• Gene id: 8100

Gene Summary

• Gene Symbol: IFT88   Gene   UCSC   Ensembl
• Aliases: D13S1056E, DAF19, TG737, TTC10, hTg737
• Gene name: intraflagellar transport 88
• Alternate names: intraflagellar transport protein 88 homolog, TPR repeat protein 10, intraflagellar transport 88 homolog, polaris homolog, probe hTg737 (polycystic kidney disease, autosomal recessive), recessive polycystic kidney disease protein Tg737 homolog, testicular tissue,
• Gene location: 13q12.11 (20566445: 20691443)     Exons: 34     NC_000013.11
• Gene summary(Entrez): This gene encodes a member of the tetratrico peptide repeat (TPR) family. The encoded protein is involved in cilium biogenesis. Mutations of a similar gene in mouse can cause polycystic kidney disease. Several transcript variants encoding distinct isoform
• OMIM: 600595

Protein Summary

• Protein general information: Q13099  
  • Name: Intraflagellar transport protein 88 homolog (Recessive polycystic kidney disease protein Tg737 homolog) (Tetratricopeptide repeat protein 10) (TPR repeat protein 10)
  • Length: 833  
  • Mass: 94270
  • Tissue specificity: Expressed in the heart, brain, liver, lung, kidney, skeletal muscle and pancreas. {ECO
• Sequence:

  MKFTNTKVQMMQNVHLAPETDEDDLYSGYNDYNPIYDIEELENDAAFQQAVRTSHGRRPPITAKISSTAVTRPIA
  TGYGSKTSLASSIGRPMTGAIQDGVTRPMTAVRAAGFTKAALRGSAFDPLSQSRGPASPLEAKKKDSPEEKIKQL
  EKEVNELVEESCIANSCGDLKLALEKAKDAGRKERVLVRQREQVTTPENINLDLTYSVLFNLASQYSVNEMYAEA
  LNTYQVIVKNKMFSNAGILKMNMGNIYLKQRNYSKAIKFYRMALDQVPSVNKQMRIKIMQNIGVTFIQAGQYSDA
  INSYEHIMSMAPNLKAGYNLTICYFAIGDREKMKKAFQKLITVPLEIDEDKYISPSDDPHTNLVTEAIKNDHLRQ
  MERERKAMAEKYIMTSAKLIAPVIETSFAAGYDWCVEVVKASQYVELANDLEINKAVTYLRQKDYNQAVEILKVL
  EKKDSRVKSAAATNLSALYYMGKDFAQASSYADIAVNSDRYNPAALTNKGNTVFANGDYEKAAEFYKEALRNDSS
  CTEALYNIGLTYEKLNRLDEALDCFLKLHAILRNSAEVLYQIANIYELMENPSQAIEWLMQVVSVIPTDPQVLSK
  LGELYDREGDKSQAFQYYYESYRYFPCNIEVIEWLGAYYIDTQFWEKAIQYFERASLIQPTQVKWQLMVASCFRR
  SGNYQKALDTYKDTHRKFPENVECLRFLVRLCTDLGLKDAQEYARKLKRLEKMKEIREQRIKSGRDGSGGSRGKR
  EGSASGDSGQNYSASSKGERLSARLRALPGTNEPYESSSNKEIDASYVDPLGPQIERPKTAAKKRIDEDDFADEE
  LGDDLLPE

• Structural information:
  • Interpro: IPR006597  IPR013026  IPR011990  IPR019734  
  • Prosite: PS50005 PS50293
  • STRING: ENSP00000323580
• Other Databases: GeneCards:  IFT88  Malacards:  IFT88

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097730	non-motile cilium	IBA	cellular component
GO:0097546	ciliary base	IBA	cellular component
GO:0060122	inner ear receptor cell stereocilium organization	IBA	biological process
GO:0042073	intraciliary transport	IBA	biological process
GO:0036064	ciliary basal body	IBA	cellular component
GO:0001822	kidney development	IBA	biological process
GO:1905515	non-motile cilium assembly	IBA	biological process
GO:0019894	kinesin binding	IBA	molecular function
GO:0005814	centriole	IBA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:2000785	regulation of autophagosome assembly	ISS	biological process
GO:1902017	regulation of cilium assembly	ISS	biological process
GO:0060271	cilium assembly	ISS	biological process
GO:0036064	ciliary basal body	ISS	cellular component
GO:0005929	cilium	ISS	cellular component
GO:0005814	centriole	ISS	cellular component
GO:0030992	intraciliary transport particle B	ISS	cellular component
GO:0036126	sperm flagellum	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0005929	cilium	IDA	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030992	intraciliary transport particle B	ISS	cellular component
GO:0031514	motile cilium	ISS	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005814	centriole	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray