LOCUS       NM_139280               2109 bp    mRNA    linear   PRI 27-MAY-2024
DEFINITION  Homo sapiens ORMDL sphingolipid biosynthesis regulator 3 (ORMDL3),
            transcript variant 2, mRNA.
ACCESSION   NM_139280
VERSION     NM_139280.4
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 2109)
  AUTHORS   Sharma,J., Khan,S., Singh,N.C., Sahu,S., Raj,D., Prakash,S.,
            Bandyopadhyay,P., Sarkar,K., Bhosale,V., Chandra,T., Kumaravelu,J.,
            Barthwal,M.K., Gupta,S.K., Srivastava,M., Guha,R., Ammanathan,V.,
            Ghoshal,U.C., Mitra,K. and Lahiri,A.
  TITLE     ORMDL3 regulates NLRP3 inflammasome activation by maintaining
            ER-mitochondria contacts in human macrophages and dictates
            ulcerative colitis patient outcome
  JOURNAL   J Biol Chem 300 (4), 107120 (2024)
   PUBMED   38417794
  REMARK    GeneRIF: ORMDL3 regulates NLRP3 inflammasome activation by
            maintaining ER-mitochondria contacts in human macrophages and
            dictates ulcerative colitis patient outcome.
REFERENCE   2  (bases 1 to 2109)
  AUTHORS   Cheng,Q., He,F., Zhao,W., Xu,X., Shang,Y. and Huang,W.
  TITLE     Histone acetylation regulates ORMDL3 expression-mediated NLRP3
            inflammasome overexpression during RSV-allergic exacerbation mice
  JOURNAL   J Cell Physiol 238 (12), 2904-2923 (2023)
   PUBMED   37877592
  REMARK    GeneRIF: Histone acetylation regulates ORMDL3 expression-mediated
            NLRP3 inflammasome overexpression during RSV-allergic exacerbation
            mice.
REFERENCE   3  (bases 1 to 2109)
  AUTHORS   Khoramipour,M., Jalali,A., Abbasi,B. and Hadi Abbasian,M.
  TITLE     Evaluation of the association between clinical parameters and
            ADAM33 and ORMDL3 asthma gene single-nucleotide polymorphisms with
            the severity of COVID-19
  JOURNAL   Int Immunopharmacol 123, 110707 (2023)
   PUBMED   37499392
  REMARK    GeneRIF: Evaluation of the association between clinical parameters
            and ADAM33 and ORMDL3 asthma gene single-nucleotide polymorphisms
            with the severity of COVID-19.
REFERENCE   4  (bases 1 to 2109)
  AUTHORS   Sun,Y., Guan,X., Zhang,T., Li,Y., Shi,H., Chitakunye,A.T., Hong,H.,
            Zhang,S., Zhu,Q. and Cai,L.
  TITLE     Regulation of the sensitivity of hepatocarcinoma cells by ORMDL3,
            to sorafenib by autophagy
  JOURNAL   Med Oncol 39 (11), 159 (2022)
   PUBMED   35972600
  REMARK    GeneRIF: Regulation of the sensitivity of hepatocarcinoma cells by
            ORMDL3, to sorafenib by autophagy.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2109)
  AUTHORS   Guo,F., Hao,Y., Zhang,L., Croteau-Chonka,D.C., Thibault,D.,
            Kothari,P., Li,L., Levy,B.D., Zhou,X. and Raby,B.A.
  TITLE     Asthma Susceptibility Gene ORMDL3 Promotes Autophagy in Human
            Bronchial Epithelium
  JOURNAL   Am J Respir Cell Mol Biol 66 (6), 661-670 (2022)
   PUBMED   35353673
  REMARK    GeneRIF: Asthma Susceptibility Gene ORMDL3 Promotes Autophagy in
            Human Bronchial Epithelium.
REFERENCE   6  (bases 1 to 2109)
  AUTHORS   Galanter,J., Choudhry,S., Eng,C., Nazario,S.,
            Rodriguez-Santana,J.R., Casal,J., Torres-Palacios,A., Salas,J.,
            Chapela,R., Watson,H.G., Meade,K., LeNoir,M., Rodriguez-Cintron,W.,
            Avila,P.C. and Burchard,E.G.
