CHM - CHM Rab escort protein Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1121

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	References	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	References	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	References	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

CHM Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CHM	P24386	RABGGTA	Homo sapiens	Q92696	Anti Tag CoIP	35271311

Cross: Cross-species interaction Intra: Intraspecies interaction

CHM Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86814	CHM Antibody (YA6507)	WB, ICC/IF, IHC-P, FC	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-103257	CHM-1	Inhibitor	99.57%	Unkown
HY-120482	CHM-1-P-Na	Control	/	Unkown
HY-RS02636	CHM Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS08633	MPZ Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-170700	CHM-FUBIATA		/	Unkown
HY-RS19561	Chm Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26057	Chm Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W754600	BZO-CHMOXIZID	Activator	/	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