ID NB5R2_HUMAN Reviewed; 276 AA. AC Q6BCY4; Q9BVA3; Q9UF68; Q9UHJ0; DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot. DT 13-SEP-2004, sequence version 1. DT 21-AUG-2007, entry version 19. DE NADH-cytochrome b5 reductase 2 (EC 1.6.2.2) (b5R.2). GN Name=CYB5R2; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, AND RP VARIANT ASP-209. RX MEDLINE=20079552; PubMed=10611283; DOI=10.1073/pnas.96.26.14742; RA Zhu H., Qiu H., Yoon H.-W., Huang S., Bunn H.F.; RT "Identification of a cytochrome b-type NAD(P)H oxidoreductase RT ubiquitously expressed in human cells."; RL Proc. Natl. Acad. Sci. U.S.A. 96:14742-14747(1999). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), IDENTIFICATION BY MASS RP SPECTROMETRY, AND FUNCTION. RX PubMed=15858218; DOI=10.1095/biolreprod.104.037960; RA Baker M.A., Krutskikh A., Curry B.J., Hetherington L., Aitken R.J.; RT "Identification of cytochrome-b5 reductase as the enzyme responsible RT for NADH-dependent lucigenin chemiluminescence in human spermatozoa."; RL Biol. Reprod. 73:334-342(2005). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT RP ASP-209. RC TISSUE=Placenta; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 7-276 (ISOFORM 1), AND RP VARIANT ASP-209. RC TISSUE=Testis; RG The German cDNA consortium; RL Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases. RN [5] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-177, AND MASS RP SPECTROMETRY. RC TISSUE=Epithelium; RX PubMed=17081983; DOI=10.1016/j.cell.2006.09.026; RA Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., RA Mann M.; RT "Global, in vivo, and site-specific phosphorylation dynamics in RT signaling networks."; RL Cell 127:635-648(2006). CC -!- FUNCTION: NADH-cytochrome b5 reductases are involved in CC desaturation and elongation of fatty acids, cholesterol CC biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin CC reduction (By similarity). Responsible for NADH-dependent CC lucigenin chemiluminescence in spermatozoa by reducing both CC lucigenin and 2-[4-iodophenyl]-3-[4-nitrophenyl]-5-[2,4- CC disulfophenyl]-2H tetrazolium monosodium salt (WST-1). CC -!- CATALYTIC ACTIVITY: NADH + 2 ferricytochrome b5 = NAD(+) + H(+) + CC 2 ferrocytochrome b5. CC -!- COFACTOR: FAD (By similarity). CC -!- PATHWAY: Microsomal electron transport system. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q6BCY4-1; Sequence=Displayed; CC Name=2; CC IsoId=Q6BCY4-2; Sequence=VSP_025559; CC Note=No experimental confirmation available; CC -!- TISSUE SPECIFICITY: Restricted expression. CC -!- SIMILARITY: Belongs to the flavoprotein pyridine nucleotide CC cytochrome reductase family. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AF169802; AAF04811.1; -; mRNA. DR EMBL; AY665398; AAT75296.1; -; mRNA. DR EMBL; BC001346; AAH01346.1; -; mRNA. DR EMBL; AL133582; CAB63726.1; -; mRNA. DR PIR; T43491; T43491. DR UniGene; Hs.414362; -. DR Ensembl; ENSG00000166394; Homo sapiens. DR HGNC; HGNC:24376; CYB5R2. DR MIM; 608342; gene. DR PharmGKB; PA142672060; -. DR ArrayExpress; Q6BCY4; -. DR InterPro; IPR001834; Cyt_B5_reductase. DR InterPro; IPR012260; Cytoc-b5_red. DR InterPro; IPR001709; FPN_cyt_redctse. DR InterPro; IPR008333; Oxred_FAD_bd. DR InterPro; IPR001433; Oxred_FAD_NAD_bd. DR Pfam; PF00970; FAD_binding_6; 1. DR Pfam; PF00175; NAD_binding_1; 1. DR PIRSF; PIRSF000206; Cytoc-b5_red; 1. DR PRINTS; PR00406; CYTB5RDTASE. DR PRINTS; PR00371; FPNCR. PE 1: Evidence at protein level; KW Alternative splicing; FAD; Flavoprotein; Lipid synthesis; NAD; KW Oxidoreductase; Phosphorylation; Polymorphism; Steroid biosynthesis; KW Sterol biosynthesis. FT CHAIN 1 276 NADH-cytochrome b5 reductase 2. FT /FTId=PRO_0000287548. FT NP_BIND 107 137 FAD (By similarity). FT NP_BIND 146 181 FAD (By similarity). FT MOD_RES 177 177 Phosphothreonine. FT VAR_SEQ 221 276 WKYSSGFVTADMIKEHLPPPAKSTLILVCGPPPLIQTAAHP FT NLEKLGYTQDMIFTY -> PWSAEGATLLSNSAQFH (in FT isoform 2). FT /FTId=VSP_025559. FT VARIANT 15 15 E -> A (in dbSNP:rs11041525). FT /FTId=VAR_032321. FT VARIANT 209 209 N -> D (in dbSNP:rs12801394). FT /FTId=VAR_032322. FT CONFLICT 130 130 G -> R (in Ref. 1; AAF04811). FT CONFLICT 253 253 P -> T (in Ref. 1; AAF04811). SQ SEQUENCE 276 AA; 31458 MW; A475039D1E56ABDA CRC64; MNSRRREPIT LQDPEAKYPL PLIEKEKISH NTRRFRFGLP SPDHVLGLPV GNYVQLLAKI DNELVVRAYT PVSSDDDRGF VDLIIKIYFK NVHPQYPEGG KMTQYLENMK IGETIFFRGP RGRLFYHGPG NLGIRPDQTS EPKKTLADHL GMIAGGTGIT PMLQLIRHIT KDPSDRTRMS LIFANQTEED ILVRKELEEI ARTHPDQFNL WYTLDRPPIG WKYSSGFVTA DMIKEHLPPP AKSTLILVCG PPPLIQTAAH PNLEKLGYTQ DMIFTY //