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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RUSC1 Gene

protein-coding GIFtS: 50
GCID: GC01P155290

RUN and SH3 domain containing 1

Explore 1 disease affiliated with
RUSC1 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

Aliases
RUN And SH3 Domain Containing 1¹ ²
NESCA¹ ² ³
New Molecule Containing SH3 At The Carboxy-Terminus² ³
RUN And SH3 Domain-Containing Protein 1²
Nesca³

External Ids:	HGNC: 17153¹	Entrez Gene: 23623²	Ensembl: ENSG00000160753⁷	UniProtKB: Q9BVN2³

Export aliases for RUSC1 gene to outside databases

Previous GC identifers: GC01P151031 GC01P152068 GC01P152507 GC01P152511 GC01P152103 GC01P153557 GC01P126652

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

UniProtKB/Swiss-Prot: RUSC1_HUMAN, Q9BVN2

Function: Putative signaling adapter which may play a role in neuronal differentiation. May be involved in regulation

of NGF-dependent neurite outgrowth. Proposed to play a role in neuronal vesicular trafficking, specifically involving

pre-synaptic membrane proteins. Seems to be involved in signaling pathways that are regulated by the prolonged

activation of MAPK. Can regulate the polyubiquitination of IKBKG and thus may be involved in regulation of the

NF-kappa-B pathway

(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

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RUSC1 gene promoter:
IRF-7A SEF-1 (1) GATA-1 YY1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RUSC1 promoter sequence

Search SABiosciences Chromatin IP Primers for RUSC1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RUSC1

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

Entrez Gene cytogenetic band: 1q21-q22 Ensembl cytogenetic band: 1q22 HGNC cytogenetic band: 1q21-q22

RUSC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RUSC1 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P155290: view genomic region (about GC identifiers)

Start:	155,290,640 bp from pter	End:	155,300,909 bp from pter
Size:	10,270 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,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RUSC1_HUMAN, Q9BVN2 (See protein sequence)

Recommended Name: RUN and SH3 domain-containing protein 1

Size: 902 amino acids; 96444 Da

Subunit: Interacts with IKBKG and TRAF6. Interacts with F-actin, acetylated actin, TUBB3, STX1A, KIF5B and KLC1 (By

similarity)

Subcellular location: Cytoplasm. Nucleus. Cytoplasm, cytoskeleton (By similarity). Cytoplasmic vesicle (By similarity).

Early endosome (By similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic density (By

similarity). Golgi apparatus (By similarity). Note=Translocated to the nuclear envelope upon stimulation with NGF.

Associated with membranes and microtubules (By similarity)

Sequence caution: Sequence=CAI12719.1; Type=Erroneous gene model prediction;

1 PDB 3D structure from and Proteopedia for RUSC1:

4GIW (3D)

Secondary accessions: Q5T9U9 Q5T9V1 Q5T9V2 Q9UPY4 Q9Y4T5

Alternative splicing: 2 isoforms: Q9BVN2-1 Q9BVN2-2

Explore the universe of human proteins at neXtProt for RUSC1: NX_Q9BVN2

Post-translational modifications:

Phosphorylated on serine residues following nuclear translocation¹

Polyubiquitinated; polyubiquitination involves TRAF6¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BVN2

RUSC1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001098673.1 NP_001098674.1 NP_001098675.1 NP_055143.2

ENSEMBL proteins:

ENSP00000357338 ENSP00000357336 ENSP00000357331 ENSP00000357333 ENSP00000292254

Human Recombinant Protein Products:

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	Novus Biologicals RUSC1 Proteins Novus Biologicals RUSC1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for RUSC1

Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IDA	--
GO:0005769	early endosome	ISS	--
GO:0005794	Golgi apparatus	ISS	--
GO:0005874	microtubule	IEA	--

RUSC1 for ontologies About GeneDecksing

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	GenScript Custom Assay Services for RUSC1
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	Uscn ELISAs and CLIAs for RUSC1

