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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 in... See more...
Aliases for CHM Gene
Aliases for CHM Gene
External Ids for CHM Gene
- HGNC: 1940
- NCBI Entrez Gene: 1121
- Ensembl: ENSG00000188419
- OMIM®: 300390
- UniProtKB/Swiss-Prot: P24386
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
-
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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
GeneCards Summary for CHM Gene
CHM (CHM Rab Escort Protein) is a Protein Coding gene. Diseases associated with CHM include Choroideremia and Fundus Dystrophy. Among its related pathways are Vesicle-mediated transport and Gene Expression. Gene Ontology (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 Summary 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.
Additional gene information for CHM Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHM Gene
Genomics for CHM Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CHM Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CHM on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHM
- Top Transcription factor binding sites by QIAGEN in the CHM gene promoter:
-
- AML1a
Genomic Locations for CHM Gene
Latest Assembly
- chrX:85,861,180-86,047,561
- (GRCh38/hg38)
- Size:
- 186,382 bases
- Orientation:
- Minus strand
Previous Assembly
- chrX:85,116,185-85,302,562
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 186,378 bases
- Orientation:
- Minus strand
Genomic View for CHM Gene
Genes around CHM on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xq21.2 by HGNC
- Xq21.2 by Entrez Gene
- Xq21.2 by Ensembl
CHM Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- A1L4D2
- O43732
Protein attributes for CHM Gene
- Size:
- 653 amino acids
- Molecular mass:
- 73476 Da
- Quaternary structure:
-
- Monomer (By similarity). 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 (PubMed:21905166). 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 (PubMed:18532927). Interacts with RAB1A, RAB1B, RAB5A, RAB7A and RAB27A and mediates their prenylation (PubMed:7957092). Interacts with the non-phosphorylated forms of RAB3A, RAB3B, RAB3C, RAB3D, RAB5B, RAB5C, RAB8A, RAB8B, RAB10, RAB12, RAB35, and RAB43 (PubMed:26824392, PubMed:29125462).
Protein Expression for CHM Gene
Post-translational modifications for CHM Gene
Other Protein References for CHM Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences CHM / REP1 Antibody
- NSJ Bioreagents CHM Antibody / Choroideremia protein
-
Custom Antibody ServicesOriGene Antibodies for CHM
- Novus Biologicals Antibodies for CHM
-
Abcam antibodies for CHM
- Invitrogen Antibodies for CHM (AFLGC-CHM)
-
Biorbyt antibodies for CHM
-
Custom Antibody ServicesProSci Antibodies for CHM
-
Santa Cruz Biotechnology (SCBT) Antibodies for CHM
Protein products for research
-
OriGene Purified Proteins for CHM
- Search Origene for MassSpec and Protein Over-expression Lysates for CHM
- Origene Custom Protein Services for CHM
- Novus Biologicals proteins for CHM
- antibodies-online: Show 4 available CHM Proteins ranked by validation data
- Compare Top CHM Proteins
-
Abcam proteins for CHM
Assay products for research
- antibodies-online: Search results for available CHM related products ranked by validation data
No data available for DME Specific Peptides for CHM Gene
Domains & Families for CHM Gene
Gene Families for CHM Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for CHM Gene
- InterPro:
- Blocks:
-
- Rab escort (choroideraemia) protein signature
Suggested Antigen Peptide Sequences for CHM Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ58404, highly similar to Rab proteins geranylgeranyltransferase component A 1 (B4DRL9_HUMAN)
- cDNA FLJ38564 fis, clone HCHON2004359 (Q8N917_HUMAN)
- TCD protein (RAE1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P24386- Family:
-
- Belongs to the Rab GDI family.
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.
Phenotypes From GWAS Catalog for CHM Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004663 | Rab geranylgeranyltransferase activity | TAS | 8380507 |
| GO:0005092 | GDP-dissociation inhibitor activity | IEA | -- |
| GO:0005096 | GTPase activator activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 21905166 |
| GO:0031267 | small GTPase binding | IPI | 7957092 |
Phenotypes for CHM Gene
- MGI mutant phenotypes for CHM:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for CHM:
Animal Models for CHM Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CHM - Starting at $85 >
- * CHM CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CHM
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHM
miRNA for CHM Gene
- miRTarBase miRNAs that target CHM
-
- hsa-miR-215-5p (MIRT024694)
- hsa-miR-192-5p (MIRT026666)
- hsa-miR-26b-5p (MIRT029824)
- mmu-miR-92b-3p (MIRT595801)
- mmu-miR-367-3p (MIRT595802)
- mmu-miR-25-3p (MIRT595803)
- mmu-miR-32-5p (MIRT595804)
- mmu-miR-92a-3p (MIRT595805)
- mmu-miR-363-3p (MIRT595806)
- mmu-miR-767 (MIRT595807)
- mmu-miR-770-5p (MIRT595808)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHM
- Browse OriGene Inhibitory RNA Products For CHM
Clone products for research
- Applied Biological Materials (abm): Clones for CHM - Starting at $45 >
- * CHM as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG209882
- MG217376
- MR209882
- MR209882L3
- MR209882L4
- MR217376
- MR217376L3
- MR217376L4
- RC213610
- RC213610L3
- RC213610L4
- RC227117
- RC227117L3
- RC227117L4
- RG213610
- RG227117
- RR200820
- RR200820L3
- RR200820L4
- MR209882L3V
- MR209882L4V
- MR217376L3V
- MR217376L4V
- RC213610L3V
- RC213610L4V
- RC227117L3V
- RC227117L4V
- RR200820L3V
- RR200820L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CHM
Cell Lines for research
-
Horizon Cell Lines for CHM
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CHM Gene
Localization for CHM Gene
Subcellular locations from UniProtKB/Swiss-Prot for CHM Gene
- Cytoplasm, cytosol.
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| cytosol | 4 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
- Nucleoplasm (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA | 21873635 |
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005968 | Rab-protein geranylgeranyltransferase complex | TAS,IDA | 7957092 |
Pathways & Interactions for CHM Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Gene Expression |
.48
|
|
| 2 | Vesicle-mediated transport | ||
| 3 | Metabolism of proteins | ||
| 4 | TP53 Regulates Transcription of Cell Death Genes | ||
| 5 | RAB GEFs exchange GTP for GDP on RABs | ||
Pathways by source for CHM Gene
11 Reactome pathways for CHM Gene
Interacting Proteins for CHM Gene
Selected Interacting proteins:
P24386-RAE1_HUMAN
ENSP00000350386
for CHM Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for CHM
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006612 | protein targeting to membrane | IMP | 7957092 |
| GO:0006886 | intracellular protein transport | IEA | -- |
| GO:0007264 | small GTPase mediated signal transduction | IEA | -- |
| GO:0007601 | visual perception | TAS,IEA | -- |
| GO:0016192 | vesicle-mediated transport | IBA | 21873635 |
No data available for SIGNOR curated interactions for CHM Gene
Transcripts for CHM Gene
mRNA/cDNA for CHM Gene
- 7 REFSEQ mRNAs :
- 19 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000357749 5438 nts (view in UCSC)
- ENST00000467744 2040 nts (view in UCSC)
- ENST00000483950 678 nts (view in UCSC)
- ENST00000487515 309 nts (view in UCSC)
- ENST00000615443 2821 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CHM - Starting at $85 >
- * CHM CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CHM
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHM
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHM
- Browse OriGene Inhibitory RNA Products For CHM
Clone products for research
- Applied Biological Materials (abm): Clones for CHM - Starting at $45 >
- * CHM as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG209882
- MG217376
- MR209882
- MR209882L3
- MR209882L4
- MR217376
- MR217376L3
- MR217376L4
- RC213610
- RC213610L3
- RC213610L4
- RC227117
- RC227117L3
- RC227117L4
- RG213610
- RG227117
- RR200820
- RR200820L3
- RR200820L4
- MR209882L3V
- MR209882L4V
- MR217376L3V
- MR217376L4V
- RC213610L3V
- RC213610L4V
- RC227117L3V
- RC227117L4V
- RR200820L3V
- RR200820L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CHM
| 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
Expression for CHM Gene
This gene is overexpressed in Frontal cortex (8.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CHM Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHM
SOURCE GeneReport for Unigene cluster for CHM Gene:
Hs.496449Evidence on tissue expression from TISSUES for CHM Gene
- Nervous system(4.8)
- Eye(4.5)
- Liver(4.3)
- Skin(2.3)
- Blood(2.1)
- Pancreas(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CHM Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
Regions:
Head and neck:
- brain
- cranial nerve
- eye
- head
General:
- peripheral nervous system
Primer products for research
-
OriGene qPCR primer pairs for CHM
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CHM 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CHM 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CHM 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Chm 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Chm 29 16 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 30 |
