Human Gene BLVRA (uc003tir.3)
  Description: Homo sapiens biliverdin reductase A (BLVRA), transcript variant 1, mRNA.
RefSeq Summary (NM_000712): The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011].
Transcript (Including UTRs)
   Position: hg19 chr7:43,798,272-43,846,941 Size: 48,670 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr7:43,810,758-43,846,834 Size: 36,077 Coding Exon Count: 7 

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 (chr7:43,798,272-43,846,941)mRNA (may differ from genome)Protein (296 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BIEA_HUMAN
DESCRIPTION: RecName: Full=Biliverdin reductase A; Short=BVR A; EC=1.3.1.24; AltName: Full=Biliverdin-IX alpha-reductase; Flags: Precursor;
FUNCTION: Reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin IX alpha, to bilirubin with the concomitant oxidation of a NADH or NADPH cofactor.
CATALYTIC ACTIVITY: Bilirubin + NAD(P)(+) = biliverdin + NAD(P)H.
COFACTOR: Binds 1 zinc ion per subunit.
PATHWAY: Porphyrin metabolism; protoheme degradation.
SUBUNIT: Monomer.
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Liver.
DISEASE: Defects in BLVRA are the cause of hyperbiliverdinemia (HBLVD) [MIM:614156]. HBLVD is a condition characterized by a green discoloration of the skin, urine, serum, and other bodily fluids. It is due to increased biliverdin resulting from inefficient conversion to bilirubin. Affected individuals appear to have symptoms only in the context of obstructive cholestasis and/or liver failure. In some cases, green jaundice can resolve after resolution of obstructive cholestasis.
MISCELLANEOUS: Uses the reactants NADH or NADPH depending on the pH; NADH is used at the acidic pH range (6-6.9) and NADPH at the alkaline range (8.5-8.7). NADPH, however, is the probable reactant in biological systems.
SIMILARITY: Belongs to the Gfo/Idh/MocA family. Biliverdin reductase subfamily.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/blvra/";

-  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): BLVRA
CDC HuGE Published Literature: BLVRA

-  MalaCards Disease Associations
  MalaCards Gene Search: BLVRA
Diseases sorted by gene-association score: hyperbiliverdinemia* (1278), petroclival meningioma (16), nodular malignant melanoma (11), pneumothorax (11), skull base meningioma (8), skull base neoplasm (8), sagittal sinus thrombosis (7), intracranial sinus thrombosis (7), pulmonary valve insufficiency (6), cholestasis (4)
* = Manually curated disease association

-  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: 56.81 RPKM in Spleen
Total median expression: 1117.30 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 -29.5083-0.355 Picture PostScript Text
3' UTR -24.70107-0.231 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
IPR017094 - Biliverdin_Rdtase_A
IPR015249 - Biliverdin_Rdtase_cat
IPR016040 - NAD(P)-bd_dom
IPR000683 - Oxidoreductase_N

Pfam Domains:
PF01408 - Oxidoreductase family, NAD-binding Rossmann fold
PF09166 - Biliverdin reductase, catalytic

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains
55347 - Glyceraldehyde-3-phosphate dehydrogenase-like, C-terminal domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2H63 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P53004
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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 BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004074 biliverdin reductase activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016491 oxidoreductase activity
GO:0046872 metal ion binding

Biological Process:
GO:0042167 heme catabolic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  HM005341 - Homo sapiens clone HTL-T-28 testis tissue sperm-binding protein Li 61n mRNA, complete cds.
BC008456 - Homo sapiens biliverdin reductase A, mRNA (cDNA clone MGC:14706 IMAGE:4249842), complete cds.
BC005902 - Homo sapiens biliverdin reductase A, mRNA (cDNA clone MGC:14491 IMAGE:4282476), complete cds.
AK291862 - Homo sapiens cDNA FLJ75742 complete cds, highly similar to Homo sapiens biliverdin reductase A (BLVRA), mRNA.
X93086 - H.sapiens mRNA for biliverdin IX alpha reductase.
U34877 - Homo sapiens biliverdin-IX alpha reductase mRNA, complete cds.
KJ896500 - Synthetic construct Homo sapiens clone ccsbBroadEn_05894 BLVRA gene, encodes complete protein.
KJ896501 - Synthetic construct Homo sapiens clone ccsbBroadEn_05895 BLVRA gene, encodes complete protein.
JD163252 - Sequence 144276 from Patent EP1572962.
JD383266 - Sequence 364290 from Patent EP1572962.
JD113175 - Sequence 94199 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00860 - Porphyrin and chlorophyll metabolism

BioCyc Knowledge Library
PWY-5874 - heme degradation

BioCarta from NCI Cancer Genome Anatomy Project
h_il10Pathway - IL-10 Anti-inflammatory Signaling Pathway

Reactome (by CSHL, EBI, and GO)

Protein P53004 (Reactome details) participates in the following event(s):

R-HSA-189384 Biliverdin is reduced to bilirubin
R-HSA-189483 Heme degradation
R-HSA-189445 Metabolism of porphyrins
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K747, BIEA_HUMAN, BLVR, BVR, NM_000712, NP_001240752, O95019, P53004, Q86UX0, Q96QL4, Q9BRW8
UCSC ID: uc003tir.3
RefSeq Accession: NM_000712
Protein: P53004 (aka BIEA_HUMAN)
CCDS: CCDS5472.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000712.3
exon count: 8CDS single in 3' UTR: no RNA size: 1094
ORF size: 891CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1982.00frame shift in genome: no % Coverage: 98.81
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: 0# 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.