• Gene id: 79739

Gene Summary

• Gene Symbol: TTLL7   Gene   UCSC   Ensembl
• Gene name: tubulin tyrosine ligase like 7
• Alternate names: tubulin polyglutamylase TTLL7, testis development protein NYD-SP30, tubulin tyrosine ligase-like family, member 7, tubulin--tyrosine ligase-like protein 7,
• Gene location: 1p31.1 (173824672: 173858545)     Exons: 18     NC_000001.11
• OMIM: 618813

Protein Summary

• Protein general information: Q6ZT98  
  • Name: Tubulin polyglutamylase TTLL7 (EC 6. . . ) (Testis development protein NYD SP30) (Tubulin tyrosine ligase like protein 7)
  • Length: 887  
  • Mass: 102999
  • Tissue specificity: Highly expressed in the nervous system including spinal cord, thalamus, hippocampus, hypothalamus and cerebellum. {ECO
• Sequence:

  MPSLPQEGVIQGPSPLDLNTELPYQSTMKRKVRKKKKKGTITANVAGTKFEIVRLVIDEMGFMKTPDEDETSNLI
  WCDSAVQQEKISELQNYQRINHFPGMGEICRKDFLARNMTKMIKSRPLDYTFVPRTWIFPAEYTQFQNYVKELKK
  KRKQKTFIVKPANGAMGHGISLIRNGDKLPSQDHLIVQEYIEKPFLMEGYKFDLRIYILVTSCDPLKIFLYHDGL
  VRMGTEKYIPPNESNLTQLYMHLTNYSVNKHNEHFERDETENKGSKRSIKWFTEFLQANQHDVAKFWSDISELVV
  KTLIVAEPHVLHAYRMCRPGQPPGSESVCFEVLGFDILLDRKLKPWLLEINRAPSFGTDQKIDYDVKRGVLLNAL
  KLLNIRTSDKRRNLAKQKAEAQRRLYGQNSIKRLLPGSSDWEQQRHQLERRKEELKERLAQVRKQISREEHENRH
  MGNYRRIYPPEDKALLEKYENLLAVAFQTFLSGRAASFQRELNNPLKRMKEEDILDLLEQCEIDDEKLMGKTTKT
  RGPKPLCSMPESTEIMKRPKYCSSDSSYDSSSSSSESDENEKEEYQNKKREKQVTYNLKPSNHYKLIQQPSSIRR
  SVSCPRSISAQSPSSGDTRPFSAQQMISVSRPTSASRSHSLNRASSYMRHLPHSNDACSTNSQVSESLRQLKTKE
  QEDDLTSQTLFVLKDMKIRFPGKSDAESELLIEDIIDNWKYHKTKVASYWLIKLDSVKQRKVLDIVKTSIRTVLP
  RIWKVPDVEEVNLYRIFNRVFNRLLWSRGQGLWNCFCDSGSSWESIFNKSPEVVTPLQLQCCQRLVELCKQCLLV
  VYKYATDKRGSLSGIGPDWGNSRYLLPGSTQFFLRTPTYNLKYNSPGMTRSNVLFTSRYGHL

• Structural information:
  • Protein Domains: (38..39-)
    (/note="TTL-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00568"-)
  • Interpro: IPR013815  IPR004344  
  • Prosite: PS51221
  • PDB: 4YLR 4YLS
  • PDBsum: 4YLR 4YLS
  • STRING: ENSP00000260505
• Other Databases: GeneCards:  TTLL7  Malacards:  TTLL7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000226	microtubule cytoskeleton organization	IBA	biological process
GO:0005929	cilium	IBA	cellular component
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:0018095	protein polyglutamylation	IDA	biological process
GO:0070740	tubulin-glutamic acid ligase activity	IDA	molecular function
GO:0043014	alpha-tubulin binding	IDA	molecular function
GO:0048487	beta-tubulin binding	IDA	molecular function
GO:0006464	cellular protein modification process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0016874	ligase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0018095	protein polyglutamylation	TAS	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray