• Gene id: 9786

Gene Summary

• Gene Symbol: KIAA0586   Gene   UCSC   Ensembl
• Aliases: JBTS23, SRTD14, Talpid3
• Gene name: KIAA0586
• Alternate names: protein TALPID3,
• Gene location: 14q23.1 (58427384: 58551296)     Exons: 39     NC_000014.9
• Gene summary(Entrez): This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms. [pro
• OMIM: 610178

Protein Summary

• Protein general information: Q9BVV6  
  • Name: Protein TALPID3
  • Length: 1533  
  • Mass: 169307
  • Tissue specificity: Ubiquitously expressed (PubMed
• Sequence:

  MPVKRLREVVSQNHGDHLVLLKDELPCVPPALSANKRLPVGTGTSLNGTSRGSSDLTSARNCYQPLLENPMVSES
  DFSKDVAVQVLPLDKIEENNKQKANDIFISQYTMGQKDALRTVLKQKAQSMPVFKEVKVHLLEDAGIEKDAVTQE
  TRISPSGIDSATTVAAATAAAIATAAPLIKVQSDLEAKVNSVTELLSKLQETDKHLQRVTEQQTSIQRKQEKLHC
  HDHEKQMNVFMEQHIRHLEKLQQQQIDIQTHFISAALKTSSFQPVSMPSSRAVEKYSVKPEHPNLGSCNPSLYNT
  FASKQAPLKEVEDTSFDKQKSPLETPAPRRFAPVPVSRDDELSKRENLLEEKENMEVSCHRGNVRLLEQILNNND
  SLTRKSESSNTTSLTRSKIGWTPEKTNRFPSCEELETTKVTMQKSDDVLHDLGQKEKETNSMVQPKESLSMLKLP
  DLPQNSVKLQTTNTTRSVLKDAEKILRGVQNNKKVLEENLEAIIRAKDGAAMYSLINALSTNREMSEKIRIRKTV
  DEWIKTISAEIQDELSRTDYEQKRFDQKNQRTKKGQNMTKDIRTNTQDKTVNKSVIPRKHSQKQIEEHFRNLPMR
  GMPASSLQKERKEGLLKATTVIQDEDYMLQVYGKPVYQGHRSTLKKGPYLRFNSPSPKSRPQRPKVIERVKGTKV
  KSIRTQTDFYATKPKKMDSKMKHSVPVLPHGDQQYLFSPSREMPTFSGTLEGHLIPMAILLGQTQSNSDTMPPAG
  VIVSKPHPVTVTTSIPPSSRKVETGVKKPNIAIVEMKSEKKDPPQLTVQVLPSVDIDSISNSSADVLSPLSSPKE
  ASLPPVQTWIKTPEIMKVDEEEVKFPGTNFDEIIDVIQEEEKCDEIPDSEPILEFNRSVKADSTKYNGPPFPPVA
  STFQPTADILDKVIERKETLENSLIQWVEQEIMSRIISGLFPVQQQIAPSISVSVSETSEPLTSDIVEGTSSGAL
  QLFVDAGVPVNSNVIKHFVNEALAETIAVMLGDREAKKQGPVATGVSGDASTNETYLPARVCTPLPTPQPTPPCS
  PSSPAKECVLVKTPDSSPCDSDHDMAFPVKEICAEKGDDMPAIMLVNTPTVTPTTTPPPAAAVFTPTLSDISIDK
  LKVSSPELPKPWGDGDLPLEEENPNSPQEELHPRAIVMSVAKDEEPESMDFPAQPPPPEPVPFMPFPAGTKAPSP
  SQMPGSDSSTLESTLSVTVTETETLDKPISEGEILFSCGQKLAPKILEDIGLYLTNLNDSLSSTLHDAVEMEDDP
  PSEGQVIRMSHKKFHADAILSFAKQNQESAVSQQAVYHSEDLENSVGELSEGQRPQLTAAAENILMGHSLYMQPP
  VTNTQSLDQQCDPKPLSRQFDTVSGSIYEDSCASHGPMSLGELELEPNSKLVLPTTLLTAQENDVNLPVAAEDFS
  QYQLKQNQDVKQVEHKPSQSYLRVRNKSDIAPSQQQVSPGDMDRTQIELNPYLTCVFSGGKAVPLSASQMPPAKM
  SVMLPSVNLEDCSQSLSLSTMQEDMESSGADTF

• Structural information:
  • Interpro: IPR029246  
  • STRING: ENSP00000346359
• Other Databases: GeneCards:  KIAA0586  Malacards:  KIAA0586

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036064	ciliary basal body	IBA	cellular component
GO:0005814	centriole	IBA	cellular component
GO:0007224	smoothened signaling pathway	IBA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0060271	cilium assembly	ISS	biological process
GO:0007224	smoothened signaling pathway	ISS	biological process
GO:0007224	smoothened signaling pathway	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:0036064	ciliary basal body	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0070201	regulation of establishment of protein localization	IMP	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0005813	centrosome	IEA	cellular component
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Short-rib thoracic dysplasia	KEGG:H02157
Joubert syndrome	KEGG:H00530
Short-rib thoracic dysplasia	KEGG:H02157
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray