1. Gene
  2. TTLL6 - tubulin tyrosine ligase like 6 Gene

TTLL6 - tubulin tyrosine ligase like 6 Gene

Homo sapiens

Also known as TTL.6

Gene ID: 284076 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
22246503 GOA
Cellular Component GO Annotation Evidence Reference 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
  • 600
  • 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