InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IFT172

Summary

InnateDB Protein

IDBP-39608.6

Last Modified

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

Gene Symbol

IFT172

Protein Name

intraflagellar transport 172 homolog (Chlamydomonas)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000260570

InnateDB Gene

IDBG-39604 (IFT172)

Protein Structure

UniProt Annotation

Function

Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway (By similarity). {ECO:0000250}.

Subcellular Localization

Cell projection, cilium {ECO:0000269PubMed:24140113}. Note=Localized to the axoneme and around the base of the cilium.

Disease Associations

Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630]: 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:24140113}. 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 5 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	5 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005488	binding
GO:0005515	protein binding

Biological Process

GO:0001841	neural tube formation
GO:0001843	neural tube closure
GO:0001947	heart looping
GO:0007219	Notch signaling pathway
GO:0007224	smoothened signaling pathway
GO:0007368	determination of left/right symmetry
GO:0007420	brain development
GO:0007507	heart development
GO:0008544	epidermis development
GO:0008589	regulation of smoothened signaling pathway
GO:0009953	dorsal/ventral pattern formation
GO:0016485	protein processing
GO:0021522	spinal cord motor neuron differentiation
GO:0021915	neural tube development
GO:0031122	cytoplasmic microtubule organization
GO:0042384	cilium assembly
GO:0045880	positive regulation of smoothened signaling pathway
GO:0050680	negative regulation of epithelial cell proliferation
GO:0060021	palate development
GO:0060173	limb development
GO:0060271	cilium morphogenesis
GO:0060348	bone development
GO:0061525	hindgut development
GO:0070986	left/right axis specification