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Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_022805 Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10

*Business Day

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RefSeq Version NM_022805.2, 29540552
Length 1605 bp
Structure linear
Update Date 26-APR-2014
Organism Homo sapiens (human)
Definition Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 2, mRNA.
Product small nuclear ribonucleoprotein-associated protein N
Comment

Summary: The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex and belongs to the snRNP SMB/SMN family. The protein plays a role in pre-mRNA processing, possibly tissue-specific alternative splicing events. Although individual snRNPs are believed to recognize specific nucleic acid sequences through RNA-RNA base pairing, the specific role of this family member is unknown. The protein arises from a bicistronic transcript that also encodes a protein identified as the SNRPN upstream reading frame (SNURF). Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region. Additional splice variants have been described but sequences for the complete transcripts have not been determined. The 5' UTR of this gene has been identified as an imprinting center. Alternative splicing or deletion caused by a translocation event in this paternally-expressed region is responsible for Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (2) lacks exon 1 but utilizes upstream, non-coding exons u1A, u2 and u4. Alternative splicing takes place only in the 5' UTR, resulting in variants that all share exons 2-10, encoding identical proteins.

RefSeq NP_073716.1
CDS 745..1467
Misc Feature(1)1..166
Misc Feature(2)1..166
Misc Feature(3)167..240
Misc Feature(4)167..240
Misc Feature(5)241..354
Misc Feature(6)241..354
Misc Feature(7)646..648
Misc Feature(8)757..993
Misc Feature(9)757..993
Misc Feature(10)order(766..768,784..786,808..813,838..840,850..852,
Misc Feature(11)order(793..813,817..855,859..873)
Misc Feature(12)order(802..819,823..825,841..846,853..855,859..861,
Misc Feature(13)order(850..861,889..891,919..927,961..963,967..969)
Misc Feature(14)949..984
Misc Feature(15)1267..1452
Exon (1)1..166
Gene:SNRPN
Gene Synonym:HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN; SNRNP-N; SNURF-SNRPN
Exon (2)167..240
Gene:SNRPN
Gene Synonym:HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN; SNRNP-N; SNURF-SNRPN
Exon (3)241..354
Gene:SNRPN
Gene Synonym:HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN; SNRNP-N; SNURF-SNRPN
Exon (4)355..450
Gene:SNRPN
Gene Synonym:HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN; SNRNP-N; SNURF-SNRPN
Exon (5)451..601
Gene:SNRPN
Gene Synonym:HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN; SNRNP-N; SNURF-SNRPN
Exon (6)602..747
Gene:SNRPN
Gene Synonym:HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN; SNRNP-N; SNURF-SNRPN
Exon (7)748..899
Gene:SNRPN
Gene Synonym:HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN; SNRNP-N; SNURF-SNRPN
Exon (8)900..1011
Gene:SNRPN
Gene Synonym:HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN; SNRNP-N; SNURF-SNRPN
Exon (9)1012..1164
Gene:SNRPN
Gene Synonym:HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN; SNRNP-N; SNURF-SNRPN
Exon (10)1165..1303
Gene:SNRPN
Gene Synonym:HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN; SNRNP-N; SNURF-SNRPN
Exon (11)1304..1429
Gene:SNRPN
Gene Synonym:HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN; SNRNP-N; SNURF-SNRPN
Exon (12)1430..1605
Gene:SNRPN
Gene Synonym:HCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN; SNRNP-N; SNURF-SNRPN
Translation MTVGKSSKMLQHIDYRMRCILQDGRIFIGTFKAFDKHMNLILCDCDEFRKIKPKNAKQPE REEKRVLGLVLLRGENLVSMTVEGPPPKDTGIARVPLAGAAGGPGVGRAAGRGVPAGVPI PQAPAGLAGPVRGVGGPSQQVMTPQGRGTVAAAAVAATASIAGAPTQYPPGRGTPPPPVG RATPPPGIMAPPPGMRPPMGPPIGLPPARGTPIGMPPPGMRPPPPGIRGPPPPGMRPPRP
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Position Chain Variation Link
7+a, gdbSNP:61159950
131+c, tdbSNP:142805794
141+a, gdbSNP:752873
176+c, tdbSNP:80135925
280+a, tdbSNP:115572613
complement(367)-dbSNP:
complement(367)-g, adbSNP:426541
375+a, gdbSNP:371527962
392+a, gdbSNP:199839388
410+a, cdbSNP:11555312
448+a, gdbSNP:376718476
