LOCUS       NP_000932                680 aa            linear   PRI 04-NOV-2008
DEFINITION  cytochrome P450 reductase [Homo sapiens].
ACCESSION   NP_000932
VERSION     NP_000932.3  GI:127139033
DBSOURCE    REFSEQ: accession NM_000941.2
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 680)
  AUTHORS   Hershkovitz,E., Parvari,R., Wudy,S.A., Hartmann,M.F., Gomes,L.G.,
            Loewental,N. and Miller,W.L.
  TITLE     Homozygous mutation G539R in the gene for P450 oxidoreductase in a
            family previously diagnosed as having 17,20-lyase deficiency
  JOURNAL   J. Clin. Endocrinol. Metab. 93 (9), 3584-3588 (2008)
   PUBMED   18559916
  REMARK    GeneRIF: POR deficiency can masquerade clinically as isolated
            17,20-lyase deficiency.
REFERENCE   2  (residues 1 to 680)
  AUTHORS   Agrawal,V., Huang,N. and Miller,W.L.
  TITLE     Pharmacogenetics of P450 oxidoreductase: effect of sequence
            variants on activities of CYP1A2 and CYP2C19
  JOURNAL   Pharmacogenet. Genomics 18 (7), 569-576 (2008)
   PUBMED   18551037
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   3  (residues 1 to 680)
  AUTHORS   Gomes,L.G., Huang,N., Agrawal,V., Mendonca,B.B., Bachega,T.A. and
            Miller,W.L.
  TITLE     The common P450 oxidoreductase variant A503V is not a modifier gene
            for 21-hydroxylase deficiency
  JOURNAL   J. Clin. Endocrinol. Metab. 93 (7), 2913-2916 (2008)
   PUBMED   18397975
  REMARK    GeneRIF: The common P450 oxidoreductase variant A503V is not a
            modifier gene for 21-hydroxylase deficiency.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (residues 1 to 680)
  AUTHORS   Tomkova,M., Marohnic,C.C., Baxova,A. and Martasek,P.
  TITLE     [Antley-Bixler syndrome or POR deficiency?]
  JOURNAL   Cas. Lek. Cesk. 147 (5), 261-265 (2008)
   PUBMED   18630181
  REMARK    GeneRIF: patients with Antley-Bixler-like skeletal anomalies, but
            with mutations in the POR gene and disordered steroidogenesis,
            represent a new disorder called POR deficiency.
            Review article
REFERENCE   5  (residues 1 to 680)
  AUTHORS   Scott,R.R. and Miller,W.L.
  TITLE     Genetic and clinical features of p450 oxidoreductase deficiency
  JOURNAL   Horm. Res. 69 (5), 266-275 (2008)
   PUBMED   18259105
  REMARK    GeneRIF: The prognosis for patients with POR deficiency appears to
            depend on the severity of the bony malformations and their timely
            treatment.
            Review article
REFERENCE   6  (residues 1 to 680)
  AUTHORS   Wilks,A., Black,S.M., Miller,W.L. and Ortiz de Montellano,P.R.
  TITLE     Expression and characterization of truncated human heme oxygenase
            (hHO-1) and a fusion protein of hHO-1 with human cytochrome P450
            reductase
  JOURNAL   Biochemistry 34 (13), 4421-4427 (1995)
   PUBMED   7703255
REFERENCE   7  (residues 1 to 680)
  AUTHORS   Bhamre,S., Anandatheerathavarada,H.K., Shankar,S.K., Boyd,M.R. and
            Ravindranath,V.
  TITLE     Purification of multiple forms of cytochrome P450 from a human
            brain and reconstitution of catalytic activities
  JOURNAL   Arch. Biochem. Biophys. 301 (2), 251-255 (1993)
   PUBMED   8460938
REFERENCE   8  (residues 1 to 680)
  AUTHORS   Shephard,E.A., Palmer,C.N., Segall,H.J. and Phillips,I.R.
