Format

Send to:

Choose Destination

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

Gene ID: 79901, updated on 10-Oct-2019

Summary

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
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

Genomic context

See CYBRD1 in Genome Data Viewer
Location:
2q31.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (171522233..171558129)
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

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 BioSystems

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
cell 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
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
cytochrome b reductase 1
Names
cytochrome b561 family, member A2
duodenal cytochrome b
ferric-chelate reductase 3

NCBI Reference Sequences (RefSeq)

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_001127383.2NP_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, CB266845, DA211209, DB000953
    Consensus CDS
    CCDS46449.1
    UniProtKB/Swiss-Prot
    Q53TN4
    Related
    ENSP00000364401.3, ENST00000375252.3
    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_001256909.2NP_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, ENST00000409484.5
    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_024843.4NP_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, AK027115, AL136693, AL834483, CB266845, CX866825, DB000953
    Consensus CDS
    CCDS2244.1
    UniProtKB/Swiss-Prot
    Q53TN4
    Related
    ENSP00000319141.4, ENST00000321348.9
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    171522233..171558129
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center