TRAPPC10

TRAPPC10
Identifiers
Aliases	TRAPPC10 , EHOC-1, EHOC1, GT334, TMEM1, TRS130, TRS30, trafficking protein particle complex 10, trafficking protein particle complex subunit 10
External IDs	OMIM: 602103; MGI: 1336209; HomoloGene: 37751; GeneCards: TRAPPC10; OMA:TRAPPC10 - orthologs
Gene location (Human) Chr. Chromosome 21 (human) [1] Band 21q22.3 Start 44,012,309 bp [1] End 44,106,552 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bone marrow cells granulocyte rectum appendix monocyte stromal cell of endometrium epithelium of colon transverse colon sural nerve islet of Langerhans n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sodium ion transmembrane transporter activity protein binding Cellular component integral component of membrane cytosol Golgi apparatus TRAPPII protein complex Golgi membrane TRAPP complex Biological process early endosome to Golgi transport COPII vesicle coating intra-Golgi vesicle-mediated transport vesicle-mediated transport sodium ion transport sodium ion transmembrane transport protein complex oligomerization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7109 216131 Ensembl ENSG00000160218 ENSMUSG00000000374 UniProt P48553 Q3TLI0 RefSeq (mRNA) NM_001001723 NM_003274 NM_001351709 NM_001081055 RefSeq (protein) NP_003265 NP_001338638 NP_001074524 Location (UCSC) Chr 21: 44.01 – 44.11 Mb n/a PubMed search [2] [3]
Wikidata
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Trafficking protein particle complex subunit 10 is a protein that in humans is encoded by the TRAPPC10 gene. ^{[4] [5]}

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. ^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000160218 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. Yamakawa K, Mitchell S, Hubert R, Chen XN, Colbern S, Huo YK, Gadomski C, Kim UJ, Korenberg JR (Sep 1995). "Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3". Hum Mol Genet. 4 (4): 709–16. doi:10.1093/hmg/4.4.709. PMID   7633421.
5. "Entrez Gene: TMEM1 transmembrane protein 1".

Further reading

• 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. doi: 10.1101/gr.6.9.791 . 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. doi:10.1016/S0378-1119(97)00333-8. PMID   9370297.
• Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. Bibcode:2000Natur.405..311H. 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. Bibcode:2002Natur.415..141G. doi:10.1038/415141a. PMID   11805826. S2CID   4425555.
• 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . 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. Bibcode:2004PNAS..10112130B. doi: 10.1073/pnas.0404720101 . PMC   514446 . 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. PMC   528928 . PMID   15489334.