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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RNU1-4 Gene

RNA gene GIFtS: 18
GCID: GC01P017085

RNA, U1 small nuclear 4

(Previous names: RNA, U1E2 small nuclear, RNA, U1G2 small nuclear, RNA,...)
(Previous symbols: RNU1E2, RNU1G2, RNU1D2, RNU1F1, RNU1G1)

Explore 1 disease affiliated with
RNU1-4 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Subcategory (RNA class): snRNA

Quality score for this RNA gene is 5

Aliases
RNA, U1 Small Nuclear 4¹ ²		U1D2¹ ²
HSD2¹ ²		U1E2¹ ²
HSD5¹ ²		U1F¹ ²
HSD6¹ ²		RNU1² ⁵
HSD7¹ ²		RNA, U1D2 Small Nuclear¹
RNU1D2¹ ²		RNA, U1E2 Small Nuclear¹
RNU1E2¹ ²		RNA, U1F1 Small Nuclear¹
RNU1F1¹ ²		RNA, U1G1 Small Nuclear¹
RNU1G1¹ ²		RNA, U1G2 Small Nuclear¹
RNU1G2¹ ²		RNU1A⁵
U1B2¹ ²

External Ids:	HGNC: 10128¹	Entrez Gene: 6060²	Ensembl: ENSG00000207389⁷	OMIM: 180680⁵

ORGUL members:	fRNAdb¹⁰:FR065763 FR005262 FR067322 FR135896 FR249497
	NCBI:AK026936 M14586 M14385 M14386 M14587	see all 10
	NONCODE:u4044 u3829
	Rfam:RF00003

Export aliases for RNU1-4 gene to outside databases

Previous GC identifers: GC01U902384 GC01P017068 GC01P015467 GC01P017069 GC01P017074

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

fRNAdb sequence ontology for RNU1-4:
U1_snRNA - U1 is a small nuclear RNA (snRNA) component of the spliceosome (involved in pre-mRNA splicing). Its 5' end forms complementary base pairs with the 5' splice junction, thus defining the 5' donor site of an intron. There are significant differences in sequence and secondary structure between metazoan and yeast U1 snRNAs, the latter being much longer (568 nucleotides as compared to 164 nucleotides in human). Nevertheless, secondary structure predictions suggest that all U1 snRNAs share a 'common core' consisting of helices I, II, the proximal region of III, and IV.

View fRNAdb secondary structures for RNU1-4

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for RNU1-4
Other transcription factors

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RNU1-4

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

Entrez Gene cytogenetic band: 1p36.1 Ensembl cytogenetic band: 1p36.13 HGNC cytogenetic band: 1p36.1

RNU1-4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RNU1-4 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P017085: view genomic region (about GC identifiers)

Start:	17,067,011 bp from pter	End:	17,067,174 bp from pter
Size:	164 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
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About This Section

UniProtKB: --

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

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

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Spliceosomal Splicing Cycle

Spliceosomal Splicing Cycle

1.00

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for RNU1-4

Spliceosomal Splicing Cycle

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for RNU1-4

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

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

5/6 fRNAdb Secondary structures (see all 6):

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000384659(snRNA)

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GeneLoc Exon Structure

(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

Expression evidence for RNU1-4:none

RNU1-4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

SABiosciences Custom PCR Arrays for RNU1-4

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In Situ
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(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 human and mouse.

Orthologs for RNU1-4 gene from 1 species (see representative species ) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Rnu1a1⁵	U1a1 small nuclear RNA	--		11 87422867

ENSEMBL Gene Tree for RNU1-4 (if available)
TreeFam Gene Tree for RNU1-4 (if available)

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

Paralogs for RNU1-4 gene

RNU1-5² RNU1-16P² ENSG00000207322² ENSG00000200885² ENSG00000252135² ENSG00000202496² ENSG00000238554² ENSG00000212456²

ENSG00000206791² RNU1-12P² ENSG00000201616² ENSG00000201170² ENSG00000201142² ENSG00000200731² ENSG00000202167² ENSG00000206835²

ENSG00000200338² ENSG00000202077² ENSG00000207182² RNU1-17P² ENSG00000206917² ENSG00000201699² ENSG00000200807² ENSG00000207501²

ENSG00000212605² ENSG00000252491² ENSG00000251916² ENSG00000201976² ENSG00000252625² ENSG00000206629² ENSG00000202125² ENSG00000238833²

RNU1-15P² ENSG00000199773² RNU1-19P² ENSG00000207205² ENSG00000207110² ENSG00000206687² ENSG00000201922² ENSG00000199652²

ENSG00000199836² ENSG00000238898² RNU1-20P² ENSG00000202408² RNU1-6² RNU1-14P² ENSG00000252209² ENSG00000252166²

ENSG00000206968² ENSG00000199361² ENSG00000212473² ENSG00000212153² ENSG00000207340² ENSG00000199805² ENSG00000202000² ENSG00000199846²

ENSG00000201271² RNU1-13P² ENSG00000212609² ENSG00000202313² ENSG00000200903² ENSG00000199879² ENSG00000239023² ENSG00000252925²

RNU1-9² ENSG00000199283² ENSG00000202317² RNU1-3² ENSG00000201119² ENSG00000201558² RNU1-8² ENSG00000252842²

ENSG00000252099² ENSG00000252681² ENSG00000194647² ENSG00000206908² ENSG00000201574² ENSG00000200340² ENSG00000251970² ENSG00000207154²

ENSG00000239194² ENSG00000200296² ENSG00000200789² ENSG00000212172² ENSG00000252311² ENSG00000251917² RNU1-18P² ENSG00000253000²

