TUBB - tubulin beta class I Gene

Homo sapiens

Also known as M40; TUBB1; TUBB5; CDCBM6; CSCSC1; OK/SW-cl.56

Gene ID: 203068 | Gene type: protein coding

About TUBB

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:30,720,352-30,725,422 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 271 orthologues, 23 paralogues and is associated with 5 phenotypes. Ubiquitous expression in ovary (RPKM 250.9), bone marrow (RPKM 212.6) and 25 other tissues.

Summary

This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with Other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014]

TUBB Products(6)

mRNA	Protein	Name
NM_001293212.2	NP_001280141.1	tubulin beta chain isoform a
NM_001293213.2	NP_001280142.1	tubulin beta chain isoform c
NM_001293214.2	NP_001280143.1	tubulin beta chain isoform d
NM_001293215.2	NP_001280144.1	tubulin beta chain isoform e
NM_001293216.2	NP_001280145.1	tubulin beta chain isoform e
NM_178014.4	NP_821133.1	tubulin beta chain isoform b

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables MHC class I protein binding	IDA IDA: Inferred from direct assay	11120798	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16049941	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	21753002	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	23178297	GOA
located in cytoplasmic ribonucleoprotein granule	IDA IDA: Inferred from direct assay	15121898	GOA
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

TUBB Protein Structure

Tubulin

Tubulin_C

0
100
200
300
400
444 a.a.

Protein Preferred Names

Protein Names

tubulin beta chain

beta Ib tubulin

TUBB Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	TUBB	P07437	NEK7	Homo sapiens	Q8TDX7	Y2H Array	32814053
Intra	TUBB	P07437	NEK7	Homo sapiens	Q8TDX7	Y2H Pooling	32814053
Intra	TUBB	P07437	NEK7	Homo sapiens	Q8TDX7	Validated Y2H	32814053
Intra	TUBB	P07437	TUBA1A	Homo sapiens	Q71U36	Anti Tag CoIP	33961781
Intra	TUBB	P07437	TUBA1A	Homo sapiens	Q71U36	BiFC	30274285
Intra	TUBB	P07437	SQSTM1	Homo sapiens	Q13501	Validated Y2H	32814053
Intra	TUBB	P07437	SQSTM1	Homo sapiens	Q13501	Y2H Pooling	32814053
Intra	TUBB	P07437	SQSTM1	Homo sapiens	Q13501	Y2H Array	32814053
Intra	TUBB	P07437	SQSTM1	Homo sapiens	Q13501	Anti Tag CoIP	33961781
Intra	TUBB	P07437	DLST	Homo sapiens	P36957	Y2H Pooling	32814053
Intra	TUBB	P07437	DLST	Homo sapiens	P36957	Validated Y2H	32814053
Intra	TUBB	P07437	DLST	Homo sapiens	P36957	Y2H Array	32814053
Intra	TUBB	P07437	MAPT	Homo sapiens	P10636-8	BiFC	30274285
Intra	TUBB	P07437	TFF2	Homo sapiens	Q03403	Validated Y2H	32814053
Intra	TUBB	P07437	TFF2	Homo sapiens	Q03403	Y2H Array	32814053
Intra	TUBB	P07437	TFF2	Homo sapiens	Q03403	Y2H Pooling	32814053
Intra	TUBB	P07437	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	TUBB	P07437	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	TUBB	P07437	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	TUBB	P07437	LRRK2	Homo sapiens	Q5S007	Anti Tag CoIP	24275654
Intra	TUBB	P07437	FXR1	Homo sapiens	P51114	Y2H Pooling	21653829
Intra	TUBB	P07437	FXR1	Homo sapiens	P51114	Anti Tag CoIP	21653829
Intra	TUBB	P07437	NDUFV2	Homo sapiens	P19404	Y2H Array	32814053
Intra	TUBB	P07437	NDUFV2	Homo sapiens	P19404	Y2H Pooling	32814053
Intra	TUBB	P07437	NDUFV2	Homo sapiens	P19404	Validated Y2H	32814053
Intra	TUBB	P07437	NEDD8	Homo sapiens	Q15843	Y2H Array	32814053
Intra	TUBB	P07437	NEDD8	Homo sapiens	Q15843	Validated Y2H	32814053
Intra	TUBB	P07437	NEDD8	Homo sapiens	Q15843	Y2H Pooling	32814053
Intra	TUBB	P07437	TINF2	Homo sapiens	Q9BSI4	BiFC	21044950
Intra	TUBB	P07437	TINF2	Homo sapiens	Q9BSI4	Pull Down	21044950
Intra	TUBB	P07437	SNCA	Homo sapiens	P37840	Validated Y2H	32814053
Intra	TUBB	P07437	SNCA	Homo sapiens	P37840	Y2H Array	32814053
Intra	TUBB	P07437	SNCA	Homo sapiens	P37840	Y2H Pooling	32814053
Cross	TUBB	P07437	EBNA-LP	Epstein-Barr virus	Q8AZK7	Anti Bait CoIP	18457437