  TITLE     Quantification of cytochrome P450 reductase gene expression in
            human tissues
  JOURNAL   Arch. Biochem. Biophys. 294 (1), 168-172 (1992)
   PUBMED   1550342
REFERENCE   9  (residues 1 to 680)
  AUTHORS   Haniu,M., McManus,M.E., Birkett,D.J., Lee,T.D. and Shively,J.E.
  TITLE     Structural and functional analysis of NADPH-cytochrome P-450
            reductase from human liver: complete sequence of human enzyme and
            NADPH-binding sites
  JOURNAL   Biochemistry 28 (21), 8639-8645 (1989)
   PUBMED   2513880
REFERENCE   10 (residues 1 to 680)
  AUTHORS   Shephard,E.A., Phillips,I.R., Santisteban,I., West,L.F.,
            Palmer,C.N., Ashworth,A. and Povey,S.
  TITLE     Isolation of a human cytochrome P-450 reductase cDNA clone and
            localization of the corresponding gene to chromosome 7q11.2
  JOURNAL   Ann. Hum. Genet. 53 (PT 4), 291-301 (1989)
   PUBMED   2516426
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA701694.1, BP244929.1,
            BC034277.1, AF258341.1, BG104767.1 and AK129978.1.
            On Mar 9, 2007 this sequence version replaced gi:94721356.
            
            Summary: This gene encodes an endoplasmic reticulum membrane
            oxidoreductase with an FAD-binding domain and a flavodoxin-like
            domain. The protein binds two cofactors, FAD and FMN, which allow
            it to donate electrons directly from NADPH to all microsomal P450
            enzymes. Mutations in this gene have been associated with various
            diseases, including apparent combined P450C17 and P450C21
            deficiency, amenorrhea and disordered steroidogenesis, congenital
            adrenal hyperplasia and Antley-Bixler syndrome. [provided by
            RefSeq].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the
            Entrez Gene record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..680
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.2"
     Protein         1..680
                     /product="cytochrome P450 reductase"
                     /EC_number="1.6.2.4"
                     /note="NADPH-dependent cytochrome P450 reductase"
                     /calculated_mol_wt=76917
     CDS             1..680
                     /gene="POR"
                     /gene_synonym="CPR"
                     /gene_synonym="CYPOR"
                     /gene_synonym="P450R"
                     /gene_synonym="FLJ26468"
                     /gene_synonym="DKFZp686G04235"
                     /coded_by="NM_000941.2:83..2125"
                     /db_xref="CCDS:CCDS5579.1"
                     /db_xref="GeneID:5447"
                     /db_xref="HGNC:9208"
                     /db_xref="HPRD:00485"
                     /db_xref="MIM:124015"
ORIGIN      
        1 minmgdshvd tsstvseava eevslfsmtd milfslivgl ltywflfrkk keevpeftki
       61 qtltssvres sfvekmkktg rniivfygsq tgtaeefanr lskdahrygm rgmsadpeey
      121 dladlsslpe idnalvvfcm atygegdptd naqdfydwlq etdvdlsgvk favfglgnkt
      181 yehfnamgky vdkrleqlga qrifelglgd ddgnleedfi twreqfwpav cehfgveatg
      241 eessirqyel vvhtdidaak vymgemgrlk syenqkppfd aknpflaavt tnrklnqgte
      301 rhlmhleldi sdskiryesg dhvavypand salvnqlgki lgadldvvms lnnldeesnk
      361 khpfpcptsy rtaltyyldi tnpprtnvly elaqyaseps eqellrkmas ssgegkelyl
      421 swvvearrhi lailqdcpsl rppidhlcel lprlqaryys iassskvhpn svhicavvve
      481 yetkagrink gvatnwlrak epagenggra lvpmfvrksq frlpfkattp vimvgpgtgv
      541 apfigfiqer awlrqqgkev getllyygcr rsdedylyre elaqfhrdga ltqlnvafsr
      601 eqshkvyvqh llkqdrehlw klieggahiy vcgdarnmar dvqntfydiv aelgamehaq
      661 avdyikklmt kgrysldvws
//