CBR4 Gene (Protein Coding)

Carbonyl Reductase 4

GC04M168864
GIFtS:
39

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
  • Carbonyl Reductase Family Member 4 3 4
  • Quinone Reductase CBR4 3 4
  • KAR Beta Subunit 3 4
  • SDR45C1 3 4
  • Short Chain Dehydrogenase/Reductase Family 45C, Member 1 2
  • Carbonic Reductase 4 3
  • EC 1.1.1.100 52
  • EC 1.-.-.- 4
  • EC 1.1.1.- 4
  • EC 1.1.1 52

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 Fatty Acyl-CoA Biosynthesis. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and NADPH binding.

UniProtKB/Swiss-Prot Summary 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).

Additional gene information for CBR4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CBR4 Gene

Genomics for CBR4 Gene

GeneHancer (GH) Regulatory Elements for CBR4 Gene


GeneHancers around CBR4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CBR4

Top Transcription factor binding sites by QIAGEN in the CBR4 gene promoter:
  • Bach2
  • FOXJ2
  • HFH-1
  • HNF-1
  • HNF-1A
  • Pax-2
  • Pax-2a
  • Pax-2b
  • POU3F1
  • TBP

Genomic Locations for CBR4 Gene

Genomic Locations for CBR4 Gene
chr4:168,863,770-169,010,317
(GRCh38/hg38)
Size:
146,548 bases
Orientation:
Minus strand
chr4:169,784,921-169,931,468
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for CBR4 Gene

Proteins for CBR4 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for CBR4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CBR4 Gene

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

Post-translational modifications for CBR4 Gene

  • Ubiquitination at Lys96, Lys140, Lys152, and Lys187
  • Modification sites at PhosphoSitePlus

Other Protein References for CBR4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CBR4 Gene

Gene Families for CBR4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CBR4 Gene

Blocks:
  • Short-chain dehydrogenase/reductase SDR
  • Glucose/ribitol dehydrogenase family signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CBR4 Gene

GenScript: Design optimal peptide antigens:
  • Quinone reductase CBR4 (CBR4_HUMAN)

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CBR4 Gene

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).
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};

Enzyme Numbers (IUBMB) for CBR4 Gene

Phenotypes From GWAS Catalog 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 IDA 19000905
GO:0016491 oxidoreductase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA 21873635
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

CRISPR Products

miRNA for CBR4 Gene

miRTarBase miRNAs that target CBR4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CBR4

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CBR4 gene
Compartment Confidence
mitochondrion 5
cytosol 3
plasma membrane 2
nucleus 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 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 TAS --
GO:1990204 oxidoreductase complex IMP 25203508
genes like me logo Genes that share ontologies with CBR4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CBR4 Gene

Pathways & Interactions for CBR4 Gene

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

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 IBA,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

Drugs & Compounds for CBR4 Gene

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  1. Drug
No Compound Related Data Available

Transcripts for CBR4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CBR4 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CBR4

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

Expression for CBR4 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for CBR4 Gene
mRNA expression by GTEx for CBR4 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for CBR4 Gene



Protein tissue co-expression partners for CBR4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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).

Evidence on tissue expression from TISSUES for CBR4 Gene

  • Liver(4.3)
  • Intestine(4.2)
  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with CBR4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 99.72 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CBR4 31
  • 92 (a)
 OneToOne
LOC477352 30
  • 91 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia CBR4 31
  • 90 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Cbr4 17 31 30
  • 86.04 (n)
cow
(Bos Taurus)
 Mammalia CBR4 31 30
  • 85.37 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Cbr4 30
  • 84.9 (n)
oppossum
(Monodelphis domestica)
 Mammalia CBR4 31
  • 83 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CBR4 31 30
  • 74.12 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CBR4 31
  • 76 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cbr4 30
  • 66.95 (n)
Str.15559 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.11545 30
zebrafish
(Danio rerio)
 Actinopterygii cbr4 31 30
  • 62.01 (n)
 OneToOne
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT1G24360 30
  • 49.43 (n)
rice
(Oryza sativa)
 Liliopsida Os12g0242700 30
  • 46.76 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU03525 30
  • 46.17 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes oar2 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CBR4: view image

Paralogs for CBR4 Gene

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

  • CBR4_HUMAN
  • D6RAV8_HUMAN
  • D6RGF2_HUMAN
  • D6RJF4_HUMAN
  • H0Y962_HUMAN
genes like me logo Genes that share paralogs with CBR4: view

No data available for Paralogs for CBR4 Gene

Variants for CBR4 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CBR4 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
641520 Uncertain Significance: Pancreatic adenocarcinoma 168,924,286(-) T/G MISSENSE_VARIANT
648376 Uncertain Significance: Pancreatic adenocarcinoma 168,921,627(-) G/A MISSENSE_VARIANT
650493 Uncertain Significance: Pancreatic adenocarcinoma 168,913,931(-) G/A MISSENSE_VARIANT
654773 Uncertain Significance: Pancreatic adenocarcinoma 168,898,493(-) G/A MISSENSE_VARIANT
658471 Uncertain Significance: Pancreatic adenocarcinoma 168,924,949(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CBR4 Gene

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)

Additional Variant Information for CBR4 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Additional Disease Information for CBR4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Nature communications 2014) 3 4 54
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B … Oppermann U (Chemico-biological interactions 2009) 2 3 54
  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 JK (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009) 3 4 54
  5. Human carbonyl reductase 4 is a mitochondrial NADPH-dependent quinone reductase. (PMID: 19000905) Endo S … Hara A (Biochemical and biophysical research communications 2008) 3 4 54

ExternalLinks

View latest publications for CBR4 gene in Mastermind

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