• Gene id: 112752

Gene Summary

• Gene Symbol: IFT43   Gene   UCSC   Ensembl
• Aliases: C14orf179, CED3, RP81, SRTD18
• Gene name: intraflagellar transport 43
• Alternate names: intraflagellar transport protein 43 homolog, IFT complex A subunit, intraflagellar transport 43 homolog,
• Gene location: 14q24.3 (75985752: 76084072)     Exons: 11     NC_000014.9
• Gene summary(Entrez): This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of
• OMIM: 614068

Protein Summary

• Protein general information: Q96FT9  
  • Name: Intraflagellar transport protein 43 homolog
  • Length: 208  
  • Mass: 23529
  • Tissue specificity: Expressed in the retina, predominantly in the photoreceptor outer segment. {ECO
• Sequence:

  MEDLLDLDEELRYSLATSRAKMGRRAQQESAQAENHLNGKNSSLTLTGETSSAKLPRCRQGGWAGDSVKASKFRR
  KASEEIEDFRLRPQSLNGSDYGGDIPIIPDLEEVQEEDFVLQVAAPPSIQIKRVMTYRDLDNDLMKYSAIQTLDG
  EIDLKLLTKVLAPEHEVREDDVGWDWDHLFTEVSSEVLTEWDPLQTEKEDPAGQARHT

• Structural information:
  • Interpro: IPR029302  
• Other Databases: GeneCards:  IFT43  Malacards:  IFT43

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030991	intraciliary transport particle A	IDA	cellular component
GO:0030991	intraciliary transport particle A	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0005929	cilium	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0035721	intraciliary retrograde transport	IMP	biological process
GO:0030991	intraciliary transport particle A	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0035735	intraciliary transport involved in cilium assembly	TAS	biological process
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005929	cilium	IEA	cellular component
GO:0030991	intraciliary transport particle A	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0015630	microtubule cytoskeleton	IDA	cellular component

Diseases

Associated diseases	References
Short-rib thoracic dysplasia	KEGG:H02157
Cranioectodermal dysplasia	KEGG:H00529
Short-rib thoracic dysplasia	KEGG:H02157
Cranioectodermal dysplasia	KEGG:H00529
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)