Reviewed,
UniProtKB/Swiss-Prot Q6BCY4 (NB5R2_HUMAN)
Last modified
January 19, 2010.
Version 45.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: NADH-cytochrome b5 reductase 2 Short name=b5R.2 EC=1.6.2.2 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Complete 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 | 276 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction By similarity. Responsible for NADH-dependent lucigenin chemiluminescence in spermatozoa by reducing both lucigenin and 2-[4-iodophenyl]-3-[4-nitrophenyl]-5-[2,4-disulfophenyl]-2H tetrazolium monosodium salt (WST-1). Ref.2 |
| Catalytic activity | NADH + 2 ferricytochrome b5 = NAD+ + H+ + 2 ferrocytochrome b5. |
| Cofactor | FAD By similarity. |
| Tissue specificity | Restricted expression. Ref.1 |
| Sequence similarities | Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family. Contains 1 FAD-binding FR-type domain. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Lipid synthesis Steroid biosynthesis Sterol biosynthesis |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Ligand | FAD Flavoprotein NAD |
| Molecular function | Oxidoreductase |
| PTM | Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | oxidation reduction Ref.1 Inferred from direct assay. Source: UniProtKB sterol biosynthetic processInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | membrane Ref.1 Inferred from direct assay. Source: UniProtKB soluble fraction Ref.1Non-traceable author statement. Source: UniProtKB |
| Molecular function | cytochrome-b5 reductase activity Ref.1 Inferred from direct assay. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6BCY4-1) 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: Q6BCY4-2) The sequence of this isoform differs from the canonical sequence as follows: 221-276: WKYSSGFVTADMIKEHLPPPAKSTLILVCGPPPLIQTAAHPNLEKLGYTQDMIFTY → PWSAEGATLLSNSAQFH | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 276 | 276 | NADH-cytochrome b5 reductase 2 | PRO_0000287548 | |||||
Regions | |||||||||
| Domain | 15 – 127 | 113 | FAD-binding FR-type | ||||||
| Nucleotide binding | 107 – 137 | 31 | FAD By similarity | ||||||
| Nucleotide binding | 146 – 181 | 36 | FAD By similarity | ||||||
Amino acid modifications | |||||||||
| Modified residue | 177 | 1 | Phosphothreonine Ref.5 | ||||||
Natural variations | |||||||||
| Alternative sequence | 221 – 276 | 56 | WKYSS…MIFTY → PWSAEGATLLSNSAQFH in isoform 2. | VSP_025559 | |||||
| Natural variant | 15 | 1 | E → A: dbSNP rs11041525. | VAR_032321 | |||||
| Natural variant | 209 | 1 | N → D: dbSNP rs12801394. Ref.1 Ref.3 Ref.4 | VAR_032322 | |||||
Experimental info | |||||||||
| Sequence conflict | 130 | 1 | G → R in AAF04811. Ref.1 | ||||||
| Sequence conflict | 253 | 1 | P → T in AAF04811. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification of a cytochrome b-type NAD(P)H oxidoreductase ubiquitously expressed in human cells." Zhu H., Qiu H., Yoon H.-W., Huang S., Bunn H.F. Proc. Natl. Acad. Sci. U.S.A. 96:14742-14747(1999) [PubMed: 10611283] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT ASP-209. |
| [2] | "Identification of cytochrome-b5 reductase as the enzyme responsible for NADH-dependent lucigenin chemiluminescence in human spermatozoa." Baker M.A., Krutskikh A., Curry B.J., Hetherington L., Aitken R.J. Biol. Reprod. 73:334-342(2005) [PubMed: 15858218] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), IDENTIFICATION BY MASS SPECTROMETRY, FUNCTION. |
| [3] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ASP-209. Tissue: Placenta. |
| [4] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 7-276 (ISOFORM 1), VARIANT ASP-209. Tissue: Testis. |
| [5] | "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: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-177, MASS SPECTROMETRY. Tissue: Epithelium. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF169802 mRNA. Translation: AAF04811.1. AY665398 mRNA. Translation: AAT75296.1. BC001346 mRNA. Translation: AAH01346.1. AL133582 mRNA. Translation: CAB63726.1. |
| IPI | IPI00008234. IPI00332396. |
| PIR | T43491. |
| RefSeq | NP_057313.2. |
| UniGene | Hs.414362 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1QX4 based on UniProtKB P20070. |
| SMR | Q6BCY4. Positions 9-276. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q6BCY4. 2 interactions. |
2-D gel databases | |
| REPRODUCTION-2DPAGE | IPI00332396. |
Proteomic databases | |
| PRIDE | Q6BCY4. |
Genome annotation databases | |
| Ensembl | ENST00000299498; ENSP00000299498; ENSG00000166394; Homo sapiens. [Genome view] |
| GeneID | 51700. |
| KEGG | hsa:51700. |
| UCSC | uc001mfm.1. human. |
Organism-specific databases | |
| CTD | 51700. |
| GeneCards | GC11M007642. |
| H-InvDB | HIX0009418. |
| HGNC | HGNC:24376. CYB5R2. |
| MIM | 608342. gene. |
| PharmGKB | PA142672060. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG05213. |
| HOGENOM | HBG591994. |
| HOVERGEN | Q6BCY4. |
| InParanoid | Q6BCY4. |
| OMA | DDDQGFV. |
| OrthoDB | EOG9KM1NT. |
| PhylomeDB | Q6BCY4. |
Enzyme and pathway databases | |
| BRENDA | 1.6.2.2. 247. |
Gene expression databases | |
| ArrayExpress | Q6BCY4. |
| Bgee | Q6BCY4. |
| CleanEx | HS_CYB5R2. |
| Genevestigator | Q6BCY4. |
Family and domain databases | |
| InterPro | IPR017927. Fd_Rdtase_FAD-bd. IPR001709. Flavoprot_Pyr_Nucl_cyt_Rdtase. IPR001834. NADH-Cyt_B5_reductase. IPR008333. OxRdtase_FAD-bd_dom. IPR001433. OxRdtase_FAD/NAD_bd. IPR017938. Riboflavin_synthase-like_b-brl. [Graphical view] |
| Pfam | PF00970. FAD_binding_6. 1 hit. PF00175. NAD_binding_1. 1 hit. [Graphical view] |
| PRINTS | PR00406. CYTB5RDTASE. PR00371. FPNCR. |
| PROSITE | PS51384. FAD_FR. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 55720. |
| SOURCE | Search... |
Entry information
| Entry name | NB5R2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6BCY4 Secondary accession number(s): Q9BVA3, Q9UF68, Q9UHJ0 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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 11 Human chromosome 11: 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 |

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