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] See more...

Aliases for CBR1 Gene

Aliases for CBR1 Gene

  • Carbonyl Reductase 1 2 3 5
  • SDR21C1 2 3 4
  • Short Chain Dehydrogenase/Reductase Family 21C Member 1 3 4
  • 20-Beta-Hydroxysteroid Dehydrogenase 3 4
  • NADPH-Dependent Carbonyl Reductase 1 3 4
  • Prostaglandin-E(2) 9-Reductase 3 4
  • Prostaglandin 9-Ketoreductase 3 4
  • Carbonyl Reductase [NADPH] 1 3 4
  • EC 1.1.1.184 4 50
  • PG-9-KR 3 4
  • CBR 3 4
  • Short Chain Dehydrogenase/Reductase Family 21C, Member 1 2
  • 15-Hydroxyprostaglandin Dehydrogenase [NADP(+)] 4
  • Epididymis Secretory Sperm Binding Protein 3
  • 15-Hydroxyprostaglandin Dehydrogenase 3
  • Carbonyl Reductase (NADPH) 1 3
  • EC 1.1.1.196 4
  • EC 1.1.1.197 4
  • EC 1.1.1.189 4
  • HCBR1 3
  • CBR1 5
  • CRN 4

External Ids for CBR1 Gene

Previous HGNC Symbols for CBR1 Gene

  • CBR

Previous GeneCards Identifiers for CBR1 Gene

  • GC21P034019
  • GC21P036362
  • GC21P036364
  • GC21P037442
  • GC21P022920

Summaries for CBR1 Gene

Entrez Gene Summary for CBR1 Gene

  • 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]

GeneCards Summary for CBR1 Gene

CBR1 (Carbonyl Reductase 1) is a Protein Coding gene. Diseases associated with CBR1 include Down Syndrome and Depersonalization Disorder. Among its related pathways are Drug metabolism - cytochrome P450 and Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and carbonyl reductase (NADPH) activity. An important paralog of this gene is CBR3.

UniProtKB/Swiss-Prot Summary for CBR1 Gene

  • NADPH-dependent reductase with broad substrate specificity. Catalyzes the reduction of a wide variety of carbonyl compounds including quinones, prostaglandins, menadione, plus various xenobiotics. Catalyzes the reduction of the antitumor anthracyclines doxorubicin and daunorubicin to the cardiotoxic compounds doxorubicinol and daunorubicinol (PubMed:18449627, PubMed:15799708, PubMed:17912391, PubMed:7005231). Can convert prostaglandin E to prostaglandin F2-alpha (By similarity). Can bind glutathione, which explains its higher affinity for glutathione-conjugated substrates. Catalyzes the reduction of S-nitrosoglutathione (PubMed:18826943, PubMed:17344335).

Gene Wiki entry for CBR1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CBR1 Gene

Genomics for CBR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CBR1 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 CBR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CBR1

Top Transcription factor binding sites by QIAGEN in the CBR1 gene promoter:
  • AML1a
  • ARP-1
  • c-Myc
  • FOXD3
  • Ik-3
  • Max
  • NF-E2
  • NF-E2 p45
  • Olf-1
  • RelA

Genomic Locations for CBR1 Gene

Latest Assembly
chr21:36,069,941-36,073,166
(GRCh38/hg38)
Size:
3,226 bases
Orientation:
Plus strand

Previous Assembly
chr21:37,442,322-37,445,462
(GRCh37/hg19 by Entrez Gene)
Size:
3,141 bases
Orientation:
Plus strand

chr21:37,442,239-37,445,464
(GRCh37/hg19 by Ensembl)
Size:
3,226 bases
Orientation:
Plus strand

Genomic View for CBR1 Gene

Genes around CBR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CBR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CBR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CBR1 Gene

Proteins for CBR1 Gene

  • Protein details for CBR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16152-CBR1_HUMAN
    Recommended name:
    Carbonyl reductase [NADPH] 1
    Protein Accession:
    P16152
    Secondary Accessions:
    • B2RBZ7
    • B4DFK7
    • Q3LHW8

    Protein attributes for CBR1 Gene

    Size:
    277 amino acids
    Molecular mass:
    30375 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for CBR1 Gene

    Alternative splice isoforms for CBR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CBR1 Gene

