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

Gene ID: 79901, updated on 12-Nov-2024

Summary

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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; AllianceGenome:HGNC:20797
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
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Genomic context

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See CYBRD1 in Genome Data Viewer
Location:
2q31.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (171522233..171558129)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (171999382..172035283)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (172378743..172414639)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene death associated protein 3 pseudogene 2 Neighboring gene CRISPRi-validated cis-regulatory element chr2.5458 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16758 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12103 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12104 Neighboring gene ribosomal protein S15 pseudogene 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:172424417-172424588 Neighboring gene ribosomal protein L21 pseudogene 38 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16759 Neighboring gene dynein cytoplasmic 1 intermediate chain 2

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 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. Duodenal cytochrome B expression stimulates iron uptake by human intestinal epithelial cells. Latunde-Dada GO, et al. J Nutr, 2008 Jun. PMID 18492824
  2. Analysis of polymorphism and hepatic expression of duodenal cytochrome b in chronic hepatitis C. Rudnicka A, et al. J Gastroenterol Hepatol, 2017 Feb. PMID 27439017
  3. DCYTB is a predictor of outcome in breast cancer that functions via iron-independent mechanisms. Lemler DJ, et al. Breast Cancer Res, 2017 Mar 7. PMID 28270217, Free PMC Article
  4. Duodenal cytochrome b (Cybrd1) ferric reductase functional studies in cells. Schlottmann F, et al. Metallomics, 2017 Oct 18. PMID 28937159
  5. Structural basis for promotion of duodenal iron absorption by enteric ferric reductase with ascorbate. Ganasen M, et al. Commun Biol, 2018. PMID 30272000, Free PMC Article

See all (43) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. EGFR upregulates miRNA subset to inhibit CYBRD1 and cause DDP resistance in gastric cancer.
    Title: EGFR upregulates miRNA subset to inhibit CYBRD1 and cause DDP resistance in gastric cancer.
  2. DDX17 induces epithelial-mesenchymal transition and metastasis through the miR-149-3p/CYBRD1 pathway in colorectal cancer.
    Title: DDX17 induces epithelial-mesenchymal transition and metastasis through the miR-149-3p/CYBRD1 pathway in colorectal cancer.
  3. miR-423-3p activates FAK signaling pathway to drive EMT process and tumor growth in lung adenocarcinoma through targeting CYBRD1.
    Title: miR-423-3p activates FAK signaling pathway to drive EMT process and tumor growth in lung adenocarcinoma through targeting CYBRD1.
  4. Studied the effect of iron supplements containing Lactobacillus plantarum on ferric iron metabolism and upregulation of duodenal cytochrome b ferric-chelate reductase 3 (DCTYB) in Caco-2 and HT-29 MTX cell lines.
    Title: Iron Supplements Containing Lactobacillus plantarum 299v Increase Ferric Iron and Up-regulate the Ferric Reductase DCYTB in Human Caco-2/HT29 MTX Co-Cultures.
  5. Single nucleotide polymorphism in CYBRD1 gene is associated with hemochromatosis.
    Title: Duodenal cytochrome b (Cybrd1) ferric reductase functional studies in cells.
  6. CYBRD1 has an involvement in iron homeostasis in chronic hepatitis C.
    Title: Analysis of polymorphism and hepatic expression of duodenal cytochrome b in chronic hepatitis C.
  7. DCYTB is an important predictor of outcome and is associated with response to therapy in breast cancer patients.
    Title: DCYTB is a predictor of outcome in breast cancer that functions via iron-independent mechanisms.
  8. Polymorphisms in CYBRD1 modulates iron phenotype in HFE p.C282Y homozygous hemochromatosis.
    Title: CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients.
  9. Letter: report mutations in CYBRD1 promoter in and possible role in iron hemostasis in patients with porphyria cutanea tarda.
    Title: Iron homeostasis in porphyria cutanea tarda: mutation analysis of promoter regions of CP, CYBRD1, HAMP and SLC40A1.
  10. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.
Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

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

Clone Names

  • FLJ23462

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables oxidoreductase activity, acting on metal ions IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transmembrane ascorbate ferrireductase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables transmembrane monodehydroascorbate reductase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in ascorbate homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in intracellular iron ion homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in multicellular organismal-level iron ion homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in reductive iron assimilation IC
Inferred by Curator
more info
 PubMed 
involved_in response to iron ion IEA
Inferred from Electronic Annotation
more info
  
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in brush border membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
is_active_in lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
plasma membrane ascorbate-dependent reductase CYBRD1
Names
cytochrome b561 family, member A2
duodenal cytochrome b
ferric-chelate reductase 3
NP_001120855.1
NP_001243838.1
NP_079119.3

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)

  1. NM_001127383.2 → NP_001120855.1  plasma membrane ascorbate-dependent reductase CYBRD1 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:36 → 65
    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_001256909.2 → NP_001243838.1  plasma membrane ascorbate-dependent reductase CYBRD1 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:4 → 130
    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_024843.4 → NP_079119.3  plasma membrane ascorbate-dependent reductase CYBRD1 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
    B2RE79, B4DWD7, Q53TN4, Q6KC16, Q6KC17, Q6P147, Q6ZR51, Q9H0Q8, Q9H5G5
    Related
    ENSP00000319141.4, ENST00000321348.9
    Conserved Domains (1) summary
    cd08765
    Location:36 → 188
    Cyt_b561_CYBRD1; Vertebrate cytochrome b(561), CYBRD1 gene product

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_000002.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    171999382..172035283
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q53TN4.1 GenPept UniProtKB/Swiss-Prot:Q53TN4

Gene LinkOut

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