• Gene id: 284076

Gene Summary

• Gene Symbol: TTLL6   Gene   UCSC   Ensembl
• Aliases: TTL.6
• Gene name: tubulin tyrosine ligase like 6
• Alternate names: tubulin polyglutamylase TTLL6, tubulin tyrosine ligase-like family member 6, tubulin--tyrosine ligase-like protein 6,
• Gene location: 17q21.32 (48817246: 48762230)     Exons: 9     NC_000017.11
• OMIM: 610849

Protein Summary

• Protein general information: Q8N841  
  • Name: Tubulin polyglutamylase TTLL6 (EC 6. . . ) (Tubulin tyrosine ligase like protein 6)
  • Length: 843  
  • Mass: 96401
• Sequence:

  MPQCPTLESQEGENSEEKGDSSKEDPKETVALAFVRENPGAQNGLQNAQQQGKKKRKKKRLVINLSSCRYESVRR
  AAQQYGFREGGEDDDWTLYWTDYSVSLERVMEMKSYQKINHFPGMSEICRKDLLARNMSRMLKMFPKDFRFFPRT
  WCLPADWGDLQTYSRSRKNKTYICKPDSGCQGKGIFITRTVKEIKPGEDMICQLYISKPFIIDGFKFDLRIYVLV
  TSCDPLRIFVYNEGLARFATTSYSRPCTDNLDDICMHLTNYSINKHSSNFSRDAHSGSKRKLSTFSAYLEDHSYN
  VEQIWRDIEDVIIKTLISAHPIIRHNYHTCFPNHTLNSACFEILGFDILLDHKLKPWLLEVNHSPSFSTDSRLDK
  EVKDGLLYDTLVLINLESCDKKKVLEEERQRGQFLQQCCSREMRIEEAKGFRAVQLKKTETYEKENCGGFRLIYP
  SLNSEKYEKFFQDNNSLFQNTVASRAREEYARQLIQELRLKREKKPFQMKKKVEMQGESAGEQVRKKGMRGWQQK
  QQQKDKAATQASKQYIQPLTLVSYTPDLLLSVRGERKNETDSSLNQEAPTEEASSVFPKLTSAKPFSSLPDLRNI
  NLSSSKLEPSKPNFSIKEAKSASAVNVFTGTVHLTSVETTPESTTQLSISPKSPPTLAVTASSEYSGPETDRVVS
  FKCKKQQTPPHLTQKKMLKSFLPTKSKSFWESPNTNWTLLKSDMNKPHLISELLTKLQLSGKLSFFPAHYNPKLG
  MNNLSQNPSLPGECHSRSDSSGEKRQLDVSSLLLQSPQSYNVTLRDLLVIATPAQLDPRPCRSHASAMRDPCMQD
  QEAYSHCLISGQKGCERS

• Structural information:
  • Protein Domains: (58..40-)
    (/note="TTL-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00568"-)
  • Interpro: IPR013815  IPR004344  IPR027754  
  • Prosite: PS51221
  • STRING: ENSP00000377043
• Other Databases: GeneCards:  TTLL6  Malacards:  TTLL6

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:0036064	ciliary basal body	IDA	cellular component
GO:0018095	protein polyglutamylation	ISS	biological process
GO:0015631	tubulin binding	ISS	molecular function
GO:0018095	protein polyglutamylation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0070739	protein-glutamic acid ligase activity	ISS	molecular function
GO:0006464	cellular protein modification process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0016874	ligase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0018095	protein polyglutamylation	TAS	biological process
GO:0097731	9+0 non-motile cilium	IEA	cellular component
GO:0036064	ciliary basal body	IEA	cellular component
GO:0018095	protein polyglutamylation	IEA	biological process
GO:0015631	tubulin binding	IEA	molecular function
GO:0003353	positive regulation of cilium movement	IEA	biological process
GO:0070739	protein-glutamic acid ligase activity	IEA	molecular function
GO:0051013	microtubule severing	IEA	biological process
GO:0001578	microtubule bundle formation	IEA	biological process
GO:0005929	cilium	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray