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

Gene ID: 8629, updated on 11-Jun-2021

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
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
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Genomic context

See JRK in Genome Data Viewer
Location:
8q24.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (142651501..142669983, complement)
105.20201022 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 activity regulated cytoskeleton associated protein Neighboring gene uncharacterized LOC101928087 Neighboring gene prostate stem cell antigen Neighboring gene lncRNA associated with ovarian cancer 1 Neighboring gene lymphocyte antigen 6 family member K

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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)

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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_012215.2 RefSeqGene

    Range
    5017..17524
    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/TrEMBL
    D3DWI5
    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/TrEMBL
    D3DWI5
    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
    Q86XJ5
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    142651501..142669983 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517355.2XP_011515657.1  jerky protein homolog isoform X3

    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_011517354.2XP_011515656.1  jerky protein homolog isoform X2

    See identical proteins and their annotated locations for XP_011515656.1

    UniProtKB/TrEMBL
    D3DWI5
    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. XM_006716677.4XP_006716740.1  jerky protein homolog isoform X1

    See identical proteins and their annotated locations for XP_006716740.1

    UniProtKB/TrEMBL
    Q86XJ5
    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
  4. XM_006716678.4XP_006716741.1  jerky protein homolog isoform X1

    See identical proteins and their annotated locations for XP_006716741.1

    UniProtKB/TrEMBL
    Q86XJ5
    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
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