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Aliases for CHML Gene

Aliases for CHML Gene

  • Choroideremia-Like (Rab Escort Protein 2) 2 3
  • REP2 3 4 6
  • Choroideremia-Like Protein 3 4
  • Rab Proteins Geranylgeranyltransferase Component A 2 3
  • Choroideraemia-Like Protein 3
  • Rab Escort Protein 2 4
  • REP-2 4

External Ids for CHML Gene

Summaries for CHML Gene

Entrez Gene Summary for CHML Gene

  • The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II. [provided by RefSeq, Jul 2008]

GeneCards Summary for CHML Gene

CHML (Choroideremia-Like (Rab Escort Protein 2)) is a Protein Coding gene. Diseases associated with CHML include choroideremia and usher syndrome. GO annotations related to this gene include GTPase activator activity and Rab geranylgeranyltransferase activity. An important paralog of this gene is GDI2.

UniProtKB/Swiss-Prot for CHML Gene

  • Substrate-binding subunit (component A) of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Less effective than CHM in supporting prenylation of Rab3 family.

Gene Wiki entry for CHML Gene

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

Genomics for CHML Gene

Genomic Location for CHML Gene

Start:
241,628,853 bp from pter
End:
241,635,930 bp from pter
Size:
7,078 bases
Orientation:
Minus strand

Genomic View for CHML Gene

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

RefSeq DNA sequence for CHML Gene

Regulatory Elements for CHML Gene

Proteins for CHML Gene

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

    Protein Symbol:
    P26374-RAE2_HUMAN
    Recommended name:
    Rab proteins geranylgeranyltransferase component A 2
    Protein Accession:
    P26374
    Secondary Accessions:
    • B2RAB9
    • Q17RE0
    • Q9H1Y4

    Protein attributes for CHML Gene

    Size:
    656 amino acids
    Molecular mass:
    74071 Da
    Quaternary structure:
    • Monomer. Heterotrimer composed of RABGGTA, RABGGTB and CHML; within this trimer, RABGGTA and RABGGTB form the catalytic component B, while CHML (component A) mediates Rab protein binding. Interacts with RAB1A, RAB7A and RAB27A, but has much lower affinity for RAB1A, RAB7A and RAB27A than CHM.
    Miscellaneous:
    • Substitutes for REP-1 thereby preventing widespread tissue abnormalities in patients with choroideremia who lack REP-1

neXtProt entry for CHML Gene

Proteomics data for CHML Gene at MOPED

Post-translational modifications for CHML Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CHML Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CHML Gene

Domains for CHML Gene

Protein Domains for CHML Gene

UniProtKB/Swiss-Prot:

RAE2_HUMAN
Family:
  • Belongs to the Rab GDI family.:
    • P26374
genes like me logo Genes that share domains with CHML: view

No data available for Gene Families for CHML Gene

Function for CHML Gene

Molecular function for CHML Gene

GENATLAS Biochemistry: Rab escort protein-2 activating geranylgeranyltransferase A (prenylating C terminus of RAB (signal transduction)
UniProtKB/Swiss-Prot Function: Substrate-binding subunit (component A) of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Less effective than CHM in supporting prenylation of Rab3 family.

Gene Ontology (GO) - Molecular Function for CHML Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004663 Rab geranylgeranyltransferase activity --
GO:0005096 GTPase activator activity IEA --
GO:0017137 Rab GTPase binding IPI 15186776
genes like me logo Genes that share ontologies with CHML: view

Phenotypes for CHML Gene

genes like me logo Genes that share phenotypes with CHML: view

miRNA for CHML Gene

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

Localization for CHML Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHML Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHML Gene COMPARTMENTS Subcellular localization image for CHML gene
Compartment Confidence
cytosol 2
nucleus 2
extracellular 1
lysosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CHML Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol IEA --
GO:0005968 Rab-protein geranylgeranyltransferase complex IMP 12356470
genes like me logo Genes that share ontologies with CHML: view

