Mus musculus Protein: Ift57
Summary
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
UniProt Annotation
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
Interactions
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]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
Biological Process
GO:0001843 neural tube closure
GO:0001947 heart looping
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006915 apoptotic process
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0007224 smoothened signaling pathway
GO:0016192 vesicle-mediated transport
GO:0042073 intraciliary transport
GO:0042981 regulation of apoptotic process
GO:0050680 negative regulation of epithelial cell proliferation
GO:0060271 cilium morphogenesis
GO:0060972 left/right pattern formation
Cellular Component
GO:0005794 Golgi apparatus
GO:0005813 centrosome
GO:0005929 cilium
GO:0016020 membrane
GO:0030992 intraciliary transport particle B
GO:0032391 photoreceptor connecting cilium
GO:0036064 ciliary basal body
GO:0044292 dendrite terminus
GO:0072372 primary cilium
Protein Structure and Domains
PDB ID MGI:1921166
InterPro IPR010989 t-SNARE
IPR019530 Intra-flagellar transport protein 57
PFAM PF10498
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
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