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FLASH GENE

Symbol

CHM

contributors: mct/shn - updated : 29-06-2010

HGNC name	choroideremia (Rab escort protein 1)
HGNC id	1940

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE
text	subject to X inactivation in some X chromosomes and escaping inactivation in others
STRUCTURE	186.38 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - DXS8076 - DXS1209 - CHM CHM - DXS1002 - DXS8114 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000390 15 - 5442 NP_000381 - 653 - -

EXPRESSION

Type

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Visual eye uvea choroid

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective         Epithelial barrier/lining retinal pigment epithelium (RPE)     Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune lymphoblast

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a GDP dissociation inhibitor domain

mono polymer

heteromer , dimer

HOMOLOGY

interspecies	ortholog to CHM, Pan troglodytes
	homolog to yeast MRS6
	ortholog to Chm, Rattus norvegicus
	ortholog to Chm, Mus musculus
	ortholog to chm, Danio rerio

Homologene

FAMILY

Rab GDI family

CATEGORY

enzyme , transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	activating geranyl-geranyltransferase A (RABGGTA), prenylating C terminus of RAB
	involved in lipid modification (prenylation) of Rab GTPases, key regulators of intracellular vesicular transport and organelle dynamics

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

text	vesicle transport

PATHWAY

metabolism

lipid/lipoprotein

signaling

signal transduction , sensory transduction/vision

a component

omponent A of the RAB geranylgeranyl transferase holoenzyme

INTERACTION

DNA

RNA

small molecule

protein	60 distinct Rab proteins (Pereira-Leal et al, 2003)
	RAB7, member RAS oncogene family (Rak et al, 2004)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CHM

related resource

REP1Mutations Retinal Information Network

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	mice disrupted totally for chm/rep-1 gene die in utero and heterozygous mice display photoreceptor cell degeneration (van den Hurk et al, 1997)
	conditional knockout mouse models for Chm gene lead to progressive degeneration of the photoreceptors, patchy depigmentation of the RPE, and Rab prenylation defects (Tolmachova et al, 2006)
	Lack of REP-1 protein expression in hfRPE cells leads to reduced degradation of photoreceptor outer segments (Gordiyenko et al, 2010)