• Gene id: 9444

Gene Summary

• Gene Symbol: QKI   Gene   UCSC   Ensembl
• Aliases: Hqk, QK, QK1, QK3, hqkI
• Gene name: QKI, KH domain containing RNA binding
• Alternate names: protein quaking, QKI/LOC100132735 fusion, RNA binding protein HQK, homolog of mouse quaking QKI (KH domain RNA binding protein), quaking homolog, KH domain RNA binding,
• Gene location: 6q26 (163414485: 163578591)     Exons: 8     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene is an RNA-binding protein that regulates pre-mRNA splicing, export of mRNAs from the nucleus, protein translation, and mRNA stability. The encoded protein is involved in myelinization and oligodendrocyte differentiation an
• OMIM: 609590

Protein Summary

• Protein general information: Q96PU8  
  • Name: Protein quaking (Hqk) (HqkI)
  • Length: 341  
  • Mass: 37671
  • Tissue specificity: Expressed in the frontal cortex of brain. Down-regulated in the brain of schizophrenic patients. {ECO
• Sequence:

  MVGEMETKEKPKPTPDYLMQLMNDKKLMSSLPNFCGIFNHLERLLDEEISRVRKDMYNDTLNGSTEKRSAELPDA
  VGPIVQLQEKLYVPVKEYPDFNFVGRILGPRGLTAKQLEAETGCKIMVRGKGSMRDKKKEEQNRGKPNWEHLNED
  LHVLITVEDAQNRAEIKLKRAVEEVKKLLVPAAEGEDSLKKMQLMELAILNGTYRDANIKSPALAFSLAATAQAA
  PRIITGPAPVLPPAALRTPTPAGPTIMPLIRQIQTAVMPNGTPHPTAAIVPPGPEAGLIYTPYEYPYTLAPATSI
  LEYPIEPSGVLGAVATKVRRHDMRVHPYQRIVTADRAATGN

• Structural information:
  • Protein Domains: (87..15-)
    (/note="KH"-)
  • Interpro: IPR004087  IPR004088  IPR036612  IPR032367  IPR032377  
  • PDB: 4JVH
  • PDBsum: 4JVH
  • STRING: ENSP00000355094
• Other Databases: GeneCards:  QKI  Malacards:  QKI

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0003729	mRNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0051028	mRNA transport	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0006417	regulation of translation	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0042692	muscle cell differentiation	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0001570	vasculogenesis	IEA	biological process
GO:0007286	spermatid development	IEA	biological process
GO:0008366	axon ensheathment	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0042552	myelination	IEA	biological process
GO:0042759	long-chain fatty acid biosynthetic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
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			28 men with azoospermia	Male infertility	Microarray