CHML (gene)

CHML
Identifiers
Aliases	CHML, REP2, choroideremia-like (Rab escort protein 2), CHM like, Rab escort protein 2, CHM like Rab escort protein
External IDs	OMIM: 118825; MGI: 101913; HomoloGene: 31055; GeneCards: CHML; OMA:CHML - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1q43 Start 241,628,851 bp End 241,640,369 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1 H3|1 81.7 cM Start 175,509,803 bp End 175,520,467 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm ganglionic eminence Brodmann area 23 postcentral gyrus ventricular zone visceral pleura superior frontal gyrus placenta testicle primary visual cortex Top expressed in superior cervical ganglion vestibular membrane of cochlear duct hand supraoptic nucleus lumbar spinal ganglion atrium tail of embryo substantia nigra lateral geniculate nucleus trigeminal ganglion More reference expression data BioGPS More reference expression data
Gene ontology Molecular function GTPase activator activity GDP-dissociation inhibitor activity Cellular component nucleoplasm Rab-protein geranylgeranyltransferase complex cytoplasm cytosol nucleus Biological process positive regulation of GTPase activity intracellular protein transport protein geranylgeranylation regulation of catalytic activity small GTPase mediated signal transduction post-translational protein modification vesicle-mediated transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1122 12663 Ensembl ENSG00000203668 ENSMUSG00000078185 UniProt P26374 Q9QZD5 RefSeq (mRNA) NM_001821 NM_001381853 NM_001381854 NM_021350 RefSeq (protein) NP_001812 NP_001368782 NP_001368783 NP_067325 Location (UCSC) Chr 1: 241.63 – 241.64 Mb Chr 1: 175.51 – 175.52 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Rab proteins geranylgeranyltransferase component A 2 is an enzyme that in humans is encoded by the CHML gene.

The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II.

Interactions

CHML (gene) has been shown to interact with RAB1A and RAB5A.

Further reading

• Cremers FP, Molloy CM, van de Pol DJ, van den Hurk JA, Bach I, Geurts van Kessel AH, Ropers HH (May 1992). "An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q". Human Molecular Genetics. 1 (2): 71–5. doi:10.1093/hmg/1.2.71. PMID 1301160.
• Seabra MC, Ho YK, Anant JS (October 1995). "Deficient geranylgeranylation of Ram/Rab27 in choroideremia". The Journal of Biological Chemistry. 270 (41): 24420–7. doi:10.1074/jbc.270.41.24420. PMID 7592656.
• von Bokhoven H, von Genderen C, Molloy CM, van de Pol DJ, Cremers CW, von Aarem A, et al. (January 1994). "Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II". Genomics. 19 (2): 385–7. doi:10.1006/geno.1994.1077. PMID 8188272.
• Cremers FP, Armstrong SA, Seabra MC, Brown MS, Goldstein JL (January 1994). "REP-2, a Rab escort protein encoded by the choroideremia-like gene". The Journal of Biological Chemistry. 269 (3): 2111–7. doi:10.1016/S0021-9258(17)42142-9. PMID 8294464.
• Anant JS, Desnoyers L, Machius M, Demeler B, Hansen JC, Westover KD, et al. (September 1998). "Mechanism of Rab geranylgeranylation: formation of the catalytic ternary complex". Biochemistry. 37 (36): 12559–68. doi:10.1021/bi980881a. PMID 9730828.
• Chan D, Lin J, Raffaniello RD (December 2000). "Expression and localization of rab escort protein isoforms in parotid acinar cells from rat". Journal of Cellular Physiology. 185 (3): 339–47. doi:10.1002/1097-4652(200012)185:3<339::AID-JCP4>3.0.CO;2-4. PMID 11056004. S2CID 23575277.
• Kasper G, Taudien S, Staub E, Mennerich D, Rieder M, Hinzmann B, et al. (July 2002). "Different structural organization of the encephalopsin gene in man and mouse". Gene. 295 (1): 27–32. doi:10.1016/S0378-1119(02)00799-0. PMID 12242008.
• Pereira-Leal JB, Strom M, Godfrey RF, Seabra MC (January 2003). "Structural determinants of Rab and Rab Escort Protein interaction: Rab family motifs define a conserved binding surface". Biochemical and Biophysical Research Communications. 301 (1): 92–7. doi:10.1016/S0006-291X(02)02963-7. PMID 12535645.
• Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, et al. (June 2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nature Biotechnology. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197. S2CID 27764390.
• Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, et al. (December 2005). "Transcriptome analysis of human gastric cancer". Mammalian Genome. 16 (12): 942–54. doi:10.1007/s00335-005-0075-2. PMID 16341674. S2CID 69278.
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.

External links

• Human CHML genome location and CHML gene details page in the UCSC Genome Browser.