InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: WDR19

Summary

InnateDB Protein

IDBP-229625.6

Last Modified

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

Gene Symbol

WDR19

Protein Name

WD repeat domain 19

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000382717

InnateDB Gene

IDBG-13976 (WDR19)

Protein Structure

UniProt Annotation

Function

Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Involved in cilia function and/or assembly (By similarity). {ECO:0000250}.

Subcellular Localization

Cell projection, cilium {ECO:0000250}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Note=Localizes to photoreceptor connecting cilia, to the base of motile cilia in brain ependymal cells and to the base of and along primary cilia in kidney cells. {ECO:0000250}.

Disease Associations

Cranioectodermal dysplasia 4 (CED4) [MIM:614378]: 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:22019273}. Note=The disease is caused by mutations affecting the gene represented in this entry.Short-rib thoracic dysplasia 5 with or without polydactyly (SRTD5) [MIM:614376]: 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:22019273}. Note=The disease is caused by mutations affecting the gene represented in this entry.Nephronophthisis 13 (NPHP13) [MIM:614377]: An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. {ECO:0000269PubMed:22019273}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Some isoforms are tissue-specific. Highly expressed in the prostate. Lower expression in the cerebellum, pituitary gland, fetal lung, and pancreas. In normal prostate, expressed in both basal and luminal epithelial cells. No expression detected in fibromuscular stromal cells, endothelial cells, or infiltrating lymphocytes. Uniformed expression in prostate adenocarcinoma cells. {ECO:0000269PubMed:12906858}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	1 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0000902	cell morphogenesis
GO:0001701	in utero embryonic development
GO:0007224	smoothened signaling pathway
GO:0030326	embryonic limb morphogenesis
GO:0031076	embryonic camera-type eye development
GO:0035721	intraciliary retrograde transport
GO:0042384	cilium assembly
GO:0042471	ear morphogenesis
GO:0048701	embryonic cranial skeleton morphogenesis
GO:0050877	neurological system process
GO:0055123	digestive system development
GO:0060271	cilium morphogenesis
GO:0060830	ciliary receptor clustering involved in smoothened signaling pathway
GO:0060831	smoothened signaling pathway involved in dorsal/ventral neural tube patterning
GO:0061055	myotome development

Cellular Component

GO:0005737	cytoplasm
GO:0005856	cytoskeleton
GO:0005929	cilium
GO:0030991	intraciliary transport particle A
GO:0031513	nonmotile primary cilium
GO:0031514	motile cilium
GO:0032391	photoreceptor connecting cilium