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    CYBRD1 cytochrome b reductase 1 [ Homo sapiens (human) ]

    Gene ID: 79901, updated on 10-Feb-2018
    Official Symbol
    CYBRD1provided by HGNC
    Official Full Name
    cytochrome b reductase 1provided by HGNC
    Primary source
    HGNC:HGNC:20797
    See related
    Ensembl:ENSG00000071967 MIM:605745; Vega:OTTHUMG00000132260
    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
    DCYTB; FRRS3; CYB561A2
    Summary
    This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in thyroid (RPKM 155.0), small intestine (RPKM 130.0) and 22 other tissues See more
    Orthologs
    Location:
    2q31.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (171522247..171558133)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (172378757..172414643)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene death associated protein 3 pseudogene 2 Neighboring gene ribosomal protein S15 pseudogene 4 Neighboring gene ribosomal protein L21 pseudogene 38 Neighboring gene dynein cytoplasmic 1 intermediate chain 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Iron uptake and transport, organism-specific biosystem (from REACTOME)
      Iron uptake and transport, organism-specific biosystemThe transport of iron between cells is mediated by transferrin. However, iron can also enter and leave cells not only by itself, but also in the form of heme and siderophores. When entering the cell ...
    • Mineral absorption, organism-specific biosystem (from KEGG)
      Mineral absorption, organism-specific biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
    • Mineral absorption, conserved biosystem (from KEGG)
      Mineral absorption, conserved biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ23462

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ferric-chelate reductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    oxidoreductase activity, oxidizing metal ions TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular iron ion homeostasis TAS
    Traceable Author Statement
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    response to iron ion IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    brush border membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome HDA PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    cytochrome b reductase 1
    Names
    cytochrome b561 family, member A2
    duodenal cytochrome b
    ferric-chelate reductase 3

    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)

    1. NM_001127383.1NP_001120855.1  cytochrome b reductase 1 isoform 2

      See identical proteins and their annotated locations for NP_001120855.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon that results in a frameshift in the central and 3' coding regions, compared to variant 1. The encoded isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AC007969, AK027115, AK128495, AL136693, BP418883, CB266594, CB266845, DA211209, DB000953, DB235339
      Consensus CDS
      CCDS46449.1
      UniProtKB/Swiss-Prot
      Q53TN4
      Related
      ENSP00000364401.3, OTTHUMP00000205025, ENST00000375252.3, OTTHUMT00000333780
      Conserved Domains (1) summary
      cl23723
      Location:3665
      Cytochrome_b_N; Cytochrome b (N-terminus)/b6/petB: Cytochrome b is a subunit of cytochrome bc1, an 11-subunit mitochondrial respiratory enzyme. Cytochrome b spans the mitochondrial membrane with 8 transmembrane helices (A-H) in eukaryotes. In plants and cyanobacteria, ...
    2. NM_001256909.1NP_001243838.1  cytochrome b reductase 1 isoform 3

      See identical proteins and their annotated locations for NP_001243838.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' exon and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (3) has a distinct and shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC007969, AK026654, AK301485
      Consensus CDS
      CCDS58736.1
      UniProtKB/Swiss-Prot
      Q53TN4
      Related
      ENSP00000386739.1, OTTHUMP00000205024, ENST00000409484.5, OTTHUMT00000333779
      Conserved Domains (1) summary
      cl23723
      Location:4130
      Cytochrome_b_N; Cytochrome b (N-terminus)/b6/petB: Cytochrome b is a subunit of cytochrome bc1, an 11-subunit mitochondrial respiratory enzyme. Cytochrome b spans the mitochondrial membrane with 8 transmembrane helices (A-H) in eukaryotes. In plants and cyanobacteria, ...
    3. NM_024843.3NP_079119.3  cytochrome b reductase 1 isoform 1

      See identical proteins and their annotated locations for NP_079119.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC007969, AK026654, AK027115, AL136693, AL834483, CB266594, CB266845, CX866825, DB000953, DB235339
      Consensus CDS
      CCDS2244.1
      UniProtKB/Swiss-Prot
      Q53TN4
      Related
      ENSP00000319141.4, OTTHUMP00000163092, ENST00000321348.8, OTTHUMT00000255344
      Conserved Domains (1) summary
      cd08765
      Location:36188
      Cyt_b561_CYBRD1; Vertebrate cytochrome b(561), CYBRD1 gene product

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      171522247..171558133
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      172385534..172421413
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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