CHML (gene)

AliasesCHML, REP2, choroideremia-like (Rab escort protein 2), CHM like, Rab escort protein 2, CHM like Rab escort protein

External IDsOMIM: 118825; MGI: 101913; HomoloGene: 31055; GeneCards: CHML; OMA:CHML - orthologs

Chr.Chromosome 1 (human)^[1]

End241,640,369 bp^[1]

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)[1] Band 1q43 Start 241,628,851 bp[1] End 241,640,369 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 H3|1 81.7 cM Start 175,509,803 bp[2] End 175,520,467 bp[2]
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 [3] [4]
Wikidata
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Rab proteins geranylgeranyltransferase component A 2 is an enzyme that in humans is encoded by the CHML gene.^[5][6]

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.^[6]