• Gene id: 25809

Gene Summary

• Gene Symbol: TTLL1   Gene   UCSC   Ensembl
• Aliases: C22orf7, HS323M22B
• Gene name: tubulin tyrosine ligase like 1
• Alternate names: probable tubulin polyglutamylase TTLL1, PGs3, catalytic subunit of neural tubulin polyglutamylase, tubulin polyglutamylase complex subunit 3, tubulin tyrosine ligase-like family, member 1, tubulin--tyrosine ligase-like protein 1, tubulin-tyrosine ligase,
• Gene location: 22q13.2 (43089427: 43039515)     Exons: 14     NC_000022.11
• OMIM: 608955

Protein Summary

• Protein general information: O95922  
  • Name: Probable tubulin polyglutamylase TTLL1 (EC 6. . . ) (Tubulin polyglutamylase complex subunit 3) (PGs3) (Tubulin tyrosine ligase like protein 1)
  • Length: 423  
  • Mass: 48988
  • Tissue specificity: Expressed in a wide range of tissues. Has a stronger expression in heart, brain and testis. {ECO
• Sequence:

  MAGKVKWVTDIEKSVLINNFEKRGWVQVTENEDWNFYWMSVQTIRNVFSVEAGYRLSDDQIVNHFPNHYELTRKD
  LMVKNIKRYRKELEKEGSPLAEKDENGKYLYLDFVPVTYMLPADYNLFVEEFRKSPSSTWIMKPCGKAQGKGIFL
  INKLSQIKKWSRDSKTSSFVSQSNKEAYVISLYINNPLLIGGRKFDLRLYVLVSTYRPLRCYMYKLGFCRFCTVK
  YTPSTSELDNMFVHLTNVAIQKHGEDYNHIHGGKWTVSNLRLYLESTRGKEVTSKLFDEIHWIIVQSLKAVAPVM
  NNDKHCFECYGYDIIIDDKLKPWLIEVNASPSLTSSTANDRILKYNLINDTLNIAVPNGEIPDCKWNKSPPKEVL
  GNYEILYDEELAQGDGADRELRSRQGQSLGPRAGRSRDSGRAVLTTWK

• Structural information:
  • Protein Domains: (1..36-)
    (/note="TTL-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00568"-)
  • Interpro: IPR013815  IPR004344  IPR027750  
  • Prosite: PS51221
  • STRING: ENSP00000266254
• Other Databases: GeneCards:  TTLL1  Malacards:  TTLL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015631	tubulin binding	IBA	molecular function
GO:0018095	protein polyglutamylation	IBA	biological process
GO:0070740	tubulin-glutamic acid ligase activity	IBA	molecular function
GO:0000226	microtubule cytoskeleton organization	IBA	biological process
GO:0005929	cilium	IBA	cellular component
GO:0070740	tubulin-glutamic acid ligase activity	TAS	molecular function
GO:0018095	protein polyglutamylation	TAS	biological process
GO:0006464	cellular protein modification process	IEA	biological process
GO:0018095	protein polyglutamylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005874	microtubule	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016874	ligase activity	IEA	molecular function
GO:0070740	tubulin-glutamic acid ligase activity	IEA	molecular function
GO:0036064	ciliary basal body	IEA	cellular component
GO:0018095	protein polyglutamylation	IEA	biological process
GO:0007288	sperm axoneme assembly	IEA	biological process
GO:0003351	epithelial cilium movement involved in extracellular fluid movement	IEA	biological process
GO:0035082	axoneme assembly	IEA	biological process
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0021702	cerebellar Purkinje cell differentiation	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq