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  7. Small nuclear ribonucleoprotein-associated protein N

Tbio Small nuclear ribonucleoprotein-associated protein N

May be involved in tissue-specific alternative RNA processing events.

This gene is located within the Prader-Willi Syndrome critical region on chromosome 15. Transcripts produced from this gene initiate at an imprinting center and are paternally-imprinted. These transcripts may be bicistronic and also encode SNRPN (small nuclear ribonucleoprotein polypeptide N) from a downstream open reading frame. The small protein represented by this gene is encoded by an evolutionarily-conserved upstream open reading frame and is localized to the nucleus. Extensive alternative splicing and promoter usage occurs in this region and the full-length nature of some of these transcripts has not been determined. Alterations in the imprinting center are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]

 Comments

Property Summary

NCBI Gene PubMed Count 23
PubMed Score 45.00
PubTator Score 7.53

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Prader-Willi syndrome 48 6.365 3.2
Angelman syndrome 34 5.749 2.9

Expression

  Differential Expression (13)

Disease log2 FC p
adult high grade glioma -1.400 4.6e-08
atypical teratoid / rhabdoid tumor -1.200 1.7e-05
ependymoma -1.400 3.8e-02
glioblastoma -1.300 8.5e-09
intraductal papillary-mucinous carcinoma... -1.700 3.2e-03
intraductal papillary-mucinous neoplasm ... -2.800 9.1e-03
lung cancer 1.200 1.9e-04
malignant mesothelioma -6.300 5.7e-09
medulloblastoma, large-cell -1.500 5.9e-06
Multiple myeloma 1.153 8.7e-03
ovarian cancer -2.100 9.2e-05
sonic hedgehog group medulloblastoma -1.100 4.9e-08
subependymal giant cell astrocytoma -1.581 5.3e-03

Synonym

Accession P63162 B3KVR1 P14648 P17135 Q0D2Q5 snRNP-N
Symbols

Gene

SNURF

PANTHER Protein Class (4)

PDB

5MF9  

  Ortholog (1)

Species Source Disease
Chimp OMA Inparanoid

 UniProt Keyword (10)

 GO Function (1)

 GO Component (11)

See all...

 GO Process (3)

 Compartment GO Term (37)

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 HCA RNA Cell Line (56)

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Pathway (2)

Protein-protein Interaction (86)

SNRPC   LSM2   LSM4   SNRPA   SNRPB2   WDR77   PDCD7   PRPF3   SART3   SF3B1   PRMT5   TOE1   PRPF6   SNRNP200   PRPF8   TFIP11   TUT1   SF3B2   HTATSF1   EFTUD2   PRPF4   SNRNP35   CRTAP   XAB2   GPATCH1   DHX35   PAXBP1   SLC4A1AP   CRNKL1   DPP8   BUD31   DDX23   PRPF31   SF3A1   GEMIN8   AQR   WDR83   SNU13   SKAP2   TGS1   FARP1   SF3B4   EPB41L3   SNRNP48   CDC40   COIL   ZRSR2   SF3A3   SNRNP70   WBP4   CWF19L2   SNRPD2   CLNS1A   CCDC12   COPRS   ESS2   ISY1   NOL7   SF3A2   RNPC3   CMTR2   LSM8   MEPCE   SNRNP27   SNRPA1   GEMIN5   RBM42   RIOK1   SYF2   TXNL4A   ZMAT5   AKAP7   EAPP   SNRPD3   PRKRIP1   CD2BP2   CSTF1   LSM6   SNUPN   GPATCH11   SNRPD1   SF3B5   TRA2A   GEMIN2   TSSC4   LSM11  

Gene RIF (5)

AA Sequence 

MTVGKSSKMLQHIDYRMRCILQDGRIFIGTFKAFDKHMNLILCDCDEFRKIKPKNAKQPEREEKRVLGLV      1 - 70
LLRGENLVSMTVEGPPPKDTGIARVPLAGAAGGPGVGRAAGRGVPAGVPIPQAPAGLAGPVRGVGGPSQQ     71 - 140
VMTPQGRGTVAAAAVAATASIAGAPTQYPPGRGTPPPPVGRATPPPGIMAPPPGMRPPMGPPIGLPPARG    141 - 210
TPIGMPPPGMRPPPPGIRGPPPPGMRPPRP                                            211 - 240
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Text Mined References (27)

PMID Year Title