TEKT1 (tektin 1)

Gene

• Entrez ID: 83659
• Gene name: Tektin 1
• Gene symbol: TEKT1
• Synonyms (NCBI Gene): -
• Chromosome: 17
• Chromosome location: 17p13.1
• Summary: This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This gene is predominantly expressed in the testis and in mou

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017741	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 26871637, 30886144, 32296183
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005879	Component	Axonemal microtubule	IDA	36191189
GO:0005879	Component	Axonemal microtubule	ISS
GO:0005929	Component	Cilium	IEA
GO:0015630	Component	Microtubule cytoskeleton	IBA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	IEA
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060294	Process	Cilium movement involved in cell motility	IBA
GO:0060294	Process	Cilium movement involved in cell motility	IEA
GO:0160111	Component	Axonemal A tubule inner sheath	IEA
GO:0160111	Component	Axonemal A tubule inner sheath	ISS

Other IDs

• MIM: 609002
• HGNC: 15534
• e!Ensembl: ENSG00000167858

Protein

• UniProt ID: Q969V4
• Protein name: Tektin-1
• Protein function: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia and flagellar axoneme. Forms filamentous polymers in the walls of ciliary and flagellar microtubules.
• PDB: 7UNG, 8J07
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03148	Tektin	16 → 398		Family

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in testis. Expressed in airway epithelial cells (PubMed:36191189). {ECO:0000269|PubMed:11606253, ECO:0000269|PubMed:36191189}.
• Sequence:

  MAKLLQPPPKFLPSEWHIANKNQYHRADAQRSRSERLVAESQRLVDEIEKTTRKSQSDVN
  KKLEQRLEEVQFWKKELDDKLEQLVNVTDDLLIYKIRLEKALETLKEPLHITETCLAYRE
  KRIGIDLVHDTVEHELIKEAEIIQGIMALLTRTLEEASEQIRMNRSAKYNLEKDLKDKFV
  ALTIDDICFSLNNNSPNIRYSENAVRIEPNSVSLEDWLDFSSTNVEKADKQRNNSLMLKA
  LVDRILSQTANDLRKQCDVVDTAFKNGLKDTKDARDKLADHLAKVMEEIASQEKNITALE
  KAILDQEGPAKVAHTRLETRTHRPNVELCRDVAQYRLMKEVQEITHNVARLKETLAQAQA
  ELKGLHRRQLALQEEIQVKENTIYIDEVLCMQMRKSIPLRDGEDHGVWAGGLRPDAVC

• Sequence length: 418

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
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPITUITARISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CILIARY DYSKINESIA	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TEKT1-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ciliopathies	Ciliopathies	BEFREE	29121203		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	39794059	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	20442750		★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	BEFREE	29121203		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32045668	Associate	★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	29121203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations