Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6626
Gene name	Small nuclear ribonucleoprotein polypeptide A
Gene symbol	SNRPA
Synonyms (NCBI Gene)	Mud1U1-AU1A
Chromosome	19
Chromosome location	19q13.2
Summary	The protein encoded by this gene associates with stem loop II of the U1 small nuclear ribonucleoprotein, which binds the 5` splice site of precursor mRNAs and is required for splicing. The encoded protein autoregulates itself by polyadenylation inhibition

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1555775208	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555775209	T>A	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (45)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052317	hsa-let-7b-5p	CLASH	23622248
MIRT036163	hsa-miR-320c	CLASH	23622248
MIRT035815	hsa-miR-1307-3p	CLASH	23622248
MIRT1376078	hsa-miR-1180	CLIP-seq
MIRT1376079	hsa-miR-3153	CLIP-seq
MIRT1376080	hsa-miR-3179	CLIP-seq
MIRT1376081	hsa-miR-3202	CLIP-seq
MIRT1376082	hsa-miR-3613-3p	CLIP-seq
MIRT1376083	hsa-miR-3622b-5p	CLIP-seq
MIRT1376084	hsa-miR-371b-5p	CLIP-seq
MIRT1376085	hsa-miR-3936	CLIP-seq
MIRT1376086	hsa-miR-4271	CLIP-seq
MIRT1376087	hsa-miR-4651	CLIP-seq
MIRT1376088	hsa-miR-4668-5p	CLIP-seq
MIRT1376089	hsa-miR-4688	CLIP-seq
MIRT1376090	hsa-miR-4716-3p	CLIP-seq
MIRT1376091	hsa-miR-4725-3p	CLIP-seq
MIRT1376092	hsa-miR-4747-5p	CLIP-seq
MIRT1376093	hsa-miR-4773	CLIP-seq
MIRT1376094	hsa-miR-486-3p	CLIP-seq
MIRT1376095	hsa-miR-608	CLIP-seq
MIRT1376096	hsa-miR-625	CLIP-seq
MIRT1376097	hsa-miR-663b	CLIP-seq
MIRT2629144	hsa-miR-3127-5p	CLIP-seq
MIRT2629145	hsa-miR-377	CLIP-seq
MIRT2629146	hsa-miR-4493	CLIP-seq
MIRT2629147	hsa-miR-4652-5p	CLIP-seq
MIRT2629148	hsa-miR-4656	CLIP-seq
MIRT2629149	hsa-miR-4663	CLIP-seq
MIRT2629150	hsa-miR-4724-3p	CLIP-seq
MIRT2629144	hsa-miR-3127-5p	CLIP-seq
MIRT1376079	hsa-miR-3153	CLIP-seq
MIRT2629145	hsa-miR-377	CLIP-seq
MIRT1376085	hsa-miR-3936	CLIP-seq
MIRT2629146	hsa-miR-4493	CLIP-seq
MIRT1376087	hsa-miR-4651	CLIP-seq
MIRT2629147	hsa-miR-4652-5p	CLIP-seq
MIRT2629148	hsa-miR-4656	CLIP-seq
MIRT2629149	hsa-miR-4663	CLIP-seq
MIRT1376090	hsa-miR-4716-3p	CLIP-seq
MIRT2629150	hsa-miR-4724-3p	CLIP-seq
MIRT1376093	hsa-miR-4773	CLIP-seq
MIRT1376095	hsa-miR-608	CLIP-seq
MIRT1376096	hsa-miR-625	CLIP-seq
MIRT1376097	hsa-miR-663b	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IC	9731529
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	30975767, 33677607
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	EXP	8609632
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IDA	19561594
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	9848648, 10688667, 12486009, 15105431, 16189514, 22365833, 23793891, 25416956, 29892012, 30021884, 30886144, 31515488, 32296183, 35271311, 39251607
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	21113136, 30975767
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IDA	9731529
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	IPI	30975767, 33677607
GO:0005685	Component	U1 snRNP	IBA
GO:0005685	Component	U1 snRNP	IDA	21113136, 23793891
GO:0005685	Component	U1 snRNP	IEA
GO:0005685	Component	U1 snRNP	IPI	33677607
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0030619	Function	U1 snRNA binding	IBA
GO:0030619	Function	U1 snRNA binding	IDA	2147232
GO:0042802	Function	Identical protein binding	IPI	16189514, 25416956, 31515488, 32296183
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IPI	30975767
GO:0097525	Component	Spliceosomal snRNP complex	IEA
GO:1990446	Function	U1 snRNP binding	IEA
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
182285	11151	ENSG00000077312

P09012

Protein name

U1 small nuclear ribonucleoprotein A (U1 snRNP A) (U1-A) (U1A)

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. U1 snRNP is the first snRNP to interact with pre-mRNA. This interaction is required for the

PDB

1AUD , 1DRZ , 1DZ5 , 1FHT , 1M5K , 1M5O , 1M5P , 1M5V , 1NU4 , 1OIA , 1SJ3 , 1SJ4 , 1SJF , 1U6B , 1URN , 1VBX , 1VBY , 1VBZ , 1VC0 , 1VC5 , 1VC6 , 1ZZN , 2A3J , 2NZ4 , 2OIH , 2OJ3 , 2U1A , 3BO2 , 3BO3 , 3BO4 , 3CUL , 3CUN , 3EGZ , 3G8S , 3G8T , 3G96 , 3G9C , 3HHN , 3IIN , 3IRW , 3IWN , 3K0J , 3L3C , 3MUM , 3MUR , 3MUT , 3MUV , 3MXH , 3P49 , 3PGW , 3R1H

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00076	RRM_1	12 → 83	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
PF00076	RRM_1	210 → 275	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain

Sequence

MAVPETRPNHTIYINNLNEKIKKDELKKSLYAIFSQFGQILDILVSRSLKMRGQAFVIFK
EVSSATNALRSMQGFPFYDKPMRIQYAKTDSDIIAKMKGTFVERDRKREKRKPKSQETPA
TKKAVQGGGATPVVGAVQGPVPGMPPMTQAPRIMHHMPGQPPYMPPPGMIPPPGLAPGQI
PPGAMPPQQLMPGQMPPAQPLSENPPNHILFLTNLPEETNELMLSMLFNQFPGFKEVRLV
PGRHDIAFVEFDNEVQAGAARDALQGFKITQNNAMKISFAKK

Sequence length

282

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		mRNA Splicing - Major Pathway

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spliceosomepathy	Likely pathogenic	rs1555775209, rs1555775208	RCV000515464 RCV000515471	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SNRPA-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	27718298	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21677381	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	10352263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	29437235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17786358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	14988508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	27353506	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	14988508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	14988508, 7930595, 9342149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	14988508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30039889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	33417721	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mixed Connective Tissue Disease	Mixed connective tissue disease	Pubtator	27353506	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30039889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	14988508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30039889		★★★★★ ★☆☆☆☆ Found in Text Mining only

SNRPA (small nuclear ribonucleoprotein polypeptide A)