IFT25 (intraflagellar transport 25)

Gene

• Entrez ID: 51668
• Gene name: Intraflagellar transport 25
• Gene symbol: IFT25
• Synonyms (NCBI Gene): C1orf41, CFAP232, FAP232, HSPB11, HSPCO34, PP25
• Chromosome: 1
• Chromosome location: 1p32.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020507	hsa-miR-155-5p	Proteomics	18668040

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001822	Process	Kidney development	ISS
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 27173435, 31515488, 32296183, 33961781, 35271311
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IEA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	NAS	26980730
GO:0005929	Component	Cilium	TAS
GO:0007224	Process	Smoothened signaling pathway	IBA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007283	Process	Spermatogenesis	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0007507	Process	Heart development	IEA
GO:0015031	Process	Protein transport	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030324	Process	Lung development	IEA
GO:0030992	Component	Intraciliary transport particle B	IBA
GO:0030992	Component	Intraciliary transport particle B	IEA
GO:0030992	Component	Intraciliary transport particle B	IPI	26980730
GO:0030992	Component	Intraciliary transport particle B	ISS
GO:0035720	Process	Intraciliary anterograde transport	NAS	26980730
GO:0042073	Process	Intraciliary transport	IEA
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:0060271	Process	Cilium assembly	NAS	26980730
GO:0070986	Process	Left/right axis specification	IEA
GO:0097542	Component	Ciliary tip	TAS

Other IDs

• MIM: 620841
• HGNC: 25019
• e!Ensembl: ENSG00000081870

Protein

• UniProt ID: Q9Y547
• Protein name: Intraflagellar transport protein 25 homolog (Heat shock protein beta-11) (Hspb11) (Heat shock protein family B member 11) (Placental protein 25) (PP25)
• Protein function: Component of the IFT complex B required for sonic hedgehog/SHH signaling. May mediate transport of SHH components: required for the export of SMO and PTCH1 receptors out of the cilium and the accumulation of GLI2 at the ciliary tip in response t
• PDB: 1TVG, 1XPW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00754	F5_F8_type_C	15 → 132	F5/8 type C domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in placenta. {ECO:0000269|PubMed:2018407}.
• Sequence:

  MRKIDLCLSSEGSEVILATSSDEKHPPENIIDGNPETFWTTTGMFPQEFIICFHKHVRIE
  RLVIQSYFVQTLKIEKSTSKEPVDFEQWIEKDLVHTEGQLQNEEIVAHDGSATYLRFIIV
  SAFDHFASVHSVSAEGTVVSNLSS

• Sequence length: 144

Pathways

Reactome:

Intraflagellar transport

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CONGENITAL ABSENCE OF KIDNEY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal agenesis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Brain Neoplasms	Brain Neoplasms	LHGDN	18154656		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25798051	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	29626631		★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	29626631		★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	BEFREE	29626631		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	26694816		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	33463119	Associate	★☆☆☆☆ Found in Text Mining only