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    CBR1 carbonyl reductase 1 [ Homo sapiens (human) ]

    Gene ID: 873, updated on 14-Nov-2024

    Summary

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    Official Symbol
    CBR1provided by HGNC
    Official Full Name
    carbonyl reductase 1provided by HGNC
    Primary source
    HGNC:HGNC:1548
    See related
    Ensembl:ENSG00000159228 MIM:114830; AllianceGenome:HGNC:1548
    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
    CBR; hCBR1; PG-9-KR; SDR21C1
    Summary
    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]
    Expression
    Broad expression in duodenum (RPKM 163.2), small intestine (RPKM 98.7) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CBR1 in Genome Data Viewer
    Location:
    21q22.12
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (36070024..36073164)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (34453083..34456223)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (37442322..37445462)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene SETD4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18423 Neighboring gene RNA, U6 small nuclear 992, pseudogene Neighboring gene CBR1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18424 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:37471927-37472788 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:37477035-37477536 Neighboring gene uncharacterized LOC105369306 Neighboring gene MPRA-validated peak4410 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:37485624-37486136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18427 Neighboring gene MEMO1 pseudogene 1 Neighboring gene CBR3 antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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?
    1. [Altered expression of 15-hydroxyprostaglandin dehydrogenase in chronic rhinosinusitis with nasal polyps].
      Title: [Altered expression of 15-hydroxyprostaglandin dehydrogenase in chronic rhinosinusitis with nasal polyps].
    2. CBR1 is an efficient catalyst for the reduction of glutathionylated aldehydes derived from lipid peroxidation.
      Title: Human carbonyl reductase 1 as efficient catalyst for the reduction of glutathionylated aldehydes derived from lipid peroxidation.
    3. LncRNA MYMLR promotes pituitary adenoma development by upregulating carbonyl reductase 1 via sponging miR-197-3p.
      Title: LncRNA MYMLR promotes pituitary adenoma development by upregulating carbonyl reductase 1 via sponging miR-197-3p.
    4. Carbonyl Reductase 1 Attenuates Ischemic Brain Injury by Reducing Oxidative Stress and Neuroinflammation.
      Title: Carbonyl Reductase 1 Attenuates Ischemic Brain Injury by Reducing Oxidative Stress and Neuroinflammation.
    5. Transcription of carbonyl reductase 1 is regulated by DNA topoisomerase II beta.
      Title: Transcription of carbonyl reductase 1 is regulated by DNA topoisomerase II beta.
    6. Dehydrogenase/reductase activity of human carbonyl reductase 1 with NADP(H) acting as a prosthetic group.
      Title: Dehydrogenase/reductase activity of human carbonyl reductase 1 with NADP(H) acting as a prosthetic group.
    7. These findings suggest that CBR1 generating 20beta-dihydrocortisol is a novel pathway modulating GR activation and providing enzymatic protection against excessive GR activation in obesity.
      Title: Carbonyl reductase 1 catalyzes 20β-reduction of glucocorticoids, modulating receptor activation and metabolic complications of obesity.
    8. Findings suggest that CBR1 has an important role in DNA damage response through regulation of irradiation-mediated ROS generation causing to regulation of radiosensitivity, and CBR1 inhibition with IR might be a potent therapeutic strategy for head and neck squamous cell carcinoma treatment.
      Title: Carbonyl reductase 1 is a new target to improve the effect of radiotherapy on head and neck squamous cell carcinoma.
    9. This study examined the impact of the functional single nucleotide polymorphism CBR1 rs9024 on the bioactivation of loxoprofen in a collection of human liver samples and tumor cell lines.
      Title: CBR1 rs9024 genotype status impacts the bioactivation of loxoprofen in human liver.
    10. The ability of human carbonyl reductase 1 to efficiently catalyze the reduction of glutathionylated aldehydes derived from lipid peroxidation, that in the case of glutathionylated-4-hydroxyalkanals is associated to the ability to oxidize the hemiacetal hydroxyl group
      Title: Kinetic features of carbonyl reductase 1 acting on glutathionylated aldehydes.
    Submit: New GeneRIF Correction See all GeneRIFs (41)

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 15-hydroxyprostaglandin dehydrogenase (NADP+) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables 15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables S-nitrosoglutathione reductase (NADPH) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables prostaglandin E2 9-reductase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables prostaglandin E2 9-reductase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cyclooxygenase pathway TAS
    Traceable Author Statement
    more info
    		  
    involved_in epithelial cell differentiation IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in glucocorticoid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of reactive oxygen species metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in vitamin K metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in xenobiotic metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular vesicle HDA PubMed 

    General protein information

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    Preferred Names
    carbonyl reductase [NADPH] 1
    Names
    15-hydroxyprostaglandin dehydrogenase
    20-beta-hydroxysteroid dehydrogenase
    NADPH-dependent carbonyl reductase 1
    alcohol dehydrogenase [NAD(P)+] CBR1
    carbonyl reductase (NADPH) 1
    epididymis secretory sperm binding protein
    prostaglandin 9-ketoreductase
    prostaglandin-E(2) 9-reductase
    short chain dehydrogenase/reductase family 21C member 1
    NP_001273718.1
    NP_001748.1

    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.

    mRNA and Protein(s)

    1. NM_001286789.2 → NP_001273718.1  carbonyl reductase [NADPH] 1 isoform 2

      See identical proteins and their annotated locations for NP_001273718.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate acceptor splice site at the 3' terminal exon that causes a frame-shift compared to variant 1. The resulting shorter isoform (2) has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK294142, AK311219
      Consensus CDS
      CCDS68202.1
      UniProtKB/Swiss-Prot
      P16152
      Related
      ENSP00000434613.1, ENST00000530908.5
      Conserved Domains (1) summary
      cl21454
      Location:6 → 131
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. NM_001757.4 → NP_001748.1  carbonyl reductase [NADPH] 1 isoform 1

      See identical proteins and their annotated locations for NP_001748.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB124848
      Consensus CDS
      CCDS13641.1
      UniProtKB/Swiss-Prot
      B2RBZ7, B4DFK7, P16152, Q3LHW8
      UniProtKB/TrEMBL
      A0A384NL53
      Related
      ENSP00000290349.6, ENST00000290349.11
      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

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      36070024..36073164
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      34453083..34456223
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P16152.3 GenPept UniProtKB/Swiss-Prot:P16152

    Gene LinkOut

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