Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9444
Gene name Gene Name - the full gene name approved by the HGNC.
QKI, KH domain containing RNA binding
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
QKI
Synonyms (NCBI Gene) Gene synonyms aliases
Hqk, QK, QK1, QK3, hqkI
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q26
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006644 hsa-miR-214-3p Luciferase reporter assay 22227154
MIRT022660 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT052593 hsa-let-7a-5p CLASH 23622248
MIRT052209 hsa-let-7b-5p CLASH 23622248
MIRT051872 hsa-let-7c-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001570 Process Vasculogenesis IEA
GO:0003723 Function RNA binding HDA 22681889
GO:0003729 Function MRNA binding IBA 21873635
GO:0005515 Function Protein binding IPI 16189514, 16713569, 22365833, 23455924, 25416956, 29892012, 32296183, 32814053
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609590 21100 ENSG00000112531
Protein
UniProt ID Q96PU8
Protein name KH domain-containing RNA-binding protein QKI (Protein quaking) (Hqk) (HqkI)
Protein function RNA reader protein, which recognizes and binds specific RNAs, thereby regulating RNA metabolic processes, such as pre-mRNA splicing, circular RNA (circRNA) formation, mRNA export, mRNA stability and/or translation (PubMed:22398723, PubMed:236300
PDB 4JVH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16544 STAR_dimer 10 68 Homodimerisation region of STAR domain protein Domain
PF00013 KH_1 83 140 KH domain Domain
PF16551 Quaking_NLS 312 341 Putative nuclear localisation signal of quaking Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the frontal cortex of brain. Down-regulated in the brain of schizophrenic patients. {ECO:0000269|PubMed:16342280}.
Sequence
MVGEMETKEKPKPTPDYLMQLMNDKKLMSSLPNFCGIFNHLERLLDEEISRVRKDMYNDT
LNGSTEKR
SAELPDAVGPIVQLQEKLYVPVKEYPDFNFVGRILGPRGLTAKQLEAETGCK
IMVRGKGSMRDKKKEEQNRG
KPNWEHLNEDLHVLITVEDAQNRAEIKLKRAVEEVKKLLV
PAAEGEDSLKKMQLMELAILNGTYRDANIKSPALAFSLAATAQAAPRIITGPAPVLPPAA
LRTPTPAGPTIMPLIRQIQTAVMPNGTPHPTAAIVPPGPEAGLIYTPYEYPYTLAPATSI
LEYPIEPSGVLGAVATKVRRHDMRVHPYQRIVTADRAATGN
Sequence length 341
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Signaling by BRAF and RAF fusions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Glioma Glioma, mixed gliomas, Malignant Glioma rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499
View all (13 more)
26829751
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
20082458
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
23321059, 18938205, 16342280, 17012699, 23628989
Unknown
Disease term Disease name Evidence References Source
Mental depression Unipolar Depression, Major Depressive Disorder 19545858 ClinVar
Diabetes Diabetes GWAS
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Stimulate 27163826
Anodontia Associate 30614793
Breast Neoplasms Associate 25913416
Carcinogenesis Inhibit 19686745
Carcinogenesis Associate 30614793
Carcinoma Non Small Cell Lung Associate 27555542
Colorectal Neoplasms Inhibit 19686745
Colorectal Neoplasms Associate 30614793, 38041531
Dementia Associate 28600779
Diffuse Intrinsic Pontine Glioma Associate 37165121