TUBB1 - tubulin beta 1 class VI Gene

Homo sapiens

Also known as MACTHC1

Gene ID: 81027 | Gene type: protein coding

About TUBB1

Cytogenetic location: 20q13.32 Genomic coordinates (GRCh38): 20:59,016,438-59,026,654 (from NCBI)

This gene has 1 transcript (splice variant), 185 orthologues, 23 paralogues and is associated with 2 phenotypes. Biased expression in bone marrow (RPKM 4.6), spleen (RPKM 3.2) and 10 other tissues.

Summary

This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]

TUBB1 Products(1)

mRNA	Protein	Name
NM_030773.4	NP_110400.1	tubulin beta-1 chain

TUBB1 Protein Structure

Tubulin

Tubulin_C

0
100
200
300
400
451 a.a.

Protein Preferred Names

Protein Names

tubulin beta-1 chain

tubulin, beta 1

Related Diseases

Diseases

Alias

Macrothrombocytopenia, Isolated, 1, Autosomal Dominant

Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related	MACTHC1
MAD-TUBB1

Autosomal Dominant Macrothrombocytopenia Tubb1-Related

Autosomal Dominant Macrothrombocytopenia

Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss

Fechtner Syndrome	May-Hegglin Anomaly
Sebastian Syndrome	Epstein Syndrome
Macrothrombocytopenia With Leukocyte Inclusions	Myh9-Related Disorder
Macrothrombocytopenia And Progressive Sensorineural Deafness	MATINS
Bdplt6	Mha
Dohle Leukocyte Inclusions With Giant Platelets	Giant Platelet Syndrome With Thrombocytopenia
Sbs	Sebastian Platelet Syndrome
Epstns	Ftns
Bleeding Disorder, Platelet-Type, 6	Macrothrombocytopenia With Dispersed Leukocytic Inclusions
Macrothrombocytopenia, Nephritis, And Deafness	Macrothrombocytopenia, Nephritis, Deafness, And Leukocyte Inclusions
Alport Syndrome With Macrothrombocytopenia, Formerly	Apsm, Formerly
Myh9 Related Thrombocytopenia	Myh9 Related Disorders
Myh9-Rd	Myh9-Related Disease
Myh9-Related Syndrome	Myh9-Related Syndromic Thrombocytopenia
Autosomal Dominant Myh9 Spectrum Disorders	Myh9-Related Macrothrombocytopenias
Myh9rd	Alport Syndrome, With Macrothrombocytopenia
Bleeding Disorder Platelet-Type 6	Macrothrombocytopathy, Nephritis, And Deafness
Macrothrombocytopathy-Nephritis-Deafness	Mpsd
Epsteins Syndrome	May-Hegglin Disorder
Macrothrombocytopenia, Granulocyte Inclusions With/Without Nephritis Or Sensorineural Hearing Loss

Congenital Hypothyroidism

Cretinism	Neonatal Hypothyroidism
Ch	Cht
Congenital Myxedema	Myxedema, Congenital
Endemic Cretinism	Congenital Iodine-Deficiency Syndrome
Fetal Iodine Deficiency Syndrome	Congenital Iodine-Deficiency Hypothyroidism Nos

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

Fibrosis Of Extraocular Muscles, Congenital, 1

Fibrosis Of Extraocular Muscles, Congenital, 3b	CFEOM1
Blepharoptosis With Absent Eye Movements	Congenital Fibrosis Of The Extraocular Muscles 1
Congenital Fibrosis Of Extraocular Muscles Type 1	Fibrosis
Ophthalmoplegia, Congenital	Feom1 Locus
Congenital Ophthalmoplegia	Feom1
CFEOM3B	Fibrosis, Extraocular Muscles, Congenital, Type 1
Congenital Fibrosis Of The Extraocular Muscles

Mitochondrial Complex V Deficiency, Nuclear Type 5

Mitochondrial Complex V Deficiency	MC5DN5
Mitochondrial Complex V Deficiency, Atp5f1d Type	Mitochondrial Complex V Deficiency
Mitochondrial Complex 5 Deficiency Nuclear Type 5	Complex 5 Mitochondrial Respiratory Chain Deficiency
Atp Synthase Deficiency	Mitochondrial Complex V Deficiency, Nuclear Type 5
Complex V Deficiency

Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

BSSA2	Bernard-Soulier Syndrome Type A2
Bernard-Soulier Syndrome, Type A2	Bernard-Soulier Syndrome A2, Autosomal Dominant
Autosomal Dominant Benign Bernard-Soulier Syndrome	Benign Mediterranean Macrothrombocytopenia
Bernard-Soulier Syndrome, Benign Autosomal Dominant

Amegakaryocytic Thrombocytopenia, Congenital

Congenital Amegakaryocytic Thrombocytopenia	CAMT
Thrombocytopenia, Congenital Amegakaryocytic	Congenital Amegakaryocytic Thrombocytopenic Purpura
Thrombocytopenia Congenital Amegakaryocytic	Thrombocytopenia, Amegakaryocytic, Congenital

Myh-9 Related Disease

Myh9-Related Disease	Myh9-Rd
Myh9-Related Disorder	Myh9-Related Syndrome
Myh9-Related Syndromic Thrombocytopenia	Sebastian Syndrome

Bernard-Soulier Syndrome

Giant Platelet Syndrome	BSS
Von Willebrand Factor Receptor Deficiency	Bdplt1
Platelet Glycoprotein Ib Deficiency	Bernard-Soulier Syndrome, Type A1
Bernard-Soulier Syndrome, Type B	Bernard Soulier Syndrome
Deficiency Of Platelet Glycoprotein 1b	Hemorrhagiparous Thrombocytic Dystrophy
Bernard-Soulier Syndrome Type C	Bleeding Disorder, Platelet-Type, 1
Glycoprotein Ib, Platelet, Deficiency Of	Giant Platelet Disorder, Isolated
Giant Platelet Disease	Macrothrombocytopenia, Familial Bernard-Soulier Type
Bernard-Soulier Syndrome, Type C	Bernard - Soulier Thrombopathy
Hemorrhagic Dystrophic Thrombocytopenia	Thrombopathy, Bernard-Soulier
Platelet Glycoprotein 1b, Deficiency Of	Hemorrhagioparous Thrombocytic Dystrophy
Bernard-Soulier Syndrome Type A1	Bernard-Soulier Syndrome Type B
Bleeding Disorder Platelet-Type 1	Gpd
Macrothrombocytopenia, Familial, Bernard-Soulier Type

Postsurgical Hypothyroidism

Postoperative Hypothyroidism

Post-Surgical Hypothyroidism

Stormorken Syndrome

Thrombocytopathy, Asplenia, And Miosis	Stormorken-Sjaastad-Langslet Syndrome
STRMK	York Platelet Syndrome
Yps	Thrombocytopathy, Asplenia And Miosis
Thrombocytopathy Asplenia Miosis	Thrombocytopathy-Asplenia-Miosis Syndrome
Miosis Disorder

Glanzmann Thrombasthenia 1

Glanzmann Thrombasthenia	Thrombasthenia Of Glanzmann And Naegeli
Glanzmann'S Thrombasthenia	Bdplt2
Platelet Glycoprotein Iib-Iiia Deficiency	Deficiency Of Platelet Fibrinogen Receptor
GT1	Gt
Platelet Fibrinogen Receptor Deficiency	Glycoprotein Complex Iib-Iiia Deficiency
Deficiency Of Glycoprotein Complex Iib-Iiia	Glycoprotein Iib/Iiia Defect
Glanzmann Thrombasthenia, Type A	Thrombasthenia
Bleeding Disorder, Platelet-Type, 2	Gp Iib-Iiia Complex Deficiency
Deficiency Of Gp Iib-Iiia Complex	Platelet-Type Bleeding Disorder 2
Thrombocytasthenia	Deficiency Of Gp 2b 3a Complex
Diacyclothrombopathia 2b 3a	Glanzmann Thrombasthenia Type A
Platelet Fibrinogen Receptor, Deficiency Of	Platelet Glycoprotein 2b 3a Deficiency
Glanzmann Disease	Glanzmann-Naegeli Disorder
Hereditary Hemorrhagic Thrombasthenia	Hereditary Thrombasthenia
Bleeding Disorder Platelet-Type 2

Congenital Fibrosis Of The Extraocular Muscles

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

Sitosterolemia

Phytosterolemia	Beta-Sitosterolemia
Plant Sterol Storage Disease	Phytosterolæmia
Sitosterolæmia	Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body
Phytosterolaemia	Sitosterolaemia
Sitosterolemia With Xanthomatosis

Hemochromatosis, Type 1

Hemochromatosis	Hemochromatosis Type 1
Hereditary Hemochromatosis	Hh
HFE1	Hfe Hemochromatosis, Modifier Of
Symptomatic Form Of Classic Hemochromatosis	Symptomatic Form Of Hemochromatosis Type 1
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis	Haemochromatosis
Iron Storage Disorder	Bronze Diabetes
Hereditary Haemochromatosis	Hlah
Hfe	Hemochromatosis, Hereditary
Diabetes Bronze	Classic Hemochromatosis
Hfe-Associated Hereditary Hemochromatosis	Hemochromatosis Classic
Bronzed Cirrhosis	Familial Hemochromatosis
Genetic Hemochromatosis	Hc
Pigmentary Cirrhosis	Primary Hemochromatosis
Troisier-Hanot-Chauffard Syndrome	Von Recklenhausen-Applebaum Disease
Hemochromatosis 1	Primary Hereditary Hemochromatosis
Bronze Cirrhosis

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-115715	EN219		98.56%	Unkown
HY-RS15251	TUBB1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TUBB1	MGD	MGI:107814
Bos taurus	TUBB1	VGNC	VGNC:36506
Macaca mulatta	TUBB1	VGNC	VGNC:79017
Canis familiaris	TUBB1	VGNC	VGNC:49697
Felis catus	TUBB1	VGNC	VGNC:81254
Rattus norvegicus	TUBB1	RGD	RGD:1589557

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