Homo sapiens Protein: ODZ3 | |||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||
InnateDB Protein | IDBP-294936.5 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | ODZ3 | ||||||||||||||||||
Protein Name | odz, odd Oz/ten-m homolog 3 (Drosophila) | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000385276 | ||||||||||||||||||
InnateDB Gene | IDBG-281665 (ODZ3) | ||||||||||||||||||
Protein Structure | |||||||||||||||||||
UniProt Annotation | |||||||||||||||||||
Function | Involved in neural development, regulating the establishment of proper connectivity within the nervous system. Promotes axon guidance and homophilic cell adhesion. Plays a role in the development of the visual pathway; regulates the formation in ipsilateral retinal mapping to both the dorsal lateral geniculate nucleus (dLGN) and the superior colliculus (SC). May be involved in the differentiation of the fibroblast-like cells in the superficial layer of mandibular condylar cartilage into chondrocytes. May function as a cellular signal transducer (By similarity). {ECO:0000250}. | ||||||||||||||||||
Subcellular Localization | Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Cell projection, axon {ECO:0000250}. | ||||||||||||||||||
Disease Associations | Microphthalmia, isolated, with coloboma, 9 (MCOPCB9) [MIM:615145]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). {ECO:0000269PubMed:22766609}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | Expressed in adult and fetal brain, slightly lower levels in testis and ovary, and intermediate levels in all other peripheral tissues examined. Not expressed in spleen or liver. Expression was high in brain, with highest levels in amygdala and caudate nucleus, followed by thalamus and subthalamic nucleus. {ECO:0000269PubMed:10625539, ECO:0000269PubMed:10819331}. | ||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
|
||||||||||||||||||
Gene Ontology | |||||||||||||||||||
Molecular Function |
|
||||||||||||||||||
Biological Process |
|
||||||||||||||||||
Cellular Component |
|
||||||||||||||||||
Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000742
Epidermal growth factor-like domain IPR006530 YD repeat IPR008969 Carboxypeptidase-like, regulatory domain IPR009056 Cytochrome c-like domain IPR009471 Teneurin intracellular, N-terminal IPR013111 EGF-like domain, extracellular IPR022385 Rhs repeat-associated core |
||||||||||||||||||
PFAM |
PF00008
PF05593 PF13442 PF06484 PF07974 |
||||||||||||||||||
PRINTS | |||||||||||||||||||
PIRSF | |||||||||||||||||||
SMART |
SM00181
|
||||||||||||||||||
TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | Q9P273 | ||||||||||||||||||
PhosphoSite | PhosphoSite-Q9P273 | ||||||||||||||||||
TrEMBL | |||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 55714 | ||||||||||||||||||
UniGene | Hs.130438 | ||||||||||||||||||
RefSeq | |||||||||||||||||||
HUGO | HGNC:29944 | ||||||||||||||||||
OMIM | 610083 | ||||||||||||||||||
CCDS | |||||||||||||||||||
HPRD | |||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB040888 AC079226 AC093601 AC105288 AC109353 AC131943 AF195420 AK001336 AK001748 AK027473 AY736855 | ||||||||||||||||||
GenPept | AAF28318 AAU84915 BAA91633 BAA91879 BAA95979 BAB55138 | ||||||||||||||||||