InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DYX1C1

Summary

InnateDB Protein

IDBP-13067.7

Last Modified

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

Gene Symbol

DYX1C1

Protein Name

DYX1C1-CCPG1 readthrough (non-protein coding)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000299561

InnateDB Gene

IDBG-544502 (DYX1C1)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Nucleus. Cytoplasm.

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.

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}.

Comments

Interactions

Number of Interactions

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]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0030331	estrogen receptor binding

Biological Process

GO:0001764	neuron migration
GO:0003341	cilium movement
GO:0007368	determination of left/right symmetry
GO:0033146	regulation of intracellular estrogen receptor signaling pathway
GO:0036158	outer dynein arm assembly
GO:0036159	inner dynein arm assembly
GO:0061136	regulation of proteasomal protein catabolic process

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005886	plasma membrane

Protein Structure and Domains

PDB ID

InterPro

IPR001440 Tetratricopeptide TPR1
IPR007052 CS domain
IPR008978 HSP20-like chaperone
IPR013026 Tetratricopeptide repeat-containing domain
IPR019734 Tetratricopeptide repeat

PFAM

PF00515
PF04969
PF13174
PF13176
PF13181

PRINTS

PIRSF

SMART

SM00028

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q8WXU2