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    BLVRA biliverdin reductase A [ Homo sapiens (human) ]

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

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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_000712.4NP_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:18125
      GFO_IDH_MocA; Oxidoreductase family, NAD-binding Rossmann fold
      pfam09166
      Location:133243
      Biliv-reduc_cat; Biliverdin reductase, catalytic
    2. NM_001253823.2NP_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:18125
      GFO_IDH_MocA; Oxidoreductase family, NAD-binding Rossmann fold
      pfam09166
      Location:133243
      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_011515474.3XP_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:18125
      GFO_IDH_MocA; Oxidoreductase family, NAD-binding Rossmann fold
      pfam09166
      Location:133243
      Biliv-reduc_cat; Biliverdin reductase, catalytic
    2. XM_024446867.2XP_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:18125
      GFO_IDH_MocA; Oxidoreductase family, NAD-binding Rossmann fold
      pfam09166
      Location:133243
      Biliv-reduc_cat; Biliverdin reductase, catalytic
    3. XM_017012520.3XP_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:18125
      GFO_IDH_MocA; Oxidoreductase family, NAD-binding Rossmann fold
      pfam09166
      Location:133243
      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_054358795.1XP_054214770.1  biliverdin reductase A isoform X1

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

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

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