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Aliases for CHML Gene

Aliases for CHML Gene

  • CHM Like, Rab Escort Protein 2 2 3 5
  • Choroideremia-Like (Rab Escort Protein 2) 2 3
  • Choroideremia-Like Protein 3 4
  • REP2 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

Previous GeneCards Identifiers for CHML Gene

  • GC01M239882
  • GC01M237250
  • GC01M238093
  • GC01M238838
  • GC01M238122
  • GC01M239858
  • GC01M241792
  • GC01M212250

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 (CHM Like, Rab Escort Protein 2) is a Protein Coding gene. Diseases associated with CHML include Choroideremia and Usher Syndrome Type Ii. Among its related pathways are Vesicle-mediated transport and Metabolism of proteins. GO annotations related to this gene include GTPase activator activity and Rab geranylgeranyltransferase activity. An important paralog of this gene is CHM.

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

Regulatory Elements for CHML Gene

Enhancers for CHML Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F241603 1.7 FANTOM5 Ensembl ENCODE 26.1 +31.8 31759 10.5 PKNOX1 ATF1 ARNT ZFP64 SIN3A YBX1 YY1 ZNF766 GATA2 FOS KMO CHML WDR64 OPN3 GC01M241589 LOC105373233
GH01F241615 1 Ensembl ENCODE 22.4 +24.6 24597 0.8 SOX13 ZNF792 SAP130 SIN3A ZNF384 ZNF644 RAD21 TEAD3 YY1 POLR2A CHML GC01M241589 LOC105373233
GH01F241530 1.8 FANTOM5 Ensembl ENCODE 11.7 +106.2 106245 6.3 PKNOX1 ARNT CREB3L1 SIN3A YY1 ZNF766 KLF13 JUNB REST TBX21 KMO CHML LOC105373233
GH01F241589 1 Ensembl ENCODE 16.6 +48.1 48056 5.6 ELF3 BCOR CTCF JUN BRCA1 RFX5 GATA3 CTBP1 FOS TCF7L2 CHML LOC105373233 GC01M241589
GH01F241636 1.1 ENCODE 15 +0.3 291 6.0 PKNOX1 ARID4B SIN3A ZNF2 YY1 FOS KLF13 SP3 MXD4 SMARCB1 RPL23AP20 BECN2 CHML OPN3 RFKP1 GC01M241629
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CHML on UCSC Golden Path with GeneCards custom track

Promoters for CHML Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001041299 754 3001 PKNOX1 ARID4B SIN3A ZNF2 YY1 KLF13 SP3 MXD4 SMARCB1 ZFP41

Genomic Location for CHML Gene

Chromosome:
1
Start:
241,628,853 bp from pter
End:
241,640,254 bp from pter
Size:
11,402 bases
Orientation:
Minus strand

Genomic View for CHML Gene

Genes around CHML on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHML Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHML Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for CHML Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CHML Gene

No data available for DME Specific Peptides for CHML Gene

Domains & Families for CHML Gene

Suggested Antigen Peptide Sequences for CHML Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P26374

UniProtKB/Swiss-Prot:

RAE2_HUMAN :
  • Belongs to the Rab GDI family.
Family:
  • Belongs to the Rab GDI family.
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:0005092 GDP-dissociation inhibitor activity IEA --
GO:0005096 GTPase activator activity IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0017137 Rab GTPase binding IPI 15186776
genes like me logo Genes that share ontologies with CHML: view
genes like me logo Genes that share phenotypes with CHML: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHML gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1
mitochondrion 1
peroxisome 1
lysosome 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 IEA,IMP 12356470
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CHML: view

Pathways & Interactions for CHML Gene

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

Pathways by source for CHML Gene

Gene Ontology (GO) - Biological Process for CHML Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0018344 protein geranylgeranylation IEA,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 SIGNOR curated interactions for CHML Gene

Transcripts for CHML Gene

Unigene Clusters for CHML Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for CHML Gene

Protein differential expression in normal tissues from HIPED for CHML Gene

This gene is overexpressed in Fetal Brain (38.8), Frontal cortex (17.6), and Testis (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CHML Gene



Protein tissue co-expression partners for CHML Gene

NURSA nuclear receptor signaling pathways regulating expression of CHML Gene:

CHML

SOURCE GeneReport for Unigene cluster for CHML Gene:

Hs.654545
genes like me logo Genes that share expression patterns with CHML: view

Primer Products

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 CHML Gene

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 34
  • 99.39 (n)
dog
(Canis familiaris)
Mammalia CHML 34
  • 88.51 (n)
cow
(Bos Taurus)
Mammalia CHML 34 35
  • 85.9 (n)
mouse
(Mus musculus)
Mammalia Chml 34 16 35
  • 82.88 (n)
rat
(Rattus norvegicus)
Mammalia Chml 34
  • 80.78 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 69 (a)
ManyToMany
-- 35
  • 57 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 62 (a)
ManyToMany
-- 35
  • 57 (a)
ManyToMany
chicken
(Gallus gallus)
Aves CHM 35
  • 66 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 64 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii chm 34 35
  • 58.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rep 36 35
  • 33 (a)
worm
(Caenorhabditis elegans)
Secernentea rep-1 34 35
  • 46.71 (n)
Y67D2.1 36
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GDI1 35
  • 25 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons REP 34
  • 46.71 (n)
rice
(Oryza sativa)
Liliopsida Os01g0269100 34
  • 45.82 (n)
Species where no ortholog for CHML was found in the sources mined by GeneCards:
  • 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

(1) 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

Sequence variations from dbSNP and Humsavar for CHML Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1062226 -- 241,629,884(-) AACAT(C/G)CTATT intron-variant, utr-variant-3-prime
rs111635573 -- 241,635,316(+) TTCGT(C/T)GCTAT intron-variant, reference, missense
rs111996330 -- 241,632,159(+) TCACG(A/G)TATCT intron-variant, utr-variant-3-prime
rs112169514 -- 241,635,756(+) GAAGA(A/C/T)TGTCC intron-variant, reference, missense
rs112418428 -- 241,631,596(+) TCACA(C/T)ATAGA intron-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv549460 CNV gain 21841781
nsv1002214 CNV gain 25217958

Variation tolerance for CHML Gene

Residual Variation Intolerance Score: 34.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.76; 47.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHML Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHML

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

Disorders for CHML Gene

MalaCards: The human disease database

(2) MalaCards diseases for CHML Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
choroideremia
  • progressive choroidal atrophy
usher syndrome type ii
  • ush2
- elite association - COSMIC cancer census association via MalaCards
Search CHML in MalaCards View complete list of genes associated with diseases

Relevant External Links for CHML

Genetic Association Database (GAD)
CHML
Human Genome Epidemiology (HuGE) Navigator
CHML
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHML
genes like me logo Genes that share disorders with CHML: view

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

Publications for CHML Gene

  1. Cloning and characterization of the human choroideremia gene. (PMID: 7981670) van Bokhoven H. … Cremers F.P. (Hum. Mol. Genet. 1994) 2 3 22 64
  2. 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 22 64
  3. Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis. (PMID: 19626040) McCauley J.L. … Haines J.L. (Genes Immun. 2009) 3 46 64
  4. Identification of a novel asthma susceptibility gene on chromosome 1qter and its functional evaluation. (PMID: 18344558) White J.H. … Pillai S.G. (Hum. Mol. Genet. 2008) 3 46 64
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64

Products for CHML Gene

Sources for CHML Gene

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