LOCUS       NM_024041               1913 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens sodium channel modifier 1 (SCNM1), transcript variant
            1, mRNA.
ACCESSION   NM_024041 XM_001721083
VERSION     NM_024041.4
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 1913)
  AUTHORS   Iturrate,A., Rivera-Barahona,A., Flores,C.L., Otaify,G.A.,
            Elhossini,R., Perez-Sanz,M.L., Nevado,J., Tenorio-Castano,J.,
            Trivino,J.C., Garcia-Gonzalo,F.R., Piceci-Sparascio,F., De Luca,A.,
            Martinez,L., Kalayci,T., Lapunzina,P., Altunoglu,U., Aglan,M.,
            Abdalla,E. and Ruiz-Perez,V.L.
  TITLE     Mutations in SCNM1 cause orofaciodigital syndrome due to minor
            intron splicing defects affecting primary cilia
  JOURNAL   Am J Hum Genet 109 (10), 1828-1849 (2022)
   PUBMED   36084634
  REMARK    GeneRIF: Mutations in SCNM1 cause orofaciodigital syndrome due to
            minor intron splicing defects affecting primary cilia.
REFERENCE   2  (bases 1 to 1913)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 1913)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 1913)
  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   5  (bases 1 to 1913)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1913)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   7  (bases 1 to 1913)
  AUTHORS   Yachie,N., Petsalaki,E., Mellor,J.C., Weile,J., Jacob,Y., Verby,M.,
            Ozturk,S.B., Li,S., Cote,A.G., Mosca,R., Knapp,J.J., Ko,M., Yu,A.,
            Gebbia,M., Sahni,N., Yi,S., Tyagi,T., Sheykhkarimli,D., Roth,J.F.,
            Wong,C., Musa,L., Snider,J., Liu,Y.C., Yu,H., Braun,P.,
            Stagljar,I., Hao,T., Calderwood,M.A., Pelletier,L., Aloy,P.,
            Hill,D.E., Vidal,M. and Roth,F.P.
  TITLE     Pooled-matrix protein interaction screens using Barcode Fusion
            Genetics
  JOURNAL   Mol Syst Biol 12 (4), 863 (2016)
   PUBMED   27107012
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1913)
  AUTHORS   Armour,S.M., Bennett,E.J., Braun,C.R., Zhang,X.Y., McMahon,S.B.,
            Gygi,S.P., Harper,J.W. and Sinclair,D.A.
  TITLE     A high-confidence interaction map identifies SIRT1 as a mediator of
            acetylation of USP22 and the SAGA coactivator complex
  JOURNAL   Mol Cell Biol 33 (8), 1487-1502 (2013)
   PUBMED   23382074
REFERENCE   9  (bases 1 to 1913)
  AUTHORS   Howell,V.M., Jones,J.M., Bergren,S.K., Li,L., Billi,A.C.,
            Avenarius,M.R. and Meisler,M.H.
  TITLE     Evidence for a direct role of the disease modifier SCNM1 in
            splicing
  JOURNAL   Hum Mol Genet 16 (20), 2506-2516 (2007)
   PUBMED   17656373
REFERENCE   10 (bases 1 to 1913)
  AUTHORS   Buchner,D.A., Trudeau,M. and Meisler,M.H.
  TITLE     SCNM1, a putative RNA splicing factor that modifies disease
            severity in mice
  JOURNAL   Science 301 (5635), 967-969 (2003)
   PUBMED   12920299
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL592424.13.
            
            On Jul 29, 2019 this sequence version replaced NM_024041.3.
            
            Summary: SCNM1 is a zinc finger protein and putative splicing
            factor. In mice, Scnm1 modifies phenotypic expression of Scn8a (MIM
            600702) mutations (Buchner et al., 2003 [PubMed
            12920299]).[supplied by OMIM, Oct 2009].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: AK056322.1, SRR7410570.93197.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368905.9/ ENSP00000357901.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-60                AL592424.13        60247-60306
            61-131              AL592424.13        60574-60644
            132-220             AL592424.13        61037-61125
            221-318             AL592424.13        61224-61321
            319-407             AL592424.13        61429-61517
            408-602             AL592424.13        62247-62441
            603-1913            AL592424.13        63089-64399
FEATURES             Location/Qualifiers
     source          1..1913
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..1913
                     /gene="SCNM1"
                     /gene_synonym="OFD19"
                     /note="sodium channel modifier 1"
                     /db_xref="GeneID:79005"
                     /db_xref="HGNC:HGNC:23136"
                     /db_xref="MIM:608095"
     exon            1..60
                     /gene="SCNM1"
                     /gene_synonym="OFD19"
                     /inference="alignment:Splign:2.1.0"
     CDS             10..702
                     /gene="SCNM1"
                     /gene_synonym="OFD19"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="sodium channel modifier 1 isoform 1"
                     /protein_id="NP_076946.1"
                     /db_xref="CCDS:CCDS987.1"
                     /db_xref="GeneID:79005"
                     /db_xref="HGNC:HGNC:23136"
                     /db_xref="MIM:608095"
                     /translation="MSFKREGDDWSQLNVLKKRRVGDLLASYIPEDEALMLRDGRFAC
                     AICPHRPVLDTLAMLTAHRAGKKHLSSLQLFYGKKQPGKERKQNPKHQNELRREETKA
                     EAPLLTQTRLITQSALHRAPHYNSCCRRKYRPEAPGPSVSLSPMPPSEVKLQSGKISR
                     EPEPAAGPQAEESATVSAPAPMSPTRRRALDHYLTLRSSGWIPDGRGRWVKDENVEFD
                     SDEEEPPDLPLD"
     exon            61..131
                     /gene="SCNM1"
                     /gene_synonym="OFD19"
                     /inference="alignment:Splign:2.1.0"
     exon            132..220
                     /gene="SCNM1"
                     /gene_synonym="OFD19"
                     /inference="alignment:Splign:2.1.0"
     exon            221..318
                     /gene="SCNM1"
                     /gene_synonym="OFD19"
                     /inference="alignment:Splign:2.1.0"
     exon            319..407
                     /gene="SCNM1"
                     /gene_synonym="OFD19"
                     /inference="alignment:Splign:2.1.0"
     exon            408..602
                     /gene="SCNM1"
                     /gene_synonym="OFD19"
                     /inference="alignment:Splign:2.1.0"
     exon            603..1913
                     /gene="SCNM1"
                     /gene_synonym="OFD19"
                     /inference="alignment:Splign:2.1.0"
     regulatory      731..736
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCNM1"
                     /gene_synonym="OFD19"
                     /note="hexamer: ATTACA"
     polyA_site      755
                     /gene="SCNM1"
                     /gene_synonym="OFD19"
                     /note="major polyA site"
     regulatory      1888..1893
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCNM1"
                     /gene_synonym="OFD19"
                     /note="hexamer: AATAAA"
     polyA_site      1913
                     /gene="SCNM1"
                     /gene_synonym="OFD19"
ORIGIN      
        1 acagtcgtga tgtctttcaa gagggaagga gacgattgga gtcaactcaa tgtgctcaaa
       61 aaaagaagag tcggggacct cctagccagt tacattccag aggatgaggc gctgatgctt
      121 cgggatggac gctttgcttg tgccatctgc ccccatcgac cggtactgga caccctggcc
      181 atgctgactg cccaccgtgc aggcaagaaa catctgtcca gcttgcagct tttctatggc
      241 aagaagcagc cgggaaagga aagaaagcag aatccaaaac atcagaatga attgagaagg
      301 gaagaaacca aagctgaggc tcctctgcta actcagacac gacttatcac ccagagtgct
      361 ctgcacagag ctccccacta taacagttgc tgccgccgga agtacagacc agaagcccct
      421 ggtccctctg tctccctttc ccctatgcca ccctcagagg tcaaactcca aagtgggaag
      481 atcagtaggg aacctgaacc tgcggctggc ccacaggccg aggagtcagc aactgtctca
      541 gcccctgcac ccatgagccc cacaagaaga cgagccctgg accattatct cacccttcga
      601 agctctggat ggatcccaga tggacgaggt cgatgggtaa aagatgaaaa tgttgagttt
      661 gactctgatg aggaggaacc acctgatctc cccttggact gatacccttt tcccattcat
      721 tcacaaataa attacaatgg gtgctgagaa cttaactttc cttaagtctg gttccttgtt
      781 ggatctcagg atttcagatc tgttcattct cattccaact actccttgcc tgcaaggtac
      841 acagctctcc acactccttt tttttttttt tttttttttg aggcagagtc tcgctctatc
      901 gcccaggctg gagtgcagtg gcacgatctc ggctcactgc aagctctgcc tcccaggttc
      961 acgcctttct cctgcctcag cctcctgagt agctgggact acaggcgccc gccaccatgc
     1021 ccagctaatt ttttgtattt ttagtagaga cggggtttca ctgtgttagc caggatggtc
     1081 tcgatctcct gacctcgtga tccgcccacc tcggcctccc aaagtgctgg gattacaggc
     1141 atgagccacc gcacccagcc acggctatcc atacttctaa cccctccccc acctcctacc
     1201 aaagccatgc caagcgtcag ctgcatcagc ctggtgccct attaataaga ctgtcaaaaa
     1261 gaggtctttg cccttcatgt tgtctgcctg cttctccact accactcaaa gtcctttccc
     1321 ccttcaaatc acataaggac tgcaggtagg cactaggggg acctggccac atctggaaac
     1381 agggctgtgg ctaagttccc tgtgaaagta gaagagtcaa aaggcattgg cagggttatg
     1441 gggaacacca agggagggaa cacccccacc tcctcctagt aacctgaacc tccctgcctg
     1501 ctgatcccca gagtataaat aatcccctgg tgaactggca gtaacccttg ggggttagcg
     1561 ccaagattct caccccaaag cccaaggaag gaggcaggca aaatggatag aagggctttt
     1621 atttacagga aaggaggaca gatgaggatt taagtgtcca gtgctcccag cgctagttgg
     1681 taaagggaaa tgcagtgtta tctcttcttt tgctggcgac ctgtaaagga gcaatattaa
     1741 acataagtgt ttgttccagc tcctgctttc tgcaaaggca ctcttctcct ttccagtccc
     1801 ttagccaaac tcataaattg gtagtgtctt aggccacctt acaggcccat cccacattaa
     1861 caaaacaaaa caagaaacca caccacaaat aaaattacga tacctctaaa caa
//
