LOCUS       NP_001017369             162 aa            linear   PRI 22-OCT-2008
DEFINITION  sterol-C4-methyl oxidase-like isoform 2 [Homo sapiens].
ACCESSION   NP_001017369
VERSION     NP_001017369.1  GI:62865628
DBSOURCE    REFSEQ: accession NM_001017369.1
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 162)
  AUTHORS   Lu,Y., Dolle,M.E., Imholz,S., Slot,R.V., Verschuren,W.M.,
            Wijmenga,C., Feskens,E.J. and Boer,J.M.
  TITLE     Multiple genetic variants along candidate pathways influence plasma
            high-density lipoprotein cholesterol concentrations
  JOURNAL   J. Lipid Res. (2008) In press
   PUBMED   18660489
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Available-Online prior to print
REFERENCE   2  (residues 1 to 162)
  AUTHORS   Lim,J., Hao,T., Shaw,C., Patel,A.J., Szabo,G., Rual,J.F.,
            Fisk,C.J., Li,N., Smolyar,A., Hill,D.E., Barabasi,A.L., Vidal,M.
            and Zoghbi,H.Y.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   3  (residues 1 to 162)
  AUTHORS   Li,L. and Kaplan,J.
  TITLE     Characterization of yeast methyl sterol oxidase (ERG25) and
            identification of a human homologue
  JOURNAL   J. Biol. Chem. 271 (28), 16927-16933 (1996)
   PUBMED   8663358
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX441001.2, BU940384.1,
            BC010653.1 and AV704962.1.
            
            Summary: Sterol-C4-mehtyl oxidase-like protein was isolated based
            on its similarity to the yeast ERG25 protein. It contains a set of
            putative metal binding motifs with similarity to that seen in a
            family of membrane desaturases-hydroxylases. The protein is
            localized to the endoplasmic reticulum membrane and is believed to
            function in cholesterol biosynthesis. Alternatively spliced
            transcript variants encoding distinct isoforms have been found for
            this gene. [provided by RefSeq].
            
            Transcript Variant: This variant (2) lacks an exon in the 5'
            region, resulting in translation initiation from a downstream AUG
            codon, as compared to variant 1. The encoded isoform 2 has a
            shorter N-terminus, as compared to isoform 1.
FEATURES             Location/Qualifiers
     source          1..162
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32-q34"
     Protein         1..162
                     /product="sterol-C4-methyl oxidase-like isoform 2"
                     /EC_number="1.14.13.72"
                     /note="C-4 methyl sterol"
                     /calculated_mol_wt=19339
     CDS             1..162
                     /gene="SC4MOL"
                     /gene_synonym="DESP4"
                     /gene_synonym="ERG25"
                     /gene_synonym="MGC104344"
                     /coded_by="NM_001017369.1:238..726"
                     /note="isoform 2 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS43280.1"
                     /db_xref="GeneID:6307"
                     /db_xref="HGNC:10545"
                     /db_xref="MIM:607545"
ORIGIN      
        1 mprwyfllar cfgcaviedt whyflhrllh hkriykyihk vhhefqapfg meaeyahple
       61 tlilgtgffi givllcdhvi llwawvtirl letidvhsgy diplnplnli pfyagsrhhd
      121 fhhmnfigny astftwwdri fgtdsqynay nekrkkfekk te
//