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    BLVRA biliverdin reductase A [ Homo sapiens (human) ]

    Gene ID: 644, updated on 27-Nov-2024

    Summary

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    Official Symbol
    BLVRAprovided by HGNC
    Official Full Name
    biliverdin reductase Aprovided by HGNC
    Primary source
    HGNC:HGNC:1062
    See related
    Ensembl:ENSG00000106605 MIM:109750; AllianceGenome:HGNC:1062
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BVR; BLVR; BVRA; BVRalpha
    Summary
    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]
    Expression
    Ubiquitous expression in spleen (RPKM 33.2), lung (RPKM 23.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BLVRA in Genome Data Viewer
    Location:
    7p13
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (43758122..43807342)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (43915726..43965608)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (43798279..43846941)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:43593671-43594870 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18123 Neighboring gene lncRNA upregulator of antiviral response interferon signaling Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:43616728-43617927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25911 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_99082 Neighboring gene Sharpr-MPRA regulatory region 11578 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:43686409-43687270 Neighboring gene Sharpr-MPRA regulatory region 11574 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:43688133-43688994 Neighboring gene serine/threonine kinase 17a Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25913 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:43691438-43692181 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18125 Neighboring gene NFE2L2 motif-containing MPRA enhancer 272 Neighboring gene cytochrome c oxidase assembly factor 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:43769138-43769866 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:43768408-43769137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25915 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:43789145-43789664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:43789665-43790184 Neighboring gene uncharacterized LOC107986727 Neighboring gene CRISPRi-validated cis-regulatory element chr7.1855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25917 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25918 Neighboring gene Sharpr-MPRA regulatory region 4653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18128 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_99190 Neighboring gene URGCP-MRPS24 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18129 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18130 Neighboring gene uncharacterized LOC124901620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25921 Neighboring gene mitochondrial ribosomal protein S24

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Reduced biliverdin reductase-A levels are associated with early alterations of insulin signaling in obesity. Cimini FA, et al. Biochim Biophys Acta Mol Basis Dis, 2019 Jun 1. PMID 30826467
    2. Biliverdin reductase A in the prevention of cellular senescence against oxidative stress. Kim SY, et al. Exp Mol Med, 2011 Jan 31. PMID 21099244, Free PMC Article
    3. Biliverdin reductase--a protein levels and activity in the brains of subjects with Alzheimer disease and mild cognitive impairment. Barone E, et al. Biochim Biophys Acta, 2011 Apr. PMID 21241799, Free PMC Article
    4. A homozygous nonsense mutation (c.214C->A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis. Nytofte NS, et al. J Med Genet, 2011 Apr. PMID 21278388
    5. Characterization of the human biliverdin reductase gene structure and regulatory elements: promoter activity is enhanced by hypoxia and suppressed by TNF-alpha-activated NF-kappaB. Gibbs PE, et al. FASEB J, 2010 Sep. PMID 20410444, Free PMC Article

    See all (100) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. UGT1A1 and BLVRA allele and genotype variants in neonatal patients with hyperbilirubinemia in southern China.
      Title: UGT1A1 and BLVRA allele and genotype variants in neonatal patients with hyperbilirubinemia in southern China.
    2. BLVRA exerts its biological effects to induce malignant properties of hepatocellular carcinoma cells via Wnt/beta-catenin pathway.
      Title: BLVRA exerts its biological effects to induce malignant properties of hepatocellular carcinoma cells via Wnt/β-catenin pathway.
    3. Associations between UGT1A1, SLCO1B1, SLCO1B3, BLVRA and HMOX1 polymorphisms and susceptibility to neonatal severe hyperbilirubinemia in Chinese Han population.
      Title: Associations between UGT1A1, SLCO1B1, SLCO1B3, BLVRA and HMOX1 polymorphisms and susceptibility to neonatal severe hyperbilirubinemia in Chinese Han population.
    4. Biliverdin reductase-A protein levels are reduced in type 2 diabetes and are associated with poor glycometabolic control.
      Title: Biliverdin reductase-A protein levels are reduced in type 2 diabetes and are associated with poor glycometabolic control.
    5. Reduced Biliverdin Reductase-A Expression in Visceral Adipose Tissue is Associated with Adipocyte Dysfunction and NAFLD in Human Obesity.
      Title: Reduced Biliverdin Reductase-A Expression in Visceral Adipose Tissue is Associated with Adipocyte Dysfunction and NAFLD in Human Obesity.
    6. Associations between G6PD, OATP1B1 and BLVRA variants and susceptibility to neonatal hyperbilirubinaemia in a Chinese Han population.
      Title: Associations between G6PD, OATP1B1 and BLVRA variants and susceptibility to neonatal hyperbilirubinaemia in a Chinese Han population.
    7. TLR4 counteracts BVRA signaling in human leukocytes via differential regulation of AMPK, mTORC1 and mTORC2.
      Title: TLR4 counteracts BVRA signaling in human leukocytes via differential regulation of AMPK, mTORC1 and mTORC2.
    8. Biliverdin reductase deficiency triggers an endothelial-to-mesenchymal transition in human endothelial cells
      Title: Biliverdin reductase deficiency triggers an endothelial-to-mesenchymal transition in human endothelial cells.
    9. Reduced biliverdin reductase-A levels are associated with early alterations of insulin signaling in obesity.
      Title: Reduced biliverdin reductase-A levels are associated with early alterations of insulin signaling in obesity.
    10. Data found that BVR-A interacts with BACE1, and its loss would favor the CKI-mediated phosphorylation of BACE1 and the associated increased Abeta production along with the alteration of brain insulin signaling. These results suggest that the impairment of BVR-A is an early molecular event contributing to both the onset of brain insulin resistance and the increased Abeta production observed in Alzheimer disease.
      Title: Biliverdin reductase-A impairment links brain insulin resistance with increased Aβ production in an animal model of aging: Implications for Alzheimer disease.
    Submit: New GeneRIF Correction See all GeneRIFs (37)

    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

    Associated conditions

    Description Tests
    Hyperbiliverdinemia
    MedGen: C3279964 OMIM: 614156 GeneReviews: Not available
    		Compare labs

    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 PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables biliberdin reductase (NAD+) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables biliverdin reductase (NADP+) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables biliverdin reductase [NAD(P)+] activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables biliverdin reductase [NAD(P)+] activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in heme catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    biliverdin reductase A
    Names
    BVR A
    biliverdin reductase IXalpha
    biliverdin-IX alpha-reductase
    testis tissue sperm-binding protein Li 61n
    NP_000703.2
    NP_001240752.1
    XP_011513776.1
    XP_016868009.1
    XP_024302635.1
    XP_054214770.1
    XP_054214771.1
    XP_054214772.1
    XP_054214773.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_031876.1 RefSeqGene

      Range
      5008..53670
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000712.4 → NP_000703.2  biliverdin reductase A

      See identical proteins and their annotated locations for NP_000703.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      BM710258, U34877, X93086
      Consensus CDS
      CCDS5472.1
      UniProtKB/Swiss-Prot
      A8K747, O95019, P53004, Q86UX0, Q96QL4, Q9BRW8
      UniProtKB/TrEMBL
      A0A140VJF4
      Related
      ENSP00000265523.4, ENST00000265523.9
      Conserved Domains (2) summary
      pfam01408
      Location:18 → 125
      GFO_IDH_MocA; Oxidoreductase family, NAD-binding Rossmann fold
      pfam09166
      Location:133 → 243
      Biliv-reduc_cat; Biliverdin reductase, catalytic

    2. NM_001253823.2 → NP_001240752.1  biliverdin reductase A

      See identical proteins and their annotated locations for NP_001240752.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an additional 5' non-coding exon compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK291862, BM710258, CA418616
      Consensus CDS
      CCDS5472.1
      UniProtKB/Swiss-Prot
      A8K747, O95019, P53004, Q86UX0, Q96QL4, Q9BRW8
      UniProtKB/TrEMBL
      A0A140VJF4
      Related
      ENSP00000385757.1, ENST00000402924.5
      Conserved Domains (2) summary
      pfam01408
      Location:18 → 125
      GFO_IDH_MocA; Oxidoreductase family, NAD-binding Rossmann fold
      pfam09166
      Location:133 → 243
      Biliv-reduc_cat; Biliverdin reductase, catalytic

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      43758122..43807342
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515474.3 → XP_011513776.1  biliverdin reductase A isoform X1

      See identical proteins and their annotated locations for XP_011513776.1

      UniProtKB/Swiss-Prot
      A8K747, O95019, P53004, Q86UX0, Q96QL4, Q9BRW8
      UniProtKB/TrEMBL
      A0A140VJF4
      Conserved Domains (2) summary
      pfam01408
      Location:18 → 125
      GFO_IDH_MocA; Oxidoreductase family, NAD-binding Rossmann fold
      pfam09166
      Location:133 → 243
      Biliv-reduc_cat; Biliverdin reductase, catalytic

    2. XM_024446867.2 → XP_024302635.1  biliverdin reductase A isoform X1

      UniProtKB/Swiss-Prot
      A8K747, O95019, P53004, Q86UX0, Q96QL4, Q9BRW8
      UniProtKB/TrEMBL
      A0A140VJF4
      Conserved Domains (2) summary
      pfam01408
      Location:18 → 125
      GFO_IDH_MocA; Oxidoreductase family, NAD-binding Rossmann fold
      pfam09166
      Location:133 → 243
      Biliv-reduc_cat; Biliverdin reductase, catalytic

    3. XM_017012520.3 → XP_016868009.1  biliverdin reductase A isoform X1

      UniProtKB/Swiss-Prot
      A8K747, O95019, P53004, Q86UX0, Q96QL4, Q9BRW8
      UniProtKB/TrEMBL
      A0A140VJF4
      Conserved Domains (2) summary
      pfam01408
      Location:18 → 125
      GFO_IDH_MocA; Oxidoreductase family, NAD-binding Rossmann fold
      pfam09166
      Location:133 → 243
      Biliv-reduc_cat; Biliverdin reductase, catalytic

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      43915726..43965608
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358795.1 → XP_054214770.1  biliverdin reductase A isoform X1

    2. XM_054358796.1 → XP_054214771.1  biliverdin reductase A isoform X1

    3. XM_054358798.1 → XP_054214773.1  biliverdin reductase A isoform X1

    4. XM_054358797.1 → XP_054214772.1  biliverdin reductase A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P53004.2 GenPept UniProtKB/Swiss-Prot:P53004

    Gene LinkOut

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