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

    Gene ID: 79901, updated on 2-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
    mouse all
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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. Functional characterization of human duodenal cytochrome b (Cybrd1): Redox properties in relation to iron and ascorbate metabolism. Oakhill JS, et al. Biochim Biophys Acta, 2008 Mar. PMID 18194661
    3. CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients. Pelucchi S, et al. Haematologica, 2012 Dec. PMID 22773607, Free PMC Article
    4. Recombinant expression and initial characterization of the putative human enteric ferric reductase Dcytb. Ludwiczek S, et al. Biochemistry, 2008 Jan 15. PMID 18092813
    5. 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

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. Single nucleotide polymorphism in CYBRD1 gene is associated with hemochromatosis.
      Title: Duodenal cytochrome b (Cybrd1) ferric reductase functional studies in cells.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. The results of this study confirm that Dcytb can act as a ferric reductase that stimulates iron uptake in Caco-2 cells.
      Title: Duodenal cytochrome B expression stimulates iron uptake by human intestinal epithelial cells.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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