LOCUS       NM_006745               2227 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens methylsterol monooxygenase 1 (MSMO1), transcript
            variant 1, mRNA.
ACCESSION   NM_006745
VERSION     NM_006745.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2227)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2227)
  AUTHORS   Kalay Yildizhan,I., Gokpinar Ili,E., Onoufriadis,A., Kocyigit,P.,
            Kesidou,E., Simpson,M.A., McGrath,J.A., Kutlay,N.Y. and Kundakci,N.
  TITLE     New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL
            Deficiency Presenting with Psoriasiform Dermatitis
  JOURNAL   Cytogenet Genome Res 160 (9), 523-530 (2020)
   PUBMED   33161406
  REMARK    GeneRIF: New Homozygous Missense MSMO1 Mutation in Two Siblings
            with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis.
REFERENCE   3  (bases 1 to 2227)
  AUTHORS   He,M., Smith,L.D., Chang,R., Li,X. and Vockley,J.
  TITLE     The role of sterol-C4-methyl oxidase in epidermal biology
  JOURNAL   Biochim Biophys Acta 1841 (3), 331-335 (2014)
   PUBMED   24144731
  REMARK    GeneRIF: SC4MOL is situated within the psoriasis susceptibility
            locus PSORS9, and may be a genetic risk factor for common skin
            conditions. [review]
            Review article
REFERENCE   4  (bases 1 to 2227)
  AUTHORS   Chen,G., Bentley,A., Adeyemo,A., Shriner,D., Zhou,J., Doumatey,A.,
            Huang,H., Ramos,E., Erdos,M., Gerry,N., Herbert,A., Christman,M.
            and Rotimi,C.
  TITLE     Genome-wide association study identifies novel loci association
            with fasting insulin and insulin resistance in African Americans
  JOURNAL   Hum Mol Genet 21 (20), 4530-4536 (2012)
   PUBMED   22791750
  REMARK    GeneRIF: variants in/near SC4MOL, were associated with FI and IR in
            this cohort of African Amer
REFERENCE   5  (bases 1 to 2227)
  AUTHORS   He,M., Kratz,L.E., Michel,J.J., Vallejo,A.N., Ferris,L.,
            Kelley,R.I., Hoover,J.J., Jukic,D., Gibson,K.M., Wolfe,L.A.,
            Ramachandran,D., Zwick,M.E. and Vockley,J.
  TITLE     Mutations in the human SC4MOL gene encoding a methyl sterol oxidase
            cause psoriasiform dermatitis, microcephaly, and developmental
            delay
  JOURNAL   J Clin Invest 121 (3), 976-984 (2011)
   PUBMED   21285510
  REMARK    GeneRIF: human SC4MOL encodes a methyl sterol oxidase that may have
            a role in psoriasiform dermatitis, microcephaly, and developmental
            delay
REFERENCE   6  (bases 1 to 2227)
  AUTHORS   Lu,Y., Dolle,M.E., Imholz,S., van 't Slot,R., 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 49 (12), 2582-2589 (2008)
   PUBMED   18660489
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2227)
  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   8  (bases 1 to 2227)
  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, BC010653.1 and
            BU676028.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_006745.4.
            
            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, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.632771.1,
                                           SRR1803615.219279.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261507.11/ ENSP00000261507.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-910               BX441001.2         4-913
            911-2029            BC010653.1         808-1926
            2030-2227           BU676028.1         12-209              c
FEATURES             Location/Qualifiers
     source          1..2227
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.3"
     gene            1..2227
                     /gene="MSMO1"
                     /gene_synonym="DESP4; ERG25; MCCPD; SC4MOL"
                     /note="methylsterol monooxygenase 1"
                     /db_xref="GeneID:6307"
                     /db_xref="HGNC:HGNC:10545"
                     /db_xref="MIM:607545"
     exon            1..96
                     /gene="MSMO1"
                     /gene_synonym="DESP4; ERG25; MCCPD; SC4MOL"
                     /inference="alignment:Splign:2.1.0"
     exon            97..382
                     /gene="MSMO1"
                     /gene_synonym="DESP4; ERG25; MCCPD; SC4MOL"
                     /inference="alignment:Splign:2.1.0"
     CDS             128..1009
                     /gene="MSMO1"
                     /gene_synonym="DESP4; ERG25; MCCPD; SC4MOL"
                     /EC_number="1.14.18.9"
                     /note="isoform 1 is encoded by transcript variant 1; C-4
                     methylsterol oxidase; sterol-C4-methyl oxidase"
                     /codon_start=1
                     /product="methylsterol monooxygenase 1 isoform 1"
                     /protein_id="NP_006736.1"
                     /db_xref="CCDS:CCDS3809.1"
                     /db_xref="GeneID:6307"
                     /db_xref="HGNC:HGNC:10545"
                     /db_xref="MIM:607545"
                     /translation="MATNESVSIFSSASLAVEYVDSLLPENPLQEPFKNAWNYMLNNY
                     TKFQIATWGSLIVHEALYFLFCLPGFLFQFIPYMKKYKIQKDKPETWENQWKCFKVLL
                     FNHFCIQLPLICGTYYFTEYFNIPYDWERMPRWYFLLARCFGCAVIEDTWHYFLHRLL
                     HHKRIYKYIHKVHHEFQAPFGMEAEYAHPLETLILGTGFFIGIVLLCDHVILLWAWVT
                     IRLLETIDVHSGYDIPLNPLNLIPFYAGSRHHDFHHMNFIGNYASTFTWWDRIFGTDS
                     QYNAYNEKRKKFEKKTE"
     exon            383..531
                     /gene="MSMO1"
                     /gene_synonym="DESP4; ERG25; MCCPD; SC4MOL"
                     /inference="alignment:Splign:2.1.0"
     exon            532..658
                     /gene="MSMO1"
                     /gene_synonym="DESP4; ERG25; MCCPD; SC4MOL"
                     /inference="alignment:Splign:2.1.0"
     exon            659..813
                     /gene="MSMO1"
                     /gene_synonym="DESP4; ERG25; MCCPD; SC4MOL"
                     /inference="alignment:Splign:2.1.0"
     exon            814..2227
                     /gene="MSMO1"
                     /gene_synonym="DESP4; ERG25; MCCPD; SC4MOL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2112..2117
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSMO1"
                     /gene_synonym="DESP4; ERG25; MCCPD; SC4MOL"
                     /note="hexamer: AATAAA"
     polyA_site      2136
                     /gene="MSMO1"
                     /gene_synonym="DESP4; ERG25; MCCPD; SC4MOL"
                     /note="major polyA site"
     regulatory      2201..2206
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSMO1"
                     /gene_synonym="DESP4; ERG25; MCCPD; SC4MOL"
                     /note="hexamer: ATTAAA"
     polyA_site      2227
                     /gene="MSMO1"
                     /gene_synonym="DESP4; ERG25; MCCPD; SC4MOL"
                     /note="major polyA site"
ORIGIN      
        1 ggctccaccc ccaagccagg cgaggcaggt tccgaggttg gaacacctgg cgagtcctcg
       61 gtgtcggtgg ccggcagtca tctcgcggcc gttcagaatt ataaggctgt ctgcagagat
      121 ttgaaaaatg gcaacaaatg aaagtgtcag catctttagt tcagcatcct tggctgtgga
      181 atatgtagat tcacttttac ctgagaatcc tctgcaagaa ccatttaaaa atgcttggaa
      241 ctatatgttg aataattata caaagttcca gattgcaaca tggggatccc ttatagttca
      301 tgaagccctt tatttcttat tctgtttacc tggattttta tttcaattta taccttatat
      361 gaaaaaatac aaaattcaaa aggataagcc agagacatgg gaaaaccaat ggaagtgttt
      421 caaagttctt ctctttaatc acttctgtat ccagctgcct ttgatttgtg gaacctatta
      481 ttttacagag tatttcaata ttccttatga ttgggaaaga atgccaagat ggtattttct
      541 tttggcaaga tgctttggtt gtgcagtcat tgaagatact tggcactatt ttctgcatag
      601 actcttacac cacaaaagaa tatacaagta tattcataaa gttcatcatg agtttcaggc
      661 tccatttgga atggaagctg aatatgcaca tcctttggag actctaattc ttggaactgg
      721 atttttcatt ggaatcgtgc ttttgtgtga tcatgtaatt cttctttggg catgggtgac
      781 cattcgttta ttagaaacta ttgatgtcca tagtggttat gatattcctc tcaacccttt
      841 aaatctgatc cctttctatg ctggttctcg gcatcatgat ttccaccaca tgaacttcat
      901 tggaaactat gcttcaacat ttacatggtg ggatcgaatt tttggaacag actctcagta
      961 taatgcctat aatgaaaaga ggaagaagtt tgagaaaaag actgaataaa tatctcacgt
     1021 aaaccttcct gaaagataaa cgttttcctg aattcagaaa ctagtagcta acattgcttc
     1081 tggagagcag aaataagcat gtcttctggc tactaagtga taaaaagaac attaacaacc
     1141 tttaattacc ttcctagtgg gaactttttc tactttacct acaagttcta tatatgtaga
     1201 aatgaataaa tatatattta agtacagttt tcatgaggaa gttttaaaag accatgttcc
     1261 taagcttcca agaaggtttt ggatactaga agtattaatc tatggctttt ctcccagtaa
     1321 aaccataggc ctgaagttca cattgggtct ttaaatcttt tagatatata ctggtcattt
     1381 cagaaaattc ttcatagtgg tattggcctt atatttaact ttttttttat tttttttttg
     1441 agacaaagcc acactctgtc tccttggctg gagtgtggtg gcacagtctc agctcactgc
     1501 aacctctgcc tcccagttca agcaattctt ctgcctcagc ctcccaagta gctgggatta
     1561 caggcacccg ccaccacgcc cagctaattt ttgtattttt gtagagatgg ggtttcacga
     1621 tgttggccag gctggtctca aacttctgac ctcaagtgat ctgcccacct tggcctccca
     1681 aagtgctggg attacaggtg taagccactg cgcccggcct ttttaacttt aaacatgttt
     1741 tagaattcac ctaaagatca aaatatcatg gattgaacct catcaattga tagcagtgag
     1801 tgactgaagc ttccaaatca agaaaagccg gcaccaagaa cttccattct aatctagagc
     1861 tgaccagttt gagctgattc tctctttgaa gagtccttct tgattgcagt gcagtactgg
     1921 catttctgaa tggatgtaag tggagtattt tagtctaaag gcttttcaaa ttacttgaat
     1981 ttttttaaaa attgaggagc tttatttcta tttacccttc catttttgta tatcaaattt
     2041 ccattgtcat taaaaactgt atcttgaaac tttgtgaact gacttgctgt atttgcactt
     2101 tgagctcttg aaataaatgt gatttttgtg tgattatctg gtttccagtt ttaaacatta
     2161 actgtcacct tttattctta aacttgaaag tacagaaatc attaaattat taagttgtac
     2221 aataaaa
//
