SNRPN small nuclear ribonucleoprotein polypeptide N [Homo sapiens (human)]
| Gene Symbol | SNRPN |
| Entrez Gene ID | 6638 |
| Full Name | small nuclear ribonucleoprotein polypeptide N |
| Synonyms | DKFZp686C0927, DKFZp686M12165, DKFZp761I1912, DKFZp762N022, FLJ33569, FLJ36996, FLJ39265, HCERN3, MGC29886, PWCR, RT-LI, SM-D, SMN, SNRNP-N, SNURF-SNRPN |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
15 15q11.2 |
| 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]. |
| Disorder | MIM: 182279 Prader-Willi syndrome, 176270 (3) |
| mRNA | NM_022805, 29540552 |
| Protein | NP_073716, 13027644 |
| Product | small nuclear ribonucleoprotein-associated protein N |
| RefSeq Status | REVIEWED |
| mRNA | NM_022808, 29540555 |
| Protein | NP_073719, 13027650 |
| Product | small nuclear ribonucleoprotein-associated protein N |
| RefSeq Status | REVIEWED |
| mRNA | NM_022806, 29540553 |
| Protein | NP_073717, 13027646 |
| Product | small nuclear ribonucleoprotein-associated protein N |
| RefSeq Status | REVIEWED |
| mRNA | NM_003097, 29540556 |
| Protein | NP_003088, 4507135 |
| Product | small nuclear ribonucleoprotein-associated protein N |
| RefSeq Status | REVIEWED |
| mRNA | NM_022807, 29540554 |
| Protein | NP_073718, 13027648 |
| Product | small nuclear ribonucleoprotein-associated protein N |
| RefSeq Status | REVIEWED |
| WP411 | mRNA processing |
| Homo sapiens (human) | SNRPN | NP_073719.1 |
| Pan troglodytes (chimpanzee) | SNRPN | XP_523182.2 |
| Canis lupus familiaris (dog) | SNRPN | XP_536165.1 |
| Bos taurus (cattle) | SNRPN | NP_001073265.1 |
| Mus musculus (house mouse) | Snrpn | NP_001076430.1 |
| Rattus norvegicus (Norway rat) | Snrpn | NP_112379.1 |
| ID | Name | Evidence |
| GO:0008380 | RNA splicing | TAS |
Component
| ID | Name | Evidence |
| GO:0005634 | nucleus | IEA |
| GO:0005681 | spliceosomal complex | TAS |
| GO:0030532 | small nuclear ribonucleoprotein complex | TAS |
Function
| ID | Name | Evidence |
| GO:0003723 | RNA binding | IEA |
| GO:0005515 | protein binding | IPI |
| GO:0042802 | identical protein binding | IPI |
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