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    CBR4 carbonyl reductase 4 [ Homo sapiens (human) ]

    Gene ID: 84869, updated on 3-Apr-2024

    Summary

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    Official Symbol
    CBR4provided by HGNC
    Official Full Name
    carbonyl reductase 4provided by HGNC
    Primary source
    HGNC:HGNC:25891
    See related
    Ensembl:ENSG00000145439 MIM:619394; AllianceGenome:HGNC:25891
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SDR45C1
    Summary
    Enables several functions, including 3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity; NADPH binding activity; and NADPH dehydrogenase (quinone) activity. Involved in fatty acid biosynthetic process; glycoside metabolic process; and protein tetramerization. Located in mitochondrial matrix. Part of oxidoreductase complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in lung (RPKM 23.4), fat (RPKM 17.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    4q32.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (168894486..169010255, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (172254054..172369681, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (169908741..169931406, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene palladin, cytoskeletal associated protein Neighboring gene uncharacterized LOC102723331 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:169798790-169799374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22127 Neighboring gene RNA, U6 small nuclear 853, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:169851979-169852480 Neighboring gene uncharacterized LOC107986200 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:169915462-169916268 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:169916269-169917074 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:169930407-169931356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:169937297-169937797 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:169938862-169939362 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:169954994-169956193 Neighboring gene RNY4 pseudogene 17 Neighboring gene CBR4 divergent transcript Neighboring gene uncharacterized LOC105377527 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:169991001-169991955 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:169995185-169995684

    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
    • 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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    Related articles in PubMed

    1. Human carbonyl reductase 4 is a mitochondrial NADPH-dependent quinone reductase. Endo S, et al. Biochem Biophys Res Commun, 2008 Dec 26. PMID 19000905
    2. 17beta-hydroxysteroid dehydrogenase type 8 and carbonyl reductase type 4 assemble as a ketoacyl reductase of human mitochondrial FAS. Chen Z, et al. FASEB J, 2009 Nov. PMID 19571038
    3. Insights into mitochondrial fatty acid synthesis from the structure of heterotetrameric 3-ketoacyl-ACP reductase/3R-hydroxyacyl-CoA dehydrogenase. Venkatesan R, et al. Nat Commun, 2014 Sep 9. PMID 25203508
    4. Naturally occurring variants of human aldo-keto reductases with reduced in vitro metabolism of daunorubicin and doxorubicin. Bains OS, et al. J Pharmacol Exp Ther, 2010 Dec. PMID 20837989
    5. Inhibition of the Mitochondrial Protease ClpP as a Therapeutic Strategy for Human Acute Myeloid Leukemia. Cole A, et al. Cancer Cell, 2015 Jun 8. PMID 26058080, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    2. Hs17beta-HSD8 and HsCBR4 show a strong genetic interaction in vivo in yeast, where, only if they are expressed together, they rescue the respiratory deficiency and restore the lipoic acid content of oar1Delta cells.
      Title: 17beta-hydroxysteroid dehydrogenase type 8 and carbonyl reductase type 4 assemble as a ketoacyl reductase of human mitochondrial FAS.
    3. CBR4 is a mitochondrial NADPH-dependent reductase for o- and p-quinones.
      Title: Human carbonyl reductase 4 is a mitochondrial NADPH-dependent quinone reductase.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    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

    Clone Names

    • FLJ14431

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables NAD(P)H dehydrogenase (quinone) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables quinone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables quinone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in daunorubicin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in doxorubicin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in fatty acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fatty acid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein heterotetramerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein homotetramerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    part_of oxidoreductase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of oxidoreductase complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    3-oxoacyl-[acyl-carrier-protein] reductase
    Names
    3-ketoacyl-[acyl-carrier-protein] reductase beta subunit
    KAR beta subunit
    carbonic reductase 4
    carbonyl reductase family member 4
    quinone reductase CBR4
    short chain dehydrogenase/reductase family 45C member 1
    NP_116172.2
    XP_005263372.1
    XP_006714454.1
    XP_011530687.1
    XP_011530688.1
    XP_016864271.1
    XP_016864272.1
    XP_047272287.1
    XP_054207096.1
    XP_054207097.1
    XP_054207098.1
    XP_054207099.1
    XP_054207100.1
    XP_054207101.1
    XP_054207102.1

    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_032783.5 → NP_116172.2  3-oxoacyl-[acyl-carrier-protein] reductase

      See identical proteins and their annotated locations for NP_116172.2

      Status: VALIDATED

      Source sequence(s)
      AC021151, AL833393, BC033650, DA217727
      Consensus CDS
      CCDS3812.1
      UniProtKB/Swiss-Prot
      Q8N4T8, Q8WTW8, Q96K93
      Related
      ENSP00000303525.3, ENST00000306193.8
      Conserved Domains (1) summary
      cl21454
      Location:3 → 233
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      168894486..169010255 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008782.2 → XP_016864271.1  3-oxoacyl-[acyl-carrier-protein] reductase isoform X2

      UniProtKB/TrEMBL
      H0Y962

    2. XM_005263315.4 → XP_005263372.1  3-oxoacyl-[acyl-carrier-protein] reductase isoform X3

      UniProtKB/TrEMBL
      H0Y962
      Conserved Domains (2) summary
      cd05233
      Location:5 → 181
      SDR_c; classical (c) SDRs
      pfam00106
      Location:3 → 192
      adh_short; short chain dehydrogenase

    3. XM_047416331.1 → XP_047272287.1  3-oxoacyl-[acyl-carrier-protein] reductase isoform X6

      Related
      ENSP00000427615.1, ENST00000504480.5

    4. XM_017008783.3 → XP_016864272.1  3-oxoacyl-[acyl-carrier-protein] reductase isoform X4

      UniProtKB/TrEMBL
      H0Y962
      Related
      ENSP00000423128.1, ENST00000504561.1

    5. XM_011532386.3 → XP_011530688.1  3-oxoacyl-[acyl-carrier-protein] reductase isoform X7

      Conserved Domains (1) summary
      cl21454
      Location:5 → 144
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    6. XM_011532385.2 → XP_011530687.1  3-oxoacyl-[acyl-carrier-protein] reductase isoform X5

      Conserved Domains (2) summary
      TIGR01830
      Location:7 → 188
      3oxo_ACP_reduc; 3-oxoacyl-(acyl-carrier-protein) reductase
      cl21454
      Location:3 → 188
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    7. XM_006714391.2 → XP_006714454.1  3-oxoacyl-[acyl-carrier-protein] reductase isoform X1

      Conserved Domains (2) summary
      TIGR01830
      Location:7 → 243
      3oxo_ACP_reduc; 3-oxoacyl-(acyl-carrier-protein) reductase
      cl21454
      Location:3 → 243
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    RNA

    1. XR_007057980.1 RNA Sequence

    2. XR_001741341.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      172254054..172369681 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351123.1 → XP_054207098.1  3-oxoacyl-[acyl-carrier-protein] reductase isoform X3

    2. XM_054351122.1 → XP_054207097.1  3-oxoacyl-[acyl-carrier-protein] reductase isoform X2

    3. XM_054351126.1 → XP_054207101.1  3-oxoacyl-[acyl-carrier-protein] reductase isoform X6

    4. XM_054351124.1 → XP_054207099.1  3-oxoacyl-[acyl-carrier-protein] reductase isoform X4

    5. XM_054351127.1 → XP_054207102.1  3-oxoacyl-[acyl-carrier-protein] reductase isoform X7

    6. XM_054351125.1 → XP_054207100.1  3-oxoacyl-[acyl-carrier-protein] reductase isoform X5

    7. XM_054351121.1 → XP_054207096.1  3-oxoacyl-[acyl-carrier-protein] reductase isoform X1

    RNA

    1. XR_008487053.1 RNA Sequence

    2. XR_008487052.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N4T8.3 GenPept UniProtKB/Swiss-Prot:Q8N4T8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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