Version 5.4
| Homo sapiens Gene: SNRPN | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-4192.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [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
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| 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] 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] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 15:24823647-24978723 | ||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||
| Band | q11.2 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Cross-References | |||||||||||||||||||
| SwissProt | P63162 | ||||||||||||||||||
| TrEMBL | B3KVR1 J3KRY3 J3QLE5 Q6LBS1 Q9UKR4 X5DP00 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 8926 | ||||||||||||||||||
| UniGene | |||||||||||||||||||
| RefSeq | NM_003097 NM_022805 NM_022806 NM_022807 NM_022808 | ||||||||||||||||||
| HUGO | HGNC:11164 | ||||||||||||||||||
| OMIM | 182279 | ||||||||||||||||||
| CCDS | CCDS10017 | ||||||||||||||||||
| HPRD | |||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AC090602 AC090983 AC124312 AF134832 AF400432 AK123119 BC000611 BC003180 BC024777 BC025178 CH471151 CR450350 J04615 KJ534946 U41303 X15892 X16163 | ||||||||||||||||||
| GenPept | AAA36617 AAA98969 AAD54487 AAH00611 AAH03180 AAH24777 AAH25178 AAK92481 AHW56586 BAG53873 CAA33901 CAA34288 CAG29346 EAW57613 EAW57614 EAW57615 EAW57616 EAW57617 EAW57618 EAW57619 EAW57620 EAW57621 EAW57622 EAW57623 | ||||||||||||||||||
| RNA Seq Atlas | 6638 8926 | ||||||||||||||||||