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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 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]
CHM (CHM Rab Escort Protein) is a Protein Coding gene. Diseases associated with CHM include Choroideremia and Retinitis Pigmentosa. Among its related pathways are Vesicle-mediated transport and Regulation of TP53 Activity. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and Rab geranylgeranyltransferase activity. An important paralog of this gene is CHML.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH0XJ086046 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 757.4 | +0.6 | 561 | 3.2 | E2F8 ZBTB40 SIX5 LCORL SMARCE1 POLR2A USF2 ATF1 CREB1 HCFC1 | CHM lnc-POF1B-2 POF1B piR-48348-101 | |
GH0XJ085992 | Enhancer | 0.8 | Ensembl ENCODE | 20.7 | +53.0 | 52961 | 5.6 | ZNF652 SP7 PRDM1 KLF14 ZNF639 ZEB2 ZNF629 ZNF692 JUN JUND | CHM piR-55194-449 lnc-POF1B-1 lnc-POF1B-2 | |
GH0XJ086023 | Enhancer | 0.6 | FANTOM5 Ensembl | 22.6 | +24.8 | 24761 | 4.4 | HLF CEBPA | CHM KY994054-062 piR-51878-046 lnc-POF1B-2 | |
GH0XJ086001 | Enhancer | 0.7 | ENCODE | 20 | +45.1 | 45077 | 1 | MNT ZNF148 SP5 KAT8 GATAD2A KAT7 FOXK2 SOX13 NFRKB FOXA2 | piR-55194-449 CHM lnc-POF1B-1 lnc-POF1B-2 | |
GH0XJ085922 | Enhancer | 0.6 | Ensembl ENCODE | 8.6 | +124.7 | 124661 | 4.6 | MNT FOS NFATC1 | CHM MIR361 piR-33303-192 lnc-POF1B-2 |
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:0017137 | Rab GTPase binding | IPI | 7957092 |
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 | IDA,TAS | 7957092 |
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 |
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 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||
SP6: | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | CHM 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | CHM 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | CHM 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Chm 32 |
|
||
mouse (Mus musculus) |
Mammalia | Chm 17 33 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | -- 33 |
|
ManyToMany | |
-- 33 |
|
ManyToMany | |||
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
ManyToMany | |
-- 33 |
|
ManyToMany | |||
chicken (Gallus gallus) |
Aves | CHM 33 32 |
|
OneToMany | |
lizard (Anolis carolinensis) |
Reptilia | -- 33 |
|
OneToMany | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | chml 32 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68578 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | chm 33 |
|
OneToMany | |
Dr.17040 32 |
|
||||
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.635 32 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010419 32 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | Rep 33 34 32 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | rep-1 33 |
|
OneToMany | |
Y67D2.1 34 |
|
|
|||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GDI1 33 |
|
OneToMany |
SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1057516265 | likely-pathogenic, Choroideremia | 86,047,532(-) | T/C | 5_prime_UTR_variant, genic_upstream_transcript_variant, initiator_codon_variant, missense_variant, upstream_transcript_variant | |
rs132630263 | pathogenic, Choroideremia | 85,900,700(-) | GG/TC | coding_sequence_variant, genic_downstream_transcript_variant, stop_gained | |
rs132630264 | pathogenic, Choroideremia | 85,894,214(-) | G/T | coding_sequence_variant, genic_downstream_transcript_variant, stop_gained | |
rs132630265 | pathogenic, Choroideremia | 85,894,227(-) | C/A | coding_sequence_variant, genic_downstream_transcript_variant, stop_gained | |
rs132630266 | pathogenic, Choroideremia, not provided | 85,957,918(-) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, stop_gained |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
choroideremia |
|
|
retinitis pigmentosa |
|
|
choroid disease |
|
|
x-linked recessive disease |
|
|
uveal disease |
|
|