Human Gene QKI (uc003qui.3) Description and Page Index
Description: Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA. RefSeq Summary (NM_006775): 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 and may play a role in schizophrenia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]. Transcript (Including UTRs) Position: hg19 chr6:163,835,675-163,999,628 Size: 163,954 Total Exon Count: 8 Strand: + Coding Region Position: hg19 chr6:163,836,226-163,991,742 Size: 155,517 Coding Exon Count: 8
ID:QKI_HUMAN DESCRIPTION: RecName: Full=Protein quaking; Short=Hqk; Short=HqkI; FUNCTION: RNA-binding protein that plays a central role in myelinization. Binds to the 5'-NACUAAY-N(1,20)-UAAY-3' RNA core sequence. Acts by regulating pre-mRNA splicing, mRNA export, mRNA stability and protein translation. Required to protect and promote stability of mRNAs such as MBP and CDKN1B. Regulator of oligodendrocyte differentiation and maturation in the brain that may play a role in myelin and oligodendrocyte dysfunction in schizophrenia. Participates in mRNA transport by regulating the nuclear export of MBP mRNA. Also involved in regulation of mRNA splicing of MAG pre-mRNA. Acts as a translational repressor (By similarity). SUBUNIT: Homodimer. Does not require RNA to homodimerize. Able to heterodimerize with BICC1 (By similarity). INTERACTION: P61978:HNRNPK; NbExp=3; IntAct=EBI-945792, EBI-304185; Q15365:PCBP1; NbExp=2; IntAct=EBI-945792, EBI-946095; P26599:PTBP1; NbExp=2; IntAct=EBI-945792, EBI-350540; Q9NWB1:RBFOX1; NbExp=2; IntAct=EBI-945792, EBI-945906; O43251:RBFOX2; NbExp=2; IntAct=EBI-945792, EBI-746056; Q93062:RBPMS; NbExp=2; IntAct=EBI-945792, EBI-740322; SUBCELLULAR LOCATION: Nucleus (By similarity). Cytoplasm (By similarity). TISSUE SPECIFICITY: Expressed in the frontal cortex of brain. Down-regulated in the brain of schizophrenic patients. PTM: Methylated by PRMT1 (By similarity). PTM: Tyrosine phosphorylated at its C-terminus, probably by FYN. Phosphorylation leads to decreased mRNA-binding affinity, affecting transport and/or stabilization of MBP mRNA (By similarity). SIMILARITY: Contains 1 KH domain. SEQUENCE CAUTION: Sequence=AAF63412.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA; Sequence=AAF63413.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAF63413.1; Type=Miscellaneous discrepancy; Note=Cloning artifact in N-terminus; Sequence=AAF63414.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAF63414.1; Type=Miscellaneous discrepancy; Note=Cloning artifact in N-terminus; Sequence=AAF63415.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA; Sequence=AAF63416.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA; Sequence=AAF63417.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAF63417.1; Type=Miscellaneous discrepancy; Note=Cloning artifact in N-terminus; Sequence=BAB55032.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Genetic Association Studies of Complex Diseases and Disorders
Aorta Christopher J O'Donnell et al. BMC medical genetics 2007, Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study., BMC medical genetics.
The results from this GWAS generate hypotheses regarding several SNPs that may be associated with SCA phenotypes in multiple arterial beds. Given the number of tests conducted, subsequent independent replication in a staged approach is essential to identify genetic variants that may be implicated in atherosclerosis.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00013 - KH domain PF16544 - Homodimerisation region of STAR domain protein PF16551 - Putative nuclear localisation signal of quaking
SCOP Domains: 54791 - Eukaryotic type KH-domain (KH-domain type I)
ModBase Predicted Comparative 3D Structure on Q96PU8
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.