CHM

GENERAL INFORMATION

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Gene name

CHM

Gene description

Choroideremia (Rab escort protein 1)

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA003231 , CAB016171
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

CHM (HGNC Symbol)

Synonyms

DXS540, REP-1, TCD

Description

Choroideremia (Rab escort protein 1) (HGNC Symbol)

Entrez gene 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. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]

Chromosome

X

Cytoband

q21.2

Chromosome location (bp)

85861180 - 86047562

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000188419 (version 78.38)

Entrez gene

1121

UniProt

P24386 (UniProt - Evidence at protein level)

neXtProt

NX_P24386

Antibodypedia

CHM antibodies


PROTEIN BROWSER

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ENST00000357749
 
ENST00000615443
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CHM-001 ENSP00000350386
ENST00000357749
P24386
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Show » Show » 653 73.5 No 0
CHM-002 ENSP00000484306
ENST00000615443
P24386
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Show » Show » 110 12.3 No 0