|
ManyToMany | |
| -- 30 |
|
ManyToMany | |||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
ManyToMany | |
| -- 30 |
|
ManyToMany | |||
| Chicken (Gallus gallus) |
Aves | CHM 29 30 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 30 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | chml 29 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68578 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | chm 30 |
|
OneToMany | |
| Dr.17040 29 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.635 29 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010419 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Rep 29 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | rep-1 30 |
|
OneToMany | |
| Y67D2.1 31 |
|
|
|||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GDI1 30 |
|
OneToMany |
- Species where no ortholog for CHM was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for CHM: view image
- Alliance of Genome Resources:
- Additional Orthologs for CHM
Paralogs for CHM Gene
Variants for CHM Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHM Gene
| SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1008606 | Uncertain Significance: not provided | 85,978,800(-) |
G/C NM_000390.4(CHM):c.281C>G (p.Thr94Ser) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
| 1010753 | Uncertain Significance: not provided | 86,027,508(-) |
T/A NM_000390.4(CHM):c.99A>T (p.Arg33Ser) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
| 1011961 | Uncertain Significance: not provided | 85,864,825(-) |
G/A NM_000390.4(CHM):c.1771-4C>T |
INTRON | |
| 1020967 | Uncertain Significance: not provided | 85,878,962(-) |
T/A NM_000390.4(CHM):c.1609+3A>T |
INTRON | |
| 1024784 | Uncertain Significance: not provided | 85,963,976(-) |
T/C NM_000390.4(CHM):c.391A>G (p.Thr131Ala) |
MISSENSE_VARIANT,FIVE_PRIME_UTR |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2326e212 | CNV | gain | 25503493 |
| dgv2327e212 | CNV | gain | 25503493 |
| dgv2328e212 | CNV | loss | 25503493 |
| esv2740276 | CNV | deletion | 23290073 |
| esv2740277 | CNV | deletion | 23290073 |
| esv3574139 | CNV | loss | 25503493 |
| esv3574140 | CNV | loss | 25503493 |
| esv3574145 | CNV | loss | 25503493 |
| esv3576956 | CNV | gain | 25503493 |
| esv3576967 | CNV | gain | 25503493 |
| nsv438141 | CNV | loss | 16468122 |
| nsv510545 | OTHER | sequence alteration | 20534489 |
| nsv519786 | CNV | gain | 19592680 |
Residual Variation Intolerance Score:
54.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.69;
46.19% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CHM Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHM Gene
Disorders for CHM Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| choroideremia |
|
|
| fundus dystrophy |
|
|
| cone-rod dystrophy 2 |
|
|
| retinitis pigmentosa |
|
|
| eye disease |
|
|
Search CHM in MalaCards
View complete list of genes associated with diseases
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 variants affecting the gene represented in this entry.
Genatlas disease for CHM Gene
choroideremia
Additional Disease Information for CHM
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
Publications for CHM Gene
- The functional effect of pathogenic mutations in Rab escort protein 1. (PMID: 19427510) Sergeev YV … Macdonald IM (Mutation research 2009) 3 4 22
- Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. (PMID: 16936131) Jacobson SG … MacDonald IM (Investigative ophthalmology & visual science 2006) 3 22 72
- Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. (PMID: 12827496) van den Hurk JA … Cremers FP (Human genetics 2003) 3 22 72
- Rab escort protein-1 is a multifunctional protein that accompanies newly prenylated rab proteins to their target membranes. (PMID: 7957092) Alexandrov K … Zerial M (The EMBO journal 1994) 3 4 22
- Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing. (PMID: 1598901) van den Hurk JA … Wieringa B (American journal of human genetics 1992) 3 4 72
ExternalLinks
Products for CHM Gene
- Custom Antibody ServicesOriGene Antibodies for CHM
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CHM
- Search Origene for MassSpec and Protein Over-expression Lysates for CHM
- Origene Custom Protein Services for CHM
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHM
- Browse OriGene Inhibitory RNA Products For CHM
- OriGene qPCR primer pairs for CHM
- OriGene CRISPR knockouts for CHM
- MG209882
- MG217376
- MR209882
- MR209882L3
- MR209882L4
- MR217376
- MR217376L3
- MR217376L4
- RC213610
- RC213610L3
- RC213610L4
- RC227117
- RC227117L3
- RC227117L4
- RG213610
- RG227117
- RR200820
- RR200820L3
- RR200820L4
- MR209882L3V
- MR209882L4V
- MR217376L3V
- MR217376L4V
- RC213610L3V
- RC213610L4V
- RC227117L3V
- RC227117L4V
- RR200820L3V
- RR200820L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- antibodies-online: Show 69 available CHM Antibodies ranked by validation data
- Compare Top CHM Antibodies
- antibodies-online: Search results for available CHM related products ranked by validation data
- antibodies-online: Show 4 available CHM Proteins ranked by validation data
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- Biorbyt antibodies for CHM
Sources for CHM Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources