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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SNRPA Gene

protein-coding GIFtS: 61
GCID: GC19P041256

Small Nuclear Ribonucleoprotein Polypeptide A

7 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Small Nuclear Ribonucleoprotein Polypeptide A¹ ²		Mud1²
U1-A² ³		U1 Small Nuclear Ribonucleoprotein A²
U1A² ³		U1 Small Nuclear RNP-Specific A²
U1 SnRNP A² ³		U1 SnRNP-Specific Protein A²

External Ids:	HGNC: 11151¹	Entrez Gene: 6626²	Ensembl: ENSG00000077312⁷	OMIM: 182285⁵	UniProtKB: P09012³

Export aliases for SNRPA gene to outside databases

Previous GC identifers: GC19P041896 GC19P041648 GC19P045932 GC19P045948 GC19P037690

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SNRPA Gene:

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 of its own pre-mRNA via dimerization and has been implicated in the coupling of splicing

and polyadenylation. (provided by RefSeq, Oct 2010)

GeneCards Summary for SNRPA Gene:

SNRPA (small nuclear ribonucleoprotein polypeptide A) is a protein-coding gene. Diseases associated with SNRPA include mixed connective tissue disease, and yellow fever, and among its related super-pathways are mRNA Processing and Generic Transcription Pathway. GO annotations related to this gene include RNA binding and snRNA binding. An important paralog of this gene is SNRPB2.

UniProtKB/Swiss-Prot: SNRPA_HUMAN, P09012

Function: Binds stem loop II of U1 snRNA. It is the first snRNP to interact with pre-mRNA. This interaction is required

for the subsequent binding of U2 snRNP and the U4/U6/U5 tri-snRNP. In a snRNP-free form (SF-A) may be involved in

coupled pre-mRNA splicing and polyadenylation process. Binds preferentially to the 5'-UGCAC-3' motif in vitro

Gene Wiki entry for SNRPA (Small nuclear ribonucleoprotein polypeptide A) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NT_011109.16 NC_018930.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SNRPA gene promoter:
SRF STAT1 SRF (504 AA) ATF-2 STAT1beta STAT1alpha Max c-Jun Ik-1 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SNRPA promoter sequence

Search SABiosciences Chromatin IP Primers for SNRPA

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SNRPA

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.1 Ensembl cytogenetic band: 19q13.2 HGNC cytogenetic band: 19q13.1

SNRPA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNRPA gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P041256: view genomic region (about GC identifiers)

Start:	41,256,542 bp from pter	End:	41,271,297 bp from pter
Size:	14,756 bases	Orientation:	plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SNRPA_HUMAN, P09012 (See protein sequence)

Recommended Name: U1 small nuclear ribonucleoprotein A

Size: 282 amino acids; 31280 Da

Subunit: Belongs to the spliceosome where it is associated with snRNP U1. Interacts with SFPQ. Also component of a

snRNP-free complex with SFPQ

Subcellular location: Nucleus

6/59 PDB 3D structures from and Proteopedia for SNRPA (see all 59):

1AUD (3D)

1CX0 (3D)

1DRZ (3D)

1DZ5 (3D)

1FHT (3D)

1M5K (3D)

Explore the universe of human proteins at neXtProt for SNRPA: NX_P09012

Explore proteomics data for SNRPA at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P09012

SNRPA Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_004587.1

ENSEMBL proteins:

ENSP00000470534 ENSP00000243563 ENSP00000469224 ENSP00000472449 ENSP00000472258

ENSP00000472355 ENSP00000471230

Reactome Protein details: P09012
Human Recombinant Protein Products for SNRPA:

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	Novus Biologicals SNRPA Protein Novus Biologicals SNRPA Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for SNRPA

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005654	nucleoplasm	TAS	--
GO:0005681	spliceosomal complex	IDA	9731529

SNRPA for ontologies About GeneDecksing

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

RBM: RNA binding motif (RRM) containing

3 InterPro protein domains:

IPR024888 U1_snRNP_A/U2_snRNP_B''

IPR000504 RRM_dom

IPR012677 Nucleotide-bd_a/b_plait

Graphical View of Domain Structure for InterPro Entry P09012

ProtoNet protein and cluster: P09012

1 Blocks protein domain: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

UniProtKB/Swiss-Prot: SNRPA_HUMAN, P09012

Similarity: Belongs to the RRM U1 A/B'' family

Similarity: Contains 2 RRM (RNA recognition motif) domains

SNRPA for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: SNRPA_HUMAN, P09012

