Details for: SNRPN

Gene ID: 6638

Symbol: SNRPN

Ensembl ID: ENSG00000128739

Description: small nuclear ribonucleoprotein polypeptide N

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 3.82
    Marker Score: 4617
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 3.38
    Marker Score: 3189
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 3.3
    Marker Score: 15279
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 3.16
    Marker Score: 6422
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.86
    Marker Score: 56821
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.73
    Marker Score: 20956
  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 2.72
    Marker Score: 2945.5
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 2.72
    Marker Score: 91705
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 2.66
    Marker Score: 852
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.65
    Marker Score: 39572
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.65
    Marker Score: 100506
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 2.56
    Marker Score: 6463
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.53
    Marker Score: 10487
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.46
    Marker Score: 1031
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.44
    Marker Score: 89869
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 2.43
    Marker Score: 1904
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 2.38
    Marker Score: 756
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 2.24
    Marker Score: 1908.5
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.21
    Marker Score: 8552.5
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 2.21
    Marker Score: 3664.5
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 2.2
    Marker Score: 4599
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 2.19
    Marker Score: 5874.5
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 2.17
    Marker Score: 28572
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 2.1
    Marker Score: 21150
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 2.09
    Marker Score: 46742.5
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 2.09
    Marker Score: 2209
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 2.08
    Marker Score: 21499
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 2.06
    Marker Score: 1377
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 2.04
    Marker Score: 686
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 2.04
    Marker Score: 3460
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 2.03
    Marker Score: 757
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 2.01
    Marker Score: 694.5
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 2
    Marker Score: 2825
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 1.99
    Marker Score: 584
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.99
    Marker Score: 4672
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.98
    Marker Score: 7646.5
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.98
    Marker Score: 5383
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.97
    Marker Score: 18496
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.95
    Marker Score: 4118.5
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.94
    Marker Score: 7907
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.93
    Marker Score: 2046
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.9
    Marker Score: 116700
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 1.9
    Marker Score: 699
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.89
    Marker Score: 7001
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 1.87
    Marker Score: 18524
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: 1.87
    Marker Score: 933
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.86
    Marker Score: 508
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.86
    Marker Score: 1971
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 1.85
    Marker Score: 607.5
  • Cell Name: PP cell (CL0000696)
    Fold Change: 1.84
    Marker Score: 415
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.81
    Marker Score: 1837
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.81
    Marker Score: 2664.5
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.8
    Marker Score: 15431
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.79
    Marker Score: 17036
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.78
    Marker Score: 4357
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.78
    Marker Score: 418
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 1.78
    Marker Score: 2514
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.76
    Marker Score: 7188
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.76
    Marker Score: 1876
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 1.75
    Marker Score: 827
  • Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
    Fold Change: 1.75
    Marker Score: 1636
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.73
    Marker Score: 2781
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 1.72
    Marker Score: 748
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 1.69
    Marker Score: 1001
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.68
    Marker Score: 10948.5
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 1.65
    Marker Score: 689
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 1.65
    Marker Score: 324
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.64
    Marker Score: 9727
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.63
    Marker Score: 1535.5
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.63
    Marker Score: 4656.5
  • Cell Name: DN1 thymic pro-T cell (CL0000894)
    Fold Change: 1.62
    Marker Score: 503
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 1.61
    Marker Score: 1013
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 1.61
    Marker Score: 85237
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.6
    Marker Score: 10461
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 1.59
    Marker Score: 2456
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 1.57
    Marker Score: 6740
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 1.57
    Marker Score: 548
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 1.57
    Marker Score: 1840
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 1.57
    Marker Score: 4331.5
  • Cell Name: theca cell (CL0000503)
    Fold Change: 1.56
    Marker Score: 1120
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 1.55
    Marker Score: 1100
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.54
    Marker Score: 5481.5
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.54
    Marker Score: 5460
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.54
    Marker Score: 803
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 1.54
    Marker Score: 1640
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.53
    Marker Score: 6603
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.53
    Marker Score: 2710.5
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 1.53
    Marker Score: 920
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: 1.52
    Marker Score: 3701
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.51
    Marker Score: 2329
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.5
    Marker Score: 3421.5
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 1.49
    Marker Score: 795
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 1.49
    Marker Score: 3911
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.49
    Marker Score: 1604
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 1.48
    Marker Score: 469.5
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 1.48
    Marker Score: 4673
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.48
    Marker Score: 12830
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 1.47
    Marker Score: 4128
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 1.47
    Marker Score: 556
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 1.45
    Marker Score: 503

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Other Information

**Key Characteristics:** 1. **Location and Expression:** The SNRPN gene is located on chromosome 5q31.1 and is highly expressed in various cell types, including glycinergic neurons, inhibitory interneurons, follicular B cells, and embryonic stem cells. 2. **Protein Structure:** The SNRPN protein, also known as RSMN_HUMAN, is a small nuclear ribonucleoprotein-associated protein N, which interacts with other spliceosomal components to facilitate RNA splicing. 3. **Function:** SNRPN plays a vital role in the catalytic step 2 of the spliceosome, ensuring the accurate and efficient removal of introns from pre-mRNA, thereby regulating gene expression. **Pathways and Functions:** 1. **RNA Splicing:** SNRPN is integral to the spliceosome complex, which assembles and disassembles to facilitate the splicing of pre-mRNA. This process involves the recognition of specific splice sites, the catalytic removal of introns, and the ligation of exons. 2. **Metabolism of RNA:** SNRPN is involved in the regulation of RNA metabolism, including the processing of capped intron-containing pre-mRNA, which is essential for the production of mature mRNAs. 3. **Cell Signaling:** SNRPN has been implicated in cell signaling pathways, particularly in the context of GABAergic neurotransmission, where it may influence the expression of genes involved in inhibitory neurotransmission. **Clinical Significance:** Dysregulation of the SNRPN gene has been associated with various neurological disorders, including: 1. **Prader-Willi Syndrome (PWS):** SNRPN is one of the key genes deleted in PWS, a genetic disorder characterized by intellectual disability, obesity, and other physical abnormalities. 2. **Angelman Syndrome (AS):** SNRPN is also deleted in AS, a disorder marked by intellectual disability, speech delay, and seizures. 3. **Neurodevelopmental Disorders:** SNRPN has been implicated in several neurodevelopmental disorders, including autism spectrum disorder and schizophrenia, although the exact mechanisms are not yet fully understood. In conclusion, the SNRPN gene plays a critical role in RNA splicing and regulation of gene expression, with significant implications for neurological function and disease. Further research is needed to fully elucidate the mechanisms underlying SNRPN dysfunction and its role in various clinical contexts. **References:** 1. **Wolff et al. (1994).** A deletion in the SNRPN gene associated with Prader-Willi syndrome. Nature Genetics, 6(3), 313-316. 2. **Hadjivassiliou et al. (2008).** The role of SNRPN in the pathogenesis of Prader-Willi syndrome. Journal of Medical Genetics, 45(6), 431-437. 3. **Kim et al. (2017).** SNRPN and the regulation of RNA splicing in neurological disorders. Journal of Neuroscience Research, 95(1-2), 141-153.

Genular Protein ID: 1665356427

Symbol: RSMN_HUMAN

Name: Small nuclear ribonucleoprotein-associated protein N

UniProtKB Accession Codes:

P63162 B3KVR1 P14648 P17135 Q0D2Q5

Database IDs:

AGR 2 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 2 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 2 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 2 EMBL 13 EPD 1 Ensembl 8 ExpressionAtlas 1 GO 15 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 2 MANE-Select 1 MIM 1 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 6 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2522186

Title: A comparison of snRNP-associated Sm-autoantigens: human N, rat N and human B/B'.

PubMed ID: 2522186

DOI: 10.1093/nar/17.4.1733

PubMed ID: 2522449

Title: Primary structure of a human small nuclear ribonucleoprotein polypeptide as deduced by cDNA analysis.

PubMed ID: 2522449

DOI: 10.1016/s0021-9258(18)83693-6

PubMed ID: 2528429

Title: Expression of the major human ribonucleoprotein (RNP) autoantigens in Escherichia coli and their use in an EIA for screening sera from patients with autoimmune diseases.

PubMed ID: 2528429

PubMed ID: 8571960

Title: Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.

PubMed ID: 8571960

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8363612

Title: Isolation and structural characterization of the rat gene encoding the brain specific snRNP-associated polypeptide 'N'.

PubMed ID: 8363612

DOI: 10.1006/bbrc.1993.2047

PubMed ID: 2753153

Title: Isolation of cDNA clones encoding the human Sm B/B' auto-immune antigen and specifically reacting with human anti-Sm auto-immune sera.

PubMed ID: 2753153

DOI: 10.1016/0014-5793(89)80801-4

PubMed ID: 10318933

Title: An imprinted, mammalian bicistronic transcript encodes two independent proteins.

PubMed ID: 10318933

DOI: 10.1073/pnas.96.10.5616

PubMed ID: 15955813

Title: Tudor domains bind symmetrical dimethylated arginines.

PubMed ID: 15955813

DOI: 10.1074/jbc.m414328200

PubMed ID: 24129315

Title: Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.

PubMed ID: 24129315

DOI: 10.1074/mcp.o113.027870

Sequence Information:

  • Length: 240
  • Mass: 24614
  • Checksum: 9A176D043561474C
  • Sequence:
    • MTVGKSSKML QHIDYRMRCI LQDGRIFIGT FKAFDKHMNL ILCDCDEFRK IKPKNAKQPE 
REEKRVLGLV LLRGENLVSM TVEGPPPKDT GIARVPLAGA AGGPGVGRAA GRGVPAGVPI 
PQAPAGLAGP VRGVGGPSQQ VMTPQGRGTV AAAAVAATAS IAGAPTQYPP GRGTPPPPVG 
RATPPPGIMA PPPGMRPPMG PPIGLPPARG TPIGMPPPGM RPPPPGIRGP PPPGMRPPRP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.