Pathways for CHML Gene

SuperPathways for CHML Gene

No Data Available

Gene Ontology (GO) - Biological Process for CHML Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0018344 protein geranylgeranylation IMP 12356470
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with CHML: view

No data available for Pathways by source for CHML Gene

Transcripts for CHML Gene

mRNA/cDNA for CHML Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(100) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CHML Gene

Choroideremia-like (Rab escort protein 2):
Representative Sequences:

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

No ASD Table

Relevant External Links for CHML Gene

GeneLoc Exon Structure for
CHML
ECgene alternative splicing isoforms for
CHML

Expression for CHML Gene

mRNA expression in normal human tissues for CHML Gene

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

SOURCE GeneReport for Unigene cluster for CHML Gene Hs.654545

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

Orthologs for CHML Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CHML Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHML 36
  • 99.39 (n)
  • 99.24 (a)
cow
(Bos Taurus)
Mammalia CHML 36
  • 85.9 (n)
  • 82 (a)
CHML 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHML 36
  • 88.51 (n)
  • 85.85 (a)
mouse
(Mus musculus)
Mammalia Chml 36
  • 82.88 (n)
  • 79.97 (a)
Chml 16
Chml 37
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 57 (a)
ManyToMany
-- 37
  • 69 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 57 (a)
ManyToMany
-- 37
  • 62 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Chml 36
  • 80.78 (n)
  • 78.68 (a)
chicken
(Gallus gallus)
Aves CHM 37
  • 66 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 64 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii chm 36
  • 58.88 (n)
  • 57.28 (a)
chm 37
  • 52 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rep 37
  • 35 (a)
OneToMany
Rep 38
  • 33 (a)
worm
(Caenorhabditis elegans)
Secernentea rep-1 36
  • 46.71 (n)
  • 38.36 (a)
rep-1 37
  • 34 (a)
OneToMany
Y67D2.1 38
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GDI1 37
  • 25 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons REP 36
  • 46.71 (n)
  • 33.64 (a)
rice
(Oryza sativa)
Liliopsida Os01g0269100 36
  • 45.82 (n)
  • 39.93 (a)
Species with no ortholog for CHML:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CHML Gene

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

Paralogs for CHML Gene

Paralogs for CHML Gene

Selected SIMAP similar genes for CHML Gene using alignment to 1 proteins:

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

Variants for CHML Gene

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

Variant ID Type Subtype PubMed ID
nsv873368 CNV Gain 21882294
nsv873372 CNV Gain 21882294

Relevant External Links for CHML Gene

HapMap Linkage Disequilibrium report
CHML

No data available for Sequence variations from dbSNP and Humsavar for CHML Gene

Disorders for CHML Gene

(1) University of Copenhagen DISEASES for CHML Gene

(1) Novoseek inferred disease relationships for CHML Gene

Disease -log(P) Hits PubMed IDs
choroideremia 93.8 1

Relevant External Links for CHML

Genetic Association Database (GAD)
CHML
Human Genome Epidemiology (HuGE) Navigator
CHML
genes like me logo Genes that share disorders with CHML: view

No data available for UniProtKB/Swiss-Prot for CHML Gene

Publications for CHML Gene

  1. REP-2, a Rab escort protein encoded by the choroideremia-like gene. (PMID: 8294464) Cremers F.P.M. … Goldstein J.L. (J. Biol. Chem. 1994) 3 4 23
  2. Cloning and characterization of the human choroideremia gene. (PMID: 7981670) van Bokhoven H. … Cremers F.P. (Hum. Mol. Genet. 1994) 2 3 23
  3. Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II. (PMID: 8188272) von Bokhoven H. … Ropers H.H. (Genomics 1994) 3 23
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. Different structural organization of the encephalopsin gene in man and mouse. (PMID: 12242008) Kasper G. … Rump A. (Gene 2002) 3 4

Products for CHML Gene

Sources for CHML Gene

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