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JRKL Gene

protein-coding   GIFtS: 46
GCID: GC11P096123

JRK-Like

(Previous names: erky (mouse) homolog-like, jerky homolog-like (mouse))
  See JRKL-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
JRK-like1 2
HHMJG2 3 5
Human Homolog Of Mouse Jerky Gene Protein2 3
Erky (Mouse) Homolog-Like1
Jerky Homolog-Like (Mouse)1
Jerky Protein Homolog-Like2

External Ids:    HGNC: 62001   Entrez Gene: 86902   Ensembl: ENSG000001833407   OMIM: 6032115   UniProtKB: Q9Y4A03   
ORGUL members:         

Export aliases for JRKL gene to outside databases

Previous GC identifers: GC11P098454 GC11P097631 GC11P096308 GC11P095811 GC11P095763 GC11P092189


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for JRKL Gene:
The function of this gene has not yet been defined, however, the encoded protein shares similarity with the human
(41% identical) and mouse (34% identical) jerky gene products. This protein may act as a nuclear regulatory
protein. Alternatively spliced transcript variants have been found for this gene. (provided by RefSeq, May 2012)

GeneCards Summary for JRKL Gene:
JRKL (JRK-like) is a protein-coding gene. Diseases associated with JRKL include fatty liver disease. An important paralog of this gene is TIGD2.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_033899.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the JRKL gene promoter:
         POU2F2 (Oct-2.1)   oct-B2   oct-B3   AML1a   POU2F2   RORalpha1   POU2F2C   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidJRKL promoter sequence
   Search Chromatin IP Primers for JRKL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat JRKL


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

Entrez Gene cytogenetic band: 11q21   Ensembl cytogenetic band:  11q21   HGNC cytogenetic band: 11q21

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P096123:  view genomic region     (about GC identifiers)

Start:
96,123,153 bp from pter      End:
96,240,738 bp from pter
Size:
117,586 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: JERKL_HUMAN, Q9Y4A0 (See protein sequence)
Recommended Name: Jerky protein homolog-like  
Size: 524 amino acids; 59912 Da
Sequence caution: Sequence=AAB65833.1; Type=Erroneous initiation;
Secondary accessions: A8K3G4 B2RAJ3 Q32MC2

Explore the universe of human proteins at neXtProt for JRKL: NX_Q9Y4A0

Explore proteomics data for JRKL at MOPED


See JRKL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001248762.1  NP_003763.2  

ENSEMBL proteins: 
 ENSP00000333350   ENSP00000389989  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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4 InterPro protein domains:
 IPR006600 HTH_CenpB_DNA-bd_dom
 IPR004875 DDE_SF_endonuclease_CENPB-like
 IPR009057 Homeodomain-like
 IPR007889 HTH_Psq

Graphical View of Domain Structure for InterPro Entry Q9Y4A0

ProtoNet protein and cluster: Q9Y4A0

1 Blocks protein domain: IPB004875 CENP-B protein

UniProtKB/Swiss-Prot: JERKL_HUMAN, Q9Y4A0
Similarity: Belongs to the tigger transposable element derived protein family
Similarity: Contains 1 DDE domain
Similarity: Contains 1 HTH CENPB-type DNA-binding domain
Similarity: Contains 1 HTH psq-type DNA-binding domain


Find genes that share domains with JRKL           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:
     Genatlas biochemistry entry for JRKL:
murine jerky homolog-like,involved in epileptic syndromes in mice,expressed in many tissues,with two alternatively
forms in testis

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003676nucleic acid binding ----
GO:0003677DNA binding IEA--
     
Find genes that share ontologies with JRKL           About GenesLikeMe


Animal Models:
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hsa-miR-607 hsa-miR-3938 hsa-miR-302d hsa-miR-520e hsa-miR-106a hsa-miR-513a-5p hsa-miR-183* hsa-miR-372
SwitchGear 3'UTR luciferase reporter plasmidJRKL 3' UTR sequence
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
JERKL_HUMAN, Q9Y4A0: Nucleus (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus4
cytosol3

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IEA--

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(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for JRKL
Interactions:

    Search GeneGlobe Interaction Network for JRKL

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

3 Interacting proteins for JRKL (ENSP000003333504) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
TIGD4ENSP000003551624STRING: ENSP00000355162
TIGD6ENSP000002967364STRING: ENSP00000296736
--ENSP000003549454STRING: ENSP00000354945
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Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007417central nervous system development TAS9240447

Find genes that share ontologies with JRKL           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for JRKL (JERKL)



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for JRKL gene (2 alternative transcripts): 
NM_001261833.1  NM_003772.3  

Unigene Cluster for JRKL:

Jerky homolog-like (mouse)
Hs.105940  [show with all ESTs]
Unigene Representative Sequence: NM_001261833
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000546177(uc021qpa.1) ENST00000332349(uc009ywu.3) ENST00000458427(uc001pfy.2)

miRNA
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Selected qRT-PCR Assays for microRNAs that regulate JRKL (see all 33):
hsa-miR-607 hsa-miR-3938 hsa-miR-302d hsa-miR-520e hsa-miR-106a hsa-miR-513a-5p hsa-miR-183* hsa-miR-372
SwitchGear 3'UTR luciferase reporter plasmidJRKL 3' UTR sequence
Inhib. RNA
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Additional mRNA sequence: 

