CBR3 carbonyl reductase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CBR3provided by HGNC
Official Full Name: carbonyl reductase 3provided by HGNC
Primary source: HGNC:HGNC:1549
See related: Ensembl:ENSG00000159231 MIM:603608; AllianceGenome:HGNC:1549
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: hCBR3; SDR21C2; HEL-S-25
Summary: Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and pharmacologically active carbonyl compounds to their corresponding alcohols. The enzyme is classified as a monomeric NADPH-dependent oxidoreductase. CBR3 contains three exons spanning 11.2 kilobases and is closely linked to another carbonyl reductase gene - CBR1. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in esophagus (RPKM 6.1), skin (RPKM 5.7) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 21q22.12

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (36135079..36146562)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (34518104..34529412)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (37507377..37518860)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Long noncoding RNA CBR3 antisense RNA 1 promotes the aggressive phenotypes of nonsmallcell lung cancer by sponging microRNA5093p and competitively upregulating HDAC9 expression.
Title: Long noncoding RNA CBR3 antisense RNA 1 promotes the aggressive phenotypes of non‑small‑cell lung cancer by sponging microRNA‑509‑3p and competitively upregulating HDAC9 expression.
patients with advanced stage retinoblastoma had higher levels of PlncRNA-1 expression than patients with early stage retinoblastoma. There was an inverse correlation between PlncRNA-1 expression and CBR3 expression in retinoblastoma tissues, and PlncRNA-1 negatively regulated mRNA and protein expressions of CBR3.
Title: PlncRNA-1 is overexpressed in retinoblastoma and regulates retinoblastoma cell proliferation and motility through modulating CBR3.
CBR3 730G>A is significantly associated with recurrence- free survival in patients who received intravesical chemotherapy with pirarubicin after complete transurethral resection.
Title: NOS3 895G>T and CBR3 730G>A Are Associated with Recurrence Risk in Non-Muscle-Invasive Bladder Cancer with Intravesical Instillations of THP.
No significant correlation between cardiotoxicity and SNPs within the CBR pathway. Further investigation into CBR SNPs in a larger adult sample is needed.
Title: Risk factors for anthracycline-associated cardiotoxicity.
association of SNPs in ABCB1 and CBR3 with chronic cardiotoxicity in a cohort of breast cancer patients treated with anthracyclines.
Title: Evidence for association of SNPs in ABCB1 and CBR3, but not RAC2, NCF4, SLC28A3 or TOP2B, with chronic cardiotoxicity in a cohort of breast cancer patients treated with anthracyclines.
Variants of CBR3 and GSTP1 enzymes may be associated with changes in short-term functional cardiac parameters.
Title: The relationship between changes in functional cardiac parameters following anthracycline therapy and carbonyl reductase 3 and glutathione S transferase Pi polymorphisms.
genetic polymorphism in the CBR3 gene conferred risk of type 2 diabetes and insulin resistance in Chinese. The association was probably mediated through modulation of adipogenesis.
Title: Genetic variation in the carbonyl reductase 3 gene confers risk of type 2 diabetes and insulin resistance: a potential regulator of adipogenesis.
CBR3 polymorphisms contribute to increased cardiomyopathy risk associated with anthracycline treatment of childhood cancer.
Title: Anthracycline-related cardiomyopathy after childhood cancer: role of polymorphisms in carbonyl reductase genes--a report from the Children's Oncology Group.
CBR3 is a novel target gene of inflammatory stimuli; elucidation of its detailed role in inflammation deserves further investigation.
Title: Expression of human carbonyl reductase 3 (CBR3; SDR21C2) is inducible by pro-inflammatory stimuli.
A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
Title: Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-keto sterol reductase activity	IEA Inferred from Electronic Annotation more info
enables NADPH binding	IDA Inferred from Direct Assay more info	PubMed
enables NADPH dehydrogenase (quinone) activity	IDA Inferred from Direct Assay more info	PubMed
enables carbonyl reductase (NADPH) activity	IBA Inferred from Biological aspect of Ancestor more info
enables carbonyl reductase (NADPH) activity	IDA Inferred from Direct Assay more info	PubMed
enables carbonyl reductase (NADPH) activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cognition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phylloquinone catabolic process	IEA Inferred from Electronic Annotation more info
involved_in xenobiotic metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: carbonyl reductase [NADPH] 3

Names: NADPH-dependent carbonyl reductase 3; carbonyl reductase (NADPH) 3; epididymis secretory protein Li 25; quinone reductase CBR3; short chain dehydrogenase/reductase family 21C member 2

NP_001227.1

EC 1.1.1.184

EC 1.6.5.10

XP_011528074.1

EC 1.1.1.184

EC 1.6.5.10

XP_054180884.1

EC 1.1.1.184

EC 1.6.5.10

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_052818.1 RefSeqGene

Range

5179..16662

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001236.4 → NP_001227.1 carbonyl reductase [NADPH] 3

See identical proteins and their annotated locations for NP_001227.1

Status: REVIEWED

Source sequence(s)

AB041012, BC002812

Consensus CDS

CCDS13642.1

UniProtKB/Swiss-Prot

O75828, Q6FHP2

UniProtKB/TrEMBL

Q53F60, V9HW40

Related

ENSP00000290354.5, ENST00000290354.6

Conserved Domains (1) summary

cd05324
Location:6 → 277

carb_red_PTCR-like_SDR_c; Porcine testicular carbonyl reductase (PTCR)-like, classical (c) SDRs

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000021.9 Reference GRCh38.p14 Primary Assembly

Range

36135079..36146562

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011529772.3 → XP_011528074.1 carbonyl reductase [NADPH] 3 isoform X1

Conserved Domains (1) summary

cl21454
Location:6 → 131

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins