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TRAPPC2

From Wikipedia, the free encyclopedia
TRAPPC2
Identifiers
AliasesTRAPPC2, MIP2A, SEDL, SEDT, TRAPPC2P1, TRS20, ZNF547L, hYP38334, trafficking protein particle complex 2, trafficking protein particle complex subunit 2
External IDsOMIM: 300202; MGI: 1913476; HomoloGene: 5436; GeneCards: TRAPPC2; OMA:TRAPPC2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001011658
NM_001128835
NM_014563

NM_025432
NM_001313722

RefSeq (protein)

NP_001011658
NP_001122307
NP_055378
NP_001011658.1
NP_055378.1

NP_001300651
NP_079708
NP_079595

Location (UCSC)n/aChr X: 165.22 – 165.24 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

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.[4][5] 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.[5]

Function

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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.[5]

Genetic Location

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The TRAPPC2 gene is located on the X-chromosome at position 22 between base-pairs 13,712,241 to 13,734,634.[6]

Clinical significance

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Mutations in this gene are a cause of X-linked spondyloepiphyseal dysplasia tarda (SEDT).[5]

Interactions

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TRAPPC2 has been shown to interact with Alpha-enolase[7] and CLIC1.[8]

References

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  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000079317Ensembl, 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. ^ Gécz 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.
  5. ^ a b c d "Entrez Gene: TRAPPC2 trafficking protein particle complex 2".
  6. ^ "TRAPPC2 gene at Genetics Home Reference".
  7. ^ Ghosh AK, Majumder M, Steele R, White RA, Ray RB (January 2001). "A novel 16-kilodalton cellular protein physically interacts with and antagonizes the functional activity of c-myc promoter-binding protein 1". Molecular and Cellular Biology. 21 (2): 655–62. doi:10.1128/MCB.21.2.655-662.2001. PMC 86643. PMID 11134351.
  8. ^ Fan L, Yu W, Zhu X (April 2003). "Interaction of Sedlin with chloride intracellular channel proteins". FEBS Letters. 540 (1–3): 77–80. doi:10.1016/S0014-5793(03)00228-X. PMID 12681486. S2CID 8573651.

Further reading

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