TUBB6 - tubulin beta 6 class V Gene

Also Known as FPVEPD; TUBB-5; HsT1601

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84617

About TUBB6

Cytogenetic location: 18p11.21 Genomic coordinates (GRCh38): 18:12,307,669-12,329,826 (from NCBI)

This gene has 14 transcripts (splice variants), 140 orthologues, 23 paralogues and is associated with 1 phenotype. Ubiquitous expression in fat (RPKM 41.4), esophagus (RPKM 38.3) and 25 other tissues.

Summary

Predicted to enable GTP binding activity. Predicted to be a structural constituent of Cytoskeleton. Predicted to be involved in microtubule Cytoskeleton organization and mitotic cell cycle. Located in microtubule. [provided by Alliance of Genome Resources, Apr 2022]

TUBB6 Products (8)

mRNA Protein Name
NM_001303524.1 NP_001290453.1 tubulin beta-6 chain isoform 1
NM_001303525.2 NP_001290454.1 tubulin beta-6 chain isoform 2
NM_001303526.2 NP_001290455.1 tubulin beta-6 chain isoform 3
NM_001303527.2 NP_001290456.1 tubulin beta-6 chain isoform 4
NM_001303528.2 NP_001290457.1 tubulin beta-6 chain isoform 5
NM_001303529.3 NP_001290458.1 tubulin beta-6 chain isoform 6
NM_001303530.3 NP_001290459.1 tubulin beta-6 chain isoform 6
NM_032525.3 NP_115914.1 tubulin beta-6 chain isoform 1

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
24275654 GOA
Cellular Component GO Annotation Evidence References Source
located in microtubule IDA
IDA: Inferred from direct assay
21525035 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

TUBB6 Protein Structure

Tubulin

Tubulin: Tubulin/FtsZ family, GTPase domain (3 - 222)

Tubulin_C

Tubulin_C: Tubulin C-terminal domain (261 - 382)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 446 a.a.
Protein Preferred Names Protein Names

tubulin beta-6 chain

  • class V beta-tubulin

TUBB6 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TUBB6 Q9BUF5 KIF1B Homo sapiens O60333-2
Y2H Array
32814053
Intra
TUBB6 Q9BUF5 KIF1B Homo sapiens O60333-2
Validated Y2H
32814053
Intra
TUBB6 Q9BUF5 KIF1B Homo sapiens O60333-2
Y2H Pooling
32814053
Intra
TUBB6 Q9BUF5 HSPB1 Homo sapiens P04792
Y2H Pooling
32814053
Intra
TUBB6 Q9BUF5 HSPB1 Homo sapiens P04792
Validated Y2H
32814053
Intra
TUBB6 Q9BUF5 HSPB1 Homo sapiens P04792
Y2H Array
32814053
Intra
TUBB6 Q9BUF5 LRRK2 Homo sapiens Q5S007
Y2H
24275654
Intra
TUBB6 Q9BUF5 WFS1 Homo sapiens O76024
Validated Y2H
32814053
Intra
TUBB6 Q9BUF5 WFS1 Homo sapiens O76024
Y2H Pooling
32814053
Intra
TUBB6 Q9BUF5 WFS1 Homo sapiens O76024
Y2H Array
32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction

  • FPVEPD
3-Methylglutaconic Aciduria, Type Iii

  • Optic Atrophy

  • 3-Methylglutaconic Aciduria Type 3

  • Costeff Syndrome

  • Mga3

  • Costeff Optic Atrophy Syndrome

  • Optic Atrophy Plus Syndrome

  • Infantile Optic Atrophy With Chorea And Spastic Paraplegia

  • 3-Methylglutaconic Aciduria Type Iii

  • Autosomal Recessive Optic Atrophy Plus Syndrome

  • Autosomal Recessive Optic Atrophy Type 3

  • Opa3 Defect

  • MGCA3

  • Mga, Type Iii

  • Iraqi Jewish Optic Atrophy Plus

  • Mga Type Iii

  • Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

  • Iraqi-Jewish 'Optic Atrophy Plus'