Function: Binds stem loop II of U1 snRNA. It is the first snRNP to interact with pre-mRNA. This interaction is required

for the subsequent binding of U2 snRNP and the U4/U6/U5 tri-snRNP. In a snRNP-free form (SF-A) may be involved in

coupled pre-mRNA splicing and polyadenylation process. Binds preferentially to the 5'-UGCAC-3' motif in vitro

Genatlas biochemistry entry for SNRPA:

samll ribonucleoprotein U1,A polypeptide

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003676	nucleic acid binding	--	--
GO:0003723	RNA binding	IDA	19561594
GO:0005515	protein binding	IPI	10688667
GO:0017069	snRNA binding	IEA	--

SNRPA for ontologies About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Custom generated mouse model solutions for SNRPA

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SNRPA

miRNA Products:
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		5 QIAGEN miScript miRNA Assays for microRNAs that regulate SNRPA:
		hsa-miR-644 hsa-miR-1231 hsa-miR-654-3p hsa-miR-106a* hsa-miR-764
		SwitchGear 3'UTR luciferase reporter plasmid: SNRPA 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		OriGene clones in human, mouse for SNRPA (see all 8) OriGene ORF clones in mouse, rat for SNRPA OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: SNRPA (NM_004596)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNRPA
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNRPA

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNRPA

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for SNRPA About

See pathways by source

SuperPath

Contained pathways About

mRNA Splicing - Major Pathway

Processing of Capped Intron-Containing Pre-mRNA	0.85	mRNA Splicing	0.82
mRNA Processing	0.85	mRNA processing	0.46
mRNA Splicing - Major Pathway	0.82	Spliceosome	0.31

Generic Transcription Pathway

Gene Expression

0.47

Pathways by source See SuperPaths
Show all pathways

1 BioSystems Pathway for SNRPA

mRNA processing

5 Reactome Pathways for SNRPA

	mRNA Splicing - Major Pathway
	mRNA Splicing
	Gene Expression
	mRNA Processing
	Processing of Capped Intron-Containing Pre-mRNA

1 Kegg Pathway (Kegg details for SNRPA):

Spliceosome

SNRPA for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SNRPA

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/644 Interacting proteins for SNRPA (P09012^{1, 2, 3} ENSP00000243563⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 644)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMN2	Q16637²^,³, ENSP00000370119⁴	MINT-14308 MINT-7947479 I2D: score=1 STRING: ENSP00000370119
PTBP1	P26599²^,³, ENSP00000349428⁴	MINT-8332987 MINT-7947479 I2D: score=3 STRING: ENSP00000349428
SF3A2	Q15428²^,³, ENSP00000221494⁴	MINT-5205386 MINT-7947479 I2D: score=1 STRING: ENSP00000221494
SMN1	Q16637²^,³	MINT-14308 MINT-7947479 I2D: score=1
C19orf43	Q9BQ61²^,³, ENSP00000242784⁴	MINT-8332954 I2D: score=4 STRING: ENSP00000242784

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000398	mRNA splicing, via spliceosome	TAS	--
GO:0008380	RNA splicing	TAS	--
GO:0010467	gene expression	TAS	--

SNRPA for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SNRPA for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SNRPA

1 DrugBank Compound for SNRPA About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Malonic acid	Malonate (see all 2)	141-82-2	target	--	--

7 Novoseek inferred chemical compound relationships for SNRPA gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
adenylate	41.5	21	12670951 (4), 16943419 (2), 10742179 (2), 11839494 (1) (see all 8)
hydrogen	27.4	8	11788718 (2), 12466552 (2), 16407334 (1), 16738410 (1) (see all 6)
adenine	19.3	6	12466552 (3), 15491147 (1), 16278830 (1)
guanidine hydrochloride	17.1	1	15476390 (1)
cysteine	0.481	1	10852733 (1)
atp	0	2	10648562 (1)
iron	0	4	1584791 (1)

Search CenterWatch for drugs/clinical trials and news about SNRPA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SNRPA gene:

NM_004596.4

Unigene Cluster for SNRPA:

Small nuclear ribonucleoprotein polypeptide A

Hs.466775 [show with all ESTs]

Unigene Representative Sequence: NM_004596

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000601545 ENST00000243563(uc002ooz.3) ENST00000601253 ENST00000597353

ENST00000599362 ENST00000599570 ENST00000601393 ENST00000598923 ENST00000600456

ENST00000598452 ENST00000596860

miRNA Products:
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SNRPA
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate SNRPA:
		hsa-miR-644 hsa-miR-1231 hsa-miR-654-3p hsa-miR-106a* hsa-miR-764
		SwitchGear 3'UTR luciferase reporter plasmid: SNRPA 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for SNRPA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SNRPA
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		GenScript: all cDNA clones in your preferred vector: SNRPA (NM_004596)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SNRPA
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SNRPA

