InnateDB Protein
|
IDBP-178098.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
Gipc3
|
Protein Name
|
GIPC PDZ domain containing family, member 3
|
Synonyms
|
|
Species
|
Mus musculus
|
Ensembl Protein
|
ENSMUSP00000049236
|
InnateDB Gene
|
IDBG-178096 (Gipc3)
|
Protein Structure
|
|
Function |
Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion. {ECO:0000269PubMed:21326233}.
|
Subcellular Localization |
|
Disease Associations |
Note=Defects in GIPC3 underlie the age-related hearing loss 5 (ahl5) and juvenile audiogenic monogenic seizure (jams1) phenotypes. Ahl5 mice show irregular structure of the stereocilia bundle of outer and inner hair cells, late-onset degeneration of the organ of Corti. The spiral ganglion exhibits a severe loss of neurons. {ECO:0000269PubMed:21326233}.
|
Tissue Specificity |
Expressed in adult lung, brain and testis. In the inner ear, it is expressed in the inner and outer hair cells of the organ of Corti. Also expressed in cochlear spiral ganglion neurons. {ECO:0000269PubMed:11836631, ECO:0000269PubMed:21326233}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
|
Predicted by orthology |
Total |
1 [view]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
MGI:2387006
|
InterPro |
IPR001478
PDZ domain
IPR017379
Uncharacterised conserved protein UCP038083, PDZ
|
PFAM |
PF00595
PF13180
|
PRINTS |
|
PIRSF |
PIRSF038083
|
SMART |
SM00228
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q8R5M0
|
PhosphoSite |
PhosphoSite-
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
209047
|
UniGene |
Mm.218755
|
RefSeq |
NP_683753
|
MGI ID |
|
MGI Symbol |
Gipc3
|
OMIM |
|
CCDS |
CCDS24054
|
HPRD |
|
IMGT |
|
EMBL |
AB074494
|
GenPept |
BAB84713
|
|
|