SCNM1_MOUSE
ID SCNM1_MOUSE Reviewed; 229 AA.
AC Q8K136; Q9CXV5;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Sodium channel modifier 1;
GN Name=Scnm1; Synonyms=Scnm1-ps;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, AND
RP INTERACTION WITH LUC7L2 AND SNRNP70.
RC STRAIN=C3Heb/FeJ; TISSUE=Brain;
RX PubMed=17656373; DOI=10.1093/hmg/ddm206;
RA Howell V.M., Jones J.M., Bergren S.K., Li L., Billi A.C., Avenarius M.R.,
RA Meisler M.H.;
RT "Evidence for a direct role of the disease modifier SCNM1 in splicing.";
RL Hum. Mol. Genet. 16:2506-2516(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ALLELE R187X).
RC STRAIN=C57BL/6J; TISSUE=Head;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC STRAIN=FVB/N; TISSUE=Colon;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP IDENTIFICATION OF ISOFORM 3, FUNCTION, SUBCELLULAR LOCATION, POLYMORPHISM,
RP AND DISEASE.
RX PubMed=12920299; DOI=10.1126/science.1086187;
RA Buchner D.A., Trudeau M., Meisler M.H.;
RT "SCNM1, a putative RNA splicing factor that modifies disease severity in
RT mice.";
RL Science 301:967-969(2003).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-182, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19144319; DOI=10.1016/j.immuni.2008.11.006;
RA Trost M., English L., Lemieux S., Courcelles M., Desjardins M.,
RA Thibault P.;
RT "The phagosomal proteome in interferon-gamma-activated macrophages.";
RL Immunity 30:143-154(2009).
CC -!- FUNCTION: Plays a role in alternative splicing of pre-mRNAs, possibly
CC by contributing to the selection of non-consensus donor sites.
CC {ECO:0000269|PubMed:12920299, ECO:0000269|PubMed:17656373}.
CC -!- SUBUNIT: Interacts with spliceosomal Sm proteins (By similarity).
CC Interacts with LUC7L2 and SNRNP70, which suggests a role as a
CC spliceosome component. {ECO:0000250|UniProtKB:Q9BWG6,
CC ECO:0000269|PubMed:17656373}.
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleoplasm
CC {ECO:0000269|PubMed:17656373}. Nucleus speckle
CC {ECO:0000269|PubMed:17656373}. Note=Colocalizes with LUC7L2 and SNRNP70
CC in nuclear speckles. {ECO:0000269|PubMed:17656373}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8K136-1; Sequence=Displayed;
CC Name=3;
CC IsoId=Q8K136-3; Sequence=VSP_021490;
CC -!- POLYMORPHISM: Strains C57BL/6J, C57BR/cdJ, C57L/J, C57BL/10J and C58/J
CC carry the R187X allele, in which a polymorphism generates a premature
CC stop codon, leading to either a truncated protein or an alternatively
CC spliced isoform 3. {ECO:0000269|PubMed:12920299}.
CC -!- DISEASE: Note=Allele R187X is a disease susceptibility variant, which
CC modifies the severity of the disease jolting mutant (medjo) caused by
CC defects in Scn8a. It reduces the abundance of correctly spliced Scn8a
CC transcripts below the threshold for survival thereby converting a
CC chronic movement disorder into a lethal neurological disease.
CC {ECO:0000269|PubMed:12920299}.
CC -!- MISCELLANEOUS: [Isoform 3]: Due to disruption of a consensus exonic
CC splicing enhancer in allele R187X, leading to exon 6 skipping. Only
CC found in strains C57BL/6J, C57BR/cdJ, C57L/J, C57BL/10J and C58/J.
CC {ECO:0000305}.
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DR EMBL; AK013948; BAB29077.1; -; mRNA.
DR EMBL; BC028867; AAH28867.1; -; mRNA.
DR CCDS; CCDS50986.1; -. [Q8K136-3]
DR RefSeq; NP_001157045.1; NM_001163573.1. [Q8K136-3]
DR RefSeq; NP_081289.2; NM_027013.2.
DR AlphaFoldDB; Q8K136; -.
DR SMR; Q8K136; -.
DR BioGRID; 213325; 1.
DR IntAct; Q8K136; 1.
DR STRING; 10090.ENSMUSP00000134337; -.
DR iPTMnet; Q8K136; -.
DR PhosphoSitePlus; Q8K136; -.
DR EPD; Q8K136; -.
DR jPOST; Q8K136; -.
DR MaxQB; Q8K136; -.
DR PeptideAtlas; Q8K136; -.
DR PRIDE; Q8K136; -.
DR ProteomicsDB; 253422; -. [Q8K136-1]
DR ProteomicsDB; 253423; -. [Q8K136-3]
DR Antibodypedia; 34055; 106 antibodies from 27 providers.
DR DNASU; 69269; -.
DR Ensembl; ENSMUST00000173462; ENSMUSP00000133769; ENSMUSG00000092607. [Q8K136-3]
DR GeneID; 69269; -.
DR KEGG; mmu:69269; -.
DR UCSC; uc012ctq.1; mouse. [Q8K136-1]
DR UCSC; uc012ctr.1; mouse. [Q8K136-3]
DR CTD; 79005; -.
DR MGI; MGI:1341284; Scnm1.
DR VEuPathDB; HostDB:ENSMUSG00000092607; -.
DR eggNOG; ENOG502QWNV; Eukaryota.
DR GeneTree; ENSGT00390000010811; -.
DR HOGENOM; CLU_059812_0_0_1; -.
DR InParanoid; Q8K136; -.
DR OMA; CTHRPIF; -.
DR OrthoDB; 1557322at2759; -.
DR BioGRID-ORCS; 69269; 3 hits in 73 CRISPR screens.
DR ChiTaRS; Scnm1; mouse.
DR PRO; PR:Q8K136; -.
DR Proteomes; UP000000589; Chromosome 3.
DR RNAct; Q8K136; protein.
DR Bgee; ENSMUSG00000092607; Expressed in retinal neural layer and 250 other tissues.
DR ExpressionAtlas; Q8K136; baseline and differential.
DR GO; GO:0016607; C:nuclear speck; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:MGI.
DR GO; GO:0019899; F:enzyme binding; ISO:MGI.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000380; P:alternative mRNA splicing, via spliceosome; IMP:UniProtKB.
DR GO; GO:0008380; P:RNA splicing; IMP:MGI.
DR InterPro; IPR033570; SCNM1.
DR InterPro; IPR031625; SCNM1_acidic.
DR InterPro; IPR031622; Znf-SCNM1.
DR PANTHER; PTHR32297; PTHR32297; 1.
DR Pfam; PF15805; SCNM1_acidic; 1.
DR Pfam; PF15803; zf-SCNM1; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Isopeptide bond; Metal-binding; mRNA processing;
KW mRNA splicing; Nucleus; Phosphoprotein; Reference proteome;
KW Ubl conjugation; Zinc; Zinc-finger.
FT CHAIN 1..229
FT /note="Sodium channel modifier 1"
FT /id="PRO_0000259636"
FT ZN_FING 42..74
FT /note="Matrin-type"
FT REGION 80..105
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 128..187
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 187..229
FT /note="Required for interaction with LUC7L2"
FT /evidence="ECO:0000269|PubMed:17656373"
FT MOTIF 4..20
FT /note="Bipartite nuclear localization signal"
FT /evidence="ECO:0000255"
FT COMPBIAS 81..105
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 2
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9BWG6"
FT MOD_RES 182
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:19144319"
FT MOD_RES 218
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9BWG6"
FT CROSSLNK 67
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0000250|UniProtKB:Q9BWG6"
FT VAR_SEQ 132..196
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_021490"
FT VARIANT 187..229
FT /note="Missing (in allele R187X)"
SQ SEQUENCE 229 AA; 25823 MW; BFE63B0E8A3361B9 CRC64;
MSFKREGDDW SQLNVLKKRR VGDLLASYIP EDEALMLRDG RFACAICPHR PVLDTLAMLT
AHRAGKKHLS SLKLFYGKKQ TGKGTEQNPR QQNELKTESK TEAPLLTQTR IITQNALHRA
PHYNSCCRRK HRPEAPAPSV SSPPLPTAEV QLQSAEISKE PEPRERSDAK ESAALLASAP
MSPTKRRVLN HYLTLRSSGW VPDGRGRWIK DENVEFDSDE EEPPDLPLD
