SNRPC small nuclear ribonucleoprotein polypeptide C [Homo sapiens (human)] - Gene

Summary

Official Symbol: SNRPCprovided by HGNC
Official Full Name: small nuclear ribonucleoprotein polypeptide Cprovided by HGNC
Primary source: HGNC:HGNC:11157
See related: Ensembl:ENSG00000124562 MIM:603522; AllianceGenome:HGNC:11157
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: U1C; Yhc1
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 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]
Expression: Ubiquitous expression in testis (RPKM 34.9), bone marrow (RPKM 32.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.31

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (34757505..34773857)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (34580289..34596650)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (34725282..34741634)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SNRPC promotes hepatocellular carcinoma cell motility by inducing epithelial-mesenchymal transition.
Title: SNRPC promotes hepatocellular carcinoma cell motility by inducing epithelial-mesenchymal transition.
these studies establish potentially converging disease mechanisms in amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy, with ALS-causative mutants acquiring properties representing both gain and loss of function.
Title: ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP.
binding of TIA-1 in the vicinity of a 5' ss helps to stabilize U1 snRNP recruitment, at least in part, via a direct interaction with U1-C
Title: The splicing regulator TIA-1 interacts with U1-C to promote U1 snRNP recruitment to 5' splice sites.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of small nuclear ribonucleoprotein polypeptide C (SNRPC) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, small nuclear ribonucleoprotein polypeptide C (SNRPC), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G06174 (e-PCR)
- UniSTS:63497

STS-X12517 (e-PCR)
- UniSTS:54309

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
NOT enables U1 snRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables mRNA binding	IEA Inferred from Electronic Annotation more info
enables pre-mRNA 5'-splice site binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in mRNA 5'-splice site recognition	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA splicing, via spliceosome	NAS Non-traceable Author Statement more info	PubMed
involved_in spliceosomal snRNP assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Cajal body	IDA Inferred from Direct Assay more info	PubMed
part_of U1 snRNP	IBA Inferred from Biological aspect of Ancestor more info
part_of U1 snRNP	IDA Inferred from Direct Assay more info	PubMed
part_of U1 snRNP	IPI Inferred from Physical Interaction more info	PubMed
part_of U2-type prespliceosome	IEA Inferred from Electronic Annotation more info
part_of commitment complex	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
part_of spliceosomal complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: U1 small nuclear ribonucleoprotein C

Names: U1 small nuclear RNP specific C; U1 snRNP C; U1 snRNP protein C

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_003093.3 → NP_003084.1 U1 small nuclear ribonucleoprotein C

See identical proteins and their annotated locations for NP_003084.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript.

Source sequence(s)

AI356808, AK311955, BU153661, CD109745

Consensus CDS

CCDS34436.1

UniProtKB/Swiss-Prot

P09234, Q5TAL3

UniProtKB/TrEMBL

Q53G33, Q5TAL4

Related

ENSP00000244520.5, ENST00000244520.10

Conserved Domains (1) summary

pfam06220
Location:1 → 38

zf-U1; U1 zinc finger

RNA

NR_029472.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AI356808, AL139100, BU153661, BU508721, CD109745