TUBB1 - tubulin beta 1 class VI Gene

Also Known as MACTHC1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 81027

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

Gene Ontology

Cellular Component

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	18849486	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

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

TUBB1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80487	Beta Tubulin Antibody (YA585)	WB, ICC/IF, IHC-P, FC	Human, Mouse, Rat
HY-P84800	TUBB1 Antibody (YA4497)	WB, IHC-P, ICC/IF, FC, ELISA	Human, Mouse, Monkey, Rat
HY-P84800A	TUBB1 Antibody (YA4497)(PBS only)	WB, IHC-P, ICC/IF, FC, ELISA	Human, Mouse, Monkey, Rat

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-115715	EN219		99.21%	Unkown
HY-115715A	EN219-alkyne		99.62%	Unkown
HY-RS15250	TUBB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS15251	TUBB1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	TUBB1	NCBI