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Cortical Dysplasia, Complex, With Other Brain Malformations 6

Complex Cortical Dysplasia With Other Brain Malformations 6	CDCBM6
Cdcbm56	Dysplasia ,Cortical, Complex, With Other Brain Malformations, Type 6

Skin Creases, Congenital Symmetric Circumferential, 1

Michelin Tire Baby Syndrome	CSCSC1
Skin Creases, Multiple Benign Ring-Shaped, Of Limbs	Circumferential Skin Creases, Kunze Type
Congenital Symmetric Circumferential Skin Creases 1	Circumferential Skin Creases Kunze Type
Symmetric Circumferential Skin Creases, Congenital, 1	Csc-Kt
Multiple Benign Ring-Shaped Skin Creases Of Limbs	Michelin-Tire Baby

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

Tubulin, Beta

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Hydrocephalus, Congenital, 1

Hydrocephaly	Ventriculomegaly
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1	HYC1
Congenital Non-Communicating Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly
Congenital Obstructive Hydrocephalus	Hydrocephalus, Non-Syndromic, Autosomal Recessive 1
Hydrocephalus

Skin Creases, Congenital Symmetric Circumferential, 2

CSCSC2	Symmetric Circumferential Skin Creases, Congenital, 2
Congenital Symmetric Circumferential Skin Creases 2

Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Dementia, Familial British	Fbd
Presenile Dementia With Spastic Ataxia	Familial British Dementia
Abri Amyloidosis	Cerebral Amyloid Angiopathy, British Type
Itm2b-Related Cerebral Amyloid Angiopathy 1	Familial Dementia, British Type
Cerebral Amyloid Angiopathy, Itm2b-Related 1	CAA-ITM2B1
Cerebral Amyloid Angiopathy British Type	Dementia, Familial, British

Charcot-Marie-Tooth Disease, Axonal, Type 2k

Charcot-Marie-Tooth Disease Axonal Type 2k	CMT2K
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Arcmt2k
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2k	Autosomal Recessive Axonal Cmt4c4
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2k	Charcot-Marie-Tooth Neuropathy, Axonal, Type 2k
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2k	Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Disease Type 2k
Charcot-Marie-Tooth Neuropathy Axonal Type 2k	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2k
Charcot-Marie-Tooth Disease 2k	Charcot-Marie-Tooth Disease Neuronal Type 2k
Charcot-Marie-Tooth Neuropathy Type 2k	Charcot-Marie-Tooth Disease, Type 2k

Cerebellar Hypoplasia

Polymicrogyria

Pmg

Tubulinopathy

Tubulinopathies

Ganglioglioma

Childhood Ganglioglioma	Adult Ganglioglioma
Cns Ganglioglioma	Mixed Cell Tumors Containing Both Neural Ganglionic Cells And Neural Glial Cell Components

Ovarian Cancer

Ovarian Carcinoma	Ovarian Neoplasm
Malignant Tumour Of Ovary	Cancer Of The Ovary
Epithelial Ovarian Cancer	Neoplasm Of Ovary
Ovarian Neoplasms	Ovarian Cancers
Malignant Neoplasm Of Ovary	Primary Malignant Neoplasm Of Ovary
Ovarian Cancer, Somatic	Malignant Ovarian Tumor
Ovary Neoplasm	Primary Ovarian Cancer
Tumor Of The Ovary	Malignant Neoplasm Of The Ovary
Malignant Tumor Of The Ovary	Ovarian Malignant Tumor
OC	Ovarian Carcinomas
Cancer, Ovarian	Cancer Of Ovary
Ovary Cancer	Ca Ovary

