InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Qk

Summary

InnateDB Protein

IDBP-136174.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Protein Name

quaking

Synonyms

1110003F05Rik; 1500005P18; l(17)-1Wis; l17Wis1; QkI;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000046740

InnateDB Gene

IDBG-136170 (Qk)

Protein Structure

UniProt Annotation

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}.

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.

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.

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}.

Comments

Interactions

Number of Interactions

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]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	23 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	45 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003723	RNA binding
GO:0017124	SH3 domain binding

Biological Process

GO:0001570	vasculogenesis
GO:0006397	mRNA processing
GO:0006417	regulation of translation
GO:0007286	spermatid development
GO:0008366	axon ensheathment
GO:0008380	RNA splicing
GO:0010628	positive regulation of gene expression
GO:0042552	myelination
GO:0042692	muscle cell differentiation
GO:0042759	long-chain fatty acid biosynthetic process
GO:0051028	mRNA transport