TEDC1 (tubulin epsilon and delta complex 1)

Gene

• Entrez ID: 283643
• Gene name: Tubulin epsilon and delta complex 1
• Gene symbol: TEDC1
• Synonyms (NCBI Gene): C14orf80
• Chromosome: 14
• Chromosome location: 14q32.33

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT718391	hsa-miR-1911-3p	HITS-CLIP	19536157
MIRT718390	hsa-miR-5582-5p	HITS-CLIP	19536157
MIRT718389	hsa-miR-4733-3p	HITS-CLIP	19536157
MIRT718388	hsa-miR-4269	HITS-CLIP	19536157
MIRT718387	hsa-miR-6715b-5p	HITS-CLIP	19536157
MIRT718386	hsa-miR-4645-5p	HITS-CLIP	19536157
MIRT718385	hsa-miR-4673	HITS-CLIP	19536157
MIRT718384	hsa-miR-212-5p	HITS-CLIP	19536157
MIRT718383	hsa-miR-4743-5p	HITS-CLIP	19536157
MIRT718382	hsa-miR-6722-5p	HITS-CLIP	19536157

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	18330356, 20562859, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005814	Component	Centriole	IEA
GO:0005814	Component	Centriole	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0042995	Component	Cell projection	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	ISS

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q86SX3
• Protein name: Tubulin epsilon and delta complex protein 1
• Protein function: Acts as a positive regulator of ciliary hedgehog signaling. Required for centriole stability (By similarity). May play a role in counteracting perturbation of actin filaments, such as after treatment with the actin depolymerizing microbial metab
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14970	DUF4509	45 → 227	Domain of unknown function (DUF4509)	Family
  PF14971	DUF4510	333 → 493	Domain of unknown function (DUF4510)	Family

• Sequence:

  MGRRRQRVDPAAGARAGALPEAIAALSRSLPSGPSPEIFRRAKFDRPEATSALWQLLFRV
  LSPLPAGNALASLALEVQARLVKSALCSQGYPRLALAQLPEDGSQGSRELLLALSWLLAR
  GPVPEQMLAQARVPLGDEMTVCQCEALASPGPPAPHMEAEGPVDVRHVQWLMGKLRFRWR
  QLVSSQQEQCALLSKIHLYTRGCHSDQSLSHLSVTEAEMLRDPEGGQQVSGAGAAQNLDL
  AYPKCLHSFCTPGMGPRTFWNDLWLVCEQPGLLPGDWAAPLDPGGASACSLLSPFRALLR
  TLERENQRLEAVLAWRRSELVFWRWMDTVLGTCAPEVPAAASQPTFLPWVPERGGGELDL
  VVRELQALEEELREAAERRRAAWEAKAGGCGRGPEWSAARRASREAVEKELGALQQCWER
  DGGPAQPHGPHRLVRREDGAAGDRDLRAAVVIRTLRSQEACLEAVLRRLQGQCRQELARL
  VGARPGLIWIPPPGR

• Sequence length: 495

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations