TM4SF1

Protein-coding gene in the species Homo sapiens
TM4SF1
Identifiers
AliasesTM4SF1, H-L6, L6, M3S1, TAAL6, transmembrane 4 L six family member 1
External IDsOMIM: 191155 MGI: 104678 HomoloGene: 7409 GeneCards: TM4SF1
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for TM4SF1
Genomic location for TM4SF1
Band3q25.1Start149,369,022 bp[1]
End149,377,692 bp[1]
Gene location (Mouse)
Chromosome 3 (mouse)
Chr.Chromosome 3 (mouse)[2]
Chromosome 3 (mouse)
Genomic location for TM4SF1
Genomic location for TM4SF1
Band3|3 DStart57,193,032 bp[2]
End57,209,409 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • vena cava

  • parietal pleura

  • visceral pleura

  • germinal epithelium

  • lactiferous duct

  • pericardium

  • islet of Langerhans

  • lower lobe of lung

  • gallbladder

  • Achilles tendon
Top expressed in
  • right lung lobe

  • carotid body

  • atrioventricular valve

  • semi-lunar valve

  • aortic valve

  • ascending aorta

  • endocardial cushion

  • left lung

  • ankle joint

  • atrium
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
SpeciesHumanMouse
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 MbChr 3: 57.19 – 57.21 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Transmembrane 4 L6 family member 1 is a protein that in humans is encoded by the TM4SF1 gene.[5][6]

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.[6]

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.[7] It has also been found hypomethylated and upregulated in asthma, with potential prognostic value (AUROC: 0.769).[8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000169908 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027800 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Marken JS, Schieven GL, Hellström I, Hellström KE, Aruffo A (Apr 1992). "Cloning and expression of the tumor-associated antigen L6". Proceedings of the National Academy of Sciences of the United States of America. 89 (8): 3503–7. Bibcode:1992PNAS...89.3503M. doi:10.1073/pnas.89.8.3503. PMC 48896. PMID 1565644.
  6. ^ a b "Entrez Gene: TM4SF1 transmembrane 4 L six family member 1".
  7. ^ Zacharias, William J.; Frank, David B.; Zepp, Jarod A.; Morley, Michael P.; Alkhaleel, Farrah A.; Kong, Jun; Zhou, Su; Cantu, Edward; Morrisey, Edward E. (2018-03-08). "Regeneration of the lung alveolus by an evolutionarily conserved epithelial progenitor". Nature. 555 (7695): 251–255. Bibcode:2018Natur.555..251Z. doi:10.1038/nature25786. ISSN 1476-4687. PMC 6020060. PMID 29489752.
  8. ^ Wang, Zongling; Wang, Lizhi; Dai, Lina; Wang, Yanan; Li, Erhong; An, Shuyuan; Wang, Fengliang; Liu, Dan; Pan, Wen (2022-12-22). "Identification of candidate aberrant differentially methylated/expressed genes in asthma". Allergy, Asthma, and Clinical Immunology. 18 (1): 108. doi:10.1186/s13223-022-00744-5. ISSN 1710-1484. PMC 9784293. PMID 36550577.

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.


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