InnateDB Protein
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IDBP-373282.5
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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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DYX1C1
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Protein Name
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DYX1C1-CCPG1 readthrough (non-protein coding)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000403412
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InnateDB Gene
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IDBG-544502 (DYX1C1)
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Protein Structure
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Function |
Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and proteasomal degradation of the estrogen receptors that play an important role in neuronal differentiation, survival and plasticity. Axonemal dynein assembly factor required for ciliary motility. {ECO:0000269PubMed:19423554, ECO:0000269PubMed:23872636}.
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Subcellular Localization |
Nucleus. Cytoplasm.
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Disease Associations |
Dyslexia 1 (DYX1) [MIM:127700]: A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. A chromosomal aberration involving DYX1C1 has been found in a family affected by dyslexia. Translocation t(2;15)(q11;q21).Ciliary dyskinesia, primary, 25 (CILD25) [MIM:615482]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269PubMed:23872636}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed in several tissues, including brain, lung, kidney and testis. In brain localizes to a fraction of cortical neurons and white matter glial cells. {ECO:0000269PubMed:12954984}.
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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 6 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
6
[view]
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Protein-Protein |
6
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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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 |
1 [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 |
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InterPro |
IPR007052
CS domain
IPR008978
HSP20-like chaperone
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PFAM |
PF04969
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8WXU2
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PhosphoSite |
PhosphoSite-Q8WXU2
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
161582
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UniGene |
Hs.126403
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RefSeq |
NP_001028732
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HUGO |
HGNC:21493
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OMIM |
608706
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CCDS |
CCDS32243
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HPRD |
10568
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IMGT |
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EMBL |
AC013355
AC022083
AF337549
AK095201
BC062564
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GenPept |
AAH62564
AAL73230
BAC04498
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