ENSG00000202215² ENSG00000206698² RNU1-1² ENSG00000212544² ENSG00000200745² ENSG00000199497² ENSG00000201291² ENSG00000200997²

ENSG00000207106² ENSG00000207175² ENSG00000199469² ENSG00000207220² ENSG00000200597² ENSG00000207349² ENSG00000212424² RNU1-7²

ENSG00000252513² ENSG00000201105² ENSG00000199687² ENSG00000206820² ENSG00000202199² ENSG00000252990² ENSG00000206828² ENSG00000201183²

ENSG00000201910² ENSG00000253089² ENSG00000199554² ENSG00000207056² ENSG00000252426² RNU1-22P² ENSG00000252105² ENSG00000199488²

ENSG00000212550² ENSG00000212170² ENSG00000194297² RNU1-21P² ENSG00000252826² RNU1-23P² ENSG00000207339² ENSG00000201493²

ENSG00000238421² ENSG00000200800² ENSG00000207201² ENSG00000201737² ENSG00000201033² ENSG00000206624² ENSG00000252850² ENSG00000202380²

RNU1-10P² ENSG00000206694² RNU1-24P² ENSG00000252561² RNU1-11P² RNU1-2² ENSG00000200975² ENSG00000199426²

RNU1-4 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs201915255^1,2	--	--	17065375(+)	`GATCTC/TCAAGG`	1	--	us2k¹		0	--	--	--	--
rs200728174^1,2	--	--	17065279(+)	`GCAGTC/TACTAC`	1	--	us2k¹		0	--	--	--	--
rs200081595^1,2	--	--	17065511(+)	`CATCGC/TGAGAA`	1	--	us2k¹		0	--	--	--	--
rs199839529^1,2	--	--	17065342(+)	`ACTGGC/TCACCA`	1	--	us2k¹		0	--	--	--	--
rs200714370^1,2	--	--	17065371(+)	`TTATGA/GTCTCC`	1	--	us2k¹		0	--	--	--	--
rs201031922^1,2	--	--	17066508(+)	`GAGAAA/CCGGTT`	1	--	us2k¹		0	--	--	--	--
rs201925352^1,2	--	--	17065311(+)	`TTCAAA/TATTTT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for RNU1-4 (17067011 - 17067174 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for RNU1-4: --

SABiosciences Cancer Mutation PCR Assays

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

RNU1-4 for disorders           About GeneDecksing

OMIM gene information: 180680    OMIM disorders: --

1 disease for RNU1-4:    About MalaCards

cardiomyopathy

Export disorders for RNU1-4 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 RNU1-4 gene, integrated from 9 sources (see all 17):
(articles sorted by number of sources associating them with RNU1-4)

Utopia: connect your pdf to the dynamic
world of online information

Human U1 loci: genes for human U1 RNA have dramatically similar genomic environments. (PubMed id 6179629)^{1, 3} Manser T. and Gesteland R.F. (1982)
Recognition of atypical 5' splice sites by shifted base-pairing to U1 snRNA. (PubMed id 19169258)¹ Roca X. and Krainer A.R. (2009)
Non-snRNP U1A levels decrease during mammalian B-cell differentiation and release the IgM secretory poly(A) site from repression. (PubMed id 16373497)¹ Ma J....Phillips C. (2006)
The WW domain-containing proteins interact with the early spliceosome and participate in pre-mRNA splicing in vivo. (PubMed id 15456888)¹ Lin K.T....Tarn W.Y. (2004)
Nuclear speckle localisation of the small heat shock protein alpha B-crystallin and its inhibition by the R120G cardiomyopathy-linked mutation. (PubMed id 12837281)¹ van den IJssel P....Quinlan R.A. (2003)
Determinants within an 18-amino-acid U1A autoregulatory domain that uncouple cooperative RNA binding, inhibition of polyadenylation, and homodimerization. (PubMed id 12697817)¹ Guan F....Gunderson S.I. (2003)
Complex role of the beta 2-beta 3 loop in the interaction of U1A with U1 hairpin II RNA. (PubMed id 12082087)¹ Katsamba P.S....Laird-Offringa I.A. (2002)
Analysis of inhibitory action of modified U1 snRNAs on target gene expression: discrimination of two RNA targets differing by a 1 bp mismatch. (PubMed id 12034819)¹ Liu P....Rowe D. (2002)
True genes for human U1 small nuclear RNA. Copy number, polymorphism, and methylation. (PubMed id 6198328)¹ Lund E. and Dahlberg J.E. (1984)
Characterization of small nuclear RNA U1 gene candidates and pseudogenes from the human genome. (PubMed id 6180116)¹ Manser T. and Gesteland R.F. (1981)

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

		AND	OR
Aliases
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: 6060	HGNC: 10128	Ensembl:ENSG00000207389	euGenes: HUgn6060	ECgene: RNU1-4
H-InvDB: RNU1-4

(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 RNU1-4	Pharmacogenomics, SNPs, Pathways

Intellectual Property for RNU1-4 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for RNU1-4 gene:
Search GeneIP for patents involving RNU1-4

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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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RNU1-4 Gene

RNA, U1 small nuclear 4

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RNU1-4 (Gene Symbol)
RNA, U1 Small Nuclear 4
HSD2
HSD5
HSD6
HSD7
RNU1D2
RNU1E2
RNU1F1
RNU1G1
RNU1G2
U1B2
U1D2
U1E2
U1F
RNU1
RNA, U1D2 Small Nuclear
RNA, U1E2 Small Nuclear
RNA, U1F1 Small Nuclear
RNA, U1G1 Small Nuclear
RNA, U1G2 Small Nuclear
RNU1A

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RNU1-4 Gene

RNA, U1 small nuclear 4

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