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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TUBB1 Gene

protein-coding GIFtS: 63
GCID: GC20P057594

tubulin, beta 1 class VI

(Previous names: tubulin, beta 1 )

Explore 11 diseases affiliated with
TUBB1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Tubulin, Beta 1 Class VI¹ ²
DJ543J19.4¹
Tubulin, Beta 1¹
Beta Tubulin 1, Class VI²
Class VI Beta-Tubulin²
Tubulin Beta-1 Chain²

External Ids:	HGNC: 16257¹	Entrez Gene: 81027²	Ensembl: ENSG00000101162⁷	OMIM: 612901⁵	UniProtKB: Q9H4B7³

Export aliases for TUBB1 gene to outside databases

Previous GC identifers: GC20P057322 GC20P058232 GC20P058279 GC20P057027 GC20P054381

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TUBB1:

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)

UniProtKB/Swiss-Prot: TBB1_HUMAN, Q9H4B7

Function: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on

the beta chain and one at a non-exchangeable site on the alpha chain (By similarity)

summary for TUBB1:

Microtubules are cylindrical tubes of 20-25 nm in diameter. They are composed of protofilaments which are in

turn composed of alpha- and beta-tubulin polymers. Each microtubule is polarized, at one end alpha-subunits

are exposed (-) and at the other beta-subunits are exposed (+). Microtubules act as a scaffold to determine

cell shape, and provide a backbone for cell organelles and vesicles to move on, a process that requires

motor proteins. The major microtubule motor proteins are kinesin, which generally moves towards the (+) end

of the microtubule, and dynein, which generally moves towards the (-) end. Microtubules also form the

spindle fibers for separating chromosomes during mitosis.

Gene Wiki entry for TUBB1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000020.10 NC_018931.1 NT_011362.10

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TUBB1 gene promoter:
SRF C/EBPbeta Pax-6 SRF (504 AA) YY1 C/EBPalpha En-1 ATF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TUBB1 promoter sequence

Search SABiosciences Chromatin IP Primers for TUBB1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TUBB1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.32 Ensembl cytogenetic band: 20q13.32 HGNC cytogenetic band: 20q13.32

TUBB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TUBB1 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20P057594: view genomic region (about GC identifiers)

Start:	57,594,309 bp from pter	End:	57,601,709 bp from pter
Size:	7,401 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TBB1_HUMAN, Q9H4B7 (See protein sequence)

Recommended Name: Tubulin beta-1 chain

Size: 451 amino acids; 50327 Da

Subunit: Dimer of alpha and beta chains (By similarity). Interacts with RANBP10

Subcellular location: Cytoplasm, cytoskeleton

Explore the universe of human proteins at neXtProt for TUBB1: NX_Q9H4B7

Post-translational modifications:

Some glutamate residues at the C-terminus are polyglutamylated. This modification occurs exclusively on glutamate

residues and results in polyglutamate chains on the gamma-carboxyl group. Also monoglycylated but not polyglycylated

due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into

axonemes (cilia and flagella) whereas glutamylation is prevalent in neuronal cells, centrioles, axonemes, and the

mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and lowering glycylation

levels increases polyglutamylation, and reciprocally. The precise function of such modifications is still unclear but

they regulate the assembly and dynamics of axonemal microtubules (Probable)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9H4B7

TUBB1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_110400.1

ENSEMBL proteins:

ENSP00000217133

Reactome Protein details: Q9H4B7
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	Browse Proteins at Uscn

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	--
GO:0005874	microtubule	IEA	--
GO:0005886	plasma membrane	IDA	--
GO:0015630	microtubule cytoskeleton	IDA	--

TUBB1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TUBB1 for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR002453 Beta_tubulin

IPR000217 Tubulin

IPR003008 Tubulin_FtsZ_GTPase

IPR023123 Tubulin_C

IPR008280 Tub_FtsZ_C

Graphical View of Domain Structure for InterPro Entry Q9H4B7

ProtoNet protein and cluster: Q9H4B7

1 Blocks protein family: IPB002453 Beta tubulin

UniProtKB/Swiss-Prot: TBB1_HUMAN, Q9H4B7

Similarity: Belongs to the tubulin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TBB1_HUMAN, Q9H4B7

