Q53TN4 (CYBR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 69.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Cytochrome b reductase 1 EC=1.-.-.- Alternative name(s): Duodenal cytochrome b Ferric-chelate reductase 3 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 286 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Ferric-chelate reductase that reduces Fe3+ to Fe2+. Present at the brush border of duodenal enterocytes where it probably reduces dietary Fe3+ thereby facilitating its transport into the mucosal cells. Uses ascorbate as electron donor. May be involved in extracellular ascorbate recycling in erythrocyte membranes. May also act as a ferrireductase in airway epithelial cells. Ref.11 Ref.16 Ref.17 Ref.19 |
| Cofactor | Binds 2 heme groups non-covalently By similarity. |
| Subcellular location | |
| Tissue specificity | Present in erythrocyte membranes (at protein level). Also expressed in respiratory epithelium. Ref.19 Ref.20 |
| Induction | |
| Polymorphism | Genetic variations in CYBRD1 may act as modifier of iron overload expression and account for the variance observed in serum ferritin levels in patients with hereditary hemochromatosis. |
| Sequence similarities | Contains 1 cytochrome b561 domain. |
| Sequence caution | The sequence CAG29366.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence CAG29367.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q53TN4-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q53TN4-2) The sequence of this isoform differs from the canonical sequence as follows: 66-286: IIVYRLPWTW...LDEAGQRSTM → SFRFFSLSAS...DSHQTAMETS | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q53TN4-3) The sequence of this isoform differs from the canonical sequence as follows: 1-64: MAMEGYWRFLALLGSALLVGFLSVIFALVWVLHYREGLGWDGSALEFNWHPVLMVTGFVFIQGI → MLDEGE | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 286 | 286 | Cytochrome b reductase 1 | PRO_0000314830 | |||||
Regions | |||||||||
| Transmembrane | 12 – 32 | 21 | Helical; Name=1; Potential | ||||||
| Transmembrane | 49 – 69 | 21 | Helical; Name=2; Potential | ||||||
| Transmembrane | 85 – 105 | 21 | Helical; Name=3; Potential | ||||||
| Transmembrane | 123 – 143 | 21 | Helical; Name=4; Potential | ||||||
| Transmembrane | 158 – 178 | 21 | Helical; Name=5; Potential | ||||||
| Transmembrane | 199 – 219 | 21 | Helical; Name=6; Potential | ||||||
| Domain | 15 – 220 | 206 | Cytochrome b561 | ||||||
Sites | |||||||||
| Metal binding | 50 | 1 | Iron (heme axial ligand) Potential | ||||||
| Metal binding | 86 | 1 | Iron (heme axial ligand) Potential | ||||||
| Metal binding | 108 | 1 | Iron (heme axial ligand) Potential | ||||||
| Metal binding | 120 | 1 | Iron (heme axial ligand) Potential | ||||||
| Metal binding | 159 | 1 | Iron (heme axial ligand) Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 285 | 1 | Phosphothreonine Ref.10 Ref.13 Ref.14 | ||||||
| Glycosylation | 231 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 64 | 64 | MAMEG…FIQGI → MLDEGE in isoform 3. | VSP_044945 | |||||
| Alternative sequence | 66 – 286 | 221 | IIVYR…QRSTM → SFRFFSLSASMGSAFSPSIS HAHTCLFWNCHLWNSDCNST YGIDRETDFFPERSCIQYIP ARRCFRKYAWPSDPGVRGPH FLDSHQTAMETS in isoform 2. | VSP_042039 | |||||
| Natural variant | 156 | 1 | M → T. Ref.2 Corresponds to variant rs16859487 [ dbSNP | Ensembl ]. | VAR_038065 | |||||
| Natural variant | 226 | 1 | R → H in some patients with hereditary hemochromatosis. Ref.7 Ref.15 Corresponds to variant rs62181680 [ dbSNP | Ensembl ]. | VAR_038066 | |||||
| Natural variant | 266 | 1 | S → N. Ref.1 Ref.3 Ref.5 Ref.6 Corresponds to variant rs10455 [ dbSNP | Ensembl ]. | VAR_038067 | |||||
Experimental info | |||||||||
| Sequence conflict | 7 | 1 | W → R in CAB66628. Ref.1 | ||||||
Sequences
| ||||||||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. Poustka A.Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ASN-266. Tissue: Brain. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), VARIANT THR-156. Tissue: Placenta, Small intestine, Synovium and Trachea. |
| [3] | NIEHS SNPs program Submitted (APR-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ASN-266. |
| [4] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ASN-266. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ASN-266. Tissue: Skin. |
| [7] | "Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload." Zaahl M.G., Merryweather-Clarke A.T., Kotze M.J., van der Merwe S., Warnich L., Robson K.J.H. Hum. Genet. 115:409-417(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 65-134 AND 187-285, VARIANT HIS-226. |
| [8] | "Duodenal cytochrome b and hephaestin expression in patients with iron deficiency and hemochromatosis." Zoller H., Theurl I., Koch R.O., McKie A.T., Vogel W., Weiss G. Gastroenterology 125:746-754(2003) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, INDUCTION. |
