TRAPPC2: Difference between revisions
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{{ | '''Trafficking protein particle complex subunit 2''' (TRAPPC2) also known as '''MBP-1-interacting protein 2A''' (MIP-2A) is a [[protein]] that in humans is encoded by the ''TRAPPC2'' [[gene]].<ref name="pmid14597397">{{cite journal |vauthors=Gecz J, Shaw MA, Bellon JR, de Barros Lopes M | title = Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not | journal = Gene | volume = 320 | issue = | pages = 137–44 |date=November 2003 | pmid = 14597397 | pmc = | doi =10.1016/S0378-1119(03)00819-9 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: TRAPPC2 trafficking protein particle complex 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6399| accessdate = }}</ref> A processed pseudogene of this gene is located on chromosome 19, and other pseuodogenes of it are found on chromosome 8 and the Y chromosome. Two transcript variants encoding the same protein have been found for this gene.<ref name="entrez"/> | ||
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== Function == | |||
Trafficking protein particle complex subunit 2 is thought to be part of a large multisubunit complex involved in the targeting and fusion of [[endoplasmic reticulum]]-to-[[Golgi apparatus|Golgi]] [[Vesicle (biology and chemistry)#Transport vesicles|transport vesicle]]s with their acceptor compartment. In addition, the encoded protein can bind [[alpha-enolase|MBP1]] and block its transcriptional repression capability.<ref name="entrez"/> | |||
== Genetic Location == | |||
}} | The TRAPPC2 gene is located on the [[X-chromosome]] at position 22 between base-pairs 13,712,241 to 13,734,634.<ref>{{cite web | title = TRAPPC2 gene at Genetics Home Reference| url = http://ghr.nlm.nih.gov/gene/TRAPPC2| accessdate = }}</ref> | ||
== Clinical significance == | |||
Mutations in this gene are a cause of X-linked spondyloepiphyseal dysplasia tarda (SEDT).<ref name="entrez"/> | |||
==Interactions== | |||
TRAPPC2 has been shown to [[Protein-protein interaction|interact]] with [[Alpha-enolase]]<ref name=pmid11134351>{{cite journal |last=Ghosh |first=A K |authorlink= |author2=Majumder M |author3=Steele R |author4=White R A |author5=Ray R B |date=January 2001 |title=A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1 |journal=Mol. Cell. Biol. |volume=21 |issue=2 |pages=655–62 |publisher= |location = UNITED STATES| issn = 0270-7306| pmid = 11134351 |doi = 10.1128/MCB.21.2.655-662.2001 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |pmc=86643 }}</ref> and [[CLIC1]].<ref name=pmid12681486>{{cite journal |last=Fan |first=Libin |authorlink= |author2=Yu Wei |author3=Zhu Xueliang |date=April 2003 |title=Interaction of Sedlin with chloride intracellular channel proteins |journal=FEBS Lett. |volume=540 |issue=1–3 |pages=77–80 |publisher= |location = Netherlands| issn = 0014-5793| pmid = 12681486 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |doi=10.1016/S0014-5793(03)00228-X }}</ref> | |||
==References== | ==References== | ||
{{ | {{Reflist}} | ||
==Further reading== | ==Further reading== | ||
{{ | {{Refbegin | 2}} | ||
*{{cite journal |vauthors=Shaw MA, Brunetti-Pierri N, Kádasi L, etal |title=Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4 |journal=Clin. Genet. |volume=64 |issue= 3 |pages= 235–42 |year= 2004 |pmid= 12919139 |doi=10.1034/j.1399-0004.2003.00132.x }} | |||
*{{cite journal |vauthors=Adams MD, Soares MB, Kerlavage AR, etal |title=Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library |journal=Nat. Genet. |volume=4 |issue= 4 |pages= 373–80 |year= 1993 |pmid= 8401585 |doi= 10.1038/ng0893-373 }} | |||
*{{cite journal | *{{cite journal |vauthors=Bernard LE, Chitayat D, Weksberg R, etal |title=Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia |journal=J. Med. Genet. |volume=33 |issue= 5 |pages= 432–4 |year= 1996 |pmid= 8733060 |doi=10.1136/jmg.33.5.432 | pmc=1050619 }} | ||
*{{cite journal | *{{cite journal |vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 }} | ||
*{{cite journal | *{{cite journal |vauthors=Gedeon AK, Colley A, Jamieson R, etal |title=Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda |journal=Nat. Genet. |volume=22 |issue= 4 |pages= 400–4 |year= 1999 |pmid= 10431248 |doi= 10.1038/11976 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Gécz J, Hillman MA, Gedeon AK, etal |title=Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda |journal=Genomics |volume=69 |issue= 2 |pages= 242–51 |year= 2001 |pmid= 11031107 |doi= 10.1006/geno.2000.6326 }} | ||
*{{cite journal | *{{cite journal |vauthors=Ghosh AK, Majumder M, Steele R, etal |title=A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1 |journal=Mol. Cell. Biol. |volume=21 |issue= 2 |pages= 655–62 |year= 2001 |pmid= 11134351 |doi= 10.1128/MCB.21.2.655-662.2001 | pmc=86643 }} | ||
