TTLL6 - tubulin tyrosine ligase like 6 Gene

Also Known as TTL.6

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 284076

About TTLL6

Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:48,762,234-48,817,229 (from NCBI)

This gene has 9 transcripts (splice variants), 120 orthologues and 12 paralogues. Biased expression in testis (RPKM 10.4), colon (RPKM 1.9) and 5 other tissues.

Summary

Predicted to enable tubulin binding activity and tubulin-glutamic acid Ligase activity. Predicted to be involved in microtubule Cytoskeleton organization and protein polyglutamylation. Predicted to act upstream of or within microtubule bundle formation; microtubule severing; and positive regulation of cilium movement. Located in ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022]

TTLL6 Products (3)

mRNA Protein Name
NM_001130918.3 NP_001124390.1 tubulin polyglutamylase TTLL6 isoform 1
NM_001366314.2 NP_001353243.1 tubulin polyglutamylase TTLL6 isoform 3
NM_173623.4 NP_775894.2 tubulin polyglutamylase TTLL6 isoform 2
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
22246503 GOA
Cellular Component GO Annotation Evidence References Source
located in ciliary basal body IDA
IDA: Inferred from direct assay
22246503 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TTLL6 Protein Structure

TTL

TTL: Tubulin-tyrosine ligase family (155 - 435)

  • 0
  • 200
  • 400
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  • 800
  • 891 a.a.
Protein Preferred Names Protein Names

tubulin polyglutamylase TTLL6

  • protein polyglutamylase TTLL6

Related Diseases

Diseases Alias
Joubert Syndrome 33
  • JBTS33

  • Joubert Syndrome, Type 33

Joubert Syndrome 15
  • JBTS15

  • Joubert Syndrome, Type 15

Joubert Syndrome 1
  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome

Primary Ciliary Dyskinesia
  • Immotile Cilia Syndrome

  • Kartagener Syndrome

  • Dextrocardia Bronchiectasis And Sinusitis

  • Pcd

  • Ciliary Motility Disorders

  • Ciliary Motility Disorder

  • Immotile Ciliary Syndrome

  • Ciliary Dyskinesia Primary

  • Ics

  • Polynesian Bronchiectasis

  • Dextrocardia-Bronchiectasis-Sinusitis Syndrome

  • Immotile Cilia Syndrome, Kartagener Type

  • Primary Ciliary Dyskinesia And Situs Inversus

  • Primary Ciliary Dyskinesia, Kartagener Type

  • Siewert Syndrome

  • Dyskinesia, Ciliary, Primary

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus TTLL6 VGNC VGNC:36494
Rattus norvegicus TTLL6 RGD RGD:1311922
Canis familiaris TTLL6 VGNC VGNC:47977
Felis catus TTLL6 VGNC VGNC:66688
Macaca mulatta TTLL6 VGNC VGNC:79632
Mus musculus TTLL6 MGD MGI:2683461