InnateDB Protein
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IDBP-13207.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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IFT43
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Protein Name
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intraflagellar transport 43 homolog (Chlamydomonas)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000238628
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InnateDB Gene
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IDBG-13205 (IFT43)
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Protein Structure
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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}.
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Subcellular Localization |
Cytoplasm, cytoskeleton {ECO:0000269PubMed:22361696}. Note=Associated with microtubules.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q96FT9
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PhosphoSite |
PhosphoSite-Q96FT9
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TrEMBL |
A0A024R6A9
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UniProt Splice Variant |
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Entrez Gene |
112752
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UniGene |
Hs.738592
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RefSeq |
NP_443105
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HUGO |
HGNC:29669
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OMIM |
614068
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CCDS |
CCDS9847
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HPRD |
14449
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IMGT |
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EMBL |
AC008015
AF107885
AK056735
AK302944
BC010436
CH471061
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GenPept |
AAC79728
AAF03245
AAH10436
BAG51798
BAG64101
EAW81246
EAW81248
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