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JRK Gene

protein-coding GIFtS: 50

GC08M143735

jerky homolog (mouse)
(Previous name: jerky (mouse) homolog )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

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

Aliases
DKFZp686C24207 ^²
FLJ45729 ^²
JH8 ^¹, ², ³, ⁵
jerky ^²

Descriptions
jerky (mouse) homolog ^¹
jerky homolog (mouse) ^²

External Ids
HGNC: 6199¹
Entrez Gene: 8629²
UniProtKB: O75564³

Search outside databases for aliases for JRK gene

Previous GC identifers: GC08M142043 GC08M143974 GC08M143548 GC08M143807 GC08M143808

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

EntrezGene summary for JRK:

This gene is the human homolog of the mouse jerky gene. The encoded protein has similarity to

several nuclear regulatory proteins, including centromere protein B, suggesting that it might

function as a DNA-binding protein. Insertional inactivation of this gene in transgenic mice

resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same

chromosomal location (8q24.3) as this gene, making this gene a strong candidate for CAE. Two

transcript variants encoding different isoforms have been found for this gene. [provided by

RefSeq]

UniProtKB/Swiss-Prot: JERKY_HUMAN, O75564

Function: May bind DNA (By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the JRK gene

Entrez Gene cytogenetic band: 8q24.3 HGNC cytogenetic band: 8q24.3

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

GeneLoc gene densities for chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08M143735: (about GC identifiers)

Start:	143,735,876 bp from pter
End:	143,748,403 bp from pter
Size:	12,528 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000008.9 NT_008046.15

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: JERKY_HUMAN, O75564 (See protein sequence)

Recommended Name: Jerky protein homolog

Size: 520 amino acids; 57402 Da

Subcellular location: Nucleus (Potential)

Secondary accessions: O75565

REFSEQ proteins (2 alternative transcripts):

NP_001070995.1 NP_003715.2

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (JRK)
	Human Recombinant Proteins from Abnova (JRK)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005575	cellular_component	ND	--
GO:0005634	nucleus	IEA	--

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Antibodies for JRK:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (JRK), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (JRK)
	Novus Biologicals Antibodies for JRK

Assays for JRK:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

Graphical View of Domain Structure for InterPro Entry O75564

ProtoNet protein and cluster: O75564

1 Blocks protein family: IPB004875 CENP-B protein

UniProtKB/Swiss-Prot: JERKY_HUMAN, O75564

Similarity: Belongs to the tigger transposable element derived protein family

Similarity: Contains 1 DDE domain

Similarity: Contains 1 HTH CENPB-type DNA-binding domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (JRK)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (JRK)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_003724

Applied Biosystems Silencer® siRNAs for JRK

Sigma-Aldrich siRNA for JRK

Sigma-Aldrich shRNA for JRK

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for JRK
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001077527
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001077527
untagged cDNA clones in CMV expression vector (see all 3): NM_001077527

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_003724

UniProtKB/Swiss-Prot: JERKY_HUMAN, O75564

Function: May bind DNA (By similarity)

Genatlas biochemistry entry for JRK:

murine epilepsy jerky homolog on chromosome 8,widely expressed with a major large transcript and

two smaller minor transcripts,not implicated in childhood absence epilepsy

1 MGI phenotypic allele

for Jrk (no phenotypes)

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003674	molecular_function	ND	--
GO:0003677	DNA binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

2 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008150	biological_process	ND	--
GO:0045449	regulation of transcription	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for JRK

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (JRK)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (JRK)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_003724

Sigma-Aldrich siRNA for JRK

Sigma-Aldrich shRNA for JRK

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001077527 NM_003724

REFSEQ mRNAs for JRK gene (2 alternative transcripts):

NM_001077527.1 NM_003724.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001077527 NM_003724

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001077527
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001077527
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001077527

Additional cDNA sequence:

AF072468.1 BC043351.1

9 DOTS entries:

DT.120639785 DT.431224 DT.75102893 DT.102826414 DT.436244 DT.101978738 DT.100023994 DT.86850649

DT.40247181

24/123 AceView cDNA sequences (see all 123 ):

BM784502 AK024975 R54136 BU738814 BM469061 AW513355 BC036794 BU159904

BC030566 AF072468 Z45157 AK025687 BQ070109 BP376551 BC071862 AA263118

AI696719 AI193642 BM713746 BU148734 BM007621 BI855718 CA503338 AI004666

highest scoring ESTs for JRK:

AF072468 AI004666 BC043351 BF568137 BM784502 BQ427542 NM_003724 AA234478 AA263118 AI696719

Unigene Clusters for JRK:

Jerky homolog (mouse)

Hs.535903 [show with all ESTs], Hs.683465 [show with all ESTs]

Unigene Representative Sequences: NM_003724, BC043351

GeneLoc Exon Structure

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

JRK expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for JRK

¹ / ² / ³

11 probe-sets matching JRK gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
89377_at²^{, 3}	U95-E	1	1.00	1.00	0.59	1.13	AI004666	0.60	1.00	0.82	1
37873_g_at²^{, 3}	U95-A	1	1.00	1.00	0.74	0.71	AF072468	0.80	0.88	0.84	1
37872_at²^{, 3}	U133-A	1	1.00	1.00	0.45	1.18	AF072468	0.80	0.88	0.84	1
214692_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AL041139	0.20	1.00	0.72	1
216309_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF072467	0.60	0.83	0.73	1
37872_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF072468	0.80	0.88	0.84	1
1554916_a_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
214692_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
216309_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1568605_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
37872_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks JRK for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene clusters: Hs.535903 Hs.683465
Expression variation in blood from EXPOLDB for JRK
UniProtKB/Swiss-Prot: JERKY_HUMAN, O75564
Tissue specificity: Expressed ubiquitously

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for JRK gene from 5/6 species (see all 6 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	JRK¹	--	jerky homolog (mouse)	79.54(n) 78.19(a)	482067 XM_539188.1 XP_539188.1
chimpanzee (Pan troglodytes)	JRK¹	--	jerky homolog (mouse)	98.77(n) 98.59(a)	472875 XM_001149191.1 XP_001149191.1
cow (Bos taurus)	JRK¹	--	jerky homolog (mouse)	77.8(n) 74.95(a)	517625 XM_595799.2 XP_595799.2
rat (Rattus norvegicus)	Jrk¹	--	jerky homolog (mouse)	79.98(n) 79.32(a)	315073 XM_235416.4 XP_235416.2
mouse (Mus musculus)	Jrk^{1, 5}	15 (42.80 cM)⁵	jerky^{1, 5}	79.5(n)¹ 78.24(a)¹	16469¹ NM_008415.4¹ NP_032441.3¹ AA276035⁵ AK042652⁵ (see all 13)

About this table Species with no ortholog for JRK

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

Pseudogenes

1 related pseudogene

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/118 NCBI SNPs in JRK are shown (see all 118 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 67)

AB	SNP ID	Valid	Chr 8 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs750529^1,2	A,C,F,H,O	143741879(+)	`ACGTGC/GAAACC`	2	--	ut3¹ int¹		9	NA EA MN EU WA	2344
	rs750530^1,2	A,C,F,H,O	143741933(+)	`AGGCCG/ATAAGT`	2	--	int¹ ut3¹		6	MN EU EA WA	2100
	rs3735994^1,2	A,C,F,H	143739685(+)	`CAACGT/CAGAAG`	2	--	ut3¹ int¹		5	EA EU WA	1314
	rs4336593^1,2	A,C,F,H	143736649(+)	`agtttG/Tgattg`	2	--	ut3¹		8	EU EA WA	838
	rs6988393^1,2	A,C,F,H	143737598(+)	`CCAGAG/AGACAG`	2	--	int¹ ut3¹		4	EU EA WA	416
	rs3824208^1,2	A,C,F,H	143740655(-)	`CCTGTC/GAGACT`	2	--	int¹ ut3¹		4	EU EA WA	418
	rs4587307^1,2	A,C,F,H	143735531(+)	`ACAGAA/GACTGG`	2	--	ng5¹		4	EU EA WA	412
	rs2976400^1,2	A,C,F,H	143740613(-)	`CTTGAC/TCTGCT`	2	--	int¹ ut3¹		4	EU EA WA	418
	rs11543967^1,2	A,C,F,H	143736437(-)	`GAGGCG/AATAAA`	2	--	ut3¹		8	EU EA WA	836
	rs3735993^1,2	A,C,F,H	143738172(+)	`TGAACG/AGCAGG`	2	--	int¹ ut3¹		5	EA EU WA	1914

About this table

HapMap Linkage Disequilibrium images for JRK (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 603210

Human Gene Mutation Database: JRK

(Possibly Related Articles in Doctor's Guide)
About This Section

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

6 PubMed articles for JRK gene:

JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24. (PubMed id 9675132)^{1, 2, 3, 4} Morita R.... Yamakawa K. (1998)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)³ Kimura K.... Sugano S. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)³ Ota T....Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)³ Strausberg R.L....Marra M.A. (2002)
Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME. (PubMed id 11463517)³ Moore T....Bailleul B. (2001)
Complex regulation and nuclear localization of JRK protein. (PubMed id 15506925)¹ Waldron R. and Moore T. (2004)

(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, and/or H-InvDB)
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Entrez Gene: 8629	HGNC: 6199	AceView: JRK	euGenes: HUgn8629	ECgene: JRK
H-InvDB: JRK

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

Licensable Technologies for JRK
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for JRK:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for JRK-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for JRK		Browse antibodies at Sigma-Aldrich
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for JRK		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

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	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
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JRK Gene

protein-coding GIFtS: 50

Aliases &
Descriptions
for JRK

Summaries
for JRK

Genomic Location
for JRK

Proteins
for JRK

Protein Domains/
Families
for JRK

Gene Function
for JRK

Pathways & Interactions
for JRK

Drugs & Compounds
for JRK

Transcripts
for JRK

Expression
for JRK

Orthologs
for JRK

Paralogs
for JRK

SNPs/Variants
for JRK

Disorders & Mutations
for JRK

Medical News
for JRK

Publications
for JRK

Search for JRK

Genome Databases showing JRK

Other Databases showing JRK

Specialized Databases showing JRK

Licensable Technologies
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Services
for JRK

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

JRK Gene

protein-coding GIFtS: 50

Aliases & Descriptionsfor JRK

Summariesfor JRK

Genomic Locationfor JRK

Proteinsfor JRK

Protein Domains/Familiesfor JRK

Gene Functionfor JRK

Pathways & Interactionsfor JRK

Drugs & Compoundsfor JRK

Transcriptsfor JRK

Expression for JRK

Orthologsfor JRK

Paralogsfor JRK

SNPs/Variantsfor JRK

Disorders & Mutationsfor JRK

Medical Newsfor JRK

Publicationsfor JRK

Search for JRK

Genome Databases showing JRK

Other Databases showing JRK

Specialized Databases showing JRK

Licensable Technologiesfor JRK

Servicesfor JRK

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for JRK

Summaries
for JRK

Genomic Location
for JRK

Proteins
for JRK

Protein Domains/
Families
for JRK

Gene Function
for JRK

Pathways & Interactions
for JRK

Drugs & Compounds
for JRK

Transcripts
for JRK

Expression
for JRK

Orthologs
for JRK

Paralogs
for JRK

SNPs/Variants
for JRK

Disorders & Mutations
for JRK

Medical News
for JRK

Publications
for JRK

Licensable Technologies
for JRK

Services
for JRK