• Gene id: 28981

Gene Summary

• Gene Symbol: IFT81   Gene   UCSC   Ensembl
• Aliases: CDV-1, CDV-1R, CDV1, CDV1R, DV1, SRTD19
• Gene name: intraflagellar transport 81
• Alternate names: intraflagellar transport protein 81 homolog, carnitine deficiency-associated gene expressed in ventricle 1, carnitine deficiency-associated protein expressed in ventricle 1,
• Gene location: 12q24.11 (110124334: 110218792)     Exons: 22     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations
• OMIM: 607363

Protein Summary

• Protein general information: Q8WYA0  
  • Name: Intraflagellar transport protein 81 homolog (Carnitine deficiency associated protein expressed in ventricle 1) (CDV 1)
  • Length: 676  
  • Mass: 79746
  • Tissue specificity: Highly expressed in testis, moderately in ovary, heart, liver, skeletal muscle, kidney and pancreas, low in prostate, brain, placenta and lung and not detected in spleen, thymus, small intestine and colon. Isoform CDV-1R is abundantly
• Sequence:

  MSDQIKFIMDSLNKEPFRKNYNLITFDSLEPMQLLQVLSDVLAEIDPKQLVDIREEMPEQTAKRMLSLLGILKYK
  PSGNATDMSTFRQGLVIGSKPVIYPVLHWLLQRTNELKKRAYLARFLIKLEVPSEFLQDETVADTNKQYEELMEA
  FKTLHKEYEQLKISGFSTAEIRKDISAMEEEKDQLIKRVEHLKKRVETAQNHQWMLKIARQLRVEKEREEYLAQQ
  KQEQKNQLFHAVQRLQRVQNQLKSMRQAAADAKPESLMKRLEEEIKFNLYMVTEKFPKELENKKKELHFLQKVVS
  EPAMGHSDLLELESKINEINTEINQLIEKKMMRNEPIEGKLSLYRQQASIISRKKEAKAEELQEAKEKLASLERE
  ASVKRNQTREFDGTEVLKGDEFKRYVNKLRSKSTVFKKKHQIIAELKAEFGLLQRTEELLKQRHENIQQQLQTME
  EKKGISGYSYTQEELERVSALKSEVDEMKGRTLDDMSEMVKKLYSLVSEKKSALASVIKELRQLRQKYQELTQEC
  DEKKSQYDSCAAGLESNRSKLEQEVRRLREECLQEESRYHYTNCMIKNLEVQLRRATDEMKAYISSDQQEKRKAI
  REQYTKNTAEQENLGKKLREKQKVIRESHGPNMKQAKMWRDLEQLMECKKQCFLKQQSQTSIGQVIQEGGEDRLI
  L

• Structural information:
  • Interpro: IPR029600  IPR041146  IPR043016  
  • STRING: ENSP00000242591
• Other Databases: GeneCards:  IFT81  Malacards:  IFT81

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036064	ciliary basal body	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0005929	cilium	IBA	cellular component
GO:0030992	intraciliary transport particle B	IBA	cellular component
GO:0005813	centrosome	IBA	cellular component
GO:0015631	tubulin binding	IBA	molecular function
GO:0042073	intraciliary transport	IBA	biological process
GO:0015631	tubulin binding	IDA	molecular function
GO:0060271	cilium assembly	IMP	biological process
GO:0060271	cilium assembly	IMP	biological process
GO:0035735	intraciliary transport involved in cilium assembly	IMP	biological process
GO:0030992	intraciliary transport particle B	ISS	cellular component
GO:0008589	regulation of smoothened signaling pathway	IMP	biological process
GO:0015631	tubulin binding	IEA	molecular function
GO:0042073	intraciliary transport	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0030992	intraciliary transport particle B	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005929	cilium	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: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:0005929	cilium	IEA	cellular component
GO:0030992	intraciliary transport particle B	IEA	cellular component
GO:0005813	centrosome	IEA	cellular component
GO:0007283	spermatogenesis	IEA	biological process
GO:0097225	sperm midpiece	IEA	cellular component
GO:0097228	sperm principal piece	IEA	cellular component
GO:0030992	intraciliary transport particle B	ISS	cellular component
GO:0031514	motile cilium	ISS	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0007283	spermatogenesis	ISS	biological process
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

Diseases

Associated diseases	References
Short-rib thoracic dysplasia	KEGG:H02157
Short-rib thoracic dysplasia	KEGG:H02157
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray