Gene Gene information from NCBI Gene database.
Entrez ID 9444
Gene name QKI, KH domain containing RNA binding
Gene symbol QKI
Synonyms (NCBI Gene)
HqkQKQK1QK3hqkI
Chromosome 6
Chromosome location 6q26
Summary 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.
1178
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
72
GO ID Ontology Definition Evidence Reference
GO:0001570 Process Vasculogenesis IEA
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IEA
GO:0003713 Function Transcription coactivator activity ISS
GO:0003723 Function RNA binding HDA 22681889
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609590 21100 ENSG00000112531
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANGIOCENTRIC GLIOMA Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMYELINATING DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30975029, 31026342
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 27163826 Stimulate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Angiocentric glioma Angiocentric Glioma BEFREE 26829751
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Angiocentric glioma Angiocentric Glioma ORPHANET_DG 26829751
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Angiocentric glioma Angiocentric Glioma Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anodontia Anodontia Pubtator 30614793 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 22832404
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 27402815
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 25913416 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 19686745 Inhibit
★☆☆☆☆
Found in Text Mining only