InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KIAA0319

Summary

InnateDB Protein

IDBP-591736.3

Last Modified

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

Gene Symbol

KIAA0319

Protein Name

KIAA0319

Synonyms

DYLX2; DYX2; NMIG;

Species

Homo sapiens

Ensembl Protein

ENSP00000437656

InnateDB Gene

IDBG-65426 (KIAA0319)

Protein Structure

UniProt Annotation

Function

Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non- cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites. {ECO:0000269PubMed:19679544}.

Subcellular Localization

Cell membrane; Single-pass type I membrane protein. Early endosome membrane; Single-pass type I membrane protein. Note=Low-abundance isoforms lacking the transmembrane domain have been described; these are secreted.

Disease Associations

Dyslexia 2 (DYX2) [MIM:600202]: 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. {ECO:0000269PubMed:16600991}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Detected in adult brain cortex and fetal frontal lobe (at protein level). Highly expressed in brain cortex, putamen, amygdala, hippocampus and cerebellum. {ECO:0000269PubMed:12834540, ECO:0000269PubMed:17846832}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0001764	neuron migration
GO:2000171	negative regulation of dendrite development

Cellular Component

GO:0005769	early endosome
GO:0005886	plasma membrane
GO:0016021	integral component of membrane
GO:0031901	early endosome membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000601 PKD domain
IPR002859 PKD/REJ-like protein
IPR003961 Fibronectin, type III
IPR011106 Seven cysteines, N-terminal
IPR013980 Seven cysteines
IPR022409 PKD/Chitinase domain

PFAM

PF00801
PF02010
PF00041
PF01108
PF07502

PRINTS

PIRSF

SMART

SM00060
SM00765
SM00089

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q5VV43