U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 8629, updated on 10-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See JRK in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (142643682..142669967, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (143785226..143813495, complement)
    RS_2024_09 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

    Bibliography

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
    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

    Preferred Names
    jerky protein homolog
    Names
    Jrk homolog
    jerky homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001077527.3NP_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:83147
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      pfam04218
      Location:1466
      CENP-B_N; CENP-B N-terminal DNA-binding domain
      pfam03184
      Location:213382
      DDE_1; DDE superfamily endonuclease
    2. NM_001279352.2NP_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:83147
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      pfam04218
      Location:1466
      CENP-B_N; CENP-B N-terminal DNA-binding domain
      pfam03184
      Location:213382
      DDE_1; DDE superfamily endonuclease
    3. NM_003724.4NP_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:83147
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      pfam03184
      Location:213382
      DDE_1; DDE superfamily endonuclease
      pfam04218
      Location:1466
      CENP-B_N; CENP-B N-terminal DNA-binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_011517355.3XP_011515657.1  jerky protein homolog isoform X3

      UniProtKB/TrEMBL
      Q6ZS90
      Conserved Domains (3) summary
      smart00674
      Location:83147
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      pfam03184
      Location:213382
      DDE_1; DDE superfamily endonuclease
      pfam04218
      Location:1466
      CENP-B_N; CENP-B N-terminal DNA-binding domain
    2. XM_047422377.1XP_047278333.1  jerky protein homolog isoform X2

      UniProtKB/Swiss-Prot
      D3DWI5, O75564, O75565, Q86XJ5
      UniProtKB/TrEMBL
      Q6ZS90
    3. XM_047422376.1XP_047278332.1  jerky protein homolog isoform X1

      UniProtKB/TrEMBL
      Q6ZS90
    4. XM_047422379.1XP_047278335.1  jerky protein homolog isoform X2

      UniProtKB/Swiss-Prot
      D3DWI5, O75564, O75565, Q86XJ5
      UniProtKB/TrEMBL
      Q6ZS90
    5. XM_006716677.5XP_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:83147
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      pfam03184
      Location:213382
      DDE_1; DDE superfamily endonuclease
      pfam04218
      Location:1466
      CENP-B_N; CENP-B N-terminal DNA-binding domain
    6. XM_047422378.1XP_047278334.1  jerky protein homolog isoform X2

      UniProtKB/Swiss-Prot
      D3DWI5, O75564, O75565, Q86XJ5
      UniProtKB/TrEMBL
      Q6ZS90
    7. XM_006716678.5XP_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:83147
      CENPB; Putative DNA-binding domain in centromere protein B, mouse jerky and transposases
      pfam03184
      Location:213382
      DDE_1; DDE superfamily endonuclease
      pfam04218
      Location:1466
      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_054361429.1XP_054217404.1  jerky protein homolog isoform X3

      UniProtKB/TrEMBL
      Q6ZS90
    2. XM_054361426.1XP_054217401.1  jerky protein homolog isoform X2

      UniProtKB/Swiss-Prot
      D3DWI5, O75564, O75565, Q86XJ5
      UniProtKB/TrEMBL
      Q6ZS90
    3. XM_054361425.1XP_054217400.1  jerky protein homolog isoform X1

      UniProtKB/TrEMBL
      Q6ZS90
    4. XM_054361428.1XP_054217403.1  jerky protein homolog isoform X2

      UniProtKB/Swiss-Prot
      D3DWI5, O75564, O75565, Q86XJ5
      UniProtKB/TrEMBL
      Q6ZS90
    5. XM_054361423.1XP_054217398.1  jerky protein homolog isoform X1

      UniProtKB/TrEMBL
      Q6ZS90
    6. XM_054361427.1XP_054217402.1  jerky protein homolog isoform X2

      UniProtKB/Swiss-Prot
      D3DWI5, O75564, O75565, Q86XJ5
      UniProtKB/TrEMBL
      Q6ZS90
    7. XM_054361424.1XP_054217399.1  jerky protein homolog isoform X1

      UniProtKB/TrEMBL
      Q6ZS90