Rab escort protein 1

Rab escort protein 1 (REP1) also known as rab proteins geranylgeranyltransferase component A 1 is an enzyme that in humans is encoded by the CHM gene.[5][6]

CHM
Identifiers
AliasesCHM, DXS540, GGTA, HSD-32, REP-1, TCD, Rab escort protein 1, CHM Rab escort protein
External IDsOMIM: 300390 MGI: 892979 HomoloGene: 334 GeneCards: CHM
Gene location (Human)
Chr.X chromosome (human)[1]
BandXq21.2Start85,861,180 bp[1]
End86,047,561 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

1121

12662

Ensembl

ENSG00000188419

ENSMUSG00000025531

UniProt

P24386

Q9QXG2

RefSeq (mRNA)

NM_018818
NM_001370788
NM_001370789
NM_001370790

RefSeq (protein)

n/a

Location (UCSC)Chr X: 85.86 – 86.05 MbChr X: 113.04 – 113.19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane.[6]

Interactions

CHM (gene) has been shown to interact with RAB1A,[7] RAB7A[8][9] and RAB3A.[7][10]

Clinical significance

Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina.[6]

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000188419 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000025531 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Molloy CM, van de Pol TJ, Brohet RM, Ropers HH, Cremers FP (May 1992). "Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2". Nucleic Acids Res. 20 (6): 1434. doi:10.1093/nar/20.6.1434. PMC 312214. PMID 1373238.
  6. "Entrez Gene: CHM choroideremia (Rab escort protein 1)".
  7. Cremers FP, Armstrong SA, Seabra MC, Brown MS, Goldstein JL (Jan 1994). "REP-2, a Rab escort protein encoded by the choroideremia-like gene". J. Biol. Chem. 269 (3): 2111–7. PMID 8294464.
  8. Rak A, Pylypenko O, Niculae A, Goody RS, Alexandrov K (Jan 2003). "Crystallization and preliminary X-ray diffraction analysis of monoprenylated Rab7 GTPase in complex with Rab escort protein 1". J. Struct. Biol. 141 (1): 93–5. doi:10.1016/S1047-8477(02)00634-2. PMID 12576024.
  9. Alexandrov K, Simon I, Iakovenko A, Holz B, Goody RS, Scheidig AJ (Apr 1998). "Moderate discrimination of REP-1 between Rab7 x GDP and Rab7 x GTP arises from a difference of an order of magnitude in dissociation rates". FEBS Lett. 425 (3): 460–4. doi:10.1016/S0014-5793(98)00290-7. PMID 9563513.
  10. Pereira-Leal JB, Strom M, Godfrey RF, Seabra MC (Jan 2003). "Structural determinants of Rab and Rab Escort Protein interaction: Rab family motifs define a conserved binding surface". Biochem. Biophys. Res. Commun. 301 (1): 92–7. doi:10.1016/S0006-291X(02)02963-7. PMID 12535645.

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.