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

RUSC1 for domains About GeneDecksing

2 InterPro domains/families:

IPR001452 SH3_domain

IPR004012 Run

Graphical View of Domain Structure for InterPro Entry Q9BVN2

ProtoNet protein and cluster: Q9BVN2

1 Blocks protein family: IPB001452 SH3 domain signature

UniProtKB/Swiss-Prot: RUSC1_HUMAN, Q9BVN2

Domain: The RUN domain is necessary for NGF induced nuclear redistribution

Similarity: Contains 1 RUN domain

Similarity: Contains 1 SH3 domain

(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

Function Summary:

UniProtKB/Swiss-Prot: RUSC1_HUMAN, Q9BVN2

Function: Putative signaling adapter which may play a role in neuronal differentiation. May be involved in regulation

of NGF-dependent neurite outgrowth. Proposed to play a role in neuronal vesicular trafficking, specifically involving

pre-synaptic membrane proteins. Seems to be involved in signaling pathways that are regulated by the prolonged

activation of MAPK. Can regulate the polyubiquitination of IKBKG and thus may be involved in regulation of the

NF-kappa-B pathway

miRNA Products:		OriGene 3'-UTR Clone (see all 4): RUSC1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RUSC1
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate RUSC1 (see all 11):
		hsa-miR-140-3p hsa-miR-600 hsa-miR-125a-3p hsa-miR-3065-3p hsa-miR-2278 hsa-miR-455-3p hsa-miR-4314 hsa-miR-4298

		SwitchGear 3'UTR luciferase reporter plasmid: RUSC1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RUSC1 (see all 4) OriGene shRNA RFP: RUSC1 OriGene siRNA: RUSC1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RUSC1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for RUSC1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RUSC1 (see all 7) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RUSC1 (see all 4) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): RUSC1 (NM_014328)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RUSC1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for RUSC1
		Search LifeMap BioReagents cell lines for RUSC1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RUSC1

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	ISS	--
GO:0005070	SH3/SH2 adaptor activity	TAS	10760598
GO:0005515	protein binding	IPI	19365808

RUSC1 for ontologies About GeneDecksing

(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

Trk receptor signaling mediated by the MAPK pathway

Trk receptor signaling mediated by the MAPK pathway

1.00

1 BioSystems Pathway for RUSC1

Trk receptor signaling mediated by the MAPK pathway

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for RUSC1

5 Interacting proteins for RUSC1 (Q9BVN2^{1, 3}) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
IKBKG	Q9Y6K9¹^,³	EBI-6257338,EBI-356130 I2D: score=2
TRAF6	Q9Y4K3¹^,³	EBI-6257338,EBI-359276 I2D: score=2
DVL2	O14641³	I2D: score=1
NTRK1	P04629³	I2D: score=1
UBC	P0CG48³	I2D: score=1

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000209	protein polyubiquitination	IDA	19365808

RUSC1 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, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RUSC1
Search CenterWatch for drugs/clinical trials and news about RUSC1

(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,
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, 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 RUSC1 gene (4 alternative transcripts):

NM_001105203.1 NM_001105204.1 NM_001105205.1 NM_014328.3

Unigene Cluster for RUSC1:

RUN and SH3 domain containing 1

Hs.226499 [show with all ESTs]

Unigene Representative Sequence: NM_001105203

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

ENST00000368354(uc001fkk.2) ENST00000368352(uc001fkj.2) ENST00000467820

ENST00000484664 ENST00000497930 ENST00000368347(uc001fkl.2 uc001fkp.2 uc010pgb.1 uc009wqp.1)

ENST00000489860 ENST00000462780 ENST00000368349 ENST00000492536 ENST00000490373

ENST00000479924 ENST00000468764 ENST00000471876(uc001fko.2) ENST00000292254(uc009wqo.1 uc001fkn.2 uc001fkr.2)

