• Gene id: 79600

Gene Summary

• Gene Symbol: TCTN1   Gene   UCSC   Ensembl
• Aliases: JBTS13, TECT1
• Gene name: tectonic family member 1
• Alternate names: tectonic-1,
• Gene location: 12q24.11 (110614067: 110649429)     Exons: 19     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This protein is a component of the tectonic-like complex, w
• OMIM: 609863

Protein Summary

• Protein general information: Q2MV58  
  • Name: Tectonic 1
  • Length: 587  
  • Mass: 63570
• Sequence:

  MRPRGLPPLLVVLLGCWASVSAQTDATPAVTTEGLNSTEAALATFGTFPSTRPPGTPRAPGPSSGPRPTPVTDVA
  VLCVCDLSPAQCDINCCCDPDCSSVDFSVFSACSVPVVTGDSQFCSQKAVIYSLNFTANPPQRVFELVDQINPSI
  FCIHITNYKPALSFINPEVPDENNFDTLMKTSDGFTLNAESYVSFTTKLDIPTAAKYEYGVPLQTSDSFLRFPSS
  LTSSLCTDNNPAAFLVNQAVKCTRKINLEQCEEIEALSMAFYSSPEILRVPDSRKKVPITVQSIVIQSLNKTLTR
  REDTDVLQPTLVNAGHFSLCVNVVLEVKYSLTYTDAGEVTKADLSFVLGTVSSVVVPLQQKFEIHFLQENTQPVP
  LSGNPGYVVGLPLAAGFQPHKGSGIIQTTNRYGQLTILHSTTEQDCLALEGVRTPVLFGYTMQSGCKLRLTGALP
  CQLVAQKVKSLLWGQGFPDYVAPFGNSQAQDMLDWVPIHFITQSFNRKDSCQLPGALVIEVKWTKYGSLLNPQAK
  IVNVTANLISSSFPEANSGNERTILISTAVTFVDVSAPAEAGFRAPPAINARLPFNFFFPFV

• Structural information:
  • Interpro: IPR011677  IPR040354  
  • STRING: ENSP00000380779
• Other Databases: GeneCards:  TCTN1  Malacards:  TCTN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060271	cilium assembly	IBA	biological process
GO:0036038	MKS complex	IBA	cellular component
GO:1904491	protein localization to ciliary transition zone	IBA	biological process
GO:0060271	cilium assembly	ISS	biological process
GO:0036038	MKS complex	ISS	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005576	extracellular region	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:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0097711	ciliary basal body-plasma membrane docking	TAS	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0035869	ciliary transition zone	IEA	cellular component
GO:0021956	central nervous system interneuron axonogenesis	IEA	biological process
GO:0021904	dorsal/ventral neural tube patterning	IEA	biological process
GO:0021537	telencephalon development	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0001841	neural tube formation	IEA	biological process
GO:1904491	protein localization to ciliary transition zone	IEA	biological process
GO:0036038	MKS complex	IEA	cellular component
GO:0021523	somatic motor neuron differentiation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0008589	regulation of smoothened signaling pathway	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Joubert syndrome	KEGG:H00530
Joubert syndrome	KEGG:H00530
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)