GenTIGS

CHM Rab escort protein (CHM) Associated conditions: 1. Choroideremia 2. Retinitis pigmentosa

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000390.4	NP_000381.1	NC_000023.11	(85861179..86047557, complement)	Reference GRCh38.p14 Primary Assembly	P24386
2	REVIEWED	NM_001145414.4	NP_001138886.1	NC_000023.11	(85861179..86047557, complement)	Reference GRCh38.p14 Primary Assembly	P24386
3	REVIEWED	NM_001320959.1	NP_001307888.1	NC_000023.11	(85861179..86047557, complement)	Reference GRCh38.p14 Primary Assembly	P24386
4	REVIEWED	NM_001362517.1	NP_001349446.1	NC_000023.11	(85861179..86047557, complement)	Reference GRCh38.p14 Primary Assembly	P24386
5	REVIEWED	NM_001362518.2	NP_001349447.1	NC_000023.11	(85861179..86047557, complement)	Reference GRCh38.p14 Primary Assembly	P24386
6	REVIEWED	NM_001362519.1	NP_001349448.1	NC_000023.11	(85861179..86047557, complement)	Reference GRCh38.p14 Primary Assembly	P24386

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1115 reference articles

Variant Information CHM Rab escort protein (CHM) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene CHM Rab escort protein (CHM)

ClinVar variants:Revealing mutagenic patterns

GO Term of CHM Rab escort protein (CHM)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	TAS	enables	Rab geranylgeranyltransferase activity	Function	8380507
2	Homo sapiens	IEA	enables	GDP-dissociation inhibitor activity	Function	-
3	Homo sapiens	IEA	enables	GTPase activator activity	Function	-
4	Homo sapiens	IPI	enables	protein binding	Function	21905166 28514442 33961781 35271311 40205054
5	Homo sapiens	IBA	is_active_in	nucleus	Component	-
6	Homo sapiens	IBA	is_active_in	cytosol	Component	-
7	Homo sapiens	IDA	located_in	cytosol	Component	-
8	Homo sapiens	IEA	located_in	cytosol	Component	-
9	Homo sapiens	IMP	located_in	cytosol	Component	7957092
10	Homo sapiens	TAS	located_in	cytosol	Component	-
11	Homo sapiens	IBA	part_of	Rab-protein geranylgeranyltransferase complex	Component	-
12	Homo sapiens	IDA	part_of	Rab-protein geranylgeranyltransferase complex	Component	7957092
13	Homo sapiens	IEA	part_of	Rab-protein geranylgeranyltransferase complex	Component	-
14	Homo sapiens	TAS	part_of	Rab-protein geranylgeranyltransferase complex	Component	8380507
15	Homo sapiens	IBA	involved_in	protein targeting to membrane	Process	-
16	Homo sapiens	IMP	involved_in	protein targeting to membrane	Process	7957092
17	Homo sapiens	IEA	involved_in	intracellular protein transport	Process	-
18	Homo sapiens	IEA	involved_in	small GTPase-mediated signal transduction	Process	-
19	Homo sapiens	IEA	involved_in	visual perception	Process	-
20	Homo sapiens	TAS	involved_in	visual perception	Process	7981670
21	Homo sapiens	IBA	involved_in	vesicle-mediated transport	Process	-
22	Homo sapiens	IDA	involved_in	protein geranylgeranylation	Process	7957092
23	Homo sapiens	TAS	involved_in	protein geranylgeranylation	Process	8380507
24	Homo sapiens	IDA	enables	small GTPase binding	Function	7957092
25	Homo sapiens	IEA	enables	small GTPase binding	Function	-
26	Homo sapiens	IPI	enables	small GTPase binding	Function	7957092