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Aliases for CHM Gene

Aliases for CHM Gene

  • Choroideremia (Rab Escort Protein 1) 2 3
  • TCD 3 4 6
  • REP-1 3 4
  • Rab Proteins Geranylgeranyltransferase Component A 1 3
  • Choroideremia Protein 4
  • Rab Escort Protein 1 4
  • TCD Protein 4
  • HSD-32 3
  • DXS540 3
  • GGTA 3
  • REP1 4

External Ids for CHM Gene

Previous HGNC Symbols for CHM Gene

  • TCD
  • DXS540

Previous GeneCards Identifiers for CHM Gene

  • GC0XM080499
  • GC0XM082196
  • GC0XM083152
  • GC0XM083889
  • GC0XM083891
  • GC0XM084923
  • GC0XM085002
  • GC0XM085116
  • GC0XM078692

Summaries for CHM Gene

Entrez Gene Summary for CHM 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 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]

GeneCards Summary for CHM Gene

CHM (Choroideremia (Rab Escort Protein 1)) is a Protein Coding gene. Diseases associated with CHM include charcot-marie-tooth disease, dominant intermediate d and choroideremia. GO annotations related to this gene include GTPase activator activity and Rab geranylgeranyltransferase activity. An important paralog of this gene is CHML.

UniProtKB/Swiss-Prot for CHM Gene

  • 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.

Gene Wiki entry for CHM Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHM Gene

Genomics for CHM Gene

Regulatory Elements for CHM Gene

Transcription factor binding sites by QIAGEN in the CHM gene promoter:

Genomic Location for CHM Gene

Start:
85,861,180 bp from pter
End:
86,047,562 bp from pter
Size:
186,383 bases
Orientation:
Minus strand

Genomic View for CHM Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHM Gene

Proteins for CHM Gene

  • Protein details for CHM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P24386-RAE1_HUMAN
    Recommended name:
    Rab proteins geranylgeranyltransferase component A 1
    Protein Accession:
    P24386
    Secondary Accessions:
    • A1L4D2
    • O43732

    Protein attributes for CHM Gene

    Size:
    653 amino acids
    Molecular mass:
    73476 Da
    Quaternary structure:
    • Monomer. Heterotrimer composed of RABGGTA, RABGGTB and CHM; within this trimer, RABGGTA and RABGGTB form the catalytic component B, while CHM (component A) mediates Rab protein binding. Can associate with the Rab GGTase dimer (RGGT or component B) prior to Rab protein binding; the association is stabilized by geranylgeranyl pyrophosphate (GGpp). The CHM:RGGT:Rab complex is destabilized by GGpp. Interacts with RAB1A, RAB1B, RAB5A, RAB7A and RAB27A and mediates their prenylation.

    Alternative splice isoforms for CHM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHM Gene

Proteomics data for CHM Gene at MOPED

Post-translational modifications for CHM Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CHM Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CHM Gene

Domains for CHM Gene

Protein Domains for CHM Gene

Graphical View of Domain Structure for InterPro Entry

P24386

UniProtKB/Swiss-Prot:

RAE1_HUMAN :
  • P24386
Family:
  • Belongs to the Rab GDI family.
genes like me logo Genes that share domains with CHM: view

No data available for Gene Families for CHM Gene

Function for CHM Gene

Molecular function for CHM Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for CHM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004663 Rab geranylgeranyltransferase activity TAS 8380507
GO:0005096 GTPase activator activity IEA --
GO:0017137 Rab GTPase binding IPI 7957092
genes like me logo Genes that share ontologies with CHM: view
genes like me logo Genes that share phenotypes with CHM: view

Animal Models for CHM Gene

MGI Knock Outs for CHM:

miRNA for CHM Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CHM Gene

Localization for CHM Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHM Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHM Gene COMPARTMENTS Subcellular localization image for CHM gene
Compartment Confidence
cytosol 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CHM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IMP 7957092
GO:0005968 Rab-protein geranylgeranyltransferase complex IDA 7957092
genes like me logo Genes that share ontologies with CHM: view

Pathways for CHM Gene

SuperPathways for CHM Gene

No Data Available

Gene Ontology (GO) - Biological Process for CHM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001568 blood vessel development IEA --
GO:0006612 protein targeting to membrane IMP 7957092
GO:0007601 visual perception IEA --
GO:0018344 protein geranylgeranylation IDA 7957092
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with CHM: view

No data available for Pathways by source for CHM Gene

Compounds for CHM Gene

(1) Drugbank Compounds for CHM Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
FARNESYL
target

(7) Novoseek inferred chemical compound relationships for CHM Gene

Compound -log(P) Hits PubMed IDs
geranylgeranyl pyrophosphate 62.4 7
gibberellin 48.9 2
gdp 34.2 4
abscisic acid 30.4 2
cysteine 24.6 5
genes like me logo Genes that share compounds with CHM: view

