• Gene id: 8629

Gene Summary

• Gene Symbol: JRK   Gene   UCSC   Ensembl
• Aliases: JH8, jerky
• Gene name: Jrk helix-turn-helix protein
• Alternate names: jerky protein homolog, Jrk homolog, jerky homolog,
• Gene location: 8q24.3 (142669982: 142651500)     Exons: 7     NC_000008.11
• Gene summary(Entrez): 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
• OMIM: 602513

Protein Summary

• Protein general information: O75564  
  • Name: Jerky protein homolog
  • Length: 556  
  • Mass: 61815
  • Tissue specificity: Expressed ubiquitously. {ECO
• Sequence:

  MASKPAAGKSRGEKRKRVVLTLKEKIDICTRLEKGESRKALMQEYNVGMSTLYDIRAHKAQLLRFFASSDSNKAL
  EQRRTLHTPKLEHLDRVLYEWFLGKRSEGVPVSGPMLIEKAKDFYEQMQLTEPCVFSGGWLWRFKARHGIKKLDA
  SSEKQSADHQAAEQFCAFFRSLAAEHGLSAEQVYNADETGLFWRCLPNPTPEGGAVPGPKQGKDRLTVLMCANAT
  GSHRLKPLAIGKCSGPRAFKGIQHLPVAYKAQGNAWVDKEIFSDWFHHIFVPSVREHFRTIGLPEDSKAVLLLDS
  SRAHPQEAELVSSNVFTIFLPASVASLVQPMEQGIRRDFMRNFINPPVPLQGPHARYNMNDAIFSVACAWNAVPS
  HVFRRAWRKLWPSVAFAEGSSSEEELEAECFPVKPHNKSFAHILELVKEGSSCPGQLRQRQAASWGVAGREAEGG
  RPPAATSPAEVVWSSEKTPKADQDGRGDPGEGEEVAWEQAAVAFDAVLRFAERQPCFSAQEVGQLRALRAVFRSQ
  QQETVGLEDVVVTSPEELAIPKCCLEASTET

• Structural information:
  • Protein Domains: (11..6-)
    (/note="HTH-psq-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00320-)
    (77..14-)
    (/note="HTH-CENPB-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00583-)
    (213..38-)
    (/note="DDE-1-)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR004875  IPR009057  IPR006600  IPR007889  IPR036388  
  • Prosite: PS51253 PS50960
  • STRING: ENSP00000482410
• Other Databases: GeneCards:  JRK  Malacards:  JRK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090263	positive regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003729	mRNA binding	IEA	molecular function
GO:1990904	ribonucleoprotein complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005575	cellular_component	ND	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0003677	DNA binding	IBA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R