snRNP70 also known as U1 small nuclear ribonucleoprotein 70 kDa is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...

that in humans is encoded by the ''SNRNP70''

gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...

. snRNP70 is a

small nuclear ribonucleoprotein snRNPs (pronounced "snurps"), or small nuclear ribonucleoproteins, are RNA-protein complexes that combine with unmodified pre-mRNA and various other proteins to form a spliceosome, a large RNA-protein molecular complex upon which splicing of pre- ...

that associates with

U1 spliceosomal RNA U1 spliceosomal RNA is the small nuclear RNA (snRNA) component of U1 snRNP (''small nuclear ribonucleoprotein''), an RNA-protein complex that combines with other snRNPs, unmodified pre-mRNA, and various other proteins to assemble a spliceosome, a ...

, forming the U1snRNP a core component of the

spliceosome A spliceosome is a large ribonucleoprotein (RNP) complex found primarily within the nucleus of eukaryotic cells. The spliceosome is assembled from small nuclear RNAs ( snRNA) and numerous proteins. Small nuclear RNA (snRNA) molecules bind to sp ...

. 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 Alzheimer's disease (AD) is a neurodegenerative disease and the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in remembering recent events. As the disease advances, symptoms can include problems wit ...

. U1-70K co-localizes with

Tau Tau (; uppercase Τ, lowercase τ or \boldsymbol\tau; ) is the nineteenth letter of the Greek alphabet, representing the voiceless alveolar plosive, voiceless dental or alveolar plosive . In the system of Greek numerals, it has a value of 300 ...

neurofibrillary tangle Neurofibrillary tangles (NFTs) are intracellular aggregates of hyperphosphorylated tau protein that are most commonly known as a primary Biomarker (medicine), biomarker of Alzheimer's disease. Their presence is also found in numerous other disea ...

s in

Interactions

snRNP70 has been shown to

interact Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization advocating for the legal and human rights of children with intersex traits. The organization was founded in 2006 and fo ...

with

ASF/SF2 Serine/arginine-rich splicing factor 1 (SRSF1) also known as alternative splicing factor 1 (ASF1), pre-mRNA-splicing factor SF2 (SF2) or ASF1/SF2 is a protein that in humans is encoded by the ''SRSF1'' gene. ASF/SF2 is an essential sequence specif ...

SRPK1 Serine/arginine-Rich Splicing Factor (SRSF) protein kinase-1 SRPK1 is an enzyme that in humans is encoded by the ''SRPK1'' gene. Function This gene encodes a serine/arginine protein kinase specific for the SR (serine/arginine-rich domain) fam ...

, and

ZRANB2 Zinc finger Ran-binding domain-containing protein 2 is a protein that in humans is encoded by the ''ZRANB2'' gene. Interactions ZRANB2 has been shown to interact with U2 small nuclear RNA auxiliary factor 1 Splicing factor U2AF 35 kDa subu ...

Role in autoimmunity

Antibodies towards snRNP70 are associated with

mixed connective tissue disease Mixed connective tissue disease (MCTD) is a systemic autoimmune disease that shares characteristics with at least two other systemic autoimmune diseases, including Systemic scleroderma, systemic sclerosis (Ssc), systemic lupus erythematosus (SLE),� ...

Interactions

Role in autoimmunity

References

Further reading