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Aliases for BLVRB Gene

Aliases for BLVRB Gene

  • Biliverdin Reductase B 2 3 4 5
  • Short Chain Dehydrogenase/Reductase Family 43U, Member 1 2 3
  • Biliverdin-IX Beta-Reductase 3 4
  • Green Heme-Binding Protein 3 4
  • NADPH-Dependent Diaphorase 3 4
  • NADPH-Flavin Reductase 3 4
  • BVR-B 3 4
  • GHBP 3 4
  • FLR 3 4
  • FR 3 4
  • Biliverdin Reductase B (Flavin Reductase (NADPH)) 2
  • Epididymis Secretory Protein Li 10 3
  • (Flavin Reductase (NADPH)) 2
  • Flavin Reductase (NADPH) 3
  • Flavin Reductase 2
  • EC 1.5.1.30 4
  • EC 1.3.1.24 4
  • HEL-S-10 3
  • SDR43U1 3
  • BVRB 3

External Ids for BLVRB Gene

Previous HGNC Symbols for BLVRB Gene

  • FLR

Previous GeneCards Identifiers for BLVRB Gene

  • GC19M041593
  • GC19M041345
  • GC19M045629
  • GC19M045645
  • GC19M040953
  • GC19M037389

Summaries for BLVRB Gene

Entrez Gene Summary for BLVRB Gene

  • The final step in heme metabolism in mammals is catalyzed by the cytosolic biliverdin reductase enzymes A and B (EC 1.3.1.24).[supplied by OMIM, Jul 2009]

GeneCards Summary for BLVRB Gene

BLVRB (Biliverdin Reductase B) is a Protein Coding gene. Diseases associated with BLVRB include Hypoganglionosis and Dystrophinopathies. Among its related pathways are Porphyrin and chlorophyll metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor and 3-beta-hydroxy-delta5-steroid dehydrogenase activity.

UniProtKB/Swiss-Prot for BLVRB Gene

  • Broad specificity oxidoreductase that catalyzes the NADPH-dependent reduction of a variety of flavins, such as riboflavin, FAD or FMN, biliverdins, methemoglobin and PQQ (pyrroloquinoline quinone). Contributes to heme catabolism and metabolizes linear tetrapyrroles. Can also reduce the complexed Fe(3+) iron to Fe(2+) in the presence of FMN and NADPH. In the liver, converts biliverdin to bilirubin.

Additional gene information for BLVRB Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BLVRB Gene

Genomics for BLVRB Gene

GeneHancer (GH) Regulatory Elements for BLVRB Gene

Promoters and enhancers for BLVRB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J040462 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 652.7 +0.6 628 4.5 CLOCK FEZF1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 BLVRB SPTBN4 ENSG00000269843 SNRPA HNRNPUL1 AKT2 CCDC97 ZNF780B FBL SERTAD3
GH19J040467 Enhancer 0.2 ENCODE 650.7 -1.7 -1692 0.1 BLVRB SPTBN4 GC19M040397
GH19J040830 Enhancer 1.5 Ensembl ENCODE dbSUPER 4.4 -366.9 -366947 4.6 PKNOX1 CLOCK FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 SNRPA HNRNPUL1 ENSG00000269843 FBL ITPKC ZNF780B CCDC97 CYP2G1P ZNF546 PSMC4
GH19J040818 Enhancer 1.3 Ensembl ENCODE dbSUPER 4.9 -353.3 -353296 2.2 SIN3A ZNF2 ZNF121 GLIS2 ZNF416 ZNF143 RUNX3 RXRA YY2 REST ZNF780B FBL ZNF546 CYP2G1P SNRPA HNRNPUL1 EGLN2 C19orf54 ITPKC BLVRB
GH19J040821 Enhancer 1.4 Ensembl ENCODE dbSUPER 4.2 -357.4 -357374 2.7 PKNOX1 ARNT FEZF1 YY1 ZNF766 REST ZNF592 MEF2D SMARCA4 GLIS1 PIR36050 ZNF780B ENSG00000269843 AKT2 NUMBL HNRNPUL1 SNRPA PSMC4 ZNF780A EGLN2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BLVRB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BLVRB gene promoter:

Genomic Locations for BLVRB Gene

Genomic Locations for BLVRB Gene
chr19:40,447,765-40,465,840
(GRCh38/hg38)
Size:
18,076 bases
Orientation:
Minus strand
chr19:40,953,691-40,971,747
(GRCh37/hg19)

Genomic View for BLVRB Gene

Genes around BLVRB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for BLVRB Gene

Proteins for BLVRB Gene

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

    Protein Symbol:
    P30043-BLVRB_HUMAN
    Recommended name:
    Flavin reductase (NADPH)
    Protein Accession:
    P30043
    Secondary Accessions:
    • A6NKD8
    • B2R5C6
    • P32078
    • P53005
    • Q32LZ2

    Protein attributes for BLVRB Gene

    Size:
    206 amino acids
    Molecular mass:
    22119 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for BLVRB Gene

neXtProt entry for BLVRB Gene

Post-translational modifications for BLVRB Gene

  • Ubiquitination at posLast=178178
  • Modification sites at PhosphoSitePlus

Other Protein References for BLVRB Gene

No data available for DME Specific Peptides for BLVRB Gene

Domains & Families for BLVRB Gene

Gene Families for BLVRB Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for BLVRB Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BLVRB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BLVRB: view

No data available for UniProtKB/Swiss-Prot for BLVRB Gene

Function for BLVRB Gene

Molecular function for BLVRB Gene

UniProtKB/Swiss-Prot Function:
Broad specificity oxidoreductase that catalyzes the NADPH-dependent reduction of a variety of flavins, such as riboflavin, FAD or FMN, biliverdins, methemoglobin and PQQ (pyrroloquinoline quinone). Contributes to heme catabolism and metabolizes linear tetrapyrroles. Can also reduce the complexed Fe(3+) iron to Fe(2+) in the presence of FMN and NADPH. In the liver, converts biliverdin to bilirubin.
UniProtKB/Swiss-Prot CatalyticActivity:
Reduced riboflavin + NADP(+) = riboflavin + NADPH.
UniProtKB/Swiss-Prot CatalyticActivity:
Bilirubin + NAD(P)(+) = biliverdin + NAD(P)H.
UniProtKB/Swiss-Prot EnzymeRegulation:
Mesobiliverdin acts as competitve inhibitor for flavin reduction, indicating that flavin and tetrapyrrole substrates compete for the same site.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=36 uM for NADP {ECO:0000269 PubMed:10620517, ECO:0000269 PubMed:7929092}; KM=5.6 mM for NADH {ECO:0000269 PubMed:10620517, ECO:0000269 PubMed:7929092}; KM=0.3 uM for biliverdin IX-beta {ECO:0000269 PubMed:10620517, ECO:0000269 PubMed:7929092}; KM=52 uM for FMN {ECO:0000269 PubMed:10620517, ECO:0000269 PubMed:7929092}; KM=125 uM for FAD {ECO:0000269 PubMed:10620517, ECO:0000269 PubMed:7929092}; KM=53 uM for riboflavin {ECO:0000269 PubMed:10620517, ECO:0000269 PubMed:7929092};
GENATLAS Biochemistry:
biliverdin reductase IX beta (21kDa),expressed in fetal liver

Enzyme Numbers (IUBMB) for BLVRB Gene

Phenotypes From GWAS Catalog for BLVRB Gene

Gene Ontology (GO) - Molecular Function for BLVRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004074 biliverdin reductase activity TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0042602 riboflavin reductase (NADPH) activity IEA,IDA 11224564
genes like me logo Genes that share ontologies with BLVRB: view
genes like me logo Genes that share phenotypes with BLVRB: view

Animal Models for BLVRB Gene

MGI Knock Outs for BLVRB:
  • Blvrb Blvrb<tm1(KOMP)Wtsi>

Animal Model Products

miRNA for BLVRB Gene

miRTarBase miRNAs that target BLVRB

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BLVRB Gene

Localization for BLVRB Gene

Subcellular locations from UniProtKB/Swiss-Prot for BLVRB Gene

Cytoplasm.

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 BLVRB gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BLVRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
GO:0043195 terminal bouton IEA --
genes like me logo Genes that share ontologies with BLVRB: view

Pathways & Interactions for BLVRB Gene

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

Pathways by source for BLVRB Gene

2 BioSystems pathways for BLVRB Gene
3 Reactome pathways for BLVRB Gene

Gene Ontology (GO) - Biological Process for BLVRB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042167 heme catabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with BLVRB: view

No data available for SIGNOR curated interactions for BLVRB Gene

Drugs & Compounds for BLVRB Gene

(40) Drugs for BLVRB Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Riboflavin Approved, Investigational, Vet_approved Nutra Target, product of 188
Flavin Mononucleotide Approved, Investigational Pharma Target 8
Methylene blue Approved, Investigational Pharma 111
FAD Approved Pharma 0

(36) Additional Compounds for BLVRB Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
15438-31-0
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
3-Deoxy-D-glycero-D-galacto-2-nonulosonic acid
  • 2-KDN
  • 2-keto-3-Deoxy-D-glycero-D-galacto-NONONate
  • 2-keto-3-Deoxy-D-glycero-D-galacto-NONONic acid
  • 2-oxo-3-Deoxy-D-glycero-galactononulosonate
  • 2-oxo-3-Deoxy-D-glycero-galactononulosonic acid
22594-61-2
FADH
  • 1,5-dihydro-FAD
  • DIHYDROFLAVINE-adenine dinucleotide
  • Flavin adenine dinucleotide (reduced)
  • 1,5-dihydro-P-5-Ester with adenosine
  • 1,5-dihydro-Riboflavin 5'-(trihydrogen diphosphate) p'->5'-ester with adenosine
1910-41-4
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with BLVRB: view

Transcripts for BLVRB Gene

mRNA/cDNA for BLVRB Gene

(348) Selected AceView cDNA sequences:
(4) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BLVRB Gene

Biliverdin reductase B (flavin reductase (NADPH)):
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c
SP1: - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5:
SP6:

Relevant External Links for BLVRB Gene

GeneLoc Exon Structure for
BLVRB
ECgene alternative splicing isoforms for
BLVRB

Expression for BLVRB Gene

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

mRNA differential expression in normal tissues according to GTEx for BLVRB Gene

This gene is overexpressed in Whole Blood (x7.4).

