TMEM1

From Wikipedia, the free encyclopedia

Transmembrane protein 1

Identifiers

TMEM1; EHOC-1; EHOC1; GT334; MGC126777

External IDs

OMIM: 602103 MGI: 1336209 HomoloGene: 37751

Gene ontology
Molecular Function:	• aminoacyl-tRNA ligase activity • ATP binding • sodium ion transmembrane transporter activity
Cellular Component:	• integral to membrane
Biological Process:	• tRNA aminoacylation for protein translation • transport • sodium ion transport • ER to Golgi vesicle-mediated transport

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

Refseq

NM_001001723 (mRNA)
NP_001001723 (protein)

XM_125775 (mRNA)
XP_125775 (protein)

Location

Chr 21: 44.26 - 44.35 Mb

Chr 10: 77.59 - 77.65 Mb

Pubmed search

[1]

[2]

Transmembrane protein 1, also known as TMEM1, is a human gene.^[1]

The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. Two transcript variants encoding different isoforms have been found for this gene.^[1]

[edit] References

^ ^a ^b Entrez Gene: TMEM1 transmembrane protein 1.

[edit] Further reading

Yamakawa K, Mitchell S, Hubert R, et al. (1995). "Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3.". Hum. Mol. Genet. 4 (4): 709–16. PMID 7633421.
Nagamine K, Kudoh J, Minoshima S, et al. (1996). "Isolation of cDNA for a novel human protein KNP-I that is homologous to the E. coli SCRP-27A protein from the autoimmune polyglandular disease type I (APECED) region of chromosome 21q22.3.". Biochem. Biophys. Res. Commun. 225 (2): 608–16. doi:10.1006/bbrc.1996.1218. PMID 8753807.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548.
Nagamine K, Kudoh J, Kawasaki K, et al. (1997). "Genomic organization and complete nucleotide sequence of the TMEM1 gene on human chromosome 21q22.3.". Biochem. Biophys. Res. Commun. 235 (1): 185–90. doi:10.1006/bbrc.1997.6758. PMID 9196060.
Nagamine K, Kudoh J, Minoshima S, et al. (1997). "Genomic organization and complete nucleotide sequence of the human PWP2 gene on chromosome 21.". Genomics 42 (3): 528–31. doi:10.1006/geno.1997.4761. PMID 9205129.
Lafrenière RG, Kibar Z, Rochefort DL, et al. (1997). "Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3.". Gene 198 (1-2): 313–21. PMID 9370297.
Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21.". Nature 405 (6784): 311–9. doi:10.1038/35012518. PMID 10830953.
Gavin AC, Bösche M, Krause R, et al. (2002). "Functional organization of the yeast proteome by systematic analysis of protein complexes.". Nature 415 (6868): 141–7. doi:10.1038/415141a. PMID 11805826.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins.". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMID 15302935.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.