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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
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Genomic context

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See CBR4 in Genome Data Viewer
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

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