InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IFT122

Summary

InnateDB Protein

IDBP-55881.6

Last Modified

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

Gene Symbol

IFT122

Protein Name

intraflagellar transport 122 homolog (Chlamydomonas)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000324005

InnateDB Gene

IDBG-55877 (IFT122)

Protein Structure

UniProt Annotation

Function

Required for cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm. Cell projection, cilium {ECO:0000250}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Note=Localizes to photoreceptor connecting cilia. {ECO:0000250}.

Disease Associations

Cranioectodermal dysplasia 1 (CED1) [MIM:218330]: A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture synostosis), scaphocephaly, short stature, limb shortening, short ribs, narrow chest, brachydactyly, renal failure and hepatic fibrosis, small and abnormally shaped teeth, sparse hair, skin laxity and abnormal nails. {ECO:0000269PubMed:20493458}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in many tissues. Predominant expression in testis and pituitary. {ECO:0000269PubMed:11242542}.

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 1 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	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0001843	neural tube closure
GO:0010172	embryonic body morphogenesis
GO:0035050	embryonic heart tube development
GO:0035721	intraciliary retrograde transport
GO:0045879	negative regulation of smoothened signaling pathway
GO:0048593	camera-type eye morphogenesis
GO:0060173	limb development
GO:0060271	cilium morphogenesis
GO:0061512	protein localization to cilium

Cellular Component

GO:0005737	cytoplasm
GO:0005856	cytoskeleton
GO:0016020	membrane
GO:0030991	intraciliary transport particle A
GO:0032391	photoreceptor connecting cilium
GO:0072372	primary cilium