This gene encodes one of the specific protein components of the U1 small nuclear ribonucleoprotein (snRNP) particle required for the formation of the spliceosome. The encoded protein participates in the processing of nuclear precursor messenger RNA splicing. snRNP particles are attacked by autoantibodies frequently produced by patients with connective tissue diseases. The genom... See more...

Aliases for SNRPC Gene

Aliases for SNRPC Gene

  • Small Nuclear Ribonucleoprotein Polypeptide C 2 3 5
  • U1 Small Nuclear Ribonucleoprotein C 3 4
  • U1 SnRNP C 3 4
  • Yhc1 2 3
  • U1-C 2 4
  • U1C 3 4
  • U1 Small Nuclear RNP Specific C 3
  • U1 SnRNP Protein C 3
  • SNRPC 5

External Ids for SNRPC Gene

Previous GeneCards Identifiers for SNRPC Gene

  • GC06P034727
  • GC06P034772
  • GC06P034833
  • GC06P034725
  • GC06P034447
  • GC06P034826
  • GC06P035771
  • GC06P036301
  • GC06P037287
  • GC06P034928
  • GC06P035510
  • GC06P042768
  • GC06P043102
  • GC06P043325
  • GC06P046024
  • GC06P037746
  • GC06P038320
  • GC06P038960
  • GC06P039548
  • GC06P040108
  • GC06P041171
  • GC06P041853
  • GC06P042502
  • GC06P047428

Summaries for SNRPC Gene

Entrez Gene Summary for SNRPC Gene

  • This gene encodes one of the specific protein components of the U1 small nuclear ribonucleoprotein (snRNP) particle required for the formation of the spliceosome. The encoded protein participates in the processing of nuclear precursor messenger RNA splicing. snRNP particles are attacked by autoantibodies frequently produced by patients with connective tissue diseases. The genome contains several pseudogenes of this functional gene. Alternative splicing results in a non-coding transcript variant.[provided by RefSeq, Oct 2009]

GeneCards Summary for SNRPC Gene

SNRPC (Small Nuclear Ribonucleoprotein Polypeptide C) is a Protein Coding gene. Diseases associated with SNRPC include Autoimmune Disease and Atrial Septal Defect 2. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and protein homodimerization activity.

UniProtKB/Swiss-Prot Summary for SNRPC Gene

  • Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome. SNRPC/U1-C is directly involved in initial 5' splice-site recognition for both constitutive and regulated alternative splicing. The interaction with the 5' splice-site seems to precede base-pairing between the pre-mRNA and the U1 snRNA. Stimulates commitment or early (E) complex formation by stabilizing the base pairing of the 5' end of the U1 snRNA and the 5' splice-site region.

Gene Wiki entry for SNRPC Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SNRPC Gene

Genomics for SNRPC Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SNRPC Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SNRPC on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SNRPC

Top Transcription factor binding sites by QIAGEN in the SNRPC gene promoter:
  • c-Myb
  • CP2
  • Evi-1
  • FOXC1
  • LCR-F1
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2
  • YY1

Genomic Locations for SNRPC Gene

Latest Assembly
chr6:34,757,505-34,773,857
(GRCh38/hg38)
Size:
16,353 bases
Orientation:
Plus strand

Previous Assembly
chr6:34,725,282-34,741,634
(GRCh37/hg19 by Entrez Gene)
Size:
16,353 bases
Orientation:
Plus strand

chr6:34,725,183-34,741,571
(GRCh37/hg19 by Ensembl)
Size:
16,389 bases
Orientation:
Plus strand

Genomic View for SNRPC Gene

Genes around SNRPC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNRPC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNRPC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNRPC Gene

Proteins for SNRPC Gene

  • Protein details for SNRPC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09234-RU1C_HUMAN
    Recommended name:
    U1 small nuclear ribonucleoprotein C
    Protein Accession:
    P09234
    Secondary Accessions:
    • Q5TAL3

    Protein attributes for SNRPC Gene

    Size:
    159 amino acids
    Molecular mass:
    17394 Da
    Quaternary structure:
    • Component of the U1 snRNP (PubMed:2136774). The U1 snRNP is composed of the U1 snRNA and the 7 core Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP, and at least 3 U1 snRNP-specific proteins SNRNP70/U1-70K, SNRPA/U1-A and SNRPC/U1-C. SNRPC/U1-C interacts with U1 snRNA and the 5' splice-site region of the pre-mRNA.

    Three dimensional structures from OCA and Proteopedia for SNRPC Gene

neXtProt entry for SNRPC Gene

Post-translational modifications for SNRPC Gene

  • Ubiquitination at Lys3, Lys40, and Lys52
  • Modification sites at PhosphoSitePlus

Other Protein References for SNRPC Gene

No data available for DME Specific Peptides for SNRPC Gene

Domains & Families for SNRPC Gene

Gene Families for SNRPC Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SNRPC Gene

Suggested Antigen Peptide Sequences for SNRPC Gene

GenScript: Design optimal peptide antigens:
  • U1 small nuclear ribonucleoprotein C (Q5TAL3_HUMAN)
  • U1 small nuclear ribonucleoprotein C (Q5TAL4_HUMAN)
  • U1 small nuclear ribonucleoprotein C (RU1C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P09234

UniProtKB/Swiss-Prot:

RU1C_HUMAN :
  • Belongs to the U1 small nuclear ribonucleoprotein C family.
Family:
  • Belongs to the U1 small nuclear ribonucleoprotein C family.
genes like me logo Genes that share domains with SNRPC: view

Function for SNRPC Gene

Molecular function for SNRPC Gene

UniProtKB/Swiss-Prot Function:
Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome. SNRPC/U1-C is directly involved in initial 5' splice-site recognition for both constitutive and regulated alternative splicing. The interaction with the 5' splice-site seems to precede base-pairing between the pre-mRNA and the U1 snRNA. Stimulates commitment or early (E) complex formation by stabilizing the base pairing of the 5' end of the U1 snRNA and the 5' splice-site region.

Phenotypes From GWAS Catalog for SNRPC Gene

Gene Ontology (GO) - Molecular Function for SNRPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,HDA 22681889
GO:0003727 single-stranded RNA binding IDA 8798632
GO:0003729 mRNA binding IEA --
GO:0005515 protein binding IPI 8076607
genes like me logo Genes that share ontologies with SNRPC: view
genes like me logo Genes that share phenotypes with SNRPC: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNRPC

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SNRPC Gene

Localization for SNRPC Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNRPC Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SNRPC gene
Compartment Confidence
nucleus 5
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SNRPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000243 commitment complex IEA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005685 U1 snRNP IEA,IDA 15312772
GO:0015030 Cajal body IDA 10068039
genes like me logo Genes that share ontologies with SNRPC: view

Pathways & Interactions for SNRPC Gene

genes like me logo Genes that share pathways with SNRPC: view

Pathways by source for SNRPC Gene

Gene Ontology (GO) - Biological Process for SNRPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000387 spliceosomal snRNP assembly IEA,IDA 8972845
GO:0000395 mRNA 5'-splice site recognition IEA,IBA 21873635
GO:0000398 mRNA splicing, via spliceosome IEA,TAS --
genes like me logo Genes that share ontologies with SNRPC: view

No data available for SIGNOR curated interactions for SNRPC Gene

Drugs & Compounds for SNRPC Gene

(1) Drugs for SNRPC Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SNRPC: view

Transcripts for SNRPC Gene

mRNA/cDNA for SNRPC Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNRPC

Alternative Splicing Database (ASD) splice patterns (SP) for SNRPC Gene

No ASD Table

Relevant External Links for SNRPC Gene

GeneLoc Exon Structure for
SNRPC

Expression for SNRPC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SNRPC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SNRPC Gene

This gene is overexpressed in Fetal Brain (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SNRPC Gene



Protein tissue co-expression partners for SNRPC Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SNRPC

SOURCE GeneReport for Unigene cluster for SNRPC Gene:

Hs.1063

Evidence on tissue expression from TISSUES for SNRPC Gene

  • Liver(4.8)
  • Nervous system(3.3)
  • Lung(2.8)
  • Pancreas(2.7)
  • Skin(2.6)
  • Muscle(2.4)
  • Heart(2.2)
  • Kidney(2.2)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with SNRPC: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SNRPC Gene

Orthologs for SNRPC Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SNRPC Gene

Organism Taxonomy Gene Similarity Type Details
Cow
(Bos Taurus)
Mammalia SNRPC 31
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia SNRPC 30 31
  • 99.58 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Snrpc 31
  • 99 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 99 (a)
OneToMany
SNRPC 31
  • 87 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia LOC102153257 30
  • 96.23 (n)
SNRPC 31
  • 96 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SNRPC 31
  • 95 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC685273 30
  • 90.15 (n)
Chicken
(Gallus gallus)
Aves SNRPC 31
  • 98 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SNRPC 31
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.1158 30
Zebrafish
(Danio rerio)
Actinopterygii snrpc 30 31
  • 83 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta snRNP-U1-C 31
  • 59 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F08B4.7 31
  • 53 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YHC1 33
Rice
(Oryza sativa)
Liliopsida Os.5630 30
Wheat
(Triticum aestivum)
Liliopsida Ta.13756 30
Corn
(Zea mays)
Liliopsida Zm.5207 30
Species where no ortholog for SNRPC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)

Evolution for SNRPC Gene

ENSEMBL:
Gene Tree for SNRPC (if available)
TreeFam:
Gene Tree for SNRPC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SNRPC: view image

Paralogs for SNRPC Gene

genes like me logo Genes that share paralogs with SNRPC: view

No data available for Paralogs for SNRPC Gene

Variants for SNRPC Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SNRPC Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SNRPC Gene

Variant ID Type Subtype PubMed ID
dgv5955n100 CNV gain 25217958
esv2763967 CNV gain 21179565
nsv462905 CNV gain 19166990
nsv602906 CNV gain 21841781
nsv965714 CNV duplication 23825009

Variation tolerance for SNRPC Gene

Residual Variation Intolerance Score: 44.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.92; 87.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SNRPC Gene

Human Gene Mutation Database (HGMD)
SNRPC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNRPC

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SNRPC Gene

Disorders for SNRPC Gene

MalaCards: The human disease database

(2) MalaCards diseases for SNRPC Gene - From: COP and GCD

Disorder Aliases PubMed IDs
autoimmune disease
  • autoimmune hypersensitivity disease
atrial septal defect 2
  • asd2
- elite association - COSMIC cancer census association via MalaCards
Search SNRPC in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SNRPC

genes like me logo Genes that share disorders with SNRPC: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SNRPC Gene

Publications for SNRPC Gene

  1. Protein stoichiometry of a multiprotein complex, the human spliceosomal U1 small nuclear ribonucleoprotein: absolute quantification using isotope-coded tags and mass spectrometry. (PMID: 15525645) Hochleitner EO … Lottspeich F (The Journal of biological chemistry 2005) 3 4 23
  2. The structure and biochemical properties of the human spliceosomal protein U1C. (PMID: 15312772) Muto Y … Nagai K (Journal of molecular biology 2004) 3 4 23
  3. Involvement of U1 small nuclear ribonucleoproteins (snRNP) in 5' splice site-U1 snRNP interaction. (PMID: 8798632) Rossi F … Cathala G (The Journal of biological chemistry 1996) 3 4 23
  4. Homodimerization of the human U1 snRNP-specific protein C. (PMID: 8532530) Gunnewiek JM … Nelissen RL (Nucleic acids research 1995) 2 3 23
  5. Zinc finger-like structure in U1-specific protein C is essential for specific binding to U1 snRNP. (PMID: 1826349) Nelissen RL … van Venrooij WJ (Nucleic acids research 1991) 3 4 23

Products for SNRPC Gene

Sources for SNRPC Gene