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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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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

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