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    JRK Jrk helix-turn-helix protein [ Homo sapiens (human) ]

    Gene ID: 8629, updated on 7-Apr-2024

    Summary

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    Official Symbol
    JRKprovided by HGNC
    Official Full Name
    Jrk helix-turn-helix proteinprovided by HGNC
    Primary source
    HGNC:HGNC:6199
    See related
    Ensembl:ENSG00000234616 MIM:603210; AllianceGenome:HGNC:6199
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JH8; jerky
    Summary
    This gene encodes a conserved protein that is similar to DNA-binding proteins, such as major centromere autoantigen B (CENPB). Inactivation of the related gene in mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in testis (RPKM 2.4), ovary (RPKM 2.3) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See JRK in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (142643682..142669967, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (143785226..143813495, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (143738874..143751385, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:143695033-143695931 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19600 Neighboring gene activity regulated cytoskeleton associated protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19601 Neighboring gene uncharacterized LOC101928087 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:143743050-143743570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:143743571-143744089 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:143748299-143749154 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28065 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19603 Neighboring gene prostate stem cell antigen Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:143762658-143763304 Neighboring gene uncharacterized LOC124902032

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. 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. Moore T, et al. Epilepsy Res, 2001 Aug. PMID 11463517
    2. Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24. Morita R, et al. Epilepsy Res, 1999 Nov. PMID 10510981
    3. JRK is a positive regulator of β-catenin transcriptional activity commonly overexpressed in colon, breast and ovarian cancer. Pangon L, et al. Oncogene, 2016 Jun 2. PMID 26455321
    4. JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24. Morita R, et al. Biochem Biophys Res Commun, 1998 Jul 20. PMID 9675132
    5. Jerky/Earthbound facilitates cell-specific Wnt/Wingless signalling by modulating β-catenin-TCF activity. Benchabane H, et al. EMBO J, 2011 Apr 20. PMID 21399610, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. JRK expression was aberrantly elevated in 21% of colorectal cancers, 15% of breast and ovarian cancers and was associated with increased expression of beta-catenin target genes and increased cell proliferation
      Title: JRK is a positive regulator of β-catenin transcriptional activity commonly overexpressed in colon, breast and ovarian cancer.
    2. in the adult intestine, Ebd acts independently of Ewg in physiological Wnt signaling, but cooperates with Ewg to induce the hyperactivation of Wnt target gene expression following Apc1 loss. These findings have relevance for human tumorigenesis, as Jerky (JRK/JH8), the human Ebd homolog, promotes Wnt pathway hyperactivation and is overexpressed in colorectal, breast, and ovarian cancers
      Title: Intestinal stem cell overproliferation resulting from inactivation of the APC tumor suppressor requires the transcription cofactors Earthbound and Erect wing.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ45729, DKFZp686C24207

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mRNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of ribonucleoprotein complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    jerky protein homolog
    Names
    Jrk homolog
    jerky homolog

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012215.3 RefSeqGene

      Range
      5000..17507
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001077527.3 → NP_001070995.2  jerky protein homolog isoform b

      See identical proteins and their annotated locations for NP_001070995.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate exon structure in the 3' region, which results in a frameshift, compared to variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a. Variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AC108002
      Consensus CDS
      CCDS75797.1
      UniProtKB/Swiss-Prot
      D3DWI5, O75564, O75565, Q86XJ5
      UniProtKB/TrEMBL
      Q6ZS90
      Related
      ENSP00000461610.1, ENST00000571961.7
      Conserved Domains (3) summary
      smart00674
      Location:83 → 147
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      pfam04218
      Location:14 → 66
      CENP-B_N; CENP-B N-terminal DNA-binding domain
      pfam03184
      Location:213 → 382
      DDE_1; DDE superfamily endonuclease

