TARDBP is a human gene. Variants in TARDBP have been implicated in Amyotrophic Lateral Sclerosis (ALS), Frontotemporal Dementia (FTD), Cancer. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration.
Gene Symbol: SNRPA1
Also Known As: U2A', U2-snRNP-specific protein A
Gene ID (NCBI): 6627
Chromosomal Location: 15q26.3
Gene Overview
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SNRPA1 — Small Nuclear Ribonucleoprotein Polypeptide A1
TARDBP is a human gene. Variants in TARDBP have been implicated in Amyotrophic Lateral Sclerosis (ALS), Frontotemporal Dementia (FTD), Cancer. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration.
Gene Symbol: SNRPA1
Also Known As: U2A', U2-snRNP-specific protein A
Gene ID (NCBI): 6627
Chromosomal Location: 15q26.3
Gene Overview
SNRPA1 (Small Nuclear Ribonucleoprotein Polypeptide A1) is a component of the U2 small nuclear ribonucleoprotein (snRNP) involved in pre-mRNA splicing. It is also known as U2A' and plays a critical role in the assembly and function of the U2 snRNP, which is essential for the spliceosome's recognition of the branch point site during splicing [1][2]. Mutations in splicing factors including SNRPA1 have been implicated in neurodegenerative diseases, particularly amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) [3].
Protein Structure and Function
SNRPA1 is a 255-amino acid protein that:
Binds to U2 snRNA as part of the U2 snRNP complex
Interacts with U2AF (U2 small nuclear RNA auxiliary factor)
Plays a structural role in stabilizing the U2 snRNP on the pre-mRNA
Role in the Spliceosome
The spliceosome undergoes complex assembly:
E complex: U1 snRNP binds 5' splice site
A complex: U2 snRNP (including SNRPA1) binds branch point site
B complex: U4/U6.U5 tri-snRNP joins
C complex: Catalytic steps occur
SNRPA1 stabilizes U2 snRNP binding through protein-protein interactions.
Expression Pattern
SNRPA1 is expressed in:
Brain: Throughout [cortex](/brain-regions/cortex), [hippocampus](/brain-regions/hippocampus), cerebellum, brainstem
Peripheral tissues: Ubiquitous, high in proliferating cells
Cell types: [Neurons](/entities/neurons), glial cells, all cell types
Disease Associations
Amyotrophic Lateral Sclerosis (ALS)
Splicing dysregulation is a hallmark of ALS:
Mutations in splicing factors ([TDP-43](/mechanisms/tdp-43-proteinopathy), FUS,hnRNPA1) cause familial ALS
SNRPA1 expression altered in sporadic ALS
Aberrant splicing of survival motor neuron (SMN) transcripts
Frontotemporal Dementia (FTD)
TDP-43 pathology affects splicing regulation
Similar splicing defects as ALS (ALS-FTD spectrum)