  • Optic Atrophy 3, Autosomal Recessive

  • Opa3, Autosomal Recessive

  • Opa3-Related 3-Methylglutaconic Aciduria

  • Iraqi-Jewish Optic Atrophy Plus

  • Atrophy Of Optic Disc

  • 3-Alpha Methylglutaconic Aciduria Type Iii

  • Optic Atrophy 3

  • Optic Atrophy Infantile With Chorea And Spastic Paraplegia

  • Autosomal Recessive Opa3

  • Autosomal Recessive Optic Atrophy 3

  • 3-Methylglutaconic Aciduria 3

  • 3-Alpha-Methylglutaconic Aciduria Type 3

  • Optic Atrophy 3 Autosomal Recessive

  • Atrophy, Optic

  • Atrophy, Optic, Plus Syndrome

  • Optic Nerve Atrophy

  • Primary Optic Atrophy

  • Oa - [Optic Atrophy]

  • Second Cranial Nerve Atrophy

  • Second Cranium Nerve Atrophy
Tubulin, Beta
Ptosis

  • Blepharoptosis

  • Drooping Eyelid

  • Droopy Eyelid

  • Ptosis Of Eyelid

  • Paralysis Of Levator Palpebrae Superioris
Tubulinopathy

  • Tubulinopathies
Multiple Benign Circumferential Skin Creases On Limbs

  • Ccsf

  • Circumferential Skin Creases, Kunze Type

  • Congenital Circumferential Skin Folds

  • Kunze-Riehm Syndrome

  • Kunze Riehm Syndrome

  • Michelin Tire Baby Syndrome
Microlissencephaly
Nail Disorder, Nonsyndromic Congenital, 4

  • Anonychia Congenita

  • Anonychia

  • Hyponychia Congenita

  • NDNC4

  • Anonychia/Hyponychia Congenita

  • Nonsyndromic Congenital Nail Disorder 4

  • Isolated Congenital Anonychia

  • Anonychia Congenita Totalis

  • Anonychia Totalis

  • Autosomal Recessive Nonsyndromic Congenital Nail Disorder-4

  • Congenital Anonychia

  • Nonsyndromic Congenital Nail Disorder, 4

  • Absent Nails

  • Aplastic Nails

  • Congenital Absence Of Nails

  • Isolated Anonychia

  • Nail Disorder, Non-Syndromic Congenital, 4

  • Nail Disorder, Nonsyndromic, Congenital, Type 4
Congenital Fibrosis Of The Extraocular Muscles

  • Congenital Fibrosis Of Extraocular Muscles

  • Cfeom

  • Feom

  • Congenital External Ophthalmoplegia

  • Congenital Fibrosis Syndrome

  • General Fibrosis Syndrome
Nonsyndromic Congenital Nail Disorder

  • Nail Disorder, Nonsyndromic Congenital
Congenital Ptosis

  • Congenital Blepharoptosis

  • Congenital Eyelid Ptosis
Bardet-Biedl Syndrome 1

  • BBS1

  • Bardet-Biedl Syndrome 1, Modifier Of

  • Bardet-Biedl Syndrome

  • BBS

  • Bardet-Biedl Syndrome, Type 1

  • Laurence-Moon-Bardet-Biedl Syndrome
Congenital Nervous System Abnormality

  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS15257 TUBB6 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22888 Tubb6 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS29402 Tubb6 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta TUBB6 VGNC VGNC:104253
Felis catus TUBB6 VGNC VGNC:80542
Canis familiaris TUBB6 VGNC VGNC:47991
Rattus norvegicus TUBB6 RGD RGD:1305887
Bos taurus TUBB6 VGNC VGNC:36509
Mus musculus TUBB6 MGD MGI:1915201
Others TUBB6 NCBI