Homo sapiens Gene: SNRPN
Summary
InnateDB Gene IDBG-4192.5
Last Modified 2012-02-14 [Report errors or provide feedback]
Gene Symbol SNRPN
Gene Name small nuclear ribonucleoprotein polypeptide N
Synonyms HCERN3; PWCR; RT-LI; SM-D; sm-N; SMN; SNRNP-N; SNURF-SNRPN;
Species Homo sapiens
Ensembl Gene ENSG00000128739
Encoded Proteins
small nuclear ribonucleoprotein polypeptide N
SNRPN upstream reading frame
small nuclear ribonucleoprotein polypeptide N
small nuclear ribonucleoprotein polypeptide N
small nuclear ribonucleoprotein polypeptide N
small nuclear ribonucleoprotein polypeptide N
small nuclear ribonucleoprotein polypeptide N
Protein Structure
Entrez Gene
Summary This gene encodes a highly basic protein localized to the nucleus. The evolutionarily constrained open reading frame is found on a bicistronic transcript which has a downstream ORF encoding the small nuclear ribonucleoprotein polypeptide N. The upstream coding region utilizes the first three exons of the transcript, a region that has been identified as an imprinting center. Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region but the full-length nature of these transcripts has not been determined. An alternate exon has been identified that substitutes for exon 4 and leads to a truncated, monocistronic transcript. Alternative splicing or deletion caused by a translocation event in the 5' UTR or coding region of this gene leads to Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. The function of this protein is not yet known. [provided by RefSeq, Jul 2008] 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:25068794-25223870
Strand Forward strand
Band q11.2
Transcripts
ENST00000390687 ENSP00000375105
ENST00000346403 ENSP00000306223
ENST00000400100 ENSP00000382972
ENST00000400098 ENSP00000382970
ENST00000400097 ENSP00000382969
ENST00000444203 ENSP00000408767
ENST00000553597
ENST00000554227 ENSP00000452342
ENST00000584968 ENSP00000462211
ENST00000579070 ENSP00000463510
ENST00000577565 ENSP00000463458
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 45 experimentally validated interaction(s) in this database.
Experimentally validated
Total 45 [view]
Protein-Protein 45 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003723 RNA binding
GO:0005515 protein binding
Biological Process
GO:0008380 RNA splicing
GO:0009725 response to hormone stimulus
Cellular Component
GO:0005634 nucleus
GO:0005681 spliceosomal complex
GO:0005685 U1 snRNP
GO:0005686 U2 snRNP
GO:0030529 ribonucleoprotein complex
GO:0030532 small nuclear ribonucleoprotein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt P63162
TrEMBL B3KVR1 J3KRY3 J3QLE5 Q6LBS1 Q9UKR4
UniProt Splice Variant
Entrez Gene 8926
UniGene
RefSeq NM_003097 NM_005678 NM_022805 NM_022806 NM_022807 NM_022808
HUGO 11164
OMIM 182279
CCDS CCDS10017
HPRD 01653
IMGT
EMBL AC090602 AC090983 AC124312 AF134832 AF400432 AK123119 BC000611 BC003180 BC024777 BC025178 CR450350 J04615 U41303 X15892 X16163
GenPept AAA36617 AAA98969 AAD54487 AAH00611 AAH03180 AAH24777 AAH25178 AAK92481 BAG53873 CAA33901 CAA34288 CAG29346
ImmGen SNRPN (murine)
RNA Seq Atlas 6638 8926