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COMMD1 is a regulator of copper homeostasis, sodium uptake, and NF-kappa-B (see MIM 164011) signaling (de Bie et al., 2005 [PubMed 16267171]).[supplied by OMIM, Sep 2009]
COMMD1 (Copper Metabolism Domain Containing 1) is a Protein Coding gene. Diseases associated with COMMD1 include Wilson Disease and Menkes Disease. Among its related pathways are wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) and HIF Repressor Pathways. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and copper ion binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005507 | copper ion binding | IDA | 17309234 |
GO:0005515 | protein binding | IPI | 12968035 |
GO:0005546 | phosphatidylinositol-4,5-bisphosphate binding | IDA | 18940794 |
GO:0005547 | phosphatidylinositol-3,4,5-trisphosphate binding | IDA | 18940794 |
GO:0008289 | lipid binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 15799966 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA,IDA | 14685266 |
GO:0005768 | endosome | IBA | 21873635 |
GO:0005769 | early endosome | IEA,IDA | 25355947 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of CFTR activity (norm and CF) |
Regulation of CFTR activity (norm and CF)
.38
|
wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
.38
|
2 | HIF Repressor Pathways | ||
3 | wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) |
wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
.33
|
|
4 | Copper homeostasis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006289 | nucleotide-excision repair | IMP | 23144634 |
GO:0006893 | Golgi to plasma membrane transport | IMP | 25355947 |
GO:0015031 | protein transport | IEA | -- |
GO:0016567 | protein ubiquitination | TAS | -- |
GO:0031398 | positive regulation of protein ubiquitination | IBA,IDA | 17183367 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Copper | Approved, Investigational | Pharma | 271 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b |
---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||
SP2: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | COMMD1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | RP23-242C19.7 31 |
|
OneToMany | |
Commd1 30 17 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | COMMD1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | COMMD1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Commd1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | COMMD1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | COMMD1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | COMMD1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | COMMD1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | commd1 30 |
|
||
Str.20197 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.10925 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | commd1 30 31 |
|
OneToOne |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2665284 | CNV | deletion | 23128226 |
esv2670023 | CNV | deletion | 23128226 |
esv2763188 | CNV | loss | 21179565 |
esv3343157 | CNV | duplication | 20981092 |
esv3385104 | CNV | insertion | 20981092 |
esv34000 | CNV | loss | 18971310 |
esv3583850 | CNV | loss | 25503493 |
esv3591029 | CNV | loss | 21293372 |
esv3591031 | CNV | loss | 21293372 |
esv3591032 | CNV | gain | 21293372 |
esv3591033 | CNV | loss | 21293372 |
esv3591034 | CNV | loss | 21293372 |
nsv1003647 | CNV | gain | 25217958 |
nsv1003959 | CNV | loss | 25217958 |
nsv1009446 | CNV | gain | 25217958 |
nsv1010519 | CNV | loss | 25217958 |
nsv1109257 | CNV | deletion | 24896259 |
nsv1134867 | CNV | deletion | 24896259 |
nsv458074 | CNV | gain | 19166990 |
nsv470467 | CNV | gain | 18288195 |
nsv519398 | CNV | loss | 19592680 |
nsv582118 | CNV | gain | 21841781 |
nsv582122 | CNV | gain | 21841781 |
nsv582123 | CNV | gain | 21841781 |
nsv582124 | CNV | loss | 21841781 |
nsv582125 | CNV | loss | 21841781 |
nsv7313 | OTHER | inversion | 18451855 |
nsv961410 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
wilson disease |
|
|
menkes disease |
|
|
peroxisome biogenesis disorder 11a |
|
|
metal metabolism disorder |
|
|
neuroblastoma |
|
|