InnateDB Protein
|
IDBP-165058.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
Ift57
|
Protein Name
|
intraflagellar transport 57 homolog (Chlamydomonas)
|
Synonyms
|
4833420A15Rik; Esrrbl1; Hippi; MHS4R2;
|
Species
|
Mus musculus
|
Ensembl Protein
|
ENSMUSP00000046645
|
InnateDB Gene
|
IDBG-165056 (Ift57)
|
Protein Structure
|
|
Function |
Required for the formation of cilia. Plays an indirect role in sonic hedgehog signaling, cilia being required for all activity of the hedgehog pathway. Has pro-apoptotic function via its interaction with HIP1, leading to recruit caspase-8 (CASP8) and trigger apoptosis. Has the ability to bind DNA sequence motif 5'-AAAGACATG-3' present in the promoter of caspase genes such as CASP1, CASP8 and CASP10, suggesting that it may act as a transcription regulator; however the relevance of such function remains unclear. {ECO:0000269PubMed:17027958}.
|
Subcellular Localization |
Cytoplasm, cytoskeleton, cilium basal body. Golgi apparatus. Note=Concentrates within the inner segment of cilia.
|
Disease Associations |
|
Tissue Specificity |
Present in retina and testis. In brain, it is present in the cortex, striatum, globus pallidus, hypothalamus and cerebellum. Present at high level in neurons and neuropil throughout the brain (at protein level). Expressed in hippocampal neurons, where it colocalizes with HOMER1 at postsynaptic regions. {ECO:0000269PubMed:11788820, ECO:0000269PubMed:11916979, ECO:0000269PubMed:17107665}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated |
Total |
4
[view]
|
Protein-Protein |
3
[view]
|
Protein-DNA |
1
[view]
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
7 [view]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
MGI:1921166
|
InterPro |
IPR010989
t-SNARE
IPR019530
Intra-flagellar transport protein 57
|
PFAM |
PF10498
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q8BXG3
|
PhosphoSite |
PhosphoSite-Q8BXG3
|
TrEMBL |
B2RQZ0
|
UniProt Splice Variant |
|
Entrez Gene |
73916
|
UniGene |
Mm.241276
|
RefSeq |
NP_082956
|
MGI ID |
|
MGI Symbol |
Ift57
|
OMIM |
|
CCDS |
CCDS28211
|
HPRD |
|
IMGT |
|
EMBL |
AF274590
AK014731
AK047217
BC138143
BC138144
CH466521
DQ266091
|
GenPept |
AAI38144
AAI38145
AAK69403
ABB72788
BAB29522
BAC32995
EDK98108
|
|
|