449+a, gdbSNP:145306813
465+dbSNP:
465+c, tdbSNP:372295822
469+c, gdbSNP:148434270
470+c, tdbSNP:375510236
471+a, gdbSNP:142583293
472+c, tdbSNP:150955815
514+a, gdbSNP:201516822
526+a, gdbSNP:200974605
564+c, tdbSNP:115773942
573+c, tdbSNP:372124469
580+c, tdbSNP:369310410
589+a, tdbSNP:372969461
604+dbSNP:
604+c, tdbSNP:146374207
606+a, cdbSNP:3210366
609+c, gdbSNP:3210367
614+a, cdbSNP:11555010
635+g, tdbSNP:190439178
656+c, tdbSNP:705
657+a, gdbSNP:201873312
706+a, gdbSNP:75184959
721+a, gdbSNP:199694871
735+a, cdbSNP:368498622
861+dbSNP:
861+g, tdbSNP:377759095
927+dbSNP:
927+c, tdbSNP:373215950
1005+c, gdbSNP:200650114
1011+c, tdbSNP:200092176
1021+dbSNP:
1021+g, tdbSNP:200334709
1084+g, tdbSNP:370688371
1091+c, tdbSNP:200977523
1104..1105+, cdbSNP:34310223
1107+a, cdbSNP:142287541
1152+a, tdbSNP:368006860
1171+dbSNP:
1171+a, tdbSNP:376675210
1206+a, tdbSNP:368621460
1211+c, tdbSNP:372352489
1218+c, tdbSNP:1048231
1249+c, tdbSNP:377153548
1269+a, gdbSNP:369947986
1278+c, g, tdbSNP:35757423
1282+a, gdbSNP:374810704
1291+a, gdbSNP:369210394
1300+c, tdbSNP:71461576
1368+dbSNP:
1368+c, g, tdbSNP:200487846
1377+a, gdbSNP:372752818
1401+a, gdbSNP:375488054
1435+dbSNP:
1435+c, tdbSNP:199833583
1480+c, tdbSNP:376058438
1491+a, tdbSNP:369397502
1492+c, g, tdbSNP:112904440
1500+c, tdbSNP:374839284
1510+a, gdbSNP:189125295
complement(1595)-g, adbSNP:143504129
complement(1601)-g, adbSNP:2732052
Gene SymbolSNRPN
Gene SynonymHCERN3; PWCR; PWS; RT-LI; SM-D; sm-N; SMN; SNRNP-N; SNURF-SNRPN
Chromosome15
Locus Map15q11.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_003097 Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 1, mRNA. In-stock $308.00 $259.00 10
NM_022806 Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 3, mRNA. In-stock $308.00 $259.00 10
NM_022808 Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 5, mRNA. In-stock $308.00 $259.00 10
NM_022805 Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 2, mRNA. In-stock $308.00 $259.00 10
NM_022807 Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 4, mRNA. In-stock $308.00 $259.00 10
Title Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism .
Author Corominas R, Yang X, Lin GN, Kang S, Shen Y, Ghamsari L, Broly M, Rodriguez M, Tam S, Trigg SA, Fan C, Yi S, Tasan M, Lemmens I, Kuang X, Zhao N, Malhotra D, Michaelson JJ, Vacic V, Calderwood MA, Roth FP, Tavernier J, Horvath S, Salehi-Ashtiani K, Korkin D, Sebat J, Hill DE, Hao T, Vidal M and Iakoucheva LM.
Journal Nat Commun 5, 3650 (2014)
Title Genome-wide association study of chronic periodontitis in a general German population .
Author Teumer A, Holtfreter B, Volker U, Petersmann A, Nauck M, Biffar R, Volzke H, Kroemer HK, Meisel P, Homuth G and Kocher T.
Journal J. Clin. Periodontol. 40 (11), 977-985 (2013)
Title The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A .
Author Runte M, Huttenhofer A, Gross S, Kiefmann M, Horsthemke B and Buiting K.
Journal Hum. Mol. Genet. 10 (23), 2687-2700 (2001)
Title Prader-Willi syndrome is caused by disruption of the SNRPN gene .
Author Kuslich CD, Kobori JA, Mohapatra G, Gregorio-King C and Donlon TA.
Journal Am. J. Hum. Genet. 64 (1), 70-76 (1999)
Title Identification of novel exons 3' to the human SNRPN gene .
Author Buiting K, Dittrich B, Endele S and Horsthemke B.
Journal Genomics 40 (1), 132-137 (1997)
Title Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome .
Author Reed ML and Leff SE.
Journal Nat. Genet. 6 (2), 163-167 (1994)
Title Autism Spectrum Disorders .
Author Miles,J.H., McCathren,R.B., Stichter,J. and Shinawi,M.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region .
Author Ozcelik T, Leff S, Robinson W, Donlon T, Lalande M, Sanjines E, Schinzel A and Francke U.
Journal Nat. Genet. 2 (4), 265-269 (1992)
Title The gene encoding the small nuclear ribonucleoprotein-associated protein N is expressed at high levels in neurons .
Author Schmauss C, Brines ML and Lerner MR.
Journal J. Biol. Chem. 267 (12), 8521-8529 (1992)
Title A comparison of snRNP-associated Sm-autoantigens: human N, rat N and human B/B' .
Author Schmauss C, McAllister G, Ohosone Y, Hardin JA and Lerner MR.
Journal Nucleic Acids Res. 17 (4), 1733-1743 (1989)

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