Human Gene CBR4 (uc003irz.2)
  Description: Homo sapiens carbonyl reductase 4 (CBR4), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr4:169,922,320-169,931,468 Size: 9,149 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr4:169,923,217-169,931,240 Size: 8,024 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:169,922,320-169,931,468)mRNA (may differ from genome)Protein (179 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CBR4_HUMAN
DESCRIPTION: RecName: Full=Carbonyl reductase family member 4; EC=1.-.-.-; AltName: Full=3-oxoacyl-[acyl-carrier-protein] reductase; EC=1.1.1.-; AltName: Full=Quinone reductase CBR4;
FUNCTION: The heteroteramer with HSD17B8 has NADH-dependent 3- ketoacyl-acyl carrier protein reductase activity. May play a role in biosynthesis of fatty acids in mitochondria. The homotetramer may act as NADPH-dependent quinone reductase. Has broad substrate specificity and reduces 9,10-phenanthrenequinone, 1,4-benzoquinone and various other o-quinones and p-quinones (in vitro).
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=11 uM for NADPH; KM=1.6 uM for 9,10-phenanthrenequinone; KM=1.9 uM for 1,4-benzoquinone; pH dependence: Optimum pH is 6-8;
PATHWAY: Lipid metabolism; fatty acid biosynthesis.
SUBUNIT: Homotetramer. Heterotetramer with HSD17B8; contains two molecules of HSD17B8 and CBR4.
SUBCELLULAR LOCATION: Mitochondrion matrix.
TISSUE SPECIFICITY: Detected in liver and kidney (at protein level).
SIMILARITY: Belongs to the short-chain dehydrogenases/reductases (SDR) family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CBR4
CDC HuGE Published Literature: CBR4
Positive Disease Associations: Body Height , Myocardial Infarction
Related Studies:
  1. Body Height
    , , . [PubMed 0]
  2. Body Height
    , , . [PubMed 0]
  3. Myocardial Infarction
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: CBR4
Diseases sorted by gene-association score: horner's syndrome (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.82 RPKM in Liver
Total median expression: 259.60 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -69.96228-0.307 Picture PostScript Text
3' UTR -249.02897-0.278 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002198 - DH_sc/Rdtase_SDR
IPR002347 - Glc/ribitol_DH
IPR016040 - NAD(P)-bd_dom
IPR020904 - Sc_DH/Rdtase_CS

Pfam Domains:
PF00106 - short chain dehydrogenase
PF08659 - KR domain
PF13561 - Enoyl-(Acyl carrier protein) reductase

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains

ModBase Predicted Comparative 3D Structure on Q8N4T8
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003955 NAD(P)H dehydrogenase (quinone) activity
GO:0005515 protein binding
GO:0008753 NADPH dehydrogenase (quinone) activity
GO:0016491 oxidoreductase activity
GO:0047025 3-oxoacyl-[acyl-carrier-protein] reductase (NADH) activity
GO:0048038 quinone binding
GO:0070402 NADPH binding

Biological Process:
GO:0006629 lipid metabolic process
GO:0006631 fatty acid metabolic process
GO:0006633 fatty acid biosynthetic process
GO:0044597 daunorubicin metabolic process
GO:0044598 doxorubicin metabolic process
GO:0051289 protein homotetramerization
GO:0051290 protein heterotetramerization
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:1990204 oxidoreductase complex


-  Descriptions from all associated GenBank mRNAs
  AK299847 - Homo sapiens cDNA FLJ61376 complete cds, moderately similar to Homo sapiens carbonic reductase 4 (CBR4), mRNA.
BC033650 - Homo sapiens carbonyl reductase 4, mRNA (cDNA clone MGC:44889 IMAGE:5574637), complete cds.
AL833393 - Homo sapiens mRNA; cDNA DKFZp762K109 (from clone DKFZp762K109).
AK291756 - Homo sapiens cDNA FLJ77331 complete cds, highly similar to Homo sapiens carbonic reductase 4 (CBR4), mRNA.
LF208120 - JP 2014500723-A/15623: Polycomb-Associated Non-Coding RNAs.
BC021973 - Homo sapiens carbonyl reductase 4, mRNA (cDNA clone MGC:16116 IMAGE:3625459), complete cds.
HQ447088 - Synthetic construct Homo sapiens clone IMAGE:100070371; CCSB010077_01 carbonyl reductase 4 (CBR4) gene, encodes complete protein.
KJ895041 - Synthetic construct Homo sapiens clone ccsbBroadEn_04435 CBR4 gene, encodes complete protein.
KJ899837 - Synthetic construct Homo sapiens clone ccsbBroadEn_09231 CBR4 gene, encodes complete protein.
AK027337 - Homo sapiens cDNA FLJ14431 fis, clone HEMBA1006521, weakly similar to 3-OXOACYL-[ACYL-CARRIER PROTEIN] REDUCTASE (EC 1.1.1.100).
JD420979 - Sequence 402003 from Patent EP1572962.
JD554096 - Sequence 535120 from Patent EP1572962.
JD340796 - Sequence 321820 from Patent EP1572962.
JD331936 - Sequence 312960 from Patent EP1572962.
JD554095 - Sequence 535119 from Patent EP1572962.
JD281525 - Sequence 262549 from Patent EP1572962.
JD452840 - Sequence 433864 from Patent EP1572962.
JD250275 - Sequence 231299 from Patent EP1572962.
JD243901 - Sequence 224925 from Patent EP1572962.
JD265562 - Sequence 246586 from Patent EP1572962.
JD207809 - Sequence 188833 from Patent EP1572962.
JD276867 - Sequence 257891 from Patent EP1572962.
JD563188 - Sequence 544212 from Patent EP1572962.
JD515723 - Sequence 496747 from Patent EP1572962.
JD053501 - Sequence 34525 from Patent EP1572962.
JD377376 - Sequence 358400 from Patent EP1572962.
JD280221 - Sequence 261245 from Patent EP1572962.
JD152475 - Sequence 133499 from Patent EP1572962.
JD180837 - Sequence 161861 from Patent EP1572962.
LF372526 - JP 2014500723-A/180029: Polycomb-Associated Non-Coding RNAs.
MA608103 - JP 2018138019-A/180029: Polycomb-Associated Non-Coding RNAs.
MA443697 - JP 2018138019-A/15623: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8N4T8 (Reactome details) participates in the following event(s):

R-HSA-8862152 2xHSD17B8:2xCBR4 reduces 3OA-ACP to 3HA-ACP
R-HSA-75105 Fatty acyl-CoA biosynthesis
R-HSA-8978868 Fatty acid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: AK027337, CBR4_HUMAN, NM_032783, NP_116172, Q8N4T8, Q8WTW8, Q96K93
UCSC ID: uc003irz.2
RefSeq Accession: NM_032783
Protein: Q8N4T8 (aka CBR4_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK027337.1
exon count: 4CDS single in 3' UTR: no RNA size: 1602
ORF size: 540CDS single in intron: no Alignment % ID: 99.50
txCdsPredict score: 1127.00frame shift in genome: no % Coverage: 99.94
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 902# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.