Homo sapiens Protein: KIAA0319 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-364258.5 | ||||||||||||||||||
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 | ENSP00000401086 | ||||||||||||||||||
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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF00801
PF02010 PF00041 PF01108 PF07502 |
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PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00060
SM00765 SM00089 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q5VV43 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q5VV43 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 9856 | ||||||||||||||||||
UniGene | Hs.26441 | ||||||||||||||||||
RefSeq | NP_001161848 | ||||||||||||||||||
HUGO | HGNC:21580 | ||||||||||||||||||
OMIM | 609269 | ||||||||||||||||||
CCDS | CCDS54969 | ||||||||||||||||||
HPRD | 18713 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB002317 AK295008 AK296310 AK296426 AL031230 AL512385 BC140821 BC144628 BC152460 | ||||||||||||||||||
GenPept | AAI40822 AAI44629 AAI52461 BAA20777 BAG58068 BAG59008 BAG59087 CAH71730 CAI22601 | ||||||||||||||||||