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small nuclear ribonucleoprotein-associated protein N isoform b [Homo sapiens]

NCBI Reference Sequence: NP_001387575.1

Identical Proteins FASTA Graphics 

LOCUS       NP_001387575             240 aa            linear   PRI 08-APR-2024
DEFINITION  small nuclear ribonucleoprotein-associated protein N isoform b
            [Homo sapiens].
ACCESSION   NP_001387575
VERSION     NP_001387575.1
DBSOURCE    REFSEQ: accession NM_001400646.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 240)
  AUTHORS   Timalsina,B., Choi,H.J. and Moon,I.S.
  TITLE     N-Acetylglucosamine Kinase-Small Nuclear Ribonucleoprotein
            Polypeptide N Interaction Promotes Axodendritic Branching in
            Neurons via Dynein-Mediated Microtubule Transport
  JOURNAL   Int J Mol Sci 24 (14), 11672 (2023)
   PUBMED   37511433
  REMARK    GeneRIF: N-Acetylglucosamine Kinase-Small Nuclear Ribonucleoprotein
            Polypeptide N Interaction Promotes Axodendritic Branching in
            Neurons via Dynein-Mediated Microtubule Transport.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 240)
  AUTHORS   Song,Y., Guo,F., Zhao,Y.Y., Ma,X.J., Wu,L.N., Yu,J.F., Ji,H.F.,
            Shao,M.W., Huang,F.J., Zhao,L., Fan,X.J., Xu,Y.N., Wang,Q.Z. and
            Qin,G.J.
  TITLE     Novel lncRNA-prader willi/angelman region RNA, SNRPN neighbour
            (PWARSN) aggravates tubular epithelial cell pyroptosis by
            regulating TXNIP via dual way in diabetic kidney disease
  JOURNAL   Cell Prolif 56 (2), e13349 (2023)
   PUBMED   36316968
  REMARK    GeneRIF: Novel lncRNA-prader willi/angelman region RNA, SNRPN
            neighbour (PWARSN) aggravates tubular epithelial cell pyroptosis by
            regulating TXNIP via dual way in diabetic kidney disease.
REFERENCE   3  (residues 1 to 240)
  AUTHORS   Chevalier,B., Baatallah,N., Najm,M., Castanier,S., Jung,V.,
            Pranke,I., Golec,A., Stoven,V., Marullo,S., Antigny,F.,
            Guerrera,I.C., Sermet-Gaudelus,I., Edelman,A. and Hinzpeter,A.
  TITLE     Differential CFTR-Interactome Proximity Labeling Procedures
            Identify Enrichment in Multiple SLC Transporters
  JOURNAL   Int J Mol Sci 23 (16), 8937 (2022)
   PUBMED   36012204
  REMARK    Publication Status: Online-Only
REFERENCE   4  (residues 1 to 240)
  AUTHORS   Gray,T.A., Saitoh,S. and Nicholls,R.D.
  TITLE     An imprinted, mammalian bicistronic transcript encodes two
            independent proteins
  JOURNAL   Proc Natl Acad Sci U S A 96 (10), 5616-5621 (1999)
   PUBMED   10318933
REFERENCE   5  (residues 1 to 240)
  AUTHORS   Kuslich,C.D., Kobori,J.A., Mohapatra,G., Gregorio-King,C. and
            Donlon,T.A.
  TITLE     Prader-Willi syndrome is caused by disruption of the SNRPN gene
  JOURNAL   Am J Hum Genet 64 (1), 70-76 (1999)
   PUBMED   9915945
REFERENCE   6  (residues 1 to 240)
  AUTHORS   Reed,M.L. and Leff,S.E.
  TITLE     Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi
            syndrome
  JOURNAL   Nat Genet 6 (2), 163-167 (1994)
   PUBMED   7512861
  REMARK    GeneRIF: SNRPN gene is imprinted, with monoallelic expression from
            the paternal allele in fetal brain and heart, and in adult brain.
REFERENCE   7  (residues 1 to 240)
  AUTHORS   Glenn,C.C., Porter,K.A., Jong,M.T., Nicholls,R.D. and Driscoll,D.J.
  TITLE     Functional imprinting and epigenetic modification of the human
            SNRPN gene
  JOURNAL   Hum Mol Genet 2 (12), 2001-2005 (1993)
   PUBMED   8111367
REFERENCE   8  (residues 1 to 240)
  AUTHORS   Ozcelik,T., Leff,S., Robinson,W., Donlon,T., Lalande,M.,
            Sanjines,E., Schinzel,A. and Francke,U.
  TITLE     Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed
            gene in the Prader-Willi syndrome critical region
  JOURNAL   Nat Genet 2 (4), 265-269 (1992)
   PUBMED   1303277
REFERENCE   9  (residues 1 to 240)
  AUTHORS   Leff,S.E., Brannan,C.I., Reed,M.L., Ozcelik,T., Francke,U.,
            Copeland,N.G. and Jenkins,N.A.
  TITLE     Maternal imprinting of the mouse Snrpn gene and conserved linkage
            homology with the human Prader-Willi syndrome region
  JOURNAL   Nat Genet 2 (4), 259-264 (1992)
   PUBMED   1303276
REFERENCE   10 (residues 1 to 240)
  AUTHORS   Schmauss,C., Brines,M.L. and Lerner,M.R.
  TITLE     The gene encoding the small nuclear ribonucleoprotein-associated
            protein N is expressed at high levels in neurons
  JOURNAL   J Biol Chem 267 (12), 8521-8529 (1992)
   PUBMED   1533223
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090983.13, AC090602.16 and
            AC124312.5.
            
            Summary: This gene is located within the Prader-Willi Syndrome
            critical region on chromosome 15 and is imprinted and expressed
            from the paternal allele. It encodes a component of the small
            nuclear ribonucleoprotein complex, which functions in pre-mRNA
            processing and may contribute to tissue-specific alternative
            splicing. Alternative promoter use and alternative splicing result
            in a multitude of transcript variants encoding the same protein.
            Transcript variants that initiate at the CpG island-associated
            imprinting center may be bicistronic and also encode the SNRPN
            upstream reading frame protein (SNURF) from an upstream open
            reading frame. In addition, long spliced transcripts for small
            nucleolar RNA host gene 14 (SNHG14) may originate from the
            promoters at this locus and share exons with this gene. Alterations
            in this region are associated with parental imprint switch failure,
            which may cause Angelman syndrome or Prader-Willi syndrome.
            [provided by RefSeq, Mar 2017].
            
            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 :: SRR1803614.117184.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMN03465404
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            imprinted gene :: PMID: 7512861
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..240
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q11.2"
     Protein         1..240
                     /product="small nuclear ribonucleoprotein-associated
                     protein N isoform b"
                     /note="tissue-specific splicing protein; SM protein N;
                     small nuclear ribonucleoprotein-associated protein N; sm
                     protein D"
                     /calculated_mol_wt=24483
     Region          5..83
                     /region_name="Sm_B"
                     /note="Sm protein B; cd01717"
                     /db_xref="CDD:212464"
     Site            order(8,14,22..23,32,36,43..44,69..82)
                     /site_type="other"
                     /note="heptamer interface [polypeptide binding]"
                     /db_xref="CDD:212464"
     Site            order(17..23,25..37,39..43)
                     /site_type="other"
                     /note="Sm1 motif"
                     /db_xref="CDD:212464"
     Site            order(20..25,27,33..34,37,39,41,60,65,67,69..79)
                     /site_type="other"
                     /note="putative hexamer interface [polypeptide binding]"
                     /db_xref="CDD:212464"
     Site            order(36..39,49,59..61,73,75)
                     /site_type="other"
                     /note="RNA binding site [nucleotide binding]"
                     /db_xref="CDD:212464"
     Site            69..80
                     /site_type="other"
                     /note="Sm2 motif"
                     /db_xref="CDD:212464"
     Site            108
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P14678; Dimethylated
                     arginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P14678;
                     Omega-N-methylarginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P63163; propagated from
                     UniProtKB/Swiss-Prot (P63162.1)"
     Site            112
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P14678; Dimethylated
                     arginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P14678;
                     Omega-N-methylarginine, alternate.
                     /evidence=ECO:0000250|UniProtKB:P14678; propagated from
                     UniProtKB/Swiss-Prot (P63162.1)"
     Site            147
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0000250|UniProtKB:P14678; propagated from
                     UniProtKB/Swiss-Prot (P63162.1)"
     Region          163..240
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P63162.1)"
     Site            172
                     /site_type="methylation"
                     /note="Omega-N-methylarginine.
                     /evidence=ECO:0007744|PubMed:24129315; propagated from
                     UniProtKB/Swiss-Prot (P63162.1)"
     Region          175..236
                     /region_name="Repeat-rich region"
                     /note="propagated from UniProtKB/Swiss-Prot (P63162.1)"
     CDS             1..240
                     /gene="SNRPN"
                     /gene_synonym="HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN;
                     SNRNP-N; SNURF-SNRPN"
                     /coded_by="NM_001400646.1:1013..1735"
                     /note="isoform b is encoded by transcript variant 36"
                     /db_xref="CCDS:CCDS10017.1"
                     /db_xref="GeneID:6638"
                     /db_xref="HGNC:HGNC:11164"
                     /db_xref="MIM:182279"
ORIGIN      
        1 mtvgksskml qhidyrmrci lqdgrifigt fkafdkhmnl ilcdcdefrk ikpknakqpe
       61 reekrvlglv llrgenlvsm tvegpppkdt giarvplaga aggpgvgraa grgvpagvpi
      121 pqapaglagp vrgvggpsqq vmtpqgrgtv aaaavaatas iagaptqypp grgtppppvg
      181 ratpppgima pppgmrppmg ppiglpparg tpigmpppgm rppppgirgp pppgmrpprp
//
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