TM4SF1

TM4SF1
Identifiers
Aliases	TM4SF1, H-L6, L6, M3S1, TAAL6, transmembrane 4 L six family member 1
External IDs	OMIM: 191155; MGI: 104678; HomoloGene: 7409; GeneCards: TM4SF1; OMA:TM4SF1 - orthologs
Gene location (Human) Chr. Chromosome 3 (human) Band 3q25.1 Start 149,369,022 bp End 149,377,692 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3|3 D Start 57,193,032 bp End 57,209,409 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in vena cava parietal pleura cartilage tissue visceral pleura germinal epithelium epithelium of lactiferous gland lactiferous duct pericardium islet of Langerhans lower lobe of lung Top expressed in tunica media of zone of aorta endothelial cell of lymphatic vessel right lung lobe carotid body atrioventricular valve semi-lunar valve aortic valve ascending aorta endocardial cushion left lung More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding molecular function Cellular component integral component of plasma membrane membrane integral component of membrane Biological process biological process blastocyst formation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4071 17112 Ensembl ENSG00000169908 ENSMUSG00000027800 UniProt P30408 Q64302 RefSeq (mRNA) NM_014220 NM_008536 NM_001355130 RefSeq (protein) NP_055035 NP_032562 NP_001342059 Location (UCSC) Chr 3: 149.37 – 149.38 Mb Chr 3: 57.19 – 57.21 Mb PubMed search
Wikidata
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Transmembrane 4 L6 family member 1 is a protein that in humans is encoded by the TM4SF1 gene.

Function

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.

Marker gene for alveolar epithelial progenitors

TM4SF1 has been identified as a marker of Wnt-responsive alveolar epithelial progenitor cells, and a marker of alveolar repair in injured regions of the lungs. It has also been found hypomethylated and upregulated in asthma, with potential prognostic value (AUROC: 0.769).

Further reading

• Berditchevski F (Dec 2001). "Complexes of tetraspanins with integrins: more than meets the eye". Journal of Cell Science. 114 (Pt 23): 4143–51. doi:10.1242/jcs.114.23.4143. PMID 11739647.
• Marken JS, Bajorath J, Edwards CP, Farr AG, Schieven GL, Hellström I, Hellström KE, Aruffo A (Mar 1994). "Membrane topology of the L6 antigen and identification of the protein epitope recognized by the L6 monoclonal antibody". The Journal of Biological Chemistry. 269 (10): 7397–401. doi:10.1016/S0021-9258(17)37298-8. PMID 7510285.
• Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA, Bieber FR, Morton CC (Sep 1994). "Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening". Genomics. 23 (1): 42–50. doi:10.1006/geno.1994.1457. PMID 7829101.
• Virtaneva KI, Emi N, Marken JS, Aruffo A, Jones C, Spurr NK, Schröder JP (1994). "Chromosomal localization of three human genes coding for A15, L6, and S5.7 (TAPA1): all members of the transmembrane 4 superfamily of proteins". Immunogenetics. 39 (5): 329–34. doi:10.1007/BF00189229. PMID 8168850. S2CID 22971645.
• Borrell-Pagès M, Fernández-Larrea J, Borroto A, Rojo F, Baselga J, Arribas J (Dec 2000). "The carboxy-terminal cysteine of the tetraspanin L6 antigen is required for its interaction with SITAC, a novel PDZ protein". Molecular Biology of the Cell. 11 (12): 4217–25. doi:10.1091/mbc.11.12.4217. PMC 15068. PMID 11102519.
• Storim J, Friedl P, Schaefer BM, Bechtel M, Wallich R, Kramer MD, Reinartz J (Jul 2001). "Molecular and functional characterization of the four-transmembrane molecule l6 in epidermal keratinocytes". Experimental Cell Research. 267 (2): 233–42. doi:10.1006/excr.2001.5250. PMID 11426942.
• Kaneko R, Tsuji N, Kamagata C, Endoh T, Nakamura M, Kobayashi D, Yagihashi A, Watanabe N (Dec 2001). "Amount of expression of the tumor-associated antigen L6 gene and transmembrane 4 superfamily member 5 gene in gastric cancers and gastric mucosa". The American Journal of Gastroenterology. 96 (12): 3457–8. doi:10.1111/j.1572-0241.2001.05355.x. PMID 11774983. S2CID 31864317.
• Kao YR, Shih JY, Wen WC, Ko YP, Chen BM, Chan YL, Chu YW, Yang PC, Wu CW, Roffler SR (Jul 2003). "Tumor-associated antigen L6 and the invasion of human lung cancer cells". Clinical Cancer Research. 9 (7): 2807–16. PMID 12855661.
• Chang YW, Chen SC, Cheng EC, Ko YP, Lin YC, Kao YR, Tsay YG, Yang PC, Wu CW, Roffler SR (Aug 2005). "CD13 (aminopeptidase N) can associate with tumor-associated antigen L6 and enhance the motility of human lung cancer cells". International Journal of Cancer. 116 (2): 243–52. doi:10.1002/ijc.21089. PMID 15812828. S2CID 26010618.
• Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (Sep 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
• Visintin A, Knowlton K, Tyminski E, Lin CI, Zheng X, Marquette K, Jain S, Tchistiakova L, Li D, O'Donnell CJ, Maderna A, Cao X, Dunn R, Snyder W, Abraham AK, Leal M, Shetty S, Barry A, Zawel L, Coyle AJ, Dvorak HF, Jaminet SC (Jun 2015). "Novel Anti-TM4SF1 Antibody Drug Conjugates with Activity against Tumor Cells and Tumor Vasculature". Molecular Cancer Therapeutics. 14 (8): 1868–76. doi:10.1158/1535-7163.MCT-15-0188. PMID 26089370.