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; iridophore differentiation; and sensory organ development. 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 choroideremia. Orthologous to human 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
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
23 figures from 9 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 chmru848/ru848 standard conditions (4)
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR001738 Rab protein geranylgeranyltransferase component A
Family IPR018203 GDP dissociation inhibitor
Homologous_superfamily IPR036188 FAD/NAD(P)-binding domain superfamily
Domain Details Per Protein
Protein Length FAD/NAD(P)-binding domain superfamily GDP dissociation inhibitor Rab protein geranylgeranyltransferase component A
UniProtKB:Q4V9Q9 666
UniProtKB:A8KBQ8 666
UniProtKB:Q6RFG0 666
UniProtKB:F1Q9R8 666
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-chm polyclonal
  • WB
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations