InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IFT140

Summary

InnateDB Protein

IDBP-363263.4

Last Modified

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

Gene Symbol

IFT140

Protein Name

intraflagellar transport 140 homolog (Chlamydomonas)

Synonyms

c305C8.4; c380F5.1; gs114; MZSDS; SRTD9; WDTC2;

Species

Homo sapiens

Ensembl Protein

ENSP00000406012

InnateDB Gene

IDBG-9054 (IFT140)

Protein Structure

UniProt Annotation

Function

Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Plays a pivotal role in proper development and function of ciliated cells. Involved in ciliogenesis and cilia maintenance. {ECO:0000269PubMed:22503633}.

Subcellular Localization

Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Disease Associations

Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]: 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. SRTD9 is characterized by phalangeal cone-shaped epiphyses, chronic renal disease, nearly constant retinal dystrophy, and mild radiographic abnormality of the proximal femur. Occasional features include short stature, cerebellar ataxia, and hepatic fibrosis. {ECO:0000269PubMed:22503633, ECO:0000269PubMed:23418020}. 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 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [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:0003674	molecular_function
GO:0005488	binding
GO:0005515	protein binding

Biological Process

GO:0042384	cilium assembly
GO:0048705	skeletal system morphogenesis
GO:0060041	retina development in camera-type eye
GO:0060271	cilium morphogenesis
GO:0061512	protein localization to cilium
GO:0072001	renal system development
GO:1902017	regulation of cilium assembly

Cellular Component

GO:0005813	centrosome
GO:0005929	cilium
GO:0005930	axoneme
GO:0030991	intraciliary transport particle A
GO:0032391	photoreceptor connecting cilium
GO:0036064	ciliary basal body
GO:0072372	primary cilium