*{{cite journal | *{{cite journal |vauthors=Gedeon AK, Tiller GE, Le Merrer M, etal |title=The molecular basis of X-linked spondyloepiphyseal dysplasia tarda |journal=Am. J. Hum. Genet. |volume=68 |issue= 6 |pages= 1386–97 |year= 2001 |pmid= 11349230 |doi=10.1086/320592 | pmc=1226125 }} | ||
*{{cite journal | *{{cite journal |vauthors=Grunebaum E, Arpaia E, MacKenzie JJ, etal |title=A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree |journal=J. Med. Genet. |volume=38 |issue= 6 |pages= 409–11 |year= 2001 |pmid= 11424925 |doi=10.1136/jmg.38.6.409 | pmc=1734897 }} | ||
*{{cite journal | *{{cite journal |vauthors=Mumm S, Zhang X, Vacca M, etal |title=The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site |journal=Gene |volume=273 |issue= 2 |pages= 285–93 |year= 2001 |pmid= 11595175 |doi=10.1016/S0378-1119(01)00571-6 }} | ||
*{{cite journal | *{{cite journal |vauthors=Gavin AC, Bösche M, Krause R, etal |title=Functional organization of the yeast proteome by systematic analysis of protein complexes |journal=Nature |volume=415 |issue= 6868 |pages= 141–7 |year= 2002 |pmid= 11805826 |doi= 10.1038/415141a }} | ||
*{{cite journal | *{{cite journal |vauthors=Takahashi T, Takahashi I, Tsuchida S, etal |title=An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda |journal=Clin. Genet. |volume=61 |issue= 4 |pages= 319–20 |year= 2003 |pmid= 12030902 |doi=10.1034/j.1399-0004.2002.610416.x }} | ||
*{{cite journal | *{{cite journal |vauthors=Fiedler J, Bittner M, Puhl W, Brenner RE |title=Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men |journal=Clin. Genet. |volume=62 |issue= 1 |pages= 94–5 |year= 2003 |pmid= 12123495 |doi=10.1034/j.1399-0004.2002.620114.x }} | ||
*{{cite journal | *{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }} | ||
*{{cite journal | | *{{cite journal |vauthors=Gao C, Luo Q, Wang HL, etal |title=[Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda] |journal=Zhonghua Yi Xue Yi Chuan Xue Za Zhi |volume=20 |issue= 1 |pages= 15–8 |year= 2003 |pmid= 12579492 |doi= }} | ||
*{{cite journal | *{{cite journal |vauthors=Xiao C, Zhang S, Wang J, etal |title=A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family |journal=Mutat. Res. |volume=525 |issue= 1–2 |pages= 61–5 |year= 2003 |pmid= 12650905 |doi= 10.1016/s0027-5107(02)00315-9}} | ||
*{{cite journal | *{{cite journal |vauthors=Fan L, Yu W, Zhu X |title=Interaction of Sedlin with chloride intracellular channel proteins |journal=FEBS Lett. |volume=540 |issue= 1–3 |pages= 77–80 |year= 2003 |pmid= 12681486 |doi=10.1016/S0014-5793(03)00228-X }} | ||
*{{cite journal | *{{cite journal |vauthors=Savarirayan R, Thompson E, Gécz J |title=Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400) |journal=Eur. J. Hum. Genet. |volume=11 |issue= 9 |pages= 639–42 |year= 2004 |pmid= 12939648 |doi= 10.1038/sj.ejhg.5201025 }} | ||
*{{cite journal | | {{Refend}} | ||
*{{cite journal | | |||
==External links== | |||
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sedt GeneReviews/NIH/NCBI/UW entry on X-Linked Spondyloepiphyseal Dysplasia Tarda] | |||
* [https://www.ncbi.nlm.nih.gov/omim/300202,313400,300202,313400 OMIM entries on X-Linked Spondyloepiphyseal Dysplasia Tarda] | |||
{{PDB Gallery|geneid=6399}} | |||
{{ | {{Gene-X-stub}} | ||
Latest revision as of 12:14, 15 September 2017
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External IDs | GeneCards: [1] | ||||||
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Species | Human | Mouse | |||||
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RefSeq (mRNA) |
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Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
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Trafficking protein particle complex subunit 2 (TRAPPC2) also known as MBP-1-interacting protein 2A (MIP-2A) is a protein that in humans is encoded by the TRAPPC2 gene.[1][2] A processed pseudogene of this gene is located on chromosome 19, and other pseuodogenes of it are found on chromosome 8 and the Y chromosome. Two transcript variants encoding the same protein have been found for this gene.[2]
Function
Trafficking protein particle complex subunit 2 is thought to be part of a large multisubunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind MBP1 and block its transcriptional repression capability.[2]
Genetic Location
The TRAPPC2 gene is located on the X-chromosome at position 22 between base-pairs 13,712,241 to 13,734,634.[3]
Clinical significance
Mutations in this gene are a cause of X-linked spondyloepiphyseal dysplasia tarda (SEDT).[2]
Interactions
TRAPPC2 has been shown to interact with Alpha-enolase[4] and CLIC1.[5]
References
- ↑ Gecz J, Shaw MA, Bellon JR, de Barros Lopes M (November 2003). "Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not". Gene. 320: 137–44. doi:10.1016/S0378-1119(03)00819-9. PMID 14597397.
- ↑ 2.0 2.1 2.2 2.3 "Entrez Gene: TRAPPC2 trafficking protein particle complex 2".
- ↑ "TRAPPC2 gene at Genetics Home Reference".
- ↑ Ghosh, A K; Majumder M; Steele R; White R A; Ray R B (January 2001). "A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1". Mol. Cell. Biol. UNITED STATES. 21 (2): 655–62. doi:10.1128/MCB.21.2.655-662.2001. ISSN 0270-7306. PMC 86643. PMID 11134351.
- ↑ Fan, Libin; Yu Wei; Zhu Xueliang (April 2003). "Interaction of Sedlin with chloride intracellular channel proteins". FEBS Lett. Netherlands. 540 (1–3): 77–80. doi:10.1016/S0014-5793(03)00228-X. ISSN 0014-5793. PMID 12681486.
Further reading
- Shaw MA, Brunetti-Pierri N, Kádasi L, et al. (2004). "Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4". Clin. Genet. 64 (3): 235–42. doi:10.1034/j.1399-0004.2003.00132.x. PMID 12919139.
- Adams MD, Soares MB, Kerlavage AR, et al. (1993). "Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library". Nat. Genet. 4 (4): 373–80. doi:10.1038/ng0893-373. PMID 8401585.
- Bernard LE, Chitayat D, Weksberg R, et al. (1996). "Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia". J. Med. Genet. 33 (5): 432–4. doi:10.1136/jmg.33.5.432. PMC 1050619. PMID 8733060.
- 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.
- Gedeon AK, Colley A, Jamieson R, et al. (1999). "Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda". Nat. Genet. 22 (4): 400–4. doi:10.1038/11976. PMID 10431248.
- Gécz J, Hillman MA, Gedeon AK, et al. (2001). "Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda". Genomics. 69 (2): 242–51. doi:10.1006/geno.2000.6326. PMID 11031107.
- Ghosh AK, Majumder M, Steele R, et al. (2001). "A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1". Mol. Cell. Biol. 21 (2): 655–62. doi:10.1128/MCB.21.2.655-662.2001. PMC 86643. PMID 11134351.
- Gedeon AK, Tiller GE, Le Merrer M, et al. (2001). "The molecular basis of X-linked spondyloepiphyseal dysplasia tarda". Am. J. Hum. Genet. 68 (6): 1386–97. doi:10.1086/320592. PMC 1226125. PMID 11349230.
- Grunebaum E, Arpaia E, MacKenzie JJ, et al. (2001). "A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree". J. Med. Genet. 38 (6): 409–11. doi:10.1136/jmg.38.6.409. PMC 1734897. PMID 11424925.
- Mumm S, Zhang X, Vacca M, et al. (2001). "The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site". Gene. 273 (2): 285–93. doi:10.1016/S0378-1119(01)00571-6. PMID 11595175.
- 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.
- Takahashi T, Takahashi I, Tsuchida S, et al. (2003). "An SEDL gene mutation in a Japanese kindred of X-linked spondyloepiphyseal dysplasia tarda". Clin. Genet. 61 (4): 319–20. doi:10.1034/j.1399-0004.2002.610416.x. PMID 12030902.
- Fiedler J, Bittner M, Puhl W, Brenner RE (2003). "Mutations in the X-linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men". Clin. Genet. 62 (1): 94–5. doi:10.1034/j.1399-0004.2002.620114.x. PMID 12123495.
- 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. PMC 139241. PMID 12477932.
- Gao C, Luo Q, Wang HL, et al. (2003). "[Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]". Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 20 (1): 15–8. PMID 12579492.
- Xiao C, Zhang S, Wang J, et al. (2003). "A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family". Mutat. Res. 525 (1–2): 61–5. doi:10.1016/s0027-5107(02)00315-9. PMID 12650905.
- Fan L, Yu W, Zhu X (2003). "Interaction of Sedlin with chloride intracellular channel proteins". FEBS Lett. 540 (1–3): 77–80. doi:10.1016/S0014-5793(03)00228-X. PMID 12681486.
- Savarirayan R, Thompson E, Gécz J (2004). "Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)". Eur. J. Hum. Genet. 11 (9): 639–42. doi:10.1038/sj.ejhg.5201025. PMID 12939648.
External links
- GeneReviews/NIH/NCBI/UW entry on X-Linked Spondyloepiphyseal Dysplasia Tarda
- OMIM entries on X-Linked Spondyloepiphyseal Dysplasia Tarda
This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it. |