  TITLE     ORMDL3 gene is associated with asthma in three ethnically diverse
            populations
  JOURNAL   Am J Respir Crit Care Med 177 (11), 1194-1200 (2008)
   PUBMED   18310477
  REMARK    GeneRIF: results confirm associations between two SNPs within
            ORMDL3 and asthma in Mexicans and African Americans, and a trend
            toward association in Puerto Ricans
            GeneRIF: Observational study of gene-disease association and
            pharmacogenomic / toxicogenomic. (HuGE Navigator)
REFERENCE   7  (bases 1 to 2109)
  AUTHORS   Tavendale,R., Macgregor,D.F., Mukhopadhyay,S. and Palmer,C.N.
  TITLE     A polymorphism controlling ORMDL3 expression is associated with
            asthma that is poorly controlled by current medications
  JOURNAL   J Allergy Clin Immunol 121 (4), 860-863 (2008)
   PUBMED   18395550
  REMARK    GeneRIF: A common genetic variation at a locus (rs7216389)
            controlling expression of the ORMDL3 gene increases patient
            susceptibility to asthma and is associated with poor control of
            asthma symptoms in children and young adults.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2109)
  AUTHORS   Hirota,T., Harada,M., Sakashita,M., Doi,S., Miyatake,A., Fujita,K.,
            Enomoto,T., Ebisawa,M., Yoshihara,S., Noguchi,E., Saito,H.,
            Nakamura,Y. and Tamari,M.
  TITLE     Genetic polymorphism regulating ORM1-like 3 (Saccharomyces
            cerevisiae) expression is associated with childhood atopic asthma
            in a Japanese population
  JOURNAL   J Allergy Clin Immunol 121 (3), 769-770 (2008)
   PUBMED   18155279
  REMARK    GeneRIF: a significant association between susceptibility to
            childhood atopic asthma and the polymorphism regulating ORMDL3
            expression in a Japanese population
REFERENCE   9  (bases 1 to 2109)
  AUTHORS   Moffatt,M.F., Kabesch,M., Liang,L., Dixon,A.L., Strachan,D.,
            Heath,S., Depner,M., von Berg,A., Bufe,A., Rietschel,E.,
            Heinzmann,A., Simma,B., Frischer,T., Willis-Owen,S.A., Wong,K.C.,
            Illig,T., Vogelberg,C., Weiland,S.K., von Mutius,E., Abecasis,G.R.,
            Farrall,M., Gut,I.G., Lathrop,G.M. and Cookson,W.O.
  TITLE     Genetic variants regulating ORMDL3 expression contribute to the
            risk of childhood asthma
  JOURNAL   Nature 448 (7152), 470-473 (2007)
   PUBMED   17611496
  REMARK    GeneRIF: results indicate that genetic variants regulating ORMDL3
            expression are determinants of susceptibility to childhood asthma
            GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   10 (bases 1 to 2109)
  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
            HY004453.1, AF373101.1 and AC090844.7.
            
            On Nov 22, 2018 this sequence version replaced NM_139280.3.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 through 4 encode the same protein.
            
            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 :: AK074811.1, SRR3476690.726586.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304046.7/ ENSP00000304858.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-61                HY004453.1         51-111
            62-1940             AF373101.1         1-1879
            1941-1941           AC090844.7         103865-103865
            1942-2109           AF373101.1         1881-2048
FEATURES             Location/Qualifiers
     source          1..2109
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.1"
     gene            1..2109
                     /gene="ORMDL3"
                     /note="ORMDL sphingolipid biosynthesis regulator 3"
                     /db_xref="GeneID:94103"
                     /db_xref="HGNC:HGNC:16038"
                     /db_xref="MIM:610075"
     exon            1..118
                     /gene="ORMDL3"
                     /inference="alignment:Splign:2.1.0"
     exon            119..314
                     /gene="ORMDL3"
                     /inference="alignment:Splign:2.1.0"
     CDS             141..602
                     /gene="ORMDL3"
                     /codon_start=1
                     /product="ORM1-like protein 3"
                     /protein_id="NP_644809.1"
                     /db_xref="CCDS:CCDS11355.1"
                     /db_xref="GeneID:94103"
                     /db_xref="HGNC:HGNC:16038"
                     /db_xref="MIM:610075"
                     /translation="MNVGTAHSEVNPNTRVMNSRGIWLSYVLAIGLLHIVLLSIPFVS
                     VPVVWTLTNLIHNMGMYIFLHTVKGTPFETPDQGKARLLTHWEQMDYGVQFTASRKFL
                     TITPIVLYFLTSFYTKYDQIHFVLNTVSLMSVLIPKLPQLHGVRIFGINKY"
     exon            315..466
                     /gene="ORMDL3"
                     /inference="alignment:Splign:2.1.0"
     exon            467..2109
                     /gene="ORMDL3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2085..2090
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ORMDL3"
                     /note="hexamer: AATAAA"
     polyA_site      2109
                     /gene="ORMDL3"
                     /note="major polyA site"
ORIGIN      
        1 gattcggccg gagctgccag cggggaggct gcagccgcgg gttgttacag ctgctggagc
       61 agcagcggcc cccgctcccg ggaaccgttc ccgggccgtt gatcttcggc cccacacgaa
      121 cagcagagag gggcagcagg atgaatgtgg gcacagcgca cagcgaggtg aaccccaaca
      181 cgcgggtgat gaacagccgt ggcatctggc tctcctacgt gctggccatc ggtctcctcc
      241 acatcgtgct gctgagcatc ccgtttgtga gtgtccctgt cgtctggacc ctcaccaacc
      301 tcattcacaa catgggcatg tatatcttcc tgcacacggt gaaggggaca ccctttgaga
      361 ccccggacca gggcaaggcg aggctgctaa cccactggga gcagatggat tatggggtcc
      421 agttcacggc ctctcggaag ttcttgacca tcacacccat cgtgctgtac ttcctcacca
      481 gcttctacac taagtacgac cagatccatt ttgtgctcaa caccgtgtcc ctgatgagcg
      541 tgcttatccc caagctgccc cagctccacg gagtccggat ttttggaatc aataagtact
      601 gagagtgcag ccccttcccc tgcccagggt ggcaggggag gggtagggta aaaggcatgt
      661 gctgcaacac tgaagacaga aagaagaagc ctctggacac tgccagagat gggggttgag
      721 cctctggcct aatttccccc ctcgcttccc ccagtagcca acttggagta gcttgtagtg
      781 gggttggggt aggccccctg ggctctgacc ttttctgaat tttttgatct tttccttttg
      841 ctttttgaat agagactcca tggagttggt catggaatgg gctgggctcc tgggctgaac
      901 atggaccacg cagttgcgac aggaggccag gggaaaaacc cctgctcact tgtttgccct
      961 caggcagcca aagcacttta acccctgcat agggagcaga gggcggtacg gcttctggat
     1021 tgtttcactg tgattcctag gttttttcga tgccacgcag tgtgtgcttt tgtgtatgga
     1081 agcaagtgtg ggatgggtct ttgcctttct gggtagggag ctgtctaatc caagtcccag
     1141 gcttttggca gcttctctgc aacccaccgt gggtcctggt tgggagtggg gagggtcagg
     1201 ttggggaaag atggggtaga gtgtagatgg cttggttcca gaggtgaggg ggccagggct
     1261 gctgccatcc tggcctggtg gaggttgggg agctgtagga gagctagtga gtcgagactt
     1321 agaagaatgg ggccacatag cagcagagga ctggtgtaag ggagggaggg gtagggacag
     1381 aagctagacc caatctcctt tgggatgtgg gcagggaggg aagcaggctt ggagggttaa
     1441 tttacccaca gaatgtgata gtaatagggg agggaggctg ctgtgggttt aactcctggg
     1501 ttggctgttg ggtagacagg tggggaaaag gcccgtgagt cattgtaagc acaggtccaa
     1561 cttggccctg actcctgcgg gggtatgggg aagctgtgac agaaacgatg ggtgctgtgg
     1621 tcctctgcag gccctcaccc cttaacttcc tcatacagac tggcactggg cagggcctct
     1681 catgtggcag ccacatgtgg cgttgtgagg ccaccccatg tggggtctgt ggtgagagtc
     1741 ctgtaggatc cctgctcaag cagcacagag gaaggggcaa gacgtggcct gtaggcactg
     1801 tctcagcctg cagagaagaa agtgaggccg ggagcctgag cctgggctgg agccttctcc
     1861 cctccccagt tggactaggg gcagtgttaa ttttgaaaag gtgtgggtcc ctgtgtcctc
     1921 ttccaggggt ccaagggaac gggagaggtc actgggcctg ttttctccct cctgaccctg
     1981 catctcccac cccgtgtatc atagggaact ttcaccttaa aatctttcta agcaaagtgt
     2041 gaataggatt tttactccct ttgtacagta ttctgagaaa cgcaaataaa agggcaacat
     2101 gtttctgtt
//
