Homo sapiens Protein: IFT43
Summary
InnateDB Protein IDBP-13207.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol IFT43
Protein Name intraflagellar transport 43 homolog (Chlamydomonas)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000238628
InnateDB Gene IDBG-13205 (IFT43)
Protein Structure
UniProt Annotation
Function Component of IFT complex A (IFT-A) involved in retrograde ciliary transport along microtubules from the ciliary tip to the base. {ECO:0000269PubMed:21378380}.
Subcellular Localization Cytoplasm, cytoskeleton {ECO:0000269PubMed:22361696}. Note=Associated with microtubules.
Disease Associations Cranioectodermal dysplasia 3 (CED3) [MIM:614099]: A disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described. {ECO:0000269PubMed:21378380}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0035721 intraciliary retrograde transport
GO:0060271 cilium morphogenesis
Cellular Component
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
GO:0015630 microtubule cytoskeleton
GO:0030991 intraciliary transport particle A
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96FT9
PhosphoSite PhosphoSite-Q96FT9
TrEMBL A0A024R6A9
UniProt Splice Variant
Entrez Gene 112752
UniGene Hs.738592
RefSeq NP_443105
HUGO HGNC:29669
OMIM 614068
CCDS CCDS9847
HPRD 14449
IMGT
EMBL AC008015 AF107885 AK056735 AK302944 BC010436 CH471061
GenPept AAC79728 AAF03245 AAH10436 BAG51798 BAG64101 EAW81246 EAW81248