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The protein encoded by this gene belongs to the short-chain dehydrogenases/reductases (SDR) family, which function as NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds, such as quinones, prostaglandins, and various xenobiotics. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013]
CBR1 (Carbonyl Reductase 1) is a Protein Coding gene. Diseases associated with CBR1 include Down Syndrome and Depersonalization Disorder. Among its related pathways are Arachidonic acid metabolism and Drug metabolism - cytochrome P450. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and carbonyl reductase (NADPH) activity. An important paralog of this gene is CBR3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004090 | carbonyl reductase (NADPH) activity | TAS,IDA | 18449627 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0016655 | oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor | IDA | 19442656 |
GO:0047020 | 15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity | IEA | -- |
GO:0047021 | 15-hydroxyprostaglandin dehydrogenase (NADP+) activity | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0070062 | extracellular exosome | HDA | 19056867 |
GO:1903561 | extracellular vesicle | HDA | 24769233 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Drug metabolism - cytochrome P450 | ||
2 | Metabolism |
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3 | Arachidonic acid metabolism | ||
4 | Linoleic acid metabolism | ||
5 | Folate biosynthesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0017144 | drug metabolic process | IDA | 18449627 |
GO:0019371 | cyclooxygenase pathway | TAS | -- |
GO:0030855 | epithelial cell differentiation | IEP | 21492153 |
GO:0042373 | vitamin K metabolic process | IDA | 18449627 |
GO:0055114 | oxidation-reduction process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Doxorubicin | Approved, Investigational | Pharma | Enzyme, substrate | Topo II inhibitor,immunosuppresive antineoplastic antibiotic | 2086 | |
Acetohexamide | Approved, Investigational, Withdrawn | Pharma | Enzyme, substrate | 5 | ||
Haloperidol | Approved | Pharma | Enzyme, substrate | Antipsychotic drug | 173 | |
Lubiprostone | Approved, Investigational | Pharma | Enzyme, substrate | 49 | ||
Curcumin | Approved, Experimental, Investigational | Pharma | Target | Tyrosinase inhibitor | 240 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
(13E)-11a-Hydroxy-9,15-dioxoprost-13-enoic acid |
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22973-19-9 |
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1-Oxo-1H-2-benzopyran-3-carboxaldehyde |
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34328-51-3 |
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2-(dimethylamino)acetaldehyde |
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2-(methylamino)acetaldehyde |
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2-benzylheptanal |
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Compound | Action | Cas Number |
---|---|---|
N6022 | GSNOR inhibitor | 1208315-24-5 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||
SP2: | - | ||||||||||||||||||
SP3: | - | - | |||||||||||||||||
SP4: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CBR1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
CBR1 30 |
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MGC127133 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
LOC610164 30 |
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-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Cbr1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cbr1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | CBR1 30 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cbr3 30 |
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Str.11980 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | Xl.21423 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | cbr1 30 31 |
|
OneToMany | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9689 30 |
|
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Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G61830 30 |
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Rice (Oryza sativa) |
Liliopsida | Os01g0929500 30 |
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Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1580 30 |
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SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs146758729 | Likely Benign: not provided | 36,072,631(+) |
G/A NM_001757.4(CBR1):c.583G>A (p.Gly195Arg) |
MISSENSE_VARIANT,THREE_PRIME_UTR | |
rs2230191 | Benign: not provided | 36,072,639(+) |
G/A NM_001757.4(CBR1):c.591G>A (p.Thr197=) |
SYNONYMOUS_VARIANT,THREE_PRIME_UTR | |
rs1143663 | - |
p.Val88Ile |
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rs41557318 | - |
p.Pro131Ser |
Disorder | Aliases | PubMed IDs |
---|---|---|
down syndrome |
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depersonalization disorder |
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constipation |
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