• Gene id: 150465

Gene Summary

• Gene Symbol: TTL   Gene   UCSC   Ensembl
• Gene name: tubulin tyrosine ligase
• Alternate names: tubulin--tyrosine ligase, 2410003M22Rik,
• Gene location: 2q14.1 (112482126: 112541738)     Exons: 23     NC_000002.12
• Gene summary(Entrez): TTL is a cytosolic enzyme involved in the posttranslational modification of alpha-tubulin (see MIM 602529). Alpha-tubulin within assembled microtubules is detyrosinated over time at the C terminus. After microtubule disassembly, TTL restores the tyrosine
• OMIM: 608291

Protein Summary

• Protein general information: Q8NG68  
  • Name: Tubulin tyrosine ligase (TTL) (EC 6.3.2.25)
  • Length: 377  
  • Mass: 43212
• Sequence:

  MYTFVVRDENSSVYAEVSRLLLATGHWKRLRRDNPRFNLMLGERNRLPFGRLGHEPGLVQLVNYYRGADKLCRKA
  SLVKLIKTSPELAESCTWFPESYVIYPTNLKTPVAPAQNGIQPPISNSRTDEREFFLASYNRKKEDGEGNVWIAK
  SSAGAKGEGILISSEASELLDFIDNQGQVHVIQKYLEHPLLLEPGHRKFDIRSWVLVDHQYNIYLYREGVLRTAS
  EPYHVDNFQDKTCHLTNHCIQKEYSKNYGKYEEGNEMFFKEFNQYLTSALNITLESSILLQIKHIIRNCLLSVEP
  AISTKHLPYQSFQLFGFDFMVDEELKVWLIEVNGAPACAQKLYAELCQGIVDIAISSVFPPPDVEQPQTQPAAFI
  KL

• Structural information:
  • Protein Domains: (3..37-)
    (/note="TTL-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00568"-)
  • Interpro: IPR004344  
  • Prosite: PS51221
  • STRING: ENSP00000233336
• Other Databases: GeneCards:  TTL  Malacards:  TTL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006464	cellular protein modification process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0004835	tubulin-tyrosine ligase activity	IEA	molecular function
GO:0004835	tubulin-tyrosine ligase activity	IEA	molecular function
GO:0000226	microtubule cytoskeleton organization	IEA	biological process
GO:0030516	regulation of axon extension	IEA	biological process
GO:0018166	C-terminal protein-tyrosinylation	IMP	biological process
GO:0005623	obsolete cell	IMP	cellular component
GO:0045931	positive regulation of mitotic cell cycle	IMP	biological process
GO:0090235	regulation of metaphase plate congression	IMP	biological process
GO:0004835	tubulin-tyrosine ligase activity	IMP	molecular function

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
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)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray