CHM (gene)

From Wikipedia, the free encyclopedia

Choroideremia (Rab escort protein 1)

Identifiers

CHM; DXS540; FLJ38564; GGTA; HSD-32; MGC102710; REP-1; TCD

External IDs

OMIM: 300390 MGI: 892979 HomoloGene: 334

Gene ontology
Molecular Function:	• Rab-protein geranylgeranyltransferase activity • Rab escort protein activity • GTPase activator activity
Cellular Component:	• Rab-protein geranylgeranyltransferase complex
Biological Process:	• blood vessel development • intracellular protein transport • visual perception • protein amino acid geranylgeranylation • regulation of GTPase activity • response to stimulus

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_000390 (mRNA)
NP_000381 (protein)

XM_991490 (mRNA)
XP_996584 (protein)

Location

Chr X: 85 - 85.19 Mb

n/a

Pubmed search

[1]

[2]

Choroideremia (Rab escort protein 1), also known as CHM, is a human gene.^[1]

The choroideremia gene encodes for a protein, the Rab escort protein-1 (REP1), which is involved in membrane trafficking.[supplied by OMIM]^[1]

[edit] References

^ ^a ^b Entrez Gene: CHM choroideremia (Rab escort protein 1).

[edit] Further reading

Sankila EM, Tolvanen R, van den Hurk JA, et al. (1993). "Aberrant splicing of the CHM gene is a significant cause of choroideremia.". Nat. Genet. 1 (2): 109–13. doi:10.1038/ng0592-109. PMID 1302003.
Molloy CM, van de Pol TJ, Brohet RM, et al. (1992). "Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2.". Nucleic Acids Res. 20 (6): 1434. PMID 1373238.
Merry DE, Jänne PA, Landers JE, et al. (1992). "Isolation of a candidate gene for choroideremia.". Proc. Natl. Acad. Sci. U.S.A. 89 (6): 2135–9. PMID 1549574.
van den Hurk JA, van de Pol TJ, Molloy CM, et al. (1992). "Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing.". Am. J. Hum. Genet. 50 (6): 1195–202. PMID 1598901.
Fodor E, Lee RT, O'Donnell JJ (1991). "Analysis of choroideraemia gene.". Nature 351 (6328): 614. doi:10.1038/351614b0. PMID 1904992.
Cremers FP, van de Pol DJ, van Kerkhoff LP, et al. (1990). "Cloning of a gene that is rearranged in patients with choroideraemia.". Nature 347 (6294): 674–7. doi:10.1038/347674a0. PMID 2215697.
Cremers FP, Sankila EM, Brunsmann F, et al. (1990). "Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.". Am. J. Hum. Genet. 47 (4): 622–8. PMID 2220804.
Donnelly P, Menet H, Fouanon C, et al. (1994). "Missense mutation in the choroideremia gene.". Hum. Mol. Genet. 3 (6): 1017. PMID 7951216.
Alexandrov K, Horiuchi H, Steele-Mortimer O, et al. (1994). "Rab escort protein-1 is a multifunctional protein that accompanies newly prenylated rab proteins to their target membranes.". EMBO J. 13 (22): 5262–73. PMID 7957092.
van Bokhoven H, van den Hurk JA, Bogerd L, et al. (1995). "Cloning and characterization of the human choroideremia gene.". Hum. Mol. Genet. 3 (7): 1041–6. PMID 7981670.
Cremers FP, Armstrong SA, Seabra MC, et al. (1994). "REP-2, a Rab escort protein encoded by the choroideremia-like gene.". J. Biol. Chem. 269 (3): 2111–7. PMID 8294464.
Seabra MC, Brown MS, Goldstein JL (1993). "Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase.". Science 259 (5093): 377–81. PMID 8380507.
Schwartz M, Rosenberg T, van den Hurk JA, et al. (1993). "Identification of mutations in Danish choroideremia families.". Hum. Mutat. 2 (1): 43–7. doi:10.1002/humu.1380020108. PMID 8477262.
Overmeyer JH, Wilson AL, Erdman RA, Maltese WA (1998). "The putative "switch 2" domain of the Ras-related GTPase, Rab1B, plays an essential role in the interaction with Rab escort protein.". Mol. Biol. Cell 9 (1): 223–35. PMID 9437002.
Alexandrov K, Simon I, Iakovenko A, et al. (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. PMID 9563513.
Raffaniello RD, Raufman JP (1999). "Cytosolic RAB3D is associated with RAB escort protein (REP), not RAB-GDP dissociation inhibitor (GDI), in dispersed chief cells from guinea pig stomach.". J. Cell. Biochem. 72 (4): 540–8. PMID 10022613.
Thomä NH, Iakovenko A, Kalinin A, et al. (2001). "Allosteric regulation of substrate binding and product release in geranylgeranyltransferase type II.". Biochemistry 40 (1): 268–74. PMID 11141079.
Syed N, Smith JE, John SK, et al. (2001). "Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia.". Ophthalmology 108 (4): 711–20. PMID 11297488.
Rak A, Reents R, Pylypenko O, et al. (2002). "Crystallization and preliminary X-ray diffraction analysis of the Rab escort protein-1 in complex with Rab geranylgeranyltransferase.". J. Struct. Biol. 136 (2): 158–61. doi:10.1006/jsbi.2001.4433. PMID 11886217.
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. PMID 12477932.