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
//