InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CHM

Summary

InnateDB Protein

IDBP-78634.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CHM

Protein Name

choroideremia (Rab escort protein 1)

Synonyms

DXS540; GGTA; HSD-32; REP-1; TCD;

Species

Homo sapiens

Ensembl Protein

ENSP00000350386

InnateDB Gene

IDBG-78632 (CHM)

Protein Structure

UniProt Annotation

Function

Substrate-binding subunit of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B composed of RABGGTA and RABGGTB, and remains bound to it after the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Besides, a pre-formed complex consisting of CHM and the Rab GGTase dimer (RGGT or component B) can bind to and prenylate Rab proteins; this alternative pathway is proposed to be the predominant pathway for Rab protein geranylgeranylation. {ECO:0000269PubMed:18532927, ECO:0000269PubMed:7957092}.

Subcellular Localization

Cytoplasm, cytosol {ECO:0000269PubMed:7957092}.

Disease Associations

Choroideremia (CHM) [MIM:303100]: An X-linked recessive disease characterized by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy. {ECO:0000269PubMed:19427510, ECO:0000269PubMed:21905166, ECO:0000269PubMed:7951216}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.

Experimentally validated
Total	10 [view]
Protein-Protein	9 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004663	Rab geranylgeranyltransferase activity
GO:0005096	GTPase activator activity
GO:0017137	Rab GTPase binding

Biological Process

GO:0001568	blood vessel development
GO:0006612	protein targeting to membrane
GO:0006886	intracellular protein transport
GO:0007601	visual perception
GO:0008152	metabolic process
GO:0018344	protein geranylgeranylation
GO:0043547	positive regulation of GTPase activity
GO:0050896	response to stimulus

Cellular Component

GO:0005829	cytosol
GO:0005968	Rab-protein geranylgeranyltransferase complex

Protein Structure and Domains

PDB ID

InterPro

IPR001738 Rab escort (choroideraemia) protein
IPR016664 Rab protein geranylgeranyltransferase component A, eukaryota
IPR018203 GDP dissociation inhibitor

PFAM

PF00996

PRINTS

PR00893
PR00891

PIRSF

PIRSF016550

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt