LOCUS       NM_016467               2150 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens ORMDL sphingolipid biosynthesis regulator 1 (ORMDL1),
            transcript variant 1, mRNA.
ACCESSION   NM_016467
VERSION     NM_016467.5
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 2150)
  AUTHORS   Zhu,T., Chen,Y., Min,S., Li,F. and Tian,Y.
  TITLE     Expression Patterns and Prognostic Values of ORMDL1 in Different
            Cancers
  JOURNAL   Biomed Res Int 2020, 5178397 (2020)
   PUBMED   33145351
  REMARK    GeneRIF: Expression Patterns and Prognostic Values of ORMDL1 in
            Different Cancers.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2150)
  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   3  (bases 1 to 2150)
  AUTHORS   Cai,L., Oyeniran,C., Biswas,D.D., Allegood,J., Milstien,S.,
            Kordula,T., Maceyka,M. and Spiegel,S.
  TITLE     ORMDL proteins regulate ceramide levels during sterile inflammation
  JOURNAL   J Lipid Res 57 (8), 1412-1422 (2016)
   PUBMED   27313060
  REMARK    GeneRIF: ORMDL1 downregulation modestly increased levels of
            sphingosine, S1P, and ceramide in HepG2 cells.
REFERENCE   4  (bases 1 to 2150)
  AUTHORS   Siow,D., Sunkara,M., Dunn,T.M., Morris,A.J. and Wattenberg,B.
  TITLE     ORMDL/serine palmitoyltransferase stoichiometry determines effects
            of ORMDL3 expression on sphingolipid biosynthesis
  JOURNAL   J Lipid Res 56 (4), 898-908 (2015)
   PUBMED   25691431
REFERENCE   5  (bases 1 to 2150)
  AUTHORS   Gupta,S.D., Gable,K., Alexaki,A., Chandris,P., Proia,R.L.,
            Dunn,T.M. and Harmon,J.M.
  TITLE     Expression of the ORMDLS, modulators of serine
            palmitoyltransferase, is regulated by sphingolipids in mammalian
            cells
  JOURNAL   J Biol Chem 290 (1), 90-98 (2015)
   PUBMED   25395622
  REMARK    GeneRIF: Expression of the ORMDLS, modulators of serine
            palmitoyltransferase, is regulated by sphingolipids in mammalian
            cells.
REFERENCE   6  (bases 1 to 2150)
  AUTHORS   Siow,D.L. and Wattenberg,B.W.
  TITLE     Mammalian ORMDL proteins mediate the feedback response in ceramide
            biosynthesis
  JOURNAL   J Biol Chem 287 (48), 40198-40204 (2012)
   PUBMED   23066021
  REMARK    GeneRIF: ORMDL1, ORMDL2 and ORMDL3 mediate the feedback response in
            ceramide biosynthesis.
REFERENCE   7  (bases 1 to 2150)
  AUTHORS   Kang,T.W., Kim,H.J., Ju,H., Kim,J.H., Jeon,Y.J., Lee,H.C.,
            Kim,K.K., Kim,J.W., Lee,S., Kim,J.Y., Kim,S.Y. and Kim,Y.S.
  TITLE     Genome-wide association of serum bilirubin levels in Korean
            population
  JOURNAL   Hum Mol Genet 19 (18), 3672-3678 (2010)
   PUBMED   20639394
REFERENCE   8  (bases 1 to 2150)
  AUTHORS   Breslow,D.K., Collins,S.R., Bodenmiller,B., Aebersold,R.,
            Simons,K., Shevchenko,A., Ejsing,C.S. and Weissman,J.S.
  TITLE     Orm family proteins mediate sphingolipid homeostasis
  JOURNAL   Nature 463 (7284), 1048-1053 (2010)
   PUBMED   20182505
REFERENCE   9  (bases 1 to 2150)
  AUTHORS   Araki,W., Takahashi-Sasaki,N., Chui,D.H., Saito,S., Takeda,K.,
            Shirotani,K., Takahashi,K., Murayama,K.S., Kametani,F.,
            Shiraishi,H., Komano,H. and Tabira,T.
  TITLE     A family of membrane proteins associated with presenilin expression
            and gamma-secretase function
  JOURNAL   FASEB J 22 (3), 819-827 (2008)
   PUBMED   17928364
  REMARK    GeneRIF: Adoplin-1/ORMDL-1 displays reduced expression in
            association with presenilin mutations; Adoplin-1 & two highly
            homologous genes (adoplin-2, -3) are a gene family that encodes
            transmembrane proteins that may play roles in gamma-secretase
            complex maturation
REFERENCE   10 (bases 1 to 2150)
  AUTHORS   Hjelmqvist,L., Tuson,M., Marfany,G., Herrero,E., Balcells,S. and
            Gonzalez-Duarte,R.
  TITLE     ORMDL proteins are a conserved new family of endoplasmic reticulum
            membrane proteins
  JOURNAL   Genome Biol 3 (6), RESEARCH0027 (2002)
   PUBMED   12093374
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB122266.1, AF395704.1, AC013468.12, AI674061.1 and AA603217.1.
            
            On Nov 22, 2018 this sequence version replaced NM_016467.4.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.28817.1,
                                           SRR1803614.159363.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392349.9/ ENSP00000376160.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                DB122266.1         33-45
            14-731              AF395704.1         1-718
            732-2052            AC013468.12        62777-64097         c
            2053-2137           AI674061.1         17-101              c
            2138-2141           AA603217.1         49-52               c
            2142-2150           AI674061.1         4-12                c
FEATURES             Location/Qualifiers
     source          1..2150
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     gene            1..2150
                     /gene="ORMDL1"
                     /note="ORMDL sphingolipid biosynthesis regulator 1"
                     /db_xref="GeneID:94101"
                     /db_xref="HGNC:HGNC:16036"
                     /db_xref="MIM:610073"
     exon            1..71
                     /gene="ORMDL1"
                     /inference="alignment:Splign:2.1.0"
     exon            72..181
                     /gene="ORMDL1"
                     /inference="alignment:Splign:2.1.0"
     exon            182..362
                     /gene="ORMDL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             189..650
                     /gene="ORMDL1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ORM1-like protein 1; adoplin-1"
                     /codon_start=1
                     /product="ORM1-like protein 1 isoform 1"
                     /protein_id="NP_057551.1"
                     /db_xref="CCDS:CCDS2301.1"
                     /db_xref="GeneID:94101"
                     /db_xref="HGNC:HGNC:16036"
                     /db_xref="MIM:610073"
                     /translation="MNVGVAHSEVNPNTRVMNSRGMWLTYALGVGLLHIVLLSIPFFS
                     VPVAWTLTNIIHNLGMYVFLHAVKGTPFETPDQGKARLLTHWEQLDYGVQFTSSRKFF
                     TISPIILYFLASFYTKYDPTHFILNTASLLSVLIPKMPQLHGVRIFGINKY"
     exon            363..514
                     /gene="ORMDL1"
                     /inference="alignment:Splign:2.1.0"
     exon            515..2150
                     /gene="ORMDL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1082..1087
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ORMDL1"
                     /note="hexamer: ATTAAA"
     polyA_site      1106
                     /gene="ORMDL1"
                     /note="major polyA site"
     regulatory      2067..2072
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ORMDL1"
                     /note="hexamer: AATAAA"
     polyA_site      2094
                     /gene="ORMDL1"
     regulatory      2126..2131
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ORMDL1"
                     /note="hexamer: ATTAAA"
     polyA_site      2150
                     /gene="ORMDL1"
ORIGIN      
        1 gggcgtgtat ccgcggccgt agcagccggg ctggtcctgc tgcgagccgg cggcccggag
       61 tggggcggcg gcatgtacct tccacattga gtattcagaa agaagtgatc tgaactctga
      121 ccattcttta tggatacatt aagtcaaata taagagtctg actacttgac acactggctc
      181 gagcaaacat gaacgttgga gttgcccaca gtgaagtgaa tccaaatacc cgtgtcatga
      241 acagccgggg tatgtggctg acatatgcat tgggagttgg cttgcttcat attgtcttac
      301 tcagcattcc cttcttcagt gttcctgttg cttggacttt aacaaatatt atacataatc
      361 tggggatgta cgtatttttg catgcagtga aaggaacacc tttcgaaact cctgaccagg
      421 gtaaagcaag gctcctaact cattgggaac aactggacta tggagtacag tttacatctt
      481 cacggaagtt tttcacaatt tctccaataa ttctatattt tctggcaagt ttctatacga
      541 agtatgatcc aactcacttc atcctaaaca cagcttctct cctgagtgta ctaattccca
      601 aaatgccaca actacatggt gttcggatct ttggaattaa taagtattga aatgttttga
      661 aactgaaaaa aaattttaca gctactgaat ttcttataag gaaggagtgg ttagtaaact
      721 gcactgtttc tgtgataatg tgaaatgaga agtatttaca ttggagggcc aatggctggt
      781 ccttcaagtg ctgttttgaa gtgcagattt ccattaaatg atgcctctgt ttaatacacc
      841 tggtacattt ctgaagaggg gctttataag caggctgggc aggcccagct tataagttaa
      901 agggcatcac agtgagggtg tagtagataa attcaaggaa ataagagatt tgtaagaaac
      961 taggaccagc ttaacttata atgaatgggc attgtgttaa gaaaagaaca tttccagtca
     1021 ttcagctgtg gttatttaaa gcagacttac atgtaaaccg gaatcctctc tatacaagtt
     1081 tattaaagat tatttttatt accgtacata tttctcgttt tatgtaagcg gatgtatatc
     1141 ctcttgtttt atacaagcca gttcccactt atgagggtac ttttttggtt ttgctggctt
     1201 aatattgtgt attggtcaat gaggccattt ttacatttat tacgttacag agttcatgga
     1261 ggttcacctt tgtgactgat tggtgataaa agatagccaa gtgtcttaca agcagcttct
     1321 gagtcaagtg ttctaatttt ggaacaaagc aggttttact gcttttccag acacaaggct
     1381 gctaaaccaa ttaagaaaat aattaatttc tttcaagcaa ctaaaaaata tatggtaatt
     1441 taaaggtgtc tgcttatttg gttgaacaat ttaattggga aagtttgtca tcatttgaaa
     1501 aaggaaatat aaaaggaaca accatatagc caacctgtgg tctggcagaa acaacgtctc
     1561 tagcaatagt accaaagtaa gtaatggagt cttttttttg gcaggtctgc agtaaaagat
     1621 aacattttct tttcttagtc ctcctgctct caacccccat attttgcctt tgaatacgtg
     1681 ggttttagta tatatagccc aaaatggtaa ctgtctccag aacagcaacc acattgaatt
     1741 cttgtgactt aggaaagctt cttatagttg ctgacattaa ttgcaagaaa taactatata
     1801 ctactttgag aagtaaacat gtcaaaaaaa acaaagttca gatatgggac aaaatttaaa
     1861 aattcagtaa catttataaa cagaattgaa tgaaaagagt tacagaccaa cttaaacatc
     1921 aattcgtgtc agtaaactga cttttggggg taatgatcat tgttttgtat ctcaaaagta
     1981 ttgagtttag aaatcagttg tatgatacta cctttgtatg tctgtctttt cccgtgtatt
     2041 tttaaataac tggtgatcta taatttaata aaatttttcg ttggtgtaat attatttcaa
     2101 aagccctcca aatttagtca tcaaaattaa aatgacattt ttcaagttta
//