| [9] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| [10] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-285, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [11] | "A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis." Constantine C.C., Anderson G.J., Vulpe C.D., McLaren C.E., Bahlo M., Yeap H.L., Gertig D.M., Osborne N.J., Bertalli N.A., Beckman K.B., Chen V., Matak P., McKie A.T., Delatycki M.B., Olynyk J.K., English D.R., Southey M.C., Giles G.G. Gurrin L.C.Br. J. Haematol. 147:140-149(2009) [PubMed] [Europe PMC] [Abstract] Cited for: POLYMORPHISM, ROLE IN HEREDITARY HEMOCHROMATOSIS. |
| [12] | "Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [13] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-285, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [14] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-285, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [15] | "Gene symbol: DCYTB/CYBRD1. Disease: primary iron overload." Zaahl M.G., Merryweather-Clarke A.T., Kotze M.J., van der Merwe S., Warnich L., Robson K.J. Hum. Genet. 118:546-546(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HIS-226. |
| [16] | "Gene symbol: DCYTB/CYBRD1. Disease: primary iron overload." Zaahl M.G., Merryweather-Clarke A.T., Kotze M.J., van der Merwe S., Warnich L., Robson K.J. Hum. Genet. 118:548-549(2005) [PubMed] [Europe PMC] [Abstract] Cited for: ROLE IN HEREDITARY HEMOCHROMATOSIS. |
| [17] | "Gene symbol: DCYTB/CYBRD1. Disease: primary iron overload." Zaahl M.G., Merryweather-Clarke A.T., Kotze M.J., van der Merwe S., Warnich L., Robson K.J. Hum. Genet. 118:549-549(2005) [PubMed] [Europe PMC] [Abstract] Cited for: ROLE IN HEREDITARY HEMOCHROMATOSIS. |
| [18] | "Immunolocalization of duodenal cytochrome B: a relationship with circulating markers of iron status." Li A.C.Y., Warley A., Thoree V., Simpson R.J., McKie A.T., Kodjabashia K., Thompson R.P.H., Powell J.J. Eur. J. Clin. Invest. 36:890-898(2006) [PubMed] [Europe PMC] [Abstract] Cited for: INDUCTION. |
| [19] | "Human erythrocyte membranes contain a cytochrome b561 that may be involved in extracellular ascorbate recycling." Su D., May J.M., Koury M.J., Asard H. J. Biol. Chem. 281:39852-39859(2006) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY. |
| [20] | "Duodenal cytochrome b: a novel ferrireductase in airway epithelial cells." Turi J.L., Wang X., McKie A.T., Nozik-Grayck E., Mamo L.B., Crissman K., Piantadosi C.A., Ghio A.J. Am. J. Physiol. 291:L272-L280(2006) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AL136693 mRNA. Translation: CAB66628.1. AK027115 mRNA. Translation: BAB15661.1. AK128495 mRNA. Translation: BAC87466.1. AK291731 mRNA. Translation: BAF84420.1. AK301485 mRNA. Translation: BAG62999.1. AK316588 mRNA. Translation: BAG38176.1. DQ496101 Genomic DNA. Translation: ABF47090.1. AC007969 Genomic DNA. Translation: AAY14730.1. CH471058 Genomic DNA. Translation: EAX11210.1. BC065290 mRNA. Translation: AAH65290.1. AJ715523 Genomic DNA. Translation: CAG29366.1. Sequence problems. AJ715524 Genomic DNA. Translation: CAG29367.1. Sequence problems. |
| IPI | IPI00100199. IPI00917921. |
| RefSeq | NP_001120855.1. NM_001127383.1. NP_001243838.1. NM_001256909.1. NP_079119.3. NM_024843.3. |
| UniGene | Hs.741213. |
3D structure databases | |
| ProteinModelPortal | Q53TN4. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000319141. |
Protein family/group databases | |
| TCDB | 5.B.2.1.3. eukaryotic cytochrome b561 (Cytb561) family. |
PTM databases | |
| PhosphoSite | Q53TN4. |
Polymorphism databases | |
| DMDM | 74726934. |
Proteomic databases | |
| PaxDb | Q53TN4. |
| PRIDE | Q53TN4. |
Protocols and materials databases | |
| DNASU | 79901. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000321348; ENSP00000319141; ENSG00000071967. ENST00000375252; ENSP00000364401; ENSG00000071967. ENST00000409484; ENSP00000386739; ENSG00000071967. |
| GeneID | 79901. |
| KEGG | hsa:79901. |
| UCSC | uc002ugy.4. human. |
Organism-specific databases | |
| CTD | 79901. |
| GeneCards | GC02P172378. |
| H-InvDB | HIX0002588. |
| HGNC | HGNC:20797. CYBRD1. |
| HPA | HPA014757. |
| MIM | 605745. gene. |
| neXtProt | NX_Q53TN4. |
| PharmGKB | PA134970061. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG259716. |
| HOGENOM | HOG000143632. |
| HOVERGEN | HBG054164. |
| InParanoid | Q53TN4. |
| KO | K08370. |
| OMA | MEGYRGF. |
| PhylomeDB | Q53TN4. |
Enzyme and pathway databases | |
| BioCyc | MetaCyc:HS01046-MONOMER. |
| Reactome | REACT_15518. Transmembrane transport of small molecules. |
Gene expression databases | |
| ArrayExpress | Q53TN4. |
| Bgee | Q53TN4. |
| CleanEx | HS_CYBRD1. |
| Genevestigator | Q53TN4. |
Family and domain databases | |
| InterPro | IPR006593. Cyt_b561/ferric_Rdtase_TM. IPR004877. Cyt_b561_euk. [Graphical view] |
| Pfam | PF03188. Cytochrom_B561. 1 hit. [Graphical view] |
| SMART | SM00665. B561. 1 hit. [Graphical view] |
| PROSITE | PS50939. CYTOCHROME_B561. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | CYBRD1. human. |
| GenomeRNAi | 79901. |
| NextBio | 69747. |
| SOURCE | Search... |
Entry information
| Entry name | CYBR1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q53TN4 Secondary accession number(s): B2RE79 Q9H5G5 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 2 Human chromosome 2: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