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		SABiosciences RT² qPCR Primer Assay in human, mouse / rat SNRPA
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SNRPA
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SNRPA

Additional mRNA sequence:

AK293140.1 AK313182.1 BC000405.2 BC008290.1 X06347.1

17 DOTS entries:

DT.97854609 DT.100827444 DT.80102050 DT.100827448 DT.121436155 DT.100647055 DT.100827455 DT.305096

DT.100750095 DT.121436170 DT.100827445 DT.100827454 DT.121436208 DT.100719490 DT.100827446 DT.100827447

DT.95206669

24/488 AceView cDNA sequences (see all 488):

CR606390 BM740167 CR611065 CR614107 CR624653 CA306578 BM478204 BQ671697

BC000405 BM701785 AI452558 CR607723 CR617901 BM718224 BM682690 BQ670032

BG577318 BP871078 BU633509 CA313815 CR613649 BU630723 CR602490 CR622302

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for SNRPA (see all 10) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	^	3a	·	3b	·	3c	·	3d	^	4a	·	4b	·	4c	·	4d	^	5	^	6a	·	6b	·	6c	·	6d	^	7a	·	7b	·	7c	^	8	^	9
SP1:																	-								-								-						-
SP2:			-		-		-		-		-		-		-		-								-								-						-
SP3:									-		-		-				-								-								-
SP4:									-		-		-				-								-		-
SP5:							-		-		-		-				-								-

ECgene alternative splicing isoforms for SNRPA

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SNRPA expression in normal human tissues (normalized intensities) SNRPA embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CCTGCCCCTT

About this image

SNRPA expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/28 selected tissues (see all 28) fully expand


Reproductive System (Reproductive System) fully expand to see all 8 entries
vagina ; squamous epithelial cells

Skin (Integumentary System) fully expand to see all 5 entries
skin ; keratinocytes

Testis (Reproductive System) fully expand to see all 4 entries
Leydig Cells Testis Interstitium
seminal vesicle ; glandular cells

Brain (Nervous System) fully expand to see all 4 entries
Hippocampus

Tonsil
tonsil ; squamous epithelial cells

See SNRPA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SNRPA

SOURCE GeneReport for Unigene cluster: Hs.466775

SABiosciences Custom PCR Arrays for SNRPA

Primer Products:		OriGene qPCR primer pairs and template standards for SNRPA OriGene qSTAR qPCR primer pairs in human, mouse for SNRPA
		SABiosciences RT² qPCR Primer Assay in human, mouse / rat SNRPA
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SNRPA
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SNRPA

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SNRPA

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for SNRPA gene from 9/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Snrpa^{1 , 5}	small nuclear ribonucleoprotein polypeptide A^{1, 5}	88.97(n)¹ 96.44(a)¹		7 (15.84 cM)⁵ 53607¹ NM_001046637.1¹ NP_001040102.1¹ 27187005⁵
lizard (Anolis carolinensis)	Reptilia	SNRPA⁶	Uncharacterized protein	90(a)	1 ↔ 1	LGf(2806296-2810905)
African clawed frog (Xenopus laevis)	Amphibia	snf-prov²	sans fille	77.7(n)		X57953.1
zebrafish (Danio rerio)	Actinopterygii	BC064308.1²	--	80.27(n)		324121 BC064308.1
fruit fly (Drosophila melanogaster)	Insecta	snf¹	sans fille	69.22(n) 70.27(a)		31442 NM_078490.3 NP_511045.1
worm (Caenorhabditis elegans)	Secernentea	rnp-2¹	Protein RNP-2	60.03(n) 56.22(a)		177181 NM_068103.2 NP_500504.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	MSL1(YIR009W)⁴	U2B component of U2 snRNP, involved in splicing, binds more	--		9(374525-374860) 854826 NP_012274.1
thale cress (Arabidopsis thaliana)	eudicotyledons	U1A¹	spliceosomal protein U1A	54.99(n) 54.7(a)		819371 NM_130326.2 NP_182280.1
rice (Oryza sativa)	Liliopsida	Os.9766²	Oryza sativa (japonica cultivar-group) cDNA cloneJ more	74.96(n)		AK102716.1

ENSEMBL Gene Tree for SNRPA (if available)
TreeFam Gene Tree for SNRPA (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SNRPA gene

SNRPB2²

2 SIMAP similar genes for SNRPA using alignment to 7 protein entries: SNRPA_HUMAN (see all proteins):

SNRPB2 RBMX

SNRPA for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs185342823^1,2		--	41257861(+)	`GGTCTA/GTGTGC`	1	--	int¹		0	--	--	--	--
rs66743282^1,2	C	--	41257952(+)	`AAGAAA/GCTGGG`	1	--	int¹		3		WA NA	240
rs147298752^1,2		--	41258008(+)	`GAGGCC/TGAGGC`	1	--	int¹		0	--	--	--	--
rs139928103^1,2	C	--	41258090(+)	`ATACAA/GAATTA`	1	--	int¹		0	--	--	--	--
rs189760454^1,2		--	41258215(+)	`ACAGCC/TTGGGC`	1	--	int¹		0	--	--	--	--
rs180687652^1,2		--	41258223(+)	`GGCAAC/GAAGAG`	1	--	int¹		0	--	--	--	--
rs185943522^1,2		--	41258238(+)	`ACTCCC/GTCTCA`	1	--	int¹		0	--	--	--	--
rs10408452^1,2	C,F,H	--	41258355(+)	`TAGGAA/GCCCAA`	1	--	int¹		11		NS EA NA WA	1312
rs112046926^1,2	F	--	41258381(+)	`GGTGGT/CTCAGG`	1	--	int¹		2		CSA WA	120
rs59705765^1,2	C	--	41258485(+)	`AAAAA-/AAGGCTG`	1	--	int¹		1		NA	2

HapMap Linkage Disequilibrium report for SNRPA (41256542 - 41271297 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for SNRPA: About this table

Variant ID	Type	Subtype	PubMed ID
nsv833832	CNV	Loss	17160897
esv21537	CNV	Loss	19812545

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SNRPA for disorders           About GeneDecksing

OMIM gene information: 182285    OMIM disorders: --

7 diseases for SNRPA:    About MalaCards

mixed connective tissue disease yellow fever connective tissue disease myotonic dystrophy

lupus erythematosus cervicitis hepatitis

2 diseases from the University of Copenhagen DISEASES database for SNRPA:

Mixed connective tissue disease Lupus erythematosus

3 Novoseek inferred disease relationships for SNRPA gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mixed connective tissue disease	47.7	1	7930595 (1)
lupus erythematosus systemic	41	5	7930595 (1), 9342149 (1), 8605931 (1), 9328587 (1) (see all 5)
autoimmune diseases	17.4	1	7687615 (1)

Export disorders for SNRPA gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SNRPA gene, integrated from 9 sources (see all 153):
(articles sorted by number of sources associating them with SNRPA)

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world of online information

The snRNP-free U1A (SF-A) complex(es): identification of the largest subunit as PSF, the polypyrimidine-tract binding protein-associated splicing factor. (PubMed id 9848648)^{1, 2, 9} Lutz C.S.... Alwine J.C. (1998)
Tertiary structure of RBD2 and backbone dynamics of RBD1 and RBD2 of the human U1A protein determined by NMR spectroscopy. (PubMed id 9265619)^{1, 2, 9} Lu J. and Hall K.B. (1997)
Solution structure of the N-terminal RNP domain of U1A protein: the role of C-terminal residues in structure stability and RNA binding. (PubMed id 8609632)^{1, 2, 9} Avis J.M....Neuhaus D. (1996)
Structure, chromosomal localization and evolutionary conservation of the gene encoding human U1 snRNP-specific A protein. (PubMed id 1831431)^{1, 2, 9} Nelissen R.L.H.... van Venrooij W.J. (1991)
Crystal structure of the RNA-binding domain of the U1 small nuclear ribonucleoprotein A. (PubMed id 2147232)^{1, 2, 9} Nagai K.... Evans P.R. (1990)
Structural basis of the RNA-binding specificity of human U1A protein. (PubMed id 9312034)^{1, 2, 9} Allain F.H.-T.... Varani G. (1997)
NMR studies of U1 snRNA recognition by the N-terminal RNP domain of the human U1A protein. (PubMed id 8070414)^{1, 2, 9} Howe P.W.A.... Varani G. (1994)
Crystal structure at 1.92-A resolution of the RNA-binding domain of the U1A spliceosomal protein complexed with an RNA hairpin. (PubMed id 7984237)^{1, 2, 9} Oubridge C.... Nagai K. (1994)
Identification of molecular contacts between the U1 A small nuclear ribonucleoprotein and U1 RNA. (PubMed id 1833186)^{1, 2, 9} Jessen T.-H.... Nagai K. (1991)
Rapid and systematic analysis of the RNA recognition specificities of RNA-binding proteins. (PubMed id 19561594)^{1, 2} Ray D....Hughes T.R. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 6626	HGNC: 11151	AceView: SNRPA	Ensembl:ENSG00000077312	euGenes: HUgn6626
ECgene: SNRPA	Kegg: 6626	H-InvDB: SNRPA

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SNRPA	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SNRPA gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for SNRPA gene:
Search GeneIP for patents involving SNRPA

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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