• Gene id: 55764

Gene Summary

• Gene Symbol: IFT122   Gene   UCSC   Ensembl
• Aliases: CED, CED1, FAP80, SPG, WDR10, WDR10p, WDR140
• Gene name: intraflagellar transport 122
• Alternate names: intraflagellar transport protein 122 homolog, WD repeat domain 10, WD repeat-containing protein 10, WD repeat-containing protein 140, intraflagellar transport 122 homolog,
• Gene location: 3q21.3-q22.1 (129440035: 129520506)     Exons: 34     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein com
• OMIM: 618483

Protein Summary

• Protein general information: Q9HBG6  
  • Name: Intraflagellar transport protein 122 homolog (WD repeat containing protein 10) (WD repeat containing protein 140)
  • Length: 1241  
  • Mass: 141825
  • Tissue specificity: Expressed in many tissues. Predominant expression in testis and pituitary. {ECO
• Sequence:

  MRAVLTWRDKAEHCINDIAFKPDGTQLILAAGSRLLVYDTSDGTLLQPLKGHKDTVYCVAYAKDGKRFASGSADK
  SVIIWTSKLEGILKYTHNDAIQCVSYNPITHQLASCSSSDFGLWSPEQKSVSKHKSSSKIICCSWTNDGQYLALG
  MFNGIISIRNKNGEEKVKIERPGGSLSPIWSICWNPSSRWESFWMNRENEDAEDVIVNRYIQEIPSTLKSAVYSS
  QGSEAEEEEPEEEDDSPRDDNLEERNDILAVADWGQKVSFYQLSGKQIGKDRALNFDPCCISYFTKGEYILLGGS
  DKQVSLFTKDGVRLGTVGEQNSWVWTCQAKPDSNYVVVGCQDGTISFYQLIFSTVHGLYKDRYAYRDSMTDVIVQ
  HLITEQKVRIKCKELVKKIAIYRNRLAIQLPEKILIYELYSEDLSDMHYRVKEKIIKKFECNLLVVCANHIILCQ
  EKRLQCLSFSGVKEREWQMESLIRYIKVIGGPPGREGLLVGLKNGQILKIFVDNLFAIVLLKQATAVRCLDMSAS
  RKKLAVVDENDTCLVYDIDTKELLFQEPNANSVAWNTQCEDMLCFSGGGYLNIKASTFPVHRQKLQGFVVGYNGS
  KIFCLHVFSISAVEVPQSAPMYQYLDRKLFKEAYQIACLGVTDTDWRELAMEALEGLDFETAKKAFIRVQDLRYL
  ELISSIEERKKRGETNNDLFLADVFSYQGKFHEAAKLYKRSGHENLALEMYTDLCMFEYAKDFLGSGDPKETKML
  ITKQADWARNIKEPKAAVEMYISAGEHVKAIEICGDHGWVDMLIDIARKLDKAEREPLLLCATYLKKLDSPGYAA
  ETYLKMGDLKSLVQLHVETQRWDEAFALGEKHPEFKDDIYMPYAQWLAENDRFEEAQKAFHKAGRQREAVQVLEQ
  LTNNAVAESRFNDAAYYYWMLSMQCLDIAQDPAQKDTMLGKFYHFQRLAELYHGYHAIHRHTEDPFSVHRPETLF
  NISRFLLHSLPKDTPSGISKVKILFTLAKQSKALGAYRLARHAYDKLRGLYIPARFQKSIELGTLTIRAKPFHDS
  EELVPLCYRCSTNNPLLNNLGNVCINCRQPFIFSASSYDVLHLVEFYLEEGITDEEAISLIDLEVLRPKRDDRQL
  EIANNSSQILRLVETKDSIGDEDPFTAKLSFEQGGSEFVPVVVSRLVLRSMSRRDVLIKRWPPPLRWQYFRSLLP
  DASITMCPSCFQMFHSEDYELLVLQHGCCPYCRRCKDDPGP

• Structural information:
  • Interpro: IPR039857  IPR015943  IPR001680  IPR017986  IPR036322  
  • Prosite: PS50082 PS50294
  • STRING: ENSP00000296266
• Other Databases: GeneCards:  IFT122  Malacards:  IFT122

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035721	intraciliary retrograde transport	IBA	biological process
GO:0061512	protein localization to cilium	IBA	biological process
GO:1905515	non-motile cilium assembly	IBA	biological process
GO:0030991	intraciliary transport particle A	IBA	cellular component
GO:0097730	non-motile cilium	IBA	cellular component
GO:0030991	intraciliary transport particle A	IDA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0030991	intraciliary transport particle A	IDA	cellular component
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:0042073	intraciliary transport	IMP	biological process
GO:0060271	cilium assembly	IMP	biological process
GO:0060271	cilium assembly	ISS	biological process
GO:0035050	embryonic heart tube development	ISS	biological process
GO:0010172	embryonic body morphogenesis	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0061512	protein localization to cilium	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005929	cilium	ISS	cellular component
GO:0060173	limb development	ISS	biological process
GO:0048593	camera-type eye morphogenesis	ISS	biological process
GO:0045879	negative regulation of smoothened signaling pathway	ISS	biological process
GO:0035721	intraciliary retrograde transport	ISS	biological process
GO:0032391	photoreceptor connecting cilium	ISS	cellular component
GO:0001843	neural tube closure	ISS	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0061512	protein localization to cilium	IMP	biological process
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: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:0097546	ciliary base	IEA	cellular component
GO:0060271	cilium assembly	IEA	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IEA	biological process
GO:0036064	ciliary basal body	IEA	cellular component
GO:0035720	intraciliary anterograde transport	IEA	biological process
GO:0035050	embryonic heart tube development	IEA	biological process
GO:0030991	intraciliary transport particle A	IEA	cellular component
GO:0010172	embryonic body morphogenesis	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0007227	signal transduction downstream of smoothened	IEA	biological process
GO:1905515	non-motile cilium assembly	IEA	biological process
GO:0072594	establishment of protein localization to organelle	IEA	biological process
GO:0061512	protein localization to cilium	IEA	biological process
GO:0060971	embryonic heart tube left/right pattern formation	IEA	biological process
GO:0060831	smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA	biological process
GO:0060830	ciliary receptor clustering involved in smoothened signaling pathway	IEA	biological process
GO:0060173	limb development	IEA	biological process
GO:0048596	embryonic camera-type eye morphogenesis	IEA	biological process
GO:0048593	camera-type eye morphogenesis	IEA	biological process
GO:0045879	negative regulation of smoothened signaling pathway	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0035721	intraciliary retrograde transport	IEA	biological process
GO:0035115	embryonic forelimb morphogenesis	IEA	biological process
GO:0032391	photoreceptor connecting cilium	IEA	cellular component
GO:0021914	negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001843	neural tube closure	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Cranioectodermal dysplasia	KEGG:H00529
Cranioectodermal dysplasia	KEGG:H00529
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R