1. Gene
  2. TUBB6 - tubulin beta 6 class V Gene

TUBB6 - tubulin beta 6 class V Gene

中文名称:微管蛋白 6 V 类

种属: Homo sapiens

同用名: FPVEPD; TUBB-5; HsT1601

基因 ID: 84617 | 基因类型: protein coding

关于 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.

功能概要

预计启用 GTP 绑定活动。预计是细胞骨架的结构成分。预计参与微管细胞骨架组织和有丝分裂细胞周期。位于微管中。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
24275654 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in microtubule IDA
IDA: 通过直接分析推断
21525035 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TUBB6 蛋白结构

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.
蛋白主名 其他名称

tubulin beta-6 chain

class V beta-tubulin

TUBB6 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
TUBB6 Q9BUF5 KIF1B Homo sapiens O60333-2 32814053
种属内
TUBB6 Q9BUF5 KIF1B Homo sapiens O60333-2 32814053
种属内
TUBB6 Q9BUF5 KIF1B Homo sapiens O60333-2 32814053
种属内
TUBB6 Q9BUF5 HSPB1 Homo sapiens P04792 32814053
种属内
TUBB6 Q9BUF5 HSPB1 Homo sapiens P04792 32814053
种属内
TUBB6 Q9BUF5 HSPB1 Homo sapiens P04792 32814053
种属内
TUBB6 Q9BUF5 LRRK2 Homo sapiens Q5S007
Y2H
24275654
种属内
TUBB6 Q9BUF5 WFS1 Homo sapiens O76024 32814053
种属内
TUBB6 Q9BUF5 WFS1 Homo sapiens O76024 32814053
种属内
TUBB6 Q9BUF5 WFS1 Homo sapiens O76024 32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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