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TM4SF1 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for TM4SF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IDA 7510285
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TM4SF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TM4SF1 Gene

Pathways & Interactions for TM4SF1 Gene

PathCards logo

SuperPathways for TM4SF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TM4SF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001825 blastocyst formation IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with TM4SF1: view

No data available for Pathways by source and SIGNOR curated interactions for TM4SF1 Gene

Drugs & Compounds for TM4SF1 Gene

No Compound Related Data Available

Transcripts for TM4SF1 Gene

mRNA/cDNA for TM4SF1 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TM4SF1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b · 5c
SP1: -
SP2: - - -
SP3: - - -
SP4: -
SP5:

Relevant External Links for TM4SF1 Gene

GeneLoc Exon Structure for
TM4SF1

Expression for TM4SF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TM4SF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TM4SF1 Gene

This gene is overexpressed in Minor Salivary Gland (x4.3).

Protein differential expression in normal tissues from HIPED for TM4SF1 Gene

This gene is overexpressed in Nasal epithelium (23.2) and Lung (23.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TM4SF1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TM4SF1

SOURCE GeneReport for Unigene cluster for TM4SF1 Gene:

Hs.351316

mRNA Expression by UniProt/SwissProt for TM4SF1 Gene:

P30408-T4S1_HUMAN
Tissue specificity: Highly expressed in lung, breast, colon and ovarian carcinomas. It is also present on some normal cells, endothelial cells in particular.

Evidence on tissue expression from TISSUES for TM4SF1 Gene

  • Lung(4.9)
  • Pancreas(4.4)
  • Bone marrow(4)
  • Liver(4)
  • Nervous system(3.9)
  • Stomach(3.1)
  • Intestine(3)
  • Skin(2.7)
  • Kidney(2.5)
  • Heart(2.2)
  • Gall bladder(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with TM4SF1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TM4SF1 Gene

Orthologs for TM4SF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TM4SF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TM4SF1 31 30
  • 98.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TM4SF1 31
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TM4SF1 31 30
  • 85.48 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TM4SF1 31
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tm4sf1 30
  • 83.33 (n)
mouse
(Mus musculus)
Mammalia Tm4sf1 17 31 30
  • 82.84 (n)
oppossum
(Monodelphis domestica)
Mammalia TM4SF1 31
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves TM4SF1 31 30
  • 63.2 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 40 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tm4sf1 30
  • 68.16 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18717 30
zebrafish
(Danio rerio)
Actinopterygii tm4sf18 31
  • 48 (a)
OneToMany
Species where no ortholog for TM4SF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TM4SF1 Gene

ENSEMBL:
Gene Tree for TM4SF1 (if available)
TreeFam:
Gene Tree for TM4SF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TM4SF1: view image

Paralogs for TM4SF1 Gene

Paralogs for TM4SF1 Gene

(4) SIMAP similar genes for TM4SF1 Gene using alignment to 5 proteins:

  • T4S1_HUMAN
  • C9J611_HUMAN
  • F8WBG6_HUMAN
  • F8WF27_HUMAN
  • Q8NE91_HUMAN
genes like me logo Genes that share paralogs with TM4SF1: view

Variants for TM4SF1 Gene

Additional dbSNP identifiers (rs#s) for TM4SF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TM4SF1 Gene

Variant ID Type Subtype PubMed ID
nsv998572 CNV loss 25217958

Variation tolerance for TM4SF1 Gene

Residual Variation Intolerance Score: 25.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.66; 14.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TM4SF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TM4SF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TM4SF1 Gene

Disorders for TM4SF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TM4SF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cardiomyopathy, familial hypertrophic, 1
  • fhc
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TM4SF1

genes like me logo Genes that share disorders with TM4SF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TM4SF1 Gene

Publications for TM4SF1 Gene

  1. Cloning and expression of the tumor-associated antigen L6. (PMID: 1565644) Marken JS … Aruffo A (Proceedings of the National Academy of Sciences of the United States of America 1992) 2 3 4 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. The carboxy-terminal cysteine of the tetraspanin L6 antigen is required for its interaction with SITAC, a novel PDZ protein. (PMID: 11102519) Borrell-Pagès M … Arribas J (Molecular biology of the cell 2000) 3 4 54
  4. Membrane topology of the L6 antigen and identification of the protein epitope recognized by the L6 monoclonal antibody. (PMID: 7510285) Marken JS … Aruffo A (The Journal of biological chemistry 1994) 3 4 54
  5. Chromosomal localization of three human genes coding for A15, L6, and S5.7 (TAPA1): all members of the transmembrane 4 superfamily of proteins. (PMID: 8168850) Virtaneva KI … Schröder JP (Immunogenetics 1994) 3 23 54

Products for TM4SF1 Gene

  • Signalway ELISA kits for TM4SF1
  • Signalway Proteins for TM4SF1

Sources for TM4SF1 Gene