Gene Gene information from NCBI Gene database.
Entrez ID 6631
Gene name Small nuclear ribonucleoprotein polypeptide C
Gene symbol SNRPC
Synonyms (NCBI Gene)
U1CYhc1
Chromosome 6
Chromosome location 6p21.31
Summary 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 splici
miRNA miRNA information provided by mirtarbase database.
179
miRTarBase ID miRNA Experiments Reference
MIRT023480 hsa-miR-23b-3p Sequencing 20371350
MIRT027399 hsa-miR-98-5p Microarray 19088304
MIRT028793 hsa-miR-26b-5p Microarray 19088304
MIRT031425 hsa-miR-16-5p Microarray 21199864
MIRT052477 hsa-let-7a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0000243 Component Commitment complex IEA
GO:0000387 Process Spliceosomal snRNP assembly IDA 8972845
GO:0000387 Process Spliceosomal snRNP assembly IEA
GO:0000395 Process MRNA 5'-splice site recognition IBA
GO:0000395 Process MRNA 5'-splice site recognition IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603522 11157 ENSG00000124562
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P09234
Protein name U1 small nuclear ribonucleoprotein C (U1 snRNP C) (U1-C) (U1C)
Protein 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
PDB 2VRD , 3CW1 , 4PJO , 6ELD , 6QX9 , 7VPX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06220 zf-U1 1 38 U1 zinc finger Domain
Sequence
MPKFYCDYCDTYLTHDSPSVRKTHCSGRKHKENVKDYYQKWMEEQAQSLIDKTTAAFQQG
KIPPTPFSAPPPAGAMIPPPPSLPGPPRPGMMPAPHMGGPPMMPMMGPPPPGMMPVGPAP
GMRPPMGGHMPMMPGPPMMRPPARPMMVPTRPGMTRPDR
Sequence length 159
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spliceosome   mRNA Splicing - Major Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CELIAC DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Carcinoma Hepatocellular Associate 33934562
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Stimulate 34389000
★☆☆☆☆
Found in Text Mining only
Immune System Diseases Associate 34389000
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus Systemic Associate 27353506
★☆☆☆☆
Found in Text Mining only
Mixed Connective Tissue Disease Associate 27353506
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neoplasms Stimulate 33934562
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Associate 34793589
★☆☆☆☆
Found in Text Mining only