AF004715.1 AK290579.1 BC031306.1 BC109202.2 

2 DOTS entries:

DT.404002  DT.99932675 

21 AceView cDNA sequences:

NM_003772 CA503357 BU633595 AI985103 BM468034 BX089945 AI733607 AF004715 
BG926401 BG403784 BQ719793 CA448235 AW662715 AA991350 BX472885 AI792197 
BF242601 BP334207 BG926222 AW151655 BU588099 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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JRKL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AAGAAAAATG
JRKL Expression
About this image

JRKL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

JRKL Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.105940

UniProtKB/Swiss-Prot: JERKL_HUMAN, Q9Y4A0
Tissue specificity: Abundantly expressed in the majority of tissues examined, including brain and skeletal muscle

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JRKL

(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)
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This gene was present in the common ancestor of chordates.

Orthologs for JRKL gene from Selected species (see all 8)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Jrkl1 , 5 jerky homolog-like (mouse)1, 5 89.8(n)1
94.07(a)1
  95
775321  NM_001033181.11  NP_001028353.11 
 132427905 
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
40(a)
many ↔ many
GL343575.1(371492-373055)


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for JRKL gene
TIGD22  TIGD12  TIGD72  TIGD52  CENPB2  TIGD62  TIGD32  TIGD42  
4 SIMAP similar genes for JRKL using alignment to 1 protein entry:     JERKL_HUMAN:
TIGD2    JRK    DKFZp686C24207    TIGD7

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(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for JRKL (see all 46)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1481416521,2
C--96125155(+) ATAGCG/AAAATC 4 /K /E mis11Minor allele frequency- A:0.00NA 4538
rs1418763021,2
C--96125195(+) ATCCAG/TTGAAA 4 S I mis11Minor allele frequency- T:0.00NA 4542
rs770906121,2
C--96125196(+) TCCAGT/AGAAAA 4 /R /S mis12Minor allele frequency- A:0.00WA NA 4660
rs1396075451,2
C--96125236(+) AGAAAC/GATATT 4 H D mis10--------
rs1391754261,2
C,F--96125238(+) AAACAT/CATTAA 4 /H syn12Minor allele frequency- C:0.00NA EU 5845
rs2003475951,2
C--96125437(-) TTGCAA/GAGAGT 2 -- ut310--------
rs1497489231,2
--96125463(+) TTTGTA/GTTCTG 2 -- ut310--------
rs47537501,2
C,F,A,H--96125922(+) TGCCTT/CCATTC 2 -- ut3110Minor allele frequency- C:0.02NS EA NA 1052
rs115494591,2
C,F--96126165(+) ATTTGG/TTAATA 2 -- ut311Minor allele frequency- T:0.08WA 118
rs2002993831,2
--96126286(+) TTAAT-/AAGTTTT 2 -- ut310--------

HapMap Linkage Disequilibrium report for JRKL (96123153 - 96240738 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for JRKL: --
Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing JRKL
DNA2.0 Custom Variant and Variant Library Synthesis for JRKL

(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.)
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OMIM gene information: 603211    OMIM disorders: --

1 disease for JRKL:    
About MalaCards
fatty liver disease


Find genes that share disorders with JRKL           About GenesLikeMe

Genetic Association Database (GAD): JRKL

Export disorders for JRKL 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)
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PubMed articles for JRKL gene, integrated from 10 sources (see all 18):
(articles sorted by number of sources associating them with JRKL)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Cloning, mapping, and tissue distribution of a human homologue of the mouse jerky gene product. (PubMed id 9240447)1, 2, 3 Zeng Z.... Li Y. (Biochem. Biophys. Res. Commun. 1997)
  2. PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies. (PubMed id 22648509)1 Wang K.S....Zeng M. (J. Mol. Neurosci. 2012)
  3. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (Nature 2012)
  4. Whole genome association scan for genetic polymorphisms influencing information processing speed. (PubMed id 21130836)4 Luciano M....Deary I.J. (Biol Psychol 2011)
  5. A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. (PubMed id 20889312)4 Wang K.S....Aragam N. (Schizophr. Res. 2010)
  6. A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PubMed id 19875614)4 Paterson A.D....Bull S.B. (Diabetes 2010)
  7. Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. (PubMed id 20708005)4 Chalasani N....Rotter J.I. (Gastroenterology 2010)
  8. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. (PubMed id 19734901)4 van Es M.A....van den Berg L.H. (Nat. Genet. 2009)
  9. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
  10. A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study. (PubMed id 17903292)4 Hwang S.J....Fox C.S. (BMC Med. Genet. 2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
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)
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Entrez Gene: 8690 HGNC: 6200 AceView: JRKL Ensembl:ENSG00000183340 euGenes: HUgn8690
ECgene: JRKL H-InvDB: JRKL

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for JRKL Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for JRKL gene:
Search GeneIP for patents involving JRKL

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JRKL
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for JRKL
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 Search Addgene for plasmids for JRKL
  Search eBioscience for proteins for JRKL
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  eBioscience FlowRNA Probe Sets
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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