Transcripts for CHM Gene

Unigene Clusters for CHM Gene

Choroideremia (Rab escort protein 1):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHM Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b
SP1: -
SP2: - -
SP3: - - -
SP4: -
SP5:
SP6: -

Relevant External Links for CHM Gene

GeneLoc Exon Structure for
CHM
ECgene alternative splicing isoforms for
CHM

Expression for CHM Gene

mRNA expression in normal human tissues for CHM Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CHM Gene

SOURCE GeneReport for Unigene cluster for CHM Gene Hs.496449

genes like me logo Genes that share expressions with CHM: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CHM Gene

Orthologs for CHM Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CHM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHM 35
  • 99.74 (n)
  • 99.54 (a)
CHM 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHM 35
  • 90.3 (n)
  • 88.21 (a)
CHM 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHM 35
  • 90.64 (n)
  • 88.34 (a)
CHM 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chm 35
  • 86.3 (n)
  • 84.39 (a)
Chm 16
Chm 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 58 (a)
ManyToMany
-- 36
  • 71 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 54 (a)
ManyToMany
-- 36
  • 63 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Chm 35
  • 86.4 (n)
  • 84.23 (a)
chicken
(Gallus gallus)
Aves CHM 35
  • 69.98 (n)
  • 66.56 (a)
CHM 36
  • 65 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 64 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC68578 35
tropical clawed frog
(Silurana tropicalis)
Amphibia chml 35
  • 63.88 (n)
  • 57.98 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.635 35
zebrafish
(Danio rerio)
Actinopterygii chm 36
  • 53 (a)
OneToMany
Dr.17040 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010419 35
  • 51.07 (n)
  • 42.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rep 35
  • 46.41 (n)
  • 39.43 (a)
Rep 36
  • 36 (a)
OneToMany
Rep 37
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea rep-1 36
  • 34 (a)
OneToMany
Y67D2.1 37
  • 30 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GDI1 36
  • 24 (a)
OneToMany
Species with no ortholog for CHM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHM Gene

ENSEMBL:
Gene Tree for CHM (if available)
TreeFam:
Gene Tree for CHM (if available)

Paralogs for CHM Gene

Paralogs for CHM Gene

Selected SIMAP similar genes for CHM Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CHM: view

Variants for CHM Gene

Sequence variations from dbSNP and Humsavar for CHM Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs1569505 -- 85,911,227(-) atata(C/G/T)atata intron-variant
rs5967643 -- 85,895,205(+) atctc(A/C/G)gctca intron-variant
rs10628887 -- 85,960,453(+) TCTCT(-/CT)GCTGC intron-variant
rs66861133 -- 86,039,320(+) AACTT(-/TA)TTTCT intron-variant
rs67361313 -- 85,981,209(+) TCTAT(-/TTCT)ATATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHM Gene

Variant ID Type Subtype PubMed ID
esv2740276 CNV Deletion 23290073
nsv519786 CNV Gain 19592680
nsv438141 CNV Loss 16468122
esv2740277 CNV Deletion 23290073
nsv510545 CNV Loss 20534489

Relevant External Links for CHM Gene

HapMap Linkage Disequilibrium report
CHM
Human Gene Mutation Database (HGMD)
CHM
Locus Specific Mutation Databases (LSDB)
CHM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHM Gene

Disorders for CHM Gene

(1) OMIM Diseases for CHM Gene (300390)

UniProtKB/Swiss-Prot

RAE1_HUMAN
  • 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:0000269 PubMed:19427510, ECO:0000269 PubMed:21905166, ECO:0000269 PubMed:7951216}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CHM Gene

(7) Novoseek inferred disease relationships for CHM Gene

Disease -log(P) Hits PubMed IDs
choroideremia 99.1 52
retinal degeneration 55.2 5
blindness 52.8 2
retinitis pigmentosa 52.3 1
eye diseases 44.9 3

Genatlas disease for CHM Gene

choroideremia

Relevant External Links for CHM

GeneTests
CHM
GeneReviews
CHM
Genetic Association Database (GAD)
CHM
genes like me logo Genes that share disorders with CHM: view

Publications for CHM Gene

  1. Rab escort protein-1 is a multifunctional protein that accompanies newly prenylated rab proteins to their target membranes. (PMID: 7957092) Alexandrov K. … Zerial M. (EMBO J. 1994) 3 4 23
  2. The functional effect of pathogenic mutations in Rab escort protein 1. (PMID: 19427510) Sergeev Y.V. … Macdonald I.M. (Mutat. Res. 2009) 3 4 23
  3. Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data. (PMID: 19376587) Preising M.N. … Lorenz B. (Ophthalmology 2009) 3 23
  4. Choroideremia: new findings from ocular pathology and review of recent literature. (PMID: 19422966) MacDonald I.M. … Chan C.C. (Surv Ophthalmol 2009) 3 23
  5. Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation. (PMID: 19597113) Renner A.B. … Kellner U. (Arch. Ophthalmol. 2009) 3 23

Products for CHM Gene

Sources for CHM Gene

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