Protein differential expression in normal tissues from HIPED for BLVRB Gene

This gene is overexpressed in Spleen (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BLVRB Gene



Protein tissue co-expression partners for BLVRB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BLVRB Gene:

BLVRB

SOURCE GeneReport for Unigene cluster for BLVRB Gene:

Hs.515785

mRNA Expression by UniProt/SwissProt for BLVRB Gene:

P30043-BLVRB_HUMAN
Tissue specificity: Predominantly expressed in liver and erythrocytes. At lower levels in heart, lung, adrenal gland and cerebrum.

Evidence on tissue expression from TISSUES for BLVRB Gene

  • Nervous system(4.7)
  • Liver(4.6)
  • Blood(4.4)
  • Pancreas(4.3)
  • Bone marrow(2.3)
  • Intestine(2.3)
  • Lung(2.3)
  • Muscle(2.3)
genes like me logo Genes that share expression patterns with BLVRB: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for BLVRB Gene

Orthologs for BLVRB Gene

This gene was present in the common ancestor of animals.

Orthologs for BLVRB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BLVRB 34 33
  • 96.97 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BLVRB 34 33
  • 91.06 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BLVRB 34 33
  • 90.13 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Blvrb 16 34 33
  • 89.27 (n)
rat
(Rattus norvegicus)
Mammalia Blvrb 33
  • 87.8 (n)
oppossum
(Monodelphis domestica)
Mammalia BLVRB 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 71 (a)
OneToMany
-- 34
  • 47 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia BLVRB 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia blvrb 33
  • 63.3 (n)
Str.3936 33
zebrafish
(Danio rerio)
Actinopterygii blvrb 34 33 33
  • 63.18 (n)
OneToMany
BLVRB (2 of 2) 34
  • 50 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10073 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001321 33
  • 54.64 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9471 34 35 33
  • 48.77 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
OneToOne
Species where no ortholog for BLVRB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BLVRB Gene

ENSEMBL:
Gene Tree for BLVRB (if available)
TreeFam:
Gene Tree for BLVRB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BLVRB: view image

Paralogs for BLVRB Gene

Pseudogenes.org Pseudogenes for BLVRB Gene

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

No data available for Paralogs for BLVRB Gene

Variants for BLVRB Gene

Sequence variations from dbSNP and Humsavar for BLVRB Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000258318 -- 40,450,699(-) C/T intron_variant
rs1000400647 -- 40,463,023(-) C/G intron_variant
rs1000450109 -- 40,459,110(-) A/T intron_variant
rs1000504001 -- 40,463,958(-) G/A intron_variant
rs1001007305 -- 40,464,285(-) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
esv2658680 CNV deletion 23128226
esv3644348 CNV loss 21293372
esv3644349 CNV loss 21293372
esv3644350 CNV loss 21293372
nsv833831 CNV loss 17160897

Variation tolerance for BLVRB Gene

Residual Variation Intolerance Score: 88.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.74; 46.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BLVRB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BLVRB

SNP Genotyping and Copy Number Assay Products

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

Disorders for BLVRB Gene

MalaCards: The human disease database

(3) MalaCards diseases for BLVRB Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
hypoganglionosis
  • intestinal hypoganglionosis
dystrophinopathies
  • dystrophinopathy
hirschsprung disease 1
  • hirschsprung disease, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search BLVRB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BLVRB

genes like me logo Genes that share disorders with BLVRB: view

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

Publications for BLVRB Gene

  1. Computational and experimental studies on the catalytic mechanism of biliverdin-IXbeta reductase. (PMID: 18241201) Smith LJ … Mantle TJ (The Biochemical journal 2008) 3 4 22 58
  2. Structure of human biliverdin IXbeta reductase, an early fetal bilirubin IXbeta producing enzyme. (PMID: 11224564) Pereira PJ … Coll M (Nature structural biology 2001) 3 4 22 58
  3. Evidence that biliverdin-IX beta reductase and flavin reductase are identical. (PMID: 8687377) Shalloe F … Mantle TJ (The Biochemical journal 1996) 3 4 22 58
  4. Molecular cloning and expression of human liver biliverdin-IX beta reductase. (PMID: 8799475) Komuro A … Tomita M (Biological & pharmaceutical bulletin 1996) 3 4 22 58
  5. Mapping of the newly identified biliverdin-IX beta reductase gene (BLVRB) to human chromosome 19q13.13-->q13.2 by fluorescence in situ hybridization. (PMID: 7656592) Saito F … Nakajima H (Cytogenetics and cell genetics 1995) 2 3 22 58

Products for BLVRB Gene

Sources for BLVRB Gene

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