Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1121
Gene name Gene Name - the full gene name approved by the HGNC.
CHM Rab escort protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CHM
Synonyms (NCBI Gene) Gene synonyms aliases
DXS540, GGTA, HSD-32, REP-1, TCD
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs132630263 GG>TC Pathogenic Coding sequence variant, stop gained, genic downstream transcript variant
rs132630264 G>T Pathogenic Coding sequence variant, stop gained, genic downstream transcript variant
rs132630265 C>A Pathogenic Coding sequence variant, stop gained, genic downstream transcript variant
rs132630266 G>A Pathogenic Coding sequence variant, stop gained, genic downstream transcript variant
rs132630267 G>T Pathogenic Coding sequence variant, stop gained, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT024694 hsa-miR-215-5p Microarray 19074876
MIRT026666 hsa-miR-192-5p Microarray 19074876
MIRT029824 hsa-miR-26b-5p Microarray 19088304
MIRT890226 hsa-miR-1200 CLIP-seq
MIRT890227 hsa-miR-122 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004663 Function Rab geranylgeranyltransferase activity TAS 8380507
GO:0005092 Function GDP-dissociation inhibitor activity IEA
GO:0005096 Function GTPase activator activity IEA
GO:0005515 Function Protein binding IPI 21905166, 28514442
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300390 1940 ENSG00000188419
Protein
UniProt ID P24386
Protein name Rab proteins geranylgeranyltransferase component A 1 (Choroideremia protein) (Rab escort protein 1) (REP-1) (TCD protein)
Protein 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 g
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00996 GDI 5 138 GDP dissociation inhibitor Family
PF00996 GDI 205 543 GDP dissociation inhibitor Family
Sequence
Sequence length 653
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
RAB geranylgeranylation
RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Choroideremia Choroideremia rs132630263, rs132630264, rs132630265, rs587776746, rs132630267, rs132630266, rs397514603, rs386833676, rs281865373, rs527236048, rs786204761, rs886041179, rs886041177, rs776256380, rs1057516265
View all (20 more)
10447648, 1302003, 21905166, 7951216, 12827496, 12203991, 19427510, 16936131
Myopia Myopia rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805
View all (6 more)
Retinal dystrophy Retinal Dystrophies rs267606794, rs200691042, rs397704718, rs202193201, rs794728002, rs121965036, rs121965057, rs121918129, rs137853190, rs386834252, rs121918165, rs137853113, rs137853114, rs121918328, rs587777803
View all (2328 more)
Retinitis pigmentosa Retinitis Pigmentosa rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114
View all (1830 more)
30718709
Associations from Text Mining
Disease Name Relationship Type References
Alcoholism Associate 19196539
Anxiety Associate 33082300
Blindness Associate 24358126
Choroideremia Associate 12668061, 15186776, 20027300, 22355242, 23940504, 24358126, 24439297, 24672218, 24791138, 26216097, 26411914, 26720468, 27070432, 27739455, 2798422
View all (11 more)
Color Vision Defects Associate 23940504
Cone Rod Dystrophies Associate 23940504
Craniocerebral Trauma Associate 22275250
Cytomegalovirus Infections Associate 12668061
Deafness Associate 1675684
Depressive Disorder Associate 33082300