Details for: SNRPN

Gene ID: 6638

Symbol: SNRPN

Ensembl ID: ENSG00000128739

Description: small nuclear ribonucleoprotein polypeptide N

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 427.2069
    Cell Significance Index: -66.4500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 247.6706
    Cell Significance Index: -62.8200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 148.9267
    Cell Significance Index: -61.3500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 132.4550
    Cell Significance Index: -62.5400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 120.2687
    Cell Significance Index: -48.8600
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 108.2457
    Cell Significance Index: -55.6800
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 93.3725
    Cell Significance Index: -62.6600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 55.4683
    Cell Significance Index: -68.3900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 51.9931
    Cell Significance Index: -49.6400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 23.6972
    Cell Significance Index: -72.7900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 21.2590
    Cell Significance Index: -56.9500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 17.6404
    Cell Significance Index: -69.6100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 9.0287
    Cell Significance Index: -19.7600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 7.0916
    Cell Significance Index: 372.3400
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 5.0770
    Cell Significance Index: 31.4100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 5.0004
    Cell Significance Index: 1003.0800
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 3.8551
    Cell Significance Index: 30.7800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 3.7534
    Cell Significance Index: 1346.2900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 3.5397
    Cell Significance Index: 93.0800
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 3.3112
    Cell Significance Index: 41.0700
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 3.2811
    Cell Significance Index: 25.2900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 2.8774
    Cell Significance Index: 108.9600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 2.6811
    Cell Significance Index: 118.5900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 2.5557
    Cell Significance Index: 55.9600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 2.2121
    Cell Significance Index: 398.7800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 2.2069
    Cell Significance Index: 60.0700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 2.0987
    Cell Significance Index: 258.0500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.9715
    Cell Significance Index: 18.1600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.9537
    Cell Significance Index: 67.8900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.6633
    Cell Significance Index: 127.6400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.5115
    Cell Significance Index: 112.6500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.4280
    Cell Significance Index: 183.0600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.0685
    Cell Significance Index: 49.8200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.9765
    Cell Significance Index: 134.1000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.8505
    Cell Significance Index: 44.3000
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.8354
    Cell Significance Index: 19.3000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.8257
    Cell Significance Index: 50.7500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.8054
    Cell Significance Index: 439.8600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.7810
    Cell Significance Index: 40.5700
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 0.7086
    Cell Significance Index: 9.1900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.6682
    Cell Significance Index: 43.1100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.6024
    Cell Significance Index: 12.6100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.5558
    Cell Significance Index: 35.0300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.5117
    Cell Significance Index: 34.4100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4717
    Cell Significance Index: 208.5600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.4079
    Cell Significance Index: 52.7000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3133
    Cell Significance Index: 59.6200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2784
    Cell Significance Index: 5.9300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.2193
    Cell Significance Index: 5.2600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.2005
    Cell Significance Index: 2.9600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1412
    Cell Significance Index: 2.4200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.1276
    Cell Significance Index: 3.6400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1170
    Cell Significance Index: 8.0900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.1151
    Cell Significance Index: 84.3900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1010
    Cell Significance Index: 9.9900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0546
    Cell Significance Index: 102.8700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0443
    Cell Significance Index: 5.2200
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.0425
    Cell Significance Index: 0.5300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0376
    Cell Significance Index: 28.4600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0110
    Cell Significance Index: 14.9400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0056
    Cell Significance Index: 8.5600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0027
    Cell Significance Index: 0.1300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0083
    Cell Significance Index: -15.2400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0395
    Cell Significance Index: -29.2900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0491
    Cell Significance Index: -31.2000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0552
    Cell Significance Index: -2.5000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0675
    Cell Significance Index: -30.6300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0711
    Cell Significance Index: -2.5000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0771
    Cell Significance Index: -2.2200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.0807
    Cell Significance Index: -13.1300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0857
    Cell Significance Index: -48.3300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.1207
    Cell Significance Index: -75.3900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1351
    Cell Significance Index: -23.0800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1369
    Cell Significance Index: -27.1700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1581
    Cell Significance Index: -16.1500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1763
    Cell Significance Index: -13.9600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1914
    Cell Significance Index: -55.0700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2800
    Cell Significance Index: -32.6400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2884
    Cell Significance Index: -8.4700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2903
    Cell Significance Index: -16.2900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.3190
    Cell Significance Index: -67.2000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.3314
    Cell Significance Index: -48.1800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3343
    Cell Significance Index: -38.3000
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.4025
    Cell Significance Index: -5.0800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.5089
    Cell Significance Index: -13.0000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.6022
    Cell Significance Index: -42.5900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.6363
    Cell Significance Index: -13.2000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.6377
    Cell Significance Index: -66.4000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.6543
    Cell Significance Index: -20.9600
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.6707
    Cell Significance Index: -8.5900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.6978
    Cell Significance Index: -19.5000
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.7354
    Cell Significance Index: -8.0000
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.7464
    Cell Significance Index: -8.4800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.7727
    Cell Significance Index: -11.0700
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.7775
    Cell Significance Index: -10.9100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.8205
    Cell Significance Index: -23.5200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.8369
    Cell Significance Index: -24.6500
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.8640
    Cell Significance Index: -10.3000
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -0.8786
    Cell Significance Index: -5.5000
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.9069
    Cell Significance Index: -5.9000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

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 Ensembl 8 ExpressionAtlas 1 GO 15 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 2 MANE-Select 1 MIM 1 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PIRSF 1 PRO 1 PROSITE 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 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.