IFT140

intraflagellar transport 140

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000187535
UniProt:
Q96RY7
OMIM:
614620
Synonyms:
GS114, KIAA0590, WDTC2

Cilia effects upon perturbation of IFT140

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia
Overexpression effect:
No effect

Ciliogenesis screen results (4 screens)

  • Kim2016: No effect
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.42) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-3.88) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
short-rib thoracic dysplasia 9 with or without polydactyly; retinitis pigmentosa; cystic kidney disease; kidney disease; Autosomal dominant polycystic kidney disease; Renal cyst; Kidney Cyst; Complex Cyst of Kidney

Ciliopathy associations

  • Autosomal Dominant Polycystic Kidney Disease
  • Cranioectodermal Dysplasia (Sensenbrenner)
  • Leber Congenital Amaurosis
  • Opitz Trigonocephaly C Syndrome
  • Retinal Dystrophy/Degeneration
  • Short-Rib Thoracic Dysplasia
  • Skeletal Ciliopathy
  • Male Infertility

References: PMID:22503633, PMID:26359340, PMID:23418020, PMID:26968735, PMID:34890546, PMID:28288023, PMID:28724397, PMID:29688594, PMID:37628605, PMID:26216056, PMID:36573973, PMID:39136524, PMID:35873489, PMID:24027799, PMID:38161384, PMID:37628605, PMID:33517396, PMID:35873489, PMID:32804427, PMID:29134781, PMID:39594267, PMID:32007091, PMID:37240262, PMID:27874174, PMID:34217267, PMID:38084016, PMID:30479745, PMID:24698627, PMID:24009529, PMID:40924493, PMID:28724397, PMID:26968735, PMID:40370963

Subcellular localization

basal body, centrosome, cilia

References: doi:10.1681/ASN.2011080829, PMID:41410385, PMID:41005307, PMID:23418020, PMID:29236364, PMID:24619649, PMID:40348912

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Transition zone

Function

Component of IFT-A complex, mutated in skeletal ciliopathies with kidney disease (23418020). Associates with IFT122 and IFT144 to a stable IFT-A core subcomplex, indispensable for dynein proteins retrograde transport into the cytoplasm and flagellar assembly. Required for development and maintenance of outer segments, ciliary/flagellar assembly and signal transduction (29236364, 24619649).