InnateDB Protein
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IDBP-136174.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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Qk
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Protein Name
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quaking
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Synonyms
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1110003F05Rik; 1500005P18; l(17)-1Wis; l17Wis1; QkI;
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000046740
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InnateDB Gene
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IDBG-136170 (Qk)
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Protein Structure
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Function |
RNA-binding protein that plays a central role in myelinization. Also required for visceral endoderm function and blood vessel development. 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, as well as cellular processes including apoptosis, cell cycle, glial cell fate and development. Required to protect and promote stability of mRNAs such as MBP and CDKN1B which promotes oligodendrocyte differentiation. Participates in mRNA transport by regulating the nuclear export of MBP mRNA. Isoform 1 is involved in regulation of mRNA splicing of MAG pre-mRNA by acting as a negative regulator of MAG exon 12 alternative splicing. Isoform 3 can induce apoptosis, while heterodimerization with other isoforms results in nuclear translocation of isoform 3 and suppression of apoptosis. Isoform 4 acts as a translational repressor for GLI1. May also play a role in smooth muscle development. {ECO:0000269PubMed:10535969, ECO:0000269PubMed:10864952, ECO:0000269PubMed:11297509, ECO:0000269PubMed:11892011, ECO:0000269PubMed:11917126, ECO:0000269PubMed:12467586, ECO:0000269PubMed:14706070, ECO:0000269PubMed:15568022, ECO:0000269PubMed:16198329, ECO:0000269PubMed:16470614}.
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Subcellular Localization |
Cytoplasm. Nucleus.Isoform 1: Cytoplasm. Nucleus. Note=Isoform 1 localizes predominantly in the nucleus and at lower levels in cytoplasm. It shuttles between the cytoplasm and the nucleus.Isoform 3: Cytoplasm. Nucleus. Note=Isoform 3 localizes predominantly in the cytoplasm and at much lower levels in nucleus.Isoform 4: Cytoplasm. Nucleus. Note=Isoform 4 localizes both in the cytoplasm and nucleus.
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Disease Associations |
Note=Defects in Qki are the cause of quakingviable (qkv). Qkv is a spontaneous mutation resulting in hypomyelinization of the central and peripheral nervous systems. Mutant mice develop normally until postnatal day 10 when they display rapid tremors or 'quaking' that is especially pronounced in hindlimbs and experience convulsive tonic-clonic seizures as they mature. Mice with qkv specifically lack isoform 3 and isoform 4 in myelin- forming cells, while isoform 1 is lacking in oligodendrocytes of severely affected tracts. Mice with qkv also lack the Park2 gene product, suggesting that the absence of Park2 may also affect the phenotype.
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Tissue Specificity |
Highly expressed in myelin-forming cells. Expressed in oligodendrocytes and astrocytes in the central nervous system as well as Schwann cells in the peripheral nervous system. Also expressed in the yolk sac endoderm, adjacent to the mesodermal site of developing blood islands, where the differentiation of blood and endothelial cells first occurs (at protein level). Expressed in brain, lung, heart and testis. {ECO:0000269PubMed:8589716, ECO:0000269PubMed:8987822, ECO:0000269PubMed:9778149}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 45 interaction(s) predicted by orthology.
Experimentally validated |
Total |
26
[view]
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Protein-Protein |
3
[view]
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Protein-DNA |
0
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Protein-RNA |
23
[view]
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
45 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
MGI:97837
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InterPro |
IPR004087
K Homology domain
IPR004088
K Homology domain, type 1
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PFAM |
PF00013
PF13014
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PRINTS |
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PIRSF |
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SMART |
SM00322
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TIGRFAMs |
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Modification |
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SwissProt |
Q9QYS9
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PhosphoSite |
PhosphoSite-Q9QYS9
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TrEMBL |
Q3UQQ1
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UniProt Splice Variant |
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Entrez Gene |
19317
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UniGene |
Mm.476212
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RefSeq |
NP_068681
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MGI ID |
4DNN
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MGI Symbol |
Qk
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OMIM |
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CCDS |
CCDS28387
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HPRD |
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IMGT |
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EMBL |
AF090392
AF090393
AF090394
AF090395
AF090396
AF090397
AF090400
AF090401
AF090402
AF090403
AF090404
AF091047
AF467890
AJ012812
AJ012813
AJ012814
AJ012815
AJ012816
AJ012817
AJ012818
AJ012819
AJ012820
AK005169
AK132303
AK142236
BC053426
BC056346
U44940
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GenPept |
AAC52491
AAC63042
AAC99452
AAC99453
AAC99454
AAD53329
AAD53330
AAD53331
AAD53332
AAH53426
AAH56346
AAM21006
AAM21007
AAM21008
AAM21009
AAM21010
BAB23859
BAE21091
BAE24988
CAB37614
CAB37615
CAB37616
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