TTLL3 (tubulin tyrosine ligase like 3)

Gene

• Entrez ID: 26140
• Gene name: Tubulin tyrosine ligase like 3
• Gene symbol: TTLL3
• Synonyms (NCBI Gene): HOTTL
• Chromosome: 3
• Chromosome location: 3p25.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022524	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT1462396	hsa-miR-1912	CLIP-seq
MIRT1462397	hsa-miR-3130-5p	CLIP-seq
MIRT1462398	hsa-miR-3607-3p	CLIP-seq
MIRT1462399	hsa-miR-3686	CLIP-seq
MIRT1462400	hsa-miR-3934	CLIP-seq
MIRT1462401	hsa-miR-3942-3p	CLIP-seq
MIRT1462402	hsa-miR-4328	CLIP-seq
MIRT1462403	hsa-miR-4482	CLIP-seq
MIRT1462404	hsa-miR-4494	CLIP-seq
MIRT1462405	hsa-miR-4659a-3p	CLIP-seq
MIRT1462406	hsa-miR-4659b-3p	CLIP-seq
MIRT1462407	hsa-miR-499a-5p	CLIP-seq
MIRT1462408	hsa-miR-552	CLIP-seq
MIRT1462400	hsa-miR-3934	CLIP-seq
MIRT2139081	hsa-miR-4740-3p	CLIP-seq
MIRT1462408	hsa-miR-552	CLIP-seq
MIRT2359801	hsa-miR-1283	CLIP-seq
MIRT1462396	hsa-miR-1912	CLIP-seq
MIRT2359802	hsa-miR-1915	CLIP-seq
MIRT2359803	hsa-miR-24	CLIP-seq
MIRT1462397	hsa-miR-3130-5p	CLIP-seq
MIRT2359804	hsa-miR-3155	CLIP-seq
MIRT2359805	hsa-miR-3155b	CLIP-seq
MIRT1462400	hsa-miR-3934	CLIP-seq
MIRT2359806	hsa-miR-4432	CLIP-seq
MIRT1462403	hsa-miR-4482	CLIP-seq
MIRT2359807	hsa-miR-4726-3p	CLIP-seq
MIRT2359808	hsa-miR-484	CLIP-seq
MIRT2359809	hsa-miR-500a	CLIP-seq
MIRT2359810	hsa-miR-520d-5p	CLIP-seq
MIRT2359811	hsa-miR-524-5p	CLIP-seq
MIRT2359812	hsa-miR-548u	CLIP-seq
MIRT1462408	hsa-miR-552	CLIP-seq
MIRT1462398	hsa-miR-3607-3p	CLIP-seq
MIRT1462399	hsa-miR-3686	CLIP-seq
MIRT1462402	hsa-miR-4328	CLIP-seq
MIRT1462404	hsa-miR-4494	CLIP-seq
MIRT1462405	hsa-miR-4659a-3p	CLIP-seq
MIRT1462406	hsa-miR-4659b-3p	CLIP-seq
MIRT1462407	hsa-miR-499a-5p	CLIP-seq
MIRT2694461	hsa-miR-1227	CLIP-seq
MIRT2694462	hsa-miR-3117-3p	CLIP-seq
MIRT2694463	hsa-miR-3169	CLIP-seq
MIRT2694464	hsa-miR-3650	CLIP-seq
MIRT1462400	hsa-miR-3934	CLIP-seq
MIRT2694465	hsa-miR-4715-3p	CLIP-seq
MIRT2694466	hsa-miR-4735-5p	CLIP-seq
MIRT2694467	hsa-miR-4759	CLIP-seq
MIRT2694468	hsa-miR-4775	CLIP-seq
MIRT1462408	hsa-miR-552	CLIP-seq
MIRT2694469	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	ISS
GO:0007283	Process	Spermatogenesis	IBA
GO:0015630	Component	Microtubule cytoskeleton	IBA
GO:0015630	Component	Microtubule cytoskeleton	ISS
GO:0016874	Function	Ligase activity	IEA
GO:0018094	Process	Protein polyglycylation	IDA	19524510
GO:0030317	Process	Flagellated sperm motility	IBA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031514	Component	Motile cilium	IEA
GO:0035082	Process	Axoneme assembly	IBA
GO:0035082	Process	Axoneme assembly	ISS
GO:0036126	Component	Sperm flagellum	IBA
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:0070735	Function	Protein-glycine ligase activity	IDA	19524510
GO:0070735	Function	Protein-glycine ligase activity	IEA
GO:0070735	Function	Protein-glycine ligase activity	TAS
GO:0070736	Function	Protein-glycine ligase activity, initiating	IBA
GO:0070736	Function	Protein-glycine ligase activity, initiating	ISS

Other IDs

• MIM: 619195
• HGNC: 24483
• e!Ensembl: ENSG00000214021

Protein

• UniProt ID: Q9Y4R7
• Protein name: Tubulin monoglycylase TTLL3 (EC 6.3.2.-) (HOTTL) (Tubulin--tyrosine ligase-like protein 3)
• Protein function: Monoglycylase which modifies alpha- and beta-tubulin, adding a single glycine on the gamma-carboxyl groups of specific glutamate residues to generate monoglycine side chains within the C-terminal tail of tubulin. Not involved in elongation step
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03133	TTL	213 → 505	Tubulin-tyrosine ligase family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, heart, kidney, testis, liver, lung, muscle, spleen, trachea and colon. {ECO:0000269|PubMed:25180231}.
• Sequence:

  MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLD
  SSAMGDSDTTEDEDEDEDEEFQPSQLFDFDDLLKFDDLDGTHALMVGLCLNLRNLPWFDE
  VDANSFFPRCYCLGAEDDKKAFIEDFWLTAARNVLKLVVKSEWKSYPIQAVEEEASGDKQ
  PKKQEKNPVLVSPEFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQV
  VHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDRNIWIVKPGAKSRGRGIMCMDHLE
  EMLKLVNGNPVVMKDGKWVVQKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWFYRDSYIR
  FSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAPNAW
  STIIVPGMKDAVIHALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINASPTMAPST
  AVTARLCAGVQADTLRVVIDRMLDRNCDTGAFELIYKQPAVEVPQYVGIRLLVEGFTIKK
  PMAMCHRRMGVRPAVPLLTQRGSGEARHHFPSLHTKAQLPSPHVLRHQGQVLRRQHSKLV
  GTKALSTTGKALRTLPTAKVFISLPPNLDFKVAPSILKPRKAPALLCLRGPQLEVPCCLC
  PLKSEQFLAPVGRSRPKANSRPDCDKPRAEACPMKRLSPLKPLPLVGTFQRRRGLGDMKL
  GKPLLRFPTALVLDPTPNKKKQVKYLGLDSIAVGGSRVDGARPCTPGSTARA

• Sequence length: 772

Pathways

Reactome:

Carboxyterminal post-translational modifications of tubulin

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
OCULAR HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Persistent Fetal Circulation Syndrome	Associate	32054482	★☆☆☆☆ Found in Text Mining only