BLVRB biliverdin reductase B [Homo sapiens (human)] - Gene

Summary

Official Symbol: BLVRBprovided by HGNC
Official Full Name: biliverdin reductase Bprovided by HGNC
Primary source: HGNC:HGNC:1063
See related: Ensembl:ENSG00000090013 MIM:600941
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FLR; BVRB; SDR43U1; HEL-S-10
Summary: 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]
Expression: Broad expression in bone marrow (RPKM 178.6), spleen (RPKM 63.9) and 23 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 19q13.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
109.20190905	current	GRCh38.p13 (GCF_000001405.39)	19	NC_000019.10 (40447768..40465745, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (40953691..40971725, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Early stages of lineage fate potential require glutamine anaplerotic functions and an intact Pentose phosphate pathway, which are, in part, regulated by BLVRB activity. In principle, BLVRB inhibition represents an alternative strategy for modulating cellular glutamine utilization with consequences for cancer and hematopoietic metabolism.
Title: Heme degradation enzyme biliverdin IXβ reductase is required for stem cell glutamine metabolism.
These results provide promising chemical scaffolds for the development of enhanced BLVRB inhibitors and identify chemical probes to better dissect the role of biliverdins, alternative substrates, and BLVRB function in physiologically relevant cellular contexts.
Title: <i>In silico</i> and crystallographic studies identify key structural features of biliverdin IXβ reductase inhibitors having nanomolar potency.
These data define the first physiologically relevant function of BLVRB and implicate its activity and/or heme-regulated BV tetrapyrrole(s) in a unique redox-regulated bioenergetic pathway.
Title: BLVRB redox mutation defines heme degradation in a metabolic pathway of enhanced thrombopoiesis in humans.
miR-127-5p suppressed NF-kappaB activity by directly targeting BLVRB in hepatocellular carcinoma cells.
Title: MicroRNA-127-5p targets the biliverdin reductase B/nuclear factor-κB pathway to suppress cell growth in hepatocellular carcinoma cells.
Data suggest that isoenzymes BVRA and BVRB play different roles in energy metabolism and in pathogenesis of abdominal obesity and hypertriglyceridemia. [REVIEW]
Title: Biliverdin reductase isozymes in metabolism.
quantum mechanics/molecular mechanics potential energy surfaces show that the lowest energy pathway proceeds with a positively charged pyrrole intermediate via two transition states
Title: Computational and experimental studies on the catalytic mechanism of biliverdin-IXbeta reductase.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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Heme degradation, organism-specific biosystem (from REACTOME)
Heme degradation, organism-specific biosystemMost of the heme degraded in humans comes from hemoglobin. Approximately 6-8 grams of hemoglobin is degraded daily which is equivalent to approximately 300 milligrams of heme per day. Heme is not rec...
Metabolic pathways, organism-specific biosystem (from KEGG)
Metabolic pathways, organism-specific biosystem
Metabolic pathways
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of porphyrins, organism-specific biosystem (from REACTOME)
Metabolism of porphyrins, organism-specific biosystemPorphyrins are heterocyclic macrocycles, consisting of four pyrrole subunits (tetrapyrrole) linked by four methine (=CH-) bridges. The extensive conjugated porphyrin macrocycle is chromatic and the n...
NRF2 pathway, organism-specific biosystem (from WikiPathways)
NRF2 pathway, organism-specific biosystemNRF2 is part of a group of transcription factors called nuclear receptors. It is activated under oxidative stress conditions and subsequently activates several antioxidative genes and proteins.
Porphyrin and chlorophyll metabolism, organism-specific biosystem (from KEGG)
Porphyrin and chlorophyll metabolism, organism-specific biosystem
Porphyrin and chlorophyll metabolism
Porphyrin and chlorophyll metabolism, conserved biosystem (from KEGG)
Porphyrin and chlorophyll metabolism, conserved biosystem
Porphyrin and chlorophyll metabolism
Riboflavin metabolism, organism-specific biosystem (from KEGG)
Riboflavin metabolism, organism-specific biosystem
Riboflavin metabolism
Riboflavin metabolism, conserved biosystem (from KEGG)
Riboflavin metabolism, conserved biosystem
Riboflavin metabolism
heme degradation, organism-specific biosystem (from BIOCYC)
heme degradation, organism-specific biosystemThe heme degradation pathway in animals ensures the recycling of iron. The first enzyme in this pathway, : HS02027-MONOMER, catayzes the opening of the tetrapyrrole macrocycle of : PROTOHEME, forming...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A009D36 (e-PCR)
- UniSTS:3860

SHGC-33106 (e-PCR)
- UniSTS:40483

RH16416 (e-PCR)
- UniSTS:25928

RH46045 (e-PCR)
- UniSTS:28497

NoName (e-PCR)
- UniSTS:488045

Homology

Homologs of the BLVRB gene: The BLVRB gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 239 organisms have orthologs with human gene BLVRB
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
biliverdin reductase activity	IDA Inferred from Direct Assay more info	PubMed
riboflavin reductase (NADPH) activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
heme catabolic process	IDA Inferred from Direct Assay more info	PubMed
heme catabolic process	TAS Traceable Author Statement more info
oxidation-reduction process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytosol	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
extracellular exosome	HDA more info	PubMed
intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
nucleoplasm	IDA Inferred from Direct Assay more info
plasma membrane	IDA Inferred from Direct Assay more info
terminal bouton	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: flavin reductase (NADPH)

Names: BVR-B; FR; GHBP; NADPH-dependent diaphorase; NADPH-flavin reductase; biliverdin-IX beta-reductase; epididymis secretory protein Li 10; green heme-binding protein; short chain dehydrogenase/reductase family 43U, member 1

NP_000704.1

EC 1.3.1.24

EC 1.5.1.30

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_000713.3 → NP_000704.1 flavin reductase (NADPH)

See identical proteins and their annotated locations for NP_000704.1

Status: VALIDATED

Source sequence(s)

AC010271, BC109371, BG340491, BU528444

Consensus CDS

CCDS33029.1

UniProtKB/Swiss-Prot

P30043

UniProtKB/TrEMBL

V9HWI1

Related

ENSP00000263368.3, ENST00000263368.9

Conserved Domains (1) summary

cd05244
Location:5 → 200

BVR-B_like_SDR_a; biliverdin IX beta reductase (BVR-B, aka flavin reductase)-like proteins; atypical (a) SDRs