Function: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on

the beta chain and one at a non-exchangeable site on the alpha chain (By similarity)

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		hsa-miR-133a hsa-miR-544 hsa-miR-1197 hsa-miR-9* hsa-miR-133b hsa-miR-223*
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TUBB1

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003924	GTPase activity	IEA	--
GO:0005200	structural constituent of cytoskeleton	IEA	--
GO:0005525	GTP binding	IEA	--

TUBB1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for TUBB1:

Synthetic lethal with Ras

Animal Models:
Mouse knock-out Tubb1^tm1Shiv for TUBB1
2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Tubb1):

hematopoietic system

homeostasis/metabolism

TUBB1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/36 super-pathways (see all 36) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

M Phase

M Phase	1.00	Mitotic Anaphase	0.85
Mitotic M-M/G1 phases	0.88	Separation of Sister Chromatids	0.80
Mitotic Metaphase and Anaphase	0.85

Recruitment of mitotic centrosome proteins and complexes

	Recruitment of mitotic centrosome proteins and complexes	1.00			G2/M Transition	0.83
	Centrosome maturation	1.00			Mitotic G2-G2/M phases	0.81

Axon guidance

	Axon guidance	1.00			L1CAM interactions	0.39
	Developmental Biology	0.69			Recycling pathway of L1	0.15

Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane

	Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane	1.00			Post-chaperonin tubulin folding pathway	0.67
	Transport of connexons to the plasma membrane	0.93			Recruitment of NuMA to mitotic centrosomes	0.50

Formation of tubulin folding intermediates by CCT/TriC

	Formation of tubulin folding intermediates by CCT/TriC	1.00			Prefoldin mediated transfer of substrate to CCT/TriC	0.70
	Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding	0.74

Pathway sources
See GeneCards unified pathways
Show all pathways

5/9 EMD Millipore Pathways for TUBB1 (see all 9)

	Cytoskeleton remodeling Neurofilaments
	Cytoskeleton remodeling Slit-Robo signaling
	Cytoplasmic microtubules
	Cytoskeleton remodeling Reverse signaling by ephrin B
	Cytoskeleton remodeling Keratin filaments

5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TUBB1 (see all 11)

	Sertoli-Sertoli Cell Junction Dynamics
	Remodeling of Adherens Junctions
	Molecular Mechanisms of Cancer
	Signaling in Gap Junctions
	Epithelial Adherens Junctions

5/10 GeneGo (Thomson Reuters) Pathways for TUBB1 (see all 10)

	Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
	Cell cycle Spindle assembly and chromosome separation
	Regulation of CFTR activity (norm and CF)
	Neurophysiological process Receptor-mediated axon growth repulsion
	Cytoskeleton remodeling Keratin filaments

2 BioSystems Pathways for TUBB1

	Parkin-Ubiquitin Proteasomal System pathway
	Pathogenic Escherichia coli infection

5/41 Reactome Pathways for TUBB1 (see all 41)

	L1CAM interactions
	Mitotic Prometaphase
	Membrane Trafficking
	Protein folding
	Recruitment of mitotic centrosome proteins and complexes

3 Kegg Pathways (Kegg details for TUBB1):

	Phagosome
	Gap junction
	Pathogenic Escherichia coli infection

TUBB1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for TUBB1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/674 Interacting proteins for TUBB1 (Q9H4B7^{2, 3} ENSP00000217133⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 674)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DYNC1I1	O14576²^,³, ENSP00000320130⁴	MINT-1891351 I2D: score=1 STRING: ENSP00000320130
SNW1	Q13573²^,³, ENSP00000261531⁴	MINT-7945693 I2D: score=1 STRING: ENSP00000261531
NSF	P46459²^,³	MINT-7945693 I2D: score=1
PRKAG1	P54619²^,³	MINT-7945693 I2D: score=1
SQSTM1	Q13501²^,³	MINT-7945693 I2D: score=1

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006457	protein folding	TAS	--
GO:0007017	microtubule-based process	--	--
GO:0007018	microtubule-based movement	IEA	--
GO:0044267	cellular protein metabolic process	TAS	--
GO:0051084	'de novo' posttranslational protein folding	TAS	--

TUBB1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for TUBB1 available from Tocris Bioscience About this