Selected DME Specific Peptides for CBR1 Gene

P16152:
  • AEGPHGQFV
  • NACCPGWVRTDM
  • GTRDVCTELLPL
  • AAVQQLQAEGLSP
  • TPFHIQAEVTMKTNF
  • KFVEDTK
  • QSIRALRDFL

Post-translational modifications for CBR1 Gene

  • Ubiquitination at Lys174 and Lys186
  • Modification sites at PhosphoSitePlus

Other Protein References for CBR1 Gene

Domains & Families for CBR1 Gene

Gene Families for CBR1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CBR1 Gene

InterPro:
Blocks:
  • Short-chain dehydrogenase/reductase SDR
  • Glucose/ribitol dehydrogenase family signature

Suggested Antigen Peptide Sequences for CBR1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60474, highly similar to Carbonyl reductase (B4DFK7_HUMAN)
  • Prostaglandin-E(2) 9-reductase (CBR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P16152

UniProtKB/Swiss-Prot:

CBR1_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with CBR1: view

Function for CBR1 Gene

Molecular function for CBR1 Gene

UniProtKB/Swiss-Prot Function:
NADPH-dependent reductase with broad substrate specificity. Catalyzes the reduction of a wide variety of carbonyl compounds including quinones, prostaglandins, menadione, plus various xenobiotics. Catalyzes the reduction of the antitumor anthracyclines doxorubicin and daunorubicin to the cardiotoxic compounds doxorubicinol and daunorubicinol (PubMed:18449627, PubMed:15799708, PubMed:17912391, PubMed:7005231). Can convert prostaglandin E to prostaglandin F2-alpha (By similarity). Can bind glutathione, which explains its higher affinity for glutathione-conjugated substrates. Catalyzes the reduction of S-nitrosoglutathione (PubMed:18826943, PubMed:17344335).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a secondary alcohol + NADP(+) = a ketone + H(+) + NADPH; Xref=Rhea:RHEA:19257, ChEBI:CHEBI:15378, ChEBI:CHEBI:17087, ChEBI:CHEBI:35681, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.184;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=NADP(+) + prostaglandin F2alpha = H(+) + NADPH + prostaglandin E2; Xref=Rhea:RHEA:24508, ChEBI:CHEBI:15378, ChEBI:CHEBI:57404, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:606564; EC=1.1.1.189; Evidence={ECO:0000250|UniProtKB:Q28960};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=NADP(+) + prostaglandin E1 = 15-oxoprostaglandin E1 + H(+) + NADPH; Xref=Rhea:RHEA:11636, ChEBI:CHEBI:15378, ChEBI:CHEBI:57397, ChEBI:CHEBI:57401, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.197; Evidence={ECO:0000269|PubMed:7005231};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + menadione + NADPH = menadiol + NADP(+); Xref=Rhea:RHEA:63492, ChEBI:CHEBI:6746, ChEBI:CHEBI:15378, ChEBI:CHEBI:28869, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence={ECO:0000269|PubMed:17344335};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=NADP(+) + prostaglandin D2 = 15-oxoprostaglandin D2 + H(+) + NADPH; Xref=Rhea:RHEA:20744, ChEBI:CHEBI:15378, ChEBI:CHEBI:57406, ChEBI:CHEBI:57408, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.196; Evidence={ECO:0000250|UniProtKB:Q28960};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=NADP(+) + prostaglandin E2 = 15-oxoprostaglandin E2 + H(+) + NADPH; Xref=Rhea:RHEA:63476, ChEBI:CHEBI:15378, ChEBI:CHEBI:57400, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:606564; Evidence={ECO:0000250|UniProtKB:Q28960};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=NADP(+) + prostaglandin F2alpha = 15-oxoprostaglandin F2alpha + H(+) + NADPH; Xref=Rhea:RHEA:63480, ChEBI:CHEBI:15378, ChEBI:CHEBI:57404, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:133409; Evidence={ECO:0000250|UniProtKB:Q28960};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=daunorubicin + H(+) + NADPH = 13-dihydrodaunorubicin + NADP(+); Xref=Rhea:RHEA:63504, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:64677, ChEBI:CHEBI:75296; Evidence={ECO:0000250|UniProtKB:Q28960};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + NADPH + S-nitrosoglutathione = NADP(+) + sulfinamide glutathione; Xref=Rhea:RHEA:63500, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:145544, ChEBI:CHEBI:145547; Evidence={ECO:0000250|UniProtKB:Q28960};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=30 uM for S-nitrosoglutathione {ECO:0000269|PubMed:17344335, ECO:0000269|PubMed:18826943}; KM=22 uM for menadione {ECO:0000269|PubMed:17344335, ECO:0000269|PubMed:18826943}; KM=309 uM for prostaglandin E2 {ECO:0000269|PubMed:17344335, ECO:0000269|PubMed:18826943}; KM=450 uM for prostaglandin E1 {ECO:0000269|PubMed:7005231}; KM=4 mM for phenylglyoxal {ECO:0000269|PubMed:7005231}; KM=1.6 mM for 4-nitrobenzaldehyde {ECO:0000269|PubMed:7005231}; KM=17 uM for ubiquinone-1 {ECO:0000269|PubMed:7005231}; KM=173 uM for daunorubicin {ECO:0000269|PubMed:17344335, ECO:0000269|PubMed:18826943}; KM=247 uM for NADPH {ECO:0000269|PubMed:17344335, ECO:0000269|PubMed:18826943};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by quercetin, rutenin and its derivatives.
GENATLAS Biochemistry:
carbonyl reductase,NADPH-dependent oxidoreductase,cytosolic,involved in the metabolism of many carbonyl compounds,including antitumor anthracyne antibiotics

Enzyme Numbers (IUBMB) for CBR1 Gene

Phenotypes From GWAS Catalog for CBR1 Gene

Gene Ontology (GO) - Molecular Function for CBR1 Gene

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 --
genes like me logo Genes that share ontologies with CBR1: view
genes like me logo Genes that share phenotypes with CBR1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CBR1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CBR1 Gene

Localization for CBR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CBR1 Gene

Cytoplasm.

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 CBR1 gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CBR1 Gene

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
genes like me logo Genes that share ontologies with CBR1: view

Pathways & Interactions for CBR1 Gene

genes like me logo Genes that share pathways with CBR1: view

Gene Ontology (GO) - Biological Process for CBR1 Gene

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 --
genes like me logo Genes that share ontologies with CBR1: view

No data available for SIGNOR curated interactions for CBR1 Gene

Drugs & Compounds for CBR1 Gene

(34) Drugs for CBR1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Doxorubicin Approved, Investigational Pharma Enzyme, substrate Topo II inhibitor,immunosuppresive antineoplastic antibiotic 2106
Acetohexamide Approved, Investigational, Withdrawn Pharma Enzyme, substrate 5
Haloperidol Approved Pharma Enzyme, substrate Antipsychotic drug 174
Lubiprostone Approved, Investigational Pharma Enzyme, substrate 49
Curcumin Approved, Experimental, Investigational Pharma Target Tyrosinase inhibitor 244

(30) Additional Compounds for CBR1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(13E)-11a-Hydroxy-9,15-dioxoprost-13-enoic acid
  • (13E)-11alpha-Hydroxy-9,15-dioxoprost-13-enoate
  • (13E)-11a-Hydroxy-9,15-dioxoprost-13-enoate
  • (13E)-11alpha-Hydroxy-9,15-dioxoprost-13-enoic acid
  • (13E)-11Α-hydroxy-9,15-dioxoprost-13-enoate
  • (13E)-11Α-hydroxy-9,15-dioxoprost-13-enoic acid
22973-19-9
1-Oxo-1H-2-benzopyran-3-carboxaldehyde
  • 3-Formylisocoumarin
  • Artemidinal
  • Isocoumarin-3-carboxaldehyde
34328-51-3
2-(dimethylamino)acetaldehyde
2-(methylamino)acetaldehyde
2-benzylheptanal

(1) ApexBio Compounds for CBR1 Gene

Compound Action Cas Number
N6022 GSNOR inhibitor 1208315-24-5
genes like me logo Genes that share compounds with CBR1: view

Drug products for research

Transcripts for CBR1 Gene

mRNA/cDNA for CBR1 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CBR1

Alternative Splicing Database (ASD) splice patterns (SP) for CBR1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c
SP1: - - -
SP2: -
SP3: - -
SP4:

Relevant External Links for CBR1 Gene

GeneLoc Exon Structure for
CBR1

Expression for CBR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CBR1 Gene

Protein differential expression in normal tissues from HIPED for CBR1 Gene

This gene is overexpressed in Liver, secretome (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CBR1 Gene



Protein tissue co-expression partners for CBR1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CBR1

SOURCE GeneReport for Unigene cluster for CBR1 Gene:

Hs.88778

mRNA Expression by UniProt/SwissProt for CBR1 Gene:

P16152-CBR1_HUMAN
Tissue specificity: Expressed in kidney (at protein level).

Evidence on tissue expression from TISSUES for CBR1 Gene

  • Nervous system(5)
  • Skin(4.5)
  • Liver(3.4)
  • Kidney(3)
  • Intestine(2.5)
  • Stomach(2.5)
  • Lung(2.5)
  • Heart(2.4)
  • Muscle(2.4)
  • Adrenal gland(2.1)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with CBR1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CBR1 Gene

Orthologs for CBR1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CBR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CBR1 29 30
  • 99.04 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia -- 30
  • 88 (a)
OneToMany
CBR1 29
  • 86.4 (n)
MGC127133 30
  • 78 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 30
  • 88 (a)
OneToMany
LOC610164 29
  • 86.88 (n)
-- 30
  • 79 (a)
OneToMany
-- 30
  • 74 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Cbr1 29 16 30
  • 83.87 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cbr1 29
  • 83.63 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 83 (a)
ManyToMany
-- 30
  • 82 (a)
ManyToMany
-- 30
  • 73 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 77 (a)
OneToMany
Chicken
(Gallus gallus)
Aves CBR1 29 30
  • 72.12 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 77 (a)
ManyToMany
-- 30
  • 75 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cbr3 29
  • 71.83 (n)
Str.11980 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.21423 29
Zebrafish
(Danio rerio)
Actinopterygii cbr1 29 30
  • 64.48 (n)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9689 29
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G61830 29
  • 46.04 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0929500 29
  • 49.62 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1580 29
Species where no ortholog for CBR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CBR1 Gene

ENSEMBL:
Gene Tree for CBR1 (if available)
TreeFam:
Gene Tree for CBR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CBR1: view image
Alliance of Genome Resources:
Additional Orthologs for CBR1

Paralogs for CBR1 Gene

(1) SIMAP similar genes for CBR1 Gene using alignment to 4 proteins:

  • CBR1_HUMAN
  • A8MTM1_HUMAN
  • B4DFK7_HUMAN
  • E9PQ63_HUMAN

Pseudogenes.org Pseudogenes for CBR1 Gene

genes like me logo Genes that share paralogs with CBR1: view

Variants for CBR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CBR1 Gene

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
rs41557318 -- p.Pro131Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CBR1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CBR1 Gene

Variant ID Type Subtype PubMed ID
esv2751927 CNV gain 17911159
nsv459247 CNV loss 19166990
nsv470899 CNV loss 18288195
nsv587461 CNV loss 21841781
nsv964547 CNV deletion 23825009

Variation tolerance for CBR1 Gene

Residual Variation Intolerance Score: 69.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.49; 29.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CBR1 Gene

Human Gene Mutation Database (HGMD)
CBR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CBR1
Leiden Open Variation Database (LOVD)
CBR1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBR1 Gene

Disorders for CBR1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CBR1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
down syndrome
  • trisomy 21
depersonalization disorder
  • neurotic derealization
constipation
- elite association - COSMIC cancer census association via MalaCards
Search CBR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CBR1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CBR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CBR1 Gene

Publications for CBR1 Gene

  1. Pharmacogenetics of human carbonyl reductase 1 (CBR1) in livers from black and white donors. (PMID: 19022938) Gonzalez-Covarrubias V … Blanco JG (Drug metabolism and disposition: the biological fate of chemicals 2009) 3 22 40
  2. Human carbonyl reductase 1 is an S-nitrosoglutathione reductase. (PMID: 18826943) Bateman RL … Shokat KM (The Journal of biological chemistry 2008) 3 4 22
  3. CBR1 and CBR3 pharmacogenetics and their influence on doxorubicin disposition in Asian breast cancer patients. (PMID: 19016765) Lal S … Chowbay B (Cancer science 2008) 3 22 40
  4. Inhibition of polymorphic human carbonyl reductase 1 (CBR1) by the cardioprotectant flavonoid 7-monohydroxyethyl rutoside (monoHER). (PMID: 18449627) Gonzalez-Covarrubias V … Blanco JG (Pharmaceutical research 2008) 3 4 22
  5. A functional genetic polymorphism on human carbonyl reductase 1 (CBR1 V88I) impacts on catalytic activity and NADPH binding affinity. (PMID: 17344335) Gonzalez-Covarrubias V … Blanco JG (Drug metabolism and disposition: the biological fate of chemicals 2007) 3 4 22

Products for CBR1 Gene

Sources for CBR1 Gene