    2. NM_001279352.2 → NP_001266281.1  jerky protein homolog isoform b

      See identical proteins and their annotated locations for NP_001266281.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate exon structure in the 3' region, which results in a frameshift, compared to variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a. Variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AC108002
      Consensus CDS
      CCDS75797.1
      UniProtKB/Swiss-Prot
      D3DWI5, O75564, O75565, Q86XJ5
      UniProtKB/TrEMBL
      Q6ZS90
      Related
      ENSP00000483808.1, ENST00000615982.4
      Conserved Domains (3) summary
      smart00674
      Location:83 → 147
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      pfam04218
      Location:14 → 66
      CENP-B_N; CENP-B N-terminal DNA-binding domain
      pfam03184
      Location:213 → 382
      DDE_1; DDE superfamily endonuclease

    3. NM_003724.4 → NP_003715.3  jerky protein homolog isoform a

      See identical proteins and their annotated locations for NP_003715.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC108002
      Consensus CDS
      CCDS75796.1
      UniProtKB/TrEMBL
      Q6ZS90
      Related
      ENSP00000482410.1, ENST00000612905.2
      Conserved Domains (3) summary
      smart00674
      Location:83 → 147
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      pfam03184
      Location:213 → 382
      DDE_1; DDE superfamily endonuclease
      pfam04218
      Location:14 → 66
      CENP-B_N; CENP-B N-terminal DNA-binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      142643682..142669967 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517355.3 → XP_011515657.1  jerky protein homolog isoform X3

      UniProtKB/TrEMBL
      Q6ZS90
      Conserved Domains (3) summary
      smart00674
      Location:83 → 147
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      pfam03184
      Location:213 → 382
      DDE_1; DDE superfamily endonuclease
      pfam04218
      Location:14 → 66
      CENP-B_N; CENP-B N-terminal DNA-binding domain

    2. XM_047422377.1 → XP_047278333.1  jerky protein homolog isoform X2

      UniProtKB/Swiss-Prot
      D3DWI5, O75564, O75565, Q86XJ5

    3. XM_047422376.1 → XP_047278332.1  jerky protein homolog isoform X1

    4. XM_047422379.1 → XP_047278335.1  jerky protein homolog isoform X2

      UniProtKB/Swiss-Prot
      D3DWI5, O75564, O75565, Q86XJ5

    5. XM_006716677.5 → XP_006716740.1  jerky protein homolog isoform X1

      See identical proteins and their annotated locations for XP_006716740.1

      UniProtKB/TrEMBL
      Q6ZS90
      Conserved Domains (3) summary
      smart00674
      Location:83 → 147
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      pfam03184
      Location:213 → 382
      DDE_1; DDE superfamily endonuclease
      pfam04218
      Location:14 → 66
      CENP-B_N; CENP-B N-terminal DNA-binding domain

    6. XM_047422378.1 → XP_047278334.1  jerky protein homolog isoform X2

      UniProtKB/Swiss-Prot
      D3DWI5, O75564, O75565, Q86XJ5

    7. XM_006716678.5 → XP_006716741.1  jerky protein homolog isoform X1

      See identical proteins and their annotated locations for XP_006716741.1

      UniProtKB/TrEMBL
      Q6ZS90
      Conserved Domains (3) summary
      smart00674
      Location:83 → 147
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      pfam03184
      Location:213 → 382
      DDE_1; DDE superfamily endonuclease
      pfam04218
      Location:14 → 66
      CENP-B_N; CENP-B N-terminal DNA-binding domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      143785226..143813495 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361429.1 → XP_054217404.1  jerky protein homolog isoform X3

    2. XM_054361426.1 → XP_054217401.1  jerky protein homolog isoform X2

      UniProtKB/Swiss-Prot
      D3DWI5, O75564, O75565, Q86XJ5

    3. XM_054361425.1 → XP_054217400.1  jerky protein homolog isoform X1

    4. XM_054361428.1 → XP_054217403.1  jerky protein homolog isoform X2

      UniProtKB/Swiss-Prot
      D3DWI5, O75564, O75565, Q86XJ5

    5. XM_054361423.1 → XP_054217398.1  jerky protein homolog isoform X1

    6. XM_054361427.1 → XP_054217402.1  jerky protein homolog isoform X2

      UniProtKB/Swiss-Prot
      D3DWI5, O75564, O75565, Q86XJ5

    7. XM_054361424.1 → XP_054217399.1  jerky protein homolog isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75564.3 GenPept UniProtKB/Swiss-Prot:O75564

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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