Lung Cancer

Lung Carcinoma	Non-Small Cell Lung Carcinoma
Lung Cancer, Susceptibility To	Lung Cancer, Protection Against
Adenocarcinoma Of Lung, Somatic	Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
Nonsmall Cell Lung Cancer	Lung Neoplasm
Carcinoma Of Lung	Lung Non-Small Cell Carcinoma
Non-Small Cell Lung Cancer	Nsclc
Lung Neoplasms	Malignant Neoplasm Of Lung
Alveolar Cell Carcinoma	Nonsmall Cell Lung Cancer, Somatic
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In	Nonsmall Cell Lung Cancer, Susceptibility To
Lung Cancer, Somatic	Lung Cancer, Resistance To
Cancer Of Lung	Cancer Of Bronchus
Cancer Of The Lung	Lung Malignancies
Lung Malignant Tumors	Malignant Lung Tumor
Malignant Tumor Of Lung	Pulmonary Cancer
Pulmonary Carcinoma	Pulmonary Neoplasms
Respiratory Carcinoma	LNCR
Adenocarcinoma Of Lung	Neoplasm Of Lung
Cancer Lung	Carcinoma Non-Small Cell Lung
Carcinoma, Non-Small-Cell Lung	Lung Cancers
Lung Carcinomas	Cancer, Lung
Cancer, Lung, Non-Small Cell	Primary Malignant Neoplasm Of Lung
Bronchioloalveolar Adenocarcinoma

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Axonal Neuropathy

Nephronophthisis

Medullary Cystic Disease	Medullary Cystic Kidney
Nph	Nphp
Kidney Disease, Cystic, Medullary

Neurofibromatosis-Noonan Syndrome

NFNS	Neurofibromatosis Type 1
Neurofibromatosis With Noonan Phenotype	Nf1
Von Recklinghausen Disease	Neurofibromatosis Type 1-Noonan Syndrome
Noonan Neurofibromatosis Syndrome	Recklinghausen'S Disease
Noonan-Neurofibromatosis Syndrome	Fibromatosis Multiple Non Ossifying
Disseminated Nonossifying Fibromas In Association With Cafe-Au-Lait Spots	Jaffe Campanacci Syndrome
Type 1 Neurofibromatosis	Neurofibromatosis 1
Peripheral Neurofibromatosis	Recklinghausen Disease, Nerve
Jaffe-Campanacci Syndrome

Prostate Cancer

Prostate Carcinoma	Prostate Cancer, Familial
Prostate Neoplasm	Prostate Cancer, Somatic
Prostate Cancer, Susceptibility To	Prostatic Cancer
Prostatic Neoplasms	Hereditary Prostate Cancer
Prostatic Neoplasm	Cancer Of Prostate
Carcinoma Of Prostate	Familial Prostate Cancer
Familial Prostate Carcinoma	Malignant Tumor Of Prostate
Malignant Neoplasm Of Prostate	Prostate Cancer, Familial, Susceptibility To
Malignant Tumor Of The Prostate	Ngp - New Growth Of Prostate
Tumor Of The Prostate	Prostate Cancer, Hereditary
Cancer Of The Prostate	Malignant Neoplasm Of The Prostate
Prostatic Carcinoma	PC
Prca	Cancer, Prostate
Malignant Prostatic Tumour	Malignant Tumour Of Prostate
Primary Prostate Cancer	Primary Malignant Neoplasm Of Prostate
Prostate Gland Cancer

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles	Cfeom
Feom	Congenital External Ophthalmoplegia
Congenital Fibrosis Syndrome	General Fibrosis Syndrome

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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

Bioactive Molecules (10)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-158208	PMMB276	Inhibitor	/	Unkown
HY-RS15250	TUBB Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS15251	TUBB1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS15252	TUBB2A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS15253	TUBB2B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS15254	TUBB3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS15255	TUBB4A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS15256	TUBB4B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS15257	TUBB6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS15258	TUBB8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TUBB	VGNC	VGNC:66699
Canis familiaris	TUBB	VGNC	VGNC:110552
Bos taurus	TUBB	VGNC	VGNC:103058
Rattus norvegicus	TUBB	RGD	RGD:628596
Macaca mulatta	TUBB	VGNC	VGNC:104438
Mus musculus	TUBB	MGD	MGI:107812
Others	TUBB	NCBI

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