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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

TRAPPC10  -  trafficking protein particle complex 10

Homo sapiens

Synonyms: EHOC-1, EHOC1, Epilepsy holoprosencephaly candidate 1 protein, GT334, Protein GT334, ...
 
 
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Disease relevance of TMEM1

  • We have isolated and characterized a novel gene defined by three overlapping but distinct cDNAs of 5, 3, and 3 kb in size all named EHOC-1 (Epilepsy, HOloprosencephaly Candidate-1) [1].
  • The leucine zipper-, EF-hand-containing transmembrane protein 1 (LETM1) has recently been cloned in an attempt to identify genes deleted in Wolf-Hirschhorn syndrome (WHS), a microdeletion syndrome characterized by severe growth and mental retardation, hypotonia, seizures, and typical facial dysmorphic features [2].
 

High impact information on TMEM1

  • Furthermore, the increased expression of IFN-inducible genes, BAFF and IFN-induced transmembrane protein 1, was also demonstrated in ocular epithelial cells by quantitative RT-PCR [3].
  • Most eQTLs were in trans, with the best result (P=7.46 x 10(-8)) obtained for TMEM1 on chromosome 12q24.33 [4].
  • This gene (EHOC-1) is a good candidate for APECED, and particularly for EPM1 because of the location, size, structure and homologies [1].
  • Genomic sequencing revealed that the human PWP2 gene consists of 21 exons spanning approximately 24 kb and locates just between the two genes EHOC-1 and KNP-I and distal to a NotI site of LJ104 (D21S1460) on chromosome 21q22 [5].
  • GT334 is split into 23 exons, and spans an estimated 95 kb of genomic DNA [6].
 

Biological context of TMEM1

 

Other interactions of TMEM1

 

Analytical, diagnostic and therapeutic context of TMEM1

References

  1. Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3. Yamakawa, K., Mitchell, S., Hubert, R., Chen, X.N., Colbern, S., Huo, Y.K., Gadomski, C., Kim, U.J., Korenberg, J.R. Hum. Mol. Genet. (1995) [Pubmed]
  2. LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. Schlickum, S., Moghekar, A., Simpson, J.C., Steglich, C., O'Brien, R.J., Winterpacht, A., Endele, S.U. Genomics (2004) [Pubmed]
  3. Activation of IFN pathways and plasmacytoid dendritic cell recruitment in target organs of primary Sjögren's syndrome. Gottenberg, J.E., Cagnard, N., Lucchesi, C., Letourneur, F., Mistou, S., Lazure, T., Jacques, S., Ba, N., Ittah, M., Lepajolec, C., Labetoulle, M., Ardizzone, M., Sibilia, J., Fournier, C., Chiocchia, G., Mariette, X. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  4. Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes. Deutsch, S., Lyle, R., Dermitzakis, E.T., Attar, H., Subrahmanyan, L., Gehrig, C., Parand, L., Gagnebin, M., Rougemont, J., Jongeneel, C.V., Antonarakis, S.E. Hum. Mol. Genet. (2005) [Pubmed]
  5. Genomic organization and complete nucleotide sequence of the human PWP2 gene on chromosome 21. Nagamine, K., Kudoh, J., Minoshima, S., Kawasaki, K., Asakawa, S., Ito, F., Shimizu, N. Genomics (1997) [Pubmed]
  6. Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3. Lafrenière, R.G., Kibar, Z., Rochefort, D.L., Han, F.Y., Fon, E.A., Dubé, M.P., Kang, X., Baird, S., Korneluk, R.G., Rommens, J.M., Rouleau, G.A. Gene (1997) [Pubmed]
  7. Genomic organization and complete nucleotide sequence of the TMEM1 gene on human chromosome 21q22.3. Nagamine, K., Kudoh, J., Kawasaki, K., Minoshima, S., Asakawa, S., Ito, F., Shimizu, N. Biochem. Biophys. Res. Commun. (1997) [Pubmed]
  8. A periodic tryptophan protein 2 gene homologue (PWP2H) in the candidate region of progressive myoclonus epilepsy on 21q22.3. Yamakawa, K., Gao, D.Q., Korenberg, J.R. Cytogenet. Cell Genet. (1996) [Pubmed]
  9. Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3. Lalioti, M.D., Chen, H., Rossier, C., Shafaatian, R., Reid, J.D., Antonarakis, S.E. Genomics (1996) [Pubmed]
  10. Assignment of the human integral transmembrane protein 1 gene (ITM1) to human chromosome band 11q23.3 by in situ hybridization and YAC mapping. Van Hul, W., Hong, G., Wauters, J., Van Hul, E., Nowak, N., Shows, T.B., Willems, P.J., Merregaert, J. Cytogenet. Cell Genet. (1996) [Pubmed]
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