Gene

chm

ID

ZDB-GENE-030318-2

Name

CHM Rab escort protein

Symbol

chm Nomenclature History

Previous Names

eva
evanescence (1)
REP1 (1)

Type

protein_coding_gene

Location

Chr: 21 Mapping Details/Browsers

Description

Enables Rab geranylgeranyltransferase activity. Acts upstream of or within several processes, including detection of mechanical stimulus involved in sensory perception of sound; eye development; and iridophore differentiation. Predicted to be part of Rab-protein geranylgeranyltransferase complex. Predicted to be active in cytosol and nucleus. Used to study choroideremia. Human ortholog(s) of this gene implicated in asthma and choroideremia. Orthologous to several human genes including CHM (CHM Rab escort protein).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

4 figures from 4 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:109728 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 32 figures from 12 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With chm Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
choroideremia	Alliance	Choroideremia	303100

Associated With chm Via Experimental Models

Human Disease	Fish	Conditions	Citations
choroideremia	chm^ru848/ru848 (AB)	standard conditions	Lima Cunha et al., 2021
choroideremia	chm^ru848/ru848 (AB)	standard conditions	(2)
choroideremia	chm^ru848/ru848	standard conditions	(4)

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR054420	RAE1/2 domain I, C-terminal region
Family	IPR001738	Rab protein geranylgeranyltransferase component A
Family	IPR018203	GDP dissociation inhibitor
Homologous_superfamily	IPR036188	FAD/NAD(P)-binding domain superfamily