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Aliases for CBR4 Gene

Aliases for CBR4 Gene

  • Carbonyl Reductase 4 2 3 5
  • 3-Ketoacyl-[Acyl-Carrier-Protein] Reductase Beta Subunit 3 4
  • Short Chain Dehydrogenase/Reductase Family 45C Member 1 3 4
  • 3-Oxoacyl-[Acyl-Carrier-Protein] Reductase 3 4
  • Quinone Reductase CBR4 3 4
  • KAR Beta Subunit 3 4
  • SDR45C1 3 4
  • Short Chain Dehydrogenase/Reductase Family 45C, Member 1 2
  • Carbonyl Reductase Family Member 4 3
  • Carbonic Reductase 4 3
  • EC 1.1.1.100 61
  • EC 1.-.-.- 4
  • EC 1.1.1.- 4
  • EC 1.1.1 61

External Ids for CBR4 Gene

Previous GeneCards Identifiers for CBR4 Gene

  • GC04M170283
  • GC04M170145
  • GC04M169815
  • GC04M165662

Summaries for CBR4 Gene

GeneCards Summary for CBR4 Gene

CBR4 (Carbonyl Reductase 4) is a Protein Coding gene. Diseases associated with CBR4 include Horner's Syndrome. Among its related pathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include oxidoreductase activity and NADPH binding. An important paralog of this gene is HSD17B8.

UniProtKB/Swiss-Prot for CBR4 Gene

  • The heterotetramer with HSD17B8 has NADH-dependent 3-ketoacyl-acyl carrier protein reductase activity, and thereby plays a role in mitochondrial fatty acid biosynthesis (PubMed:19571038, PubMed:25203508). Within the heterotetramer, HSD17B8 binds NADH; CBR4 binds NADPD (PubMed:25203508). The homotetramer has NADPH-dependent quinone reductase activity (PubMed:19000905). Both homotetramer and the heterotetramer have broad substrate specificity and can reduce 9,10-phenanthrenequinone, 1,4-benzoquinone and various other o-quinones and p-quinones (in vitro) (PubMed:19000905, PubMed:19571038, PubMed:25203508).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CBR4 Gene

Genomics for CBR4 Gene

Regulatory Elements for CBR4 Gene

Enhancers for CBR4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F168921 0.6 ENCODE 25 +88.6 88635 0.5 CTCF POLR2A MAX SMC3 KDM1A RAD21 CBR4 RNY4P17 ENSG00000251445 RNU6-853P PIR45004
GH04F168877 1.6 FANTOM5 Ensembl ENCODE 24.4 +127.3 127270 11.6 HDGF ZNF493 ZFP64 RARA EGR1 FOS ZNF202 ZNF680 ZNF654 ZBTB11 CBR4 HPF1 PALLD ENSG00000249609 ENSG00000251445 RNY4P17 RNU6-1336P ENSG00000249623 RNU6-853P LOC102723331
GH04F168928 0.4 FANTOM5 21.5 +81.4 81407 0.2 CBR4 RNY4P17 ENSG00000251445 RNU6-853P PIR45004
GH04F168906 0.2 ENCODE 21.3 +102.0 101960 3.5 KLF1 JUND FOS NFE2L2 CBR4 RNU6-853P ENSG00000249609 RNY4P17 ENSG00000251445 PALLD ENSG00000249623 PIR45004
GH04F169007 0.6 ENCODE 14.1 +0.8 791 3.5 HDGF PKNOX1 CREB3L1 SIN3A ARID4B DMAP1 YY1 ZNF143 PAF1 NFYC CBR4 LOC105377528 RNY4P17
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CBR4 on UCSC Golden Path with GeneCards custom track

Promoters for CBR4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001254047 217 2200 HDGF PKNOX1 CREB3L1 SIN3A ARID4B DMAP1 YY1 ZNF143 PAF1 NFYC

Genomic Location for CBR4 Gene

Chromosome:
4
Start:
168,863,770 bp from pter
End:
169,010,317 bp from pter
Size:
146,548 bases
Orientation:
Minus strand

Genomic View for CBR4 Gene

Genes around CBR4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CBR4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CBR4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CBR4 Gene

Proteins for CBR4 Gene

  • Protein details for CBR4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N4T8-CBR4_HUMAN
    Recommended name:
    Carbonyl reductase family member 4
    Protein Accession:
    Q8N4T8
    Secondary Accessions:
    • Q8WTW8
    • Q96K93

    Protein attributes for CBR4 Gene

    Size:
    237 amino acids
    Molecular mass:
    25301 Da
    Quaternary structure:
    • Homotetramer (in vitro) (PubMed:19000905). Heterotetramer with HSD17B8; contains two molecules each of HSD17B8 and CBR4 (PubMed:19571038, PubMed:25203508). Does not form homotetramers when HSD17B8 is coexpressed, only heterotetramers (in vitro) (PubMed:25203508).

    Three dimensional structures from OCA and Proteopedia for CBR4 Gene

    Alternative splice isoforms for CBR4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CBR4 Gene

Selected DME Specific Peptides for CBR4 Gene

Q8N4T8:
  • GSIVNVGS
  • FLVNAAGINRD
  • TGHVLVVDGGLQL
  • VNVVAPGF
  • GGSRGIG

Post-translational modifications for CBR4 Gene

  • Ubiquitination at Lys 96, Lys 140, Lys 152, and Lys 187
  • Modification sites at PhosphoSitePlus

Domains & Families for CBR4 Gene

Gene Families for CBR4 Gene

Suggested Antigen Peptide Sequences for CBR4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N4T8

UniProtKB/Swiss-Prot:

CBR4_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 CBR4: view

Function for CBR4 Gene

Molecular function for CBR4 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=11 uM for NADPH (for homotetramer) {ECO:0000269 PubMed:19000905}; KM=1.6 uM for 9,10-phenanthrenequinone (for homotetramer) {ECO:0000269 PubMed:19000905}; KM=1.9 uM for 1,4-benzoquinone (for homotetramer) {ECO:0000269 PubMed:19000905}; pH dependence: Optimum pH is 6-8 (for homotetramer). {ECO:0000269 PubMed:19000905};
UniProtKB/Swiss-Prot Function:
The heterotetramer with HSD17B8 has NADH-dependent 3-ketoacyl-acyl carrier protein reductase activity, and thereby plays a role in mitochondrial fatty acid biosynthesis (PubMed:19571038, PubMed:25203508). Within the heterotetramer, HSD17B8 binds NADH; CBR4 binds NADPD (PubMed:25203508). The homotetramer has NADPH-dependent quinone reductase activity (PubMed:19000905). Both homotetramer and the heterotetramer have broad substrate specificity and can reduce 9,10-phenanthrenequinone, 1,4-benzoquinone and various other o-quinones and p-quinones (in vitro) (PubMed:19000905, PubMed:19571038, PubMed:25203508).

Enzyme Numbers (IUBMB) for CBR4 Gene

Gene Ontology (GO) - Molecular Function for CBR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003955 NAD(P)H dehydrogenase (quinone) activity IDA 20837989
GO:0005515 protein binding IPI 19571038
GO:0008753 NADPH dehydrogenase (quinone) activity ISS --
GO:0016491 oxidoreductase activity IEA --
GO:0047025 3-oxoacyl-[acyl-carrier-protein] reductase (NADH) activity IMP 25203508
genes like me logo Genes that share ontologies with CBR4: view
genes like me logo Genes that share phenotypes with CBR4: view

Animal Model Products

miRNA for CBR4 Gene

miRTarBase miRNAs that target CBR4

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CBR4 Gene

Localization for CBR4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CBR4 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CBR4 Gene COMPARTMENTS Subcellular localization image for CBR4 gene
Compartment Confidence
mitochondrion 5
cytosol 2
golgi apparatus 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CBR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix ISS --
GO:1990204 oxidoreductase complex IMP 25203508
genes like me logo Genes that share ontologies with CBR4: view

Pathways & Interactions for CBR4 Gene

genes like me logo Genes that share pathways with CBR4: view

Pathways by source for CBR4 Gene

UniProtKB/Swiss-Prot Q8N4T8-CBR4_HUMAN

  • Pathway: Lipid metabolism; fatty acid biosynthesis.

Gene Ontology (GO) - Biological Process for CBR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process IMP 25203508
GO:0044597 daunorubicin metabolic process IMP 20837989
GO:0044598 doxorubicin metabolic process IMP 20837989
genes like me logo Genes that share ontologies with CBR4: view

No data available for SIGNOR curated interactions for CBR4 Gene

Transcripts for CBR4 Gene

Unigene Clusters for CBR4 Gene

Carbonyl reductase 4:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CBR4 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b
SP1: - - - -
SP2: - - - - - -
SP3: - -
SP4: -
SP5: - - -
SP6: - -
SP7:
SP8: - - - - -

Relevant External Links for CBR4 Gene

GeneLoc Exon Structure for
CBR4
ECgene alternative splicing isoforms for
CBR4

Expression for CBR4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CBR4 Gene

Protein differential expression in normal tissues from HIPED for CBR4 Gene

This gene is overexpressed in Liver (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CBR4 Gene



Protein tissue co-expression partners for CBR4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CBR4 Gene:

CBR4

SOURCE GeneReport for Unigene cluster for CBR4 Gene:

Hs.659311

mRNA Expression by UniProt/SwissProt for CBR4 Gene:

Q8N4T8-CBR4_HUMAN
Tissue specificity: Detected in liver and kidney (at protein level).
genes like me logo Genes that share expression patterns with CBR4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CBR4 Gene

Orthologs for CBR4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CBR4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CBR4 34 35
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia CBR4 35
  • 92 (a)
OneToOne
LOC477352 34
  • 91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CBR4 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cbr4 34 16 35
  • 86.04 (n)
cow
(Bos Taurus)
Mammalia CBR4 34 35
  • 85.37 (n)
rat
(Rattus norvegicus)
Mammalia Cbr4 34
  • 84.9 (n)
oppossum
(Monodelphis domestica)
Mammalia CBR4 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves CBR4 34 35
  • 74.12 (n)
lizard
(Anolis carolinensis)
Reptilia CBR4 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cbr4 34
  • 66.95 (n)
Str.15559 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.11545 34
zebrafish
(Danio rerio)
Actinopterygii cbr4 34 35
  • 62.01 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G24360 34
  • 49.43 (n)
rice
(Oryza sativa)
Liliopsida Os12g0242700 34
  • 46.76 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03525 34
  • 46.17 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes oar2 34
  • 45.35 (n)
Species where no ortholog for CBR4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • 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 CBR4 Gene

ENSEMBL:
Gene Tree for CBR4 (if available)
TreeFam:
Gene Tree for CBR4 (if available)

Paralogs for CBR4 Gene

(9) SIMAP similar genes for CBR4 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CBR4: view

Variants for CBR4 Gene

Sequence variations from dbSNP and Humsavar for CBR4 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs113515140 Likely benign 168,926,209(+) TCTTT(A/G)TAGCC intron-variant
rs114171764 Likely benign 168,915,900(+) GCCTC(A/G)TTCTA intron-variant, reference, missense
rs114593924 Likely benign 168,925,017(+) TGGTA(C/T)ACTGT intron-variant, reference, synonymous-codon
rs142116575 Likely benign 168,898,635(+) TGAGA(C/T)GAAGC intron-variant, reference, missense
rs368890611 Likely benign 168,894,570(+) CTTAC(A/G/T)TTGTT intron-variant, downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CBR4 Gene

Variant ID Type Subtype PubMed ID
esv34043 CNV loss 18971310
nsv1026854 CNV gain 25217958

Variation tolerance for CBR4 Gene

Residual Variation Intolerance Score: 41.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.66; 31.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CBR4 Gene

Human Gene Mutation Database (HGMD)
CBR4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CBR4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBR4 Gene

Disorders for CBR4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CBR4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
horner's syndrome
  • bernard horner syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CBR4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CBR4

Genetic Association Database (GAD)
CBR4
Human Genome Epidemiology (HuGE) Navigator
CBR4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CBR4
genes like me logo Genes that share disorders with CBR4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CBR4 Gene

Publications for CBR4 Gene

  1. Insights into mitochondrial fatty acid synthesis from the structure of heterotetrameric 3-ketoacyl-ACP reductase/3R-hydroxyacyl-CoA dehydrogenase. (PMID: 25203508) Venkatesan R. … Chen Z. (Nat. Commun. 2014) 3 4 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3 64
  4. 17beta-Hydroxysteroid dehydrogenase type 8 and carbonyl reductase type 4 assemble as a ketoacyl reductase of human mitochondrial FAS. (PMID: 19571038) Chen Z. … Hiltunen J.K. (FASEB J. 2009) 3 4 64
  5. Human carbonyl reductase 4 is a mitochondrial NADPH-dependent quinone reductase. (PMID: 19000905) Endo S. … Hara A. (Biochem. Biophys. Res. Commun. 2008) 3 4 64

Products for CBR4 Gene

Sources for CBR4 Gene

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