CHM - CHM Rab escort protein Gene

Homo sapiens

Also known as TCD; GGTA; REP-1; DXS540; HSD-32

Gene ID: 1121 | Gene type: protein coding

About CHM

Cytogenetic location: Xq21.2 Genomic coordinates (GRCh38): X:85,861,180-86,047,558 (from NCBI)

This gene has 5 transcripts (splice variants), 204 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 4.7), thyroid (RPKM 4.5) and 25 other tissues.

Summary

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. 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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]

CHM Products(6)

mRNA	Protein	Name
NM_000390.4	NP_000381.1	rab proteins geranylgeranyltransferase component A 1 isoform a
NM_001145414.4	NP_001138886.1	rab proteins geranylgeranyltransferase component A 1 isoform b
NM_001320959.1	NP_001307888.1	rab proteins geranylgeranyltransferase component A 1 isoform c
NM_001362517.1	NP_001349446.1	rab proteins geranylgeranyltransferase component A 1 isoform c
NM_001362518.2	NP_001349447.1	rab proteins geranylgeranyltransferase component A 1 isoform c
NM_001362519.1	NP_001349448.1	rab proteins geranylgeranyltransferase component A 1 isoform c

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21905166	GOA
enables small GTPase binding	IDA IDA: Inferred from direct assay	7957092	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	7957092	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in protein geranylgeranylation	IDA IDA: Inferred from direct assay	7957092	GOA
involved in protein targeting to membrane	IMP IMP: Inferred from mutant phenotype	7957092	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of Rab-protein geranylgeranyltransferase complex	IDA IDA: Inferred from direct assay	7957092	GOA
located in cytosol	IMP IMP: Inferred from mutant phenotype	7957092	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHM Protein Structure

GDI

0
100
200
300
400
500
600
653 a.a.

Protein Preferred Names

Protein Names

rab proteins geranylgeranyltransferase component A 1

CHM, Rab escort protein 1

Related Diseases

Diseases

Alias

Choroideremia

CHM	Tcd
Progressive Tapetochoroidal Dystrophy	Choroidal Sclerosis
Tapetochoroidal Dystrophy, Progressive	Progressive Choroidal Atrophy
Tapetochoroidal Dystrophy

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Night Blindness

Nyctalopia

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Choroid Disease

Choroid Diseases

Abnormality Of The Choroid

Retinoschisis 1, X-Linked, Juvenile

Retinoschisis	X-Linked Retinoschisis
X-Linked Juvenile Retinoschisis	RS1
XLRS1	X-Linked Juvenile Retinoschisis 1
Xlrs	Retinoschisis, X-Linked
Rs	Congenital X-Linked Retinoschisis
Degenerative Retinoschisis	Juvenile Retinoschisis
Xjr	Retinoschisis Juvenile X-Linked 1
Retinoschisis, Juvenile, X-Linked	Retinoschisis, Degenerative

Retinal Degeneration

Degeneration Of Retina

Uveal Disease

Uveal Diseases

Gyrate Atrophy Of Choroid And Retina

Gyrate Atrophy	Ornithine Aminotransferase Deficiency
HOGA	Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina
Oat Deficiency	Okt Deficiency
Hyperornithinemia	Ornithine Keto Acid Aminotransferase Deficiency
Ornithine-Delta-Aminotransferase Deficiency	Gyrate Atrophy Of The Choroid And Retina
GACR	Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia
Gyrate Atrophy Of The Retina	Ornithinemia With Gyrate Atrophy
Ornithinemia	Fuchs Atrophia Gyrata Chorioideae Et Retinae
Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome	Gyrate Atrophy Of The Choroid And/Or Retina
Girate Atrophy Of The Retina	Ornithine Ketoacid Aminotransferase Deficiency
Atrophy, Gyrate, Of Choroid And Retina

Oliver-Mcfarlane Syndrome

Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	OMCS
Long Eyelashes-Intellectual Disability Syndrome	Trichomegaly With Mental Retardation, Dwarfism, And Pigmentary Degeneration Of Retina
Eyelashes, Long, With Mental Retardation	Eyelashes Long Mental Retardation
Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration	Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration Of Retina
Eyelashes, Long With Intellectual Disability	Oliver Mcfarlane Syndrome
Congenital Trichomegaly, Pigmentary Retinal Degeneration, And Short Stature	Trichomegaly, Retina Pigmentary Degeneration, Dwarfism
Trichomegaly Retina Pigmentary Degeneration Dwarfism

Gaucher Disease, Type Ii

GD2	Gd Ii
Gaucher Disease, Acute Neuronopathic Type	Gaucher Disease Type 2
Gaucher Disease Type Ii	Gaucher'S Disease Type Ii
Infantile Cerebral Gaucher Disease	Acute Neuronopathic Gaucher Disease
Gd 2	Gaucher Disease, Infantile Cerebral
Gaucher Disease 2	Type 2 Gaucher Disease
Gaucher Disease, Type 2

Acquired Color Blindness

Acquired Color Vision Deficiencies	Acquired Color Vision Deficiency
Acquired Colour Blindness	Acquired Colour Vision Deficiencies
Acquired Colour Vision Deficiency

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

Leber Optic Atrophy And Dystonia

LDYT	Marsden Syndrome
Leber Hereditary Optic Neuropathy With Dystonia	Leber Hereditary Optic Neuropathy And Dystonia
Familial Dystonia With Visual Failure And Striatal Lucencies	Dystonia, Familial, With Visual Failure And Striatal Lucencies
Leber Optic Atrophy With Dystonia	Dystonia Familial, With Visual Failure And Striatal Lucencies
Lhon And Dystonia	Leber'S Hereditary Optic Neuropathy With Dystonia

Macular Holes

Macular Hole

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Sorsby Fundus Dystrophy

SFD	Fundus Dystrophy, Pseudoinflammatory, Of Sorsby
Sorsby'S Fundus Dystrophy	Macular Dystrophy, Hemorrhagic
Hemorrhagic Macular Dystrophy	Pseudoinflammatory Fundus Dystrophy Of Sorsby
Sorsby'S Pseudoinflammatory Macular Dystrophy	Sorsby Pseudoinflammatory Fundus Dystrophy
Dystrophy, Fundus, Sorsby

Stargardt Disease

Stargardt Disease 1	Stargardt Macular Dystrophy
Stargardt Disease-1	Juvenile Onset Macular Degeneration
Stargardt Macular Degeneration	Juvenile Macular Degeneration
Macular Dystrophy With Flecks, Type 1	Stgd
Fundus Flavimaculatus	Stargardt 1
Stargardts Disease

Macular Degeneration, Age-Related, 1

Macular Degeneration	Age-Related Macular Degeneration
Macular Degeneration, Age-Related	Age Related Macular Degeneration
Age Related Macular Degeneration 1	ARMD1
Senile Macular Degeneration	Maculopathy, Age-Related, 1
Macular Degeneration, Age-Related, Reduced Risk Of	Age Related Maculopathy 1
Age Related Maculopathies	Age Related Maculopathy
Senile Macular Retinal Degeneration	Macular Degeneration Of Retina
Age-Related Maculopathy	Amd
Armd	Age-Related Maculopathy, Susceptibility To
Maculopathy Age-Related	Macular Degeneration, Age-Related, 1, Susceptibility To
Maculopathy, Age-Related	Macular Degeneration, Age-Related, Type 1
Macular Degeneration, Age-Related, 2

Achromatopsia

Achm	Rod Monochromatism
Total Color Blindness	Rod Monochromacy
Monochromatism	Achromatism
Complete Or Incomplete Color Blindness	Pingelapese Blindness
Achromatopsia 1	Achromatopsia 2
Achromatopsia 3

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy	Leber Hereditary Optic Neuropathy
LHON	Leber'S Hereditary Optic Neuropathy
Leber Optic Atrophy, Susceptibility To	Leber'S Optic Atrophy
LOAM	Loas
Leber'S Disease	Leber'S Optic Neuropathy
Optic Atrophy, Hereditary, Leber	Lhon, Modifier Of
Optic Atrophy, Leber Type	Hereditary Optic Neuroretinopathy
Leber Hereditary Optic Atrophy	Loa
Optic Atrophy Leber Type	Leber Hereditary Optic Neuropathy, Modifier
Leber Hereditary Optic Neuropathy Susceptibility	Modifier Of Leber Hereditary Optic Neuropathy
Lebers Hereditary Optic Neuropathy	Leber Congenital Amaurosis

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-103257	CHM-1	Inhibitor	99.57%	Unkown
HY-RS02636	CHM Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-120482	CHM-1-P-Na		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CHM	RGD	RGD:2340
Canis familiaris	CHM	VGNC	VGNC:39220
Mus musculus	CHM	MGD	MGI:892979
Macaca mulatta	CHM	VGNC	VGNC:71040
Bos taurus	CHM	VGNC	VGNC:27297
Felis catus	CHM	VGNC	VGNC:60861
Others	CHM	NCBI

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