ID ERG25_HUMAN Reviewed; 293 AA. AC Q15800; Q32Q24; DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot. DT 01-NOV-1997, sequence version 1. DT 16-DEC-2008, entry version 72. DE RecName: Full=C-4 methylsterol oxidase; DE EC=1.14.13.72; DE AltName: Full=Methylsterol monooxygenase; GN Name=SC4MOL; Synonyms=DESP4, ERG25; 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]. RC TISSUE=Intestine; RX MEDLINE=96279274; PubMed=8663358; DOI=10.1074/jbc.271.28.16927; RA Li L., Kaplan J.; RT "Characterization of yeast methyl sterol oxidase (ERG25) and RT identification of a human homologue."; RL J. Biol. Chem. 271:16927-16933(1996). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA]. RC TISSUE=Retina; RA Herrmann K.; RL Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases. RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Eye; 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). CC -!- CATALYTIC ACTIVITY: 4,4-dimethyl-5-alpha-cholest-7-en-3-beta-ol + CC NAD(P)H + O(2) = 4-beta-hydroxymethyl-4-alpha-methyl-5-alpha- CC cholest-7-en-3-beta-ol + NAD(P)(+) + H(2)O. CC -!- CATALYTIC ACTIVITY: 4-beta-hydroxymethyl-4-alpha-methyl-5-alpha- CC cholest-7-en-3-beta-ol + NAD(P)H + O(2) = 3-beta-hydroxy-4-beta- CC methyl-5-alpha-cholest-7-ene-4-alpha-carbaldehyde + NAD(P)(+) + 2 CC H(2)O. CC -!- CATALYTIC ACTIVITY: 3-beta-hydroxy-4-beta-methyl-5-alpha-cholest- CC 7-ene-4-alpha-carbaldehyde + NAD(P)H + O(2) = 3-beta-hydroxy-4- CC beta-methyl-5-alpha-cholest-7-ene-4-alpha-carboxylate + NAD(P)(+) CC + H(2)O. CC -!- COFACTOR: Iron (Probable). CC -!- PATHWAY: Steroid biosynthesis; zymosterol biosynthesis; zymosterol CC from lanosterol: step 3/6. CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass CC membrane protein (Probable). CC -!- DOMAIN: The histidine box domains may contain the active site CC and/or be involved in metal ion binding. CC -!- SIMILARITY: Belongs to the sterol desaturase family. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; U60205; AAC50587.1; -; mRNA. DR EMBL; U93162; AAB81566.1; -; mRNA. DR EMBL; BC010653; AAH10653.1; -; mRNA. DR EMBL; BC107879; AAI07880.1; -; mRNA. DR RefSeq; NP_001017369.1; -. DR RefSeq; NP_006736.1; -. DR UniGene; Hs.105269; -. DR IntAct; Q15800; 1. DR PRIDE; Q15800; -. DR Ensembl; ENSG00000052802; Homo sapiens. DR GeneID; 6307; -. DR KEGG; hsa:6307; -. DR GeneCards; GC04P166468; -. DR H-InvDB; HIX0004617; -. DR HGNC; HGNC:10545; SC4MOL. DR MIM; 607545; gene. DR PharmGKB; PA34955; -. DR HOGENOM; Q15800; -. DR HOVERGEN; Q15800; -. DR Reactome; REACT_602; Lipid and lipoprotein metabolism. DR DrugBank; DB00157; NADH. DR LinkHub; Q15800; -. DR NextBio; 24483; -. DR ArrayExpress; Q15800; -. DR CleanEx; HS_SC4MOL; -. DR GermOnline; ENSG00000052802; Homo sapiens. DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. DR GO; GO:0016021; C:integral to membrane; TAS:ProtInc. DR GO; GO:0005886; C:plasma membrane; TAS:ProtInc. DR GO; GO:0000254; F:C-4 methylsterol oxidase activity; TAS:ProtInc. DR GO; GO:0005506; F:iron ion binding; IEA:UniProtKB-KW. DR GO; GO:0006631; P:fatty acid metabolic process; TAS:ProtInc. DR GO; GO:0055114; P:oxidation reduction; IEA:UniProtKB-KW. DR GO; GO:0016126; P:sterol biosynthetic process; IEA:UniProtKB-KW. DR InterPro; IPR006088; Sterol_desatur. DR Pfam; PF01598; Sterol_desat; 1. PE 2: Evidence at transcript level; KW Endoplasmic reticulum; Iron; Lipid synthesis; Membrane; NAD; KW Oxidoreductase; Polymorphism; Steroid biosynthesis; KW Sterol biosynthesis; Transmembrane. FT CHAIN 1 293 C-4 methylsterol oxidase. FT /FTId=PRO_0000117033. FT TRANSMEM 55 75 Potential. FT TRANSMEM 100 120 Potential. FT TRANSMEM 199 219 Potential. FT MOTIF 157 161 Histidine box-1. FT MOTIF 170 174 Histidine box-2. FT MOTIF 249 255 Histidine box-3. FT VARIANT 124 124 N -> S (in dbSNP:rs34499452). FT /FTId=VAR_048898. SQ SEQUENCE 293 AA; 35216 MW; D88E0DDBE85DE0BF CRC64; MATNESVSIF SSASLAVEYV DSLLPENPLQ EPFKNAWNYM LNNYTKFQIA TWGSLIVHEA LYFLFCLPGF LFQFIPYMKK YKIQKDKPET WENQWKCFKV LLFNHFCIQL PLICGTYYFT EYFNIPYDWE RMPRWYFLLA RCFGCAVIED TWHYFLHRLL HHKRIYKYIH KVHHEFQAPF GMEAEYAHPL ETLILGTGFF IGIVLLCDHV ILLWAWVTIR LLETIDVHSG YDIPLNPLNL IPFYAGSRHH DFHHMNFIGN YASTFTWWDR IFGTDSQYNA YNEKRKKFEK KTE //