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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
  • 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
  • Transmembrane 4 L6 Family Member 1 3
  • 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. 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 , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TM4SF1 Gene

Genomics for TM4SF1 Gene

GeneHancer (GH) Regulatory Elements for TM4SF1 Gene

Promoters and enhancers for TM4SF1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J149365 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 661.7 +5.3 5342 14.3 PKNOX1 FOXA2 ARID4B NEUROD1 SIN3A ZBTB7B YY1 SLC30A9 ZNF207 FOS TM4SF1 HPS3 TM4SF18 TM4SF1-AS1 RPS25P5
GH03J149338 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 17.4 +36.9 36890 5.6 ELF3 FOXA2 SIN3A RAD21 ETS1 RFX5 ZNF614 ELK1 ZNF366 RCOR1 TM4SF1 TM4SF1-AS1 HPS3 TM4SF18 GC03M149358
GH03J149352 Enhancer 1.3 Ensembl ENCODE dbSUPER 17.5 +25.2 25216 1.1 HDGF ELF3 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZNF48 RAD21 YY1 TM4SF1 TM4SF1-AS1 GC03M149358 TM4SF18
GH03J149355 Enhancer 1.1 ENCODE dbSUPER 16.9 +21.4 21413 2.4 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 SLC30A9 ATF7 NFKBIZ ZHX2 RPS25P5 GC03M149358 TM4SF1 TM4SF1-AS1 TM4SF18
GH03J149381 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -8.8 -8797 10.9 PKNOX1 CLOCK FOXA2 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B ENSG00000243885 TM4SF4 TM4SF18 TM4SF1 COMMD2 TM4SF1-AS1 LOC105374151
- 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

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

Genomic Locations for TM4SF1 Gene

Genomic Locations for TM4SF1 Gene
8,848 bases
Minus strand
8,848 bases
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:
    Recommended name:
    Transmembrane 4 L6 family member 1
    Protein Accession:
    Secondary Accessions:
    • Q6IB51

    Protein attributes for TM4SF1 Gene

    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 isoforms=159 and isoforms=129
  • 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


Suggested Antigen Peptide Sequences for TM4SF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the L6 tetraspanin 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

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

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

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,IBA --
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

SuperPathways for TM4SF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TM4SF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Unigene Clusters for TM4SF1 Gene

Transmembrane 4 L six family member 1:
Representative Sequences:

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: -

Relevant External Links for TM4SF1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TM4SF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of TM4SF1 Gene:


SOURCE GeneReport for Unigene cluster for TM4SF1 Gene:


mRNA Expression by UniProt/SwissProt for TM4SF1 Gene:

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
(Pan troglodytes)
Mammalia TM4SF1 34 33
  • 98.51 (n)
(Canis familiaris)
Mammalia TM4SF1 34
  • 90 (a)
(Bos Taurus)
Mammalia TM4SF1 34 33
  • 85.48 (n)
(Ornithorhynchus anatinus)
Mammalia TM4SF1 34
  • 84 (a)
(Rattus norvegicus)
Mammalia Tm4sf1 33
  • 83.33 (n)
(Mus musculus)
Mammalia Tm4sf1 16 34 33
  • 82.84 (n)
(Monodelphis domestica)
Mammalia TM4SF1 34
  • 43 (a)
(Gallus gallus)
Aves TM4SF1 34 33
  • 63.2 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 40 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tm4sf1 33
  • 68.16 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18717 33
(Danio rerio)
Actinopterygii tm4sf18 34
  • 48 (a)
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

Gene Tree for TM4SF1 (if available)
Gene Tree for TM4SF1 (if available)
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
  • F8WF27_HUMAN
  • Q8NE91_HUMAN
genes like me logo Genes that share paralogs with TM4SF1: view

Variants for TM4SF1 Gene

Sequence variations from dbSNP and Humsavar for TM4SF1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000322759 -- 149,379,041(-) C/T upstream_transcript_variant
rs1000382146 -- 149,372,587(-) G/A intron_variant
rs1000544177 -- 149,375,779(-) A/G intron_variant
rs1000816347 -- 149,372,945(-) C/G intron_variant
rs1001131541 -- 149,369,539(-) T/A/C 3_prime_UTR_variant, non_coding_transcript_variant

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TM4SF1 Gene

Disorders for TM4SF1 Gene

Additional Disease Information for TM4SF1

No disorders were found for TM4SF1 Gene.

No data available for MalaCards , 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 58
  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 58
  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 58
  4. 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 22 58
  5. 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 58

Products for TM4SF1 Gene

Sources for TM4SF1 Gene

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