TRAPPC2

Last updated
TRAPPC2
Protein TRAPPC2 PDB 1h3q.png
Identifiers
Aliases TRAPPC2 , MIP2A, SEDL, SEDT, TRAPPC2P1, TRS20, ZNF547L, hYP38334, trafficking protein particle complex 2, trafficking protein particle complex subunit 2
External IDs OMIM: 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

Contents

NP_001300651
NP_079708
NP_079595

Location (UCSC)n/a Chr X: 165.22 – 165.24 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/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

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

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

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

Interactions

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

References

  1. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000079317 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. 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. 1 2 3 4 "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. Bibcode:2003FEBSL.540...77F. doi: 10.1016/S0014-5793(03)00228-X . PMID   12681486. S2CID   8573651.

Further reading