InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IFT80

Summary

InnateDB Protein

IDBP-63441.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

IFT80

Protein Name

intraflagellar transport 80 homolog (Chlamydomonas)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000312778

InnateDB Gene

IDBG-63437 (IFT80)

Protein Structure

UniProt Annotation

Function

Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia. {ECO:0000269PubMed:17468754}.

Subcellular Localization

Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250}. Note=Basal body and ciliary axoneme. {ECO:0000250}.

Disease Associations

Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2) [MIM:611263]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269PubMed:17468754}. 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.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0001649	osteoblast differentiation
GO:0002062	chondrocyte differentiation
GO:0007224	smoothened signaling pathway
GO:0042384	cilium assembly
GO:0045880	positive regulation of smoothened signaling pathway
GO:0050680	negative regulation of epithelial cell proliferation
GO:0060271	cilium morphogenesis
GO:0060349	bone morphogenesis
GO:2000051	negative regulation of non-canonical Wnt signaling pathway