SnRNP70

snRNP70 also known as U1 small nuclear ribonucleoprotein 70 kDa is a protein^[5] that in humans is encoded by the SNRNP70 gene.^[6][7] snRNP70 is a small nuclear ribonucleoprotein that associates with U1 spliceosomal RNA, forming the U1snRNP a core component of the spliceosome. The U1-70K protein and other components of the spliceosome complex form detergent-insoluble aggregates in both sporadic and familial human cases of Alzheimer's disease.^[8][9] U1-70K co-localizes with Tau in neurofibrillary tangles in Alzheimer's disease.

SNRNP70
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2L5I, 2L5J, 3CW1, 3PGW, 4PJO, 4PKD
Identifiers
Aliases	SNRNP70, RNPU1Z, RPU1, SNRP70, Snp1, U1-70K, U170K, U1AP, U1RNP, SnRNP70, small nuclear ribonucleoprotein U1 subunit 70
External IDs	OMIM: 180740; MGI: 98341; HomoloGene: 20672; GeneCards: SNRNP70; OMA:SNRNP70 - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.33 Start 49,085,419 bp[1] End 49,108,605 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 B3|7 29.28 cM Start 45,025,877 bp[2] End 45,045,166 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum sural nerve right uterine tube right lobe of thyroid gland left ovary body of uterus right ovary left lobe of thyroid gland canal of the cervix body of pancreas Top expressed in neural layer of retina genital tubercle tail of embryo primary visual cortex superior frontal gyrus ventricular zone yolk sac dentate gyrus of hippocampal formation granule cell lip epiblast More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding nucleic acid binding mRNA binding U1 snRNP binding U1 snRNA binding RNA binding Cellular component nuclear speck nucleoplasm precatalytic spliceosome spliceosomal complex commitment complex U2-type prespliceosome nucleus U1 snRNP cytoplasm Biological process mRNA splicing, via spliceosome positive regulation of mRNA splicing, via spliceosome mRNA processing negative regulation of chaperone-mediated autophagy regulation of RNA splicing RNA splicing regulation of ATP-dependent activity negative regulation of protein refolding cellular response to tumor necrosis factor cellular response to retinoic acid cellular response to transforming growth factor beta stimulus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6625 20637 Ensembl ENSG00000104852 ENSMUSG00000063511 UniProt P08621 Q62376 RefSeq (mRNA) NM_001009820 NM_001301069 NM_003089 NM_009224 RefSeq (protein) NP_001287998 NP_003080 NP_033250 Location (UCSC) Chr 19: 49.09 – 49.11 Mb Chr 7: 45.03 – 45.05 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Interactions

snRNP70 has been shown to interact with ASF/SF2,^[10][11] SRPK1,^[12][13] and ZRANB2.^[14]

Role in autoimmunity

Antibodies towards snRNP70 are associated with mixed connective tissue disease.^[15]