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
IDBP-4198 small nuclear ribonucleoprotein polypeptide N
IDBP-4202 SNRPN upstream reading frame
IDBP-229002 small nuclear ribonucleoprotein polypeptide N
IDBP-229004 small nuclear ribonucleoprotein polypeptide N
IDBP-229006 small nuclear ribonucleoprotein polypeptide N
IDBP-362091 small nuclear ribonucleoprotein polypeptide N
IDBP-592703 small nuclear ribonucleoprotein polypeptide N
IDBP-746615
IDBP-747062
IDBP-747875
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 42 experimentally validated interaction(s) in this database.
Experimentally validated
Total 42 [view]
Protein‑Protein  42
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
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
ENSMUSG00000000948 Ortholuge Non-SSD Ortholog Possible paralog/unusual divergence/ gene prediction error
ENSBTAG00000008251 Not yet available Ortholuge Non-SSD Ortholog Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P63162 
TrEMBL B3KVR1 J3KRY3 J3QLE5 Q6LBS1 Q9UKR4
UniProt Splice Variant
Entrez Gene 6638  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