ENST00000473331 ENST00000485924

miRNA Products:		OriGene 3'-UTR Clone (see all 4): RUSC1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RUSC1
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate RUSC1 (see all 11):
		hsa-miR-140-3p hsa-miR-600 hsa-miR-125a-3p hsa-miR-3065-3p hsa-miR-2278 hsa-miR-455-3p hsa-miR-4314 hsa-miR-4298

		SwitchGear 3'UTR luciferase reporter plasmid: RUSC1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RUSC1 (see all 4) OriGene shRNA RFP: RUSC1 OriGene siRNA: RUSC1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RUSC1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RUSC1 (see all 7) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RUSC1 (see all 4) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): RUSC1 (NM_014328)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for RUSC1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RUSC1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RUSC1 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RUSC1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RUSC1

Additional cDNA sequence:

AB026894.2 AK055451.1 AK074485.1 AK074982.1 AK125378.1 AK298730.1 AK307736.1 AK314559.1

AL080083.1 BC001045.2 BC004293.1 BC025680.1 BC028055.1 BC052277.1 BC131492.1 BX640612.1

CR749671.1

24/34 DOTS entries (see all 34):

DT.97849204 DT.95114937 DT.100881316 DT.100775646 DT.454177 DT.100765334 DT.100881314 DT.100881322

DT.121365214 DT.91916772 DT.121365180 DT.100881328 DT.100775644 DT.91763994 DT.100742144 DT.100689180

DT.100881319 DT.121365044 DT.100733135 DT.100833647 DT.100835809 DT.121365166 DT.99998848 DT.100666619

24/178 AceView cDNA sequences (see all 178):

BM703500 AW516552 AW296548 BM981469 BC004293 BQ004124 BQ014608 T31282

BU178916 BX461452 AX748300 AI371852 AA405803 CR616457 AK055451 BC025680

CR596817 CR618456 CR620448 AK093777 Z39944 CR590186 AI268286 CR594503

GeneLoc Exon Structure

5/22 Alternative Splicing Database (ASD) splice patterns (SP) for RUSC1 (see all 22) About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	^	3	^	4a	·	4b	^	5a	·	5b	·	5c	^	6a	·	6b	^	7	^	8	^	9a	·	9b	·	9c	·	9d	^	10	^	11	^	12a	·	12b	·	12c	·	12d	·	12e	^	13a	·
SP1:					-		-		-		-		-		-		-		-		-		-						-
SP2:																					-		-						-
SP3:																							-						-
SP4:																									-				-												-		-		-		-		-
SP5:																									-				-

ExUns:	13b	^	14a	·	14b	^	15a	·	15b	·	15c	·	15d	·	15e
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for RUSC1

(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

RUSC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGTACTAGG

About this image

RUSC1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Gut Tube

Midgut

Midgut Endoderm Cells

Endoderm

Neural Tube

Spinal Neural Tube Cells

Neural Ectoderm

Eye

Gut Tube

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

See RUSC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RUSC1

SOURCE GeneReport for Unigene cluster: Hs.226499

UniProtKB/Swiss-Prot: RUSC1_HUMAN, Q9BVN2

Tissue specificity: Predominantly expressed in brain

SABiosciences Custom PCR Arrays for RUSC1

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		SABiosciences RT² qPCR Primer Assay in human, mouse / rat RUSC1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RUSC1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RUSC1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RUSC1

(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 animals.

Orthologs for RUSC1 gene from 5/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	RUSC1⁶	--	53(a)	1 ↔ 1	25(1487796-1490545)
lizard (Anolis carolinensis)	Reptilia	RUSC1⁶	--	37(a)	1 ↔ 1	GL343519.1(250386-280030)
African clawed frog (Xenopus laevis)	Amphibia	Xl.3537²	Xenopus laevis transcribed sequence with weak similarity more	75.29(n)		BX842920.1
zebrafish (Danio rerio)	Actinopterygii	LOC558727¹	RUN and SH3 domain-containing protein 1-like	51.63(n) 44.65(a)		558727 XM_681985.5 XP_687077.4
fruit fly (Drosophila melanogaster)	Insecta	CG7029⁶	--	6(a)	1 → many	3R(18576614-18619752)

ENSEMBL Gene Tree for RUSC1 (if available)
TreeFam Gene Tree for RUSC1 (if available)

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

Paralogs for RUSC1 gene

RUSC2²

1 SIMAP similar gene for RUSC1 using alignment to 2 protein entries: RUSC1_HUMAN (see all proteins):

DKFZp761A1822

RUSC1 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
				--	--	--		--	--
rs11589917^1,2	C,H	--	126655314(+)	`CCATTC/ATGTGT`	2	--	us2k¹		6		NS EA NA	422
rs874870^1,2	C,H	--	126656050(+)	`GTTTGT/GCGGCC`	2	--	us2k¹ ut5¹ ese³		5		MN EA NS NA	480
rs74118446^1,2	C,F,	--	126656265(+)	`AGCTCG/CGGCCT`	2	--	us2k¹ ut5¹		2		WA CSA	4
rs77572436^1,2	C	--	126656985(-)	`CATCCA/CCAGCC`	3	G W	mis¹ ut5¹		0	--	--	--	--
rs200981717^1,2	C	--	126659341(+)	`TTTTTC/TTACAG`	2	--	int¹		0	--	--	--	--
rs112447892^1,2	F	--	126659547(+)	`TCAGT-/ATATGT`	2	--	int¹		2		CSA	4
rs74363046^1,2	F,	--	126660186(+)	`CCCCAG/CGGTTC`	2	--	int¹		1		WA	118
rs12061020^1,2	C,F,H	--	126660320(+)	`GCCTTC/TTCCTC`	4	S F	mis¹ ese³ trp³		9		NS EA NA	1104
rs74118448^1,2	C,F,	--	126660505(+)	`ATTATC/TGATGT`	2	--	int¹		3		WA CSA	122
rs12741581^1,2	C,F,H,	--	155291431(+)	`TTCCCC/TGCAGC`	3	--	int¹ ut5¹		14		NS EA NA	1738

HapMap Linkage Disequilibrium report for RUSC1 (155290640 - 155300909 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for RUSC1
2 CNVs: 3315 6789

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RUSC1

DNA2.0 Custom Variant and Variant Library Synthesis for RUSC1

(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

RUSC1 for disorders About GeneDecksing

1 disease for RUSC1: About MalaCards

neuronitis

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(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)
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PubMed articles for RUSC1 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with RUSC1)

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Molecular cloning and characterization of a novel human gene (NESCA) which encodes a putative adapter protein containing SH3. (PubMed id 10760598)^{1, 2, 3} Matsuda S.... Hamaguchi M. (2000)
Nesca, a novel adapter, translocates to the nuclear envelope and regulates neurotrophin-induced neurite outgrowth. (PubMed id 15024033)^{1, 2, 9} MacDonald J.I.S.... Meakin S.O. (2004)
NESCA: a new NEMO/IKKgamma and TRAF6 interacting prot ein. (PubMed id 19365808)^{1, 2} Napolitano G....Ursini M.V. (2009)
Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)^{1, 2} Otsuki T....Isogai T. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Nesca, a novel neuronal adapter protein, links the mol ecular motor kinesin with the pre-synaptic membrane protein, syntaxin-1, in hipp ocampal neurons. (PubMed id 22404429)¹ MacDonald J.I....Meakin S.O. (2012)
Crystal structure and functional implication of the RU N domain of human NESCA. (PubMed id 22821014)¹ Sun Q....Jiang T. (2012)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 23623	HGNC: 17153	AceView: RUSC1	Ensembl:ENSG00000160753	euGenes: HUgn23623
ECgene: RUSC1	H-InvDB: RUSC1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for RUSC1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for RUSC1 gene
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Patent Information for RUSC1 gene:
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RUN and SH3 domain containing 1

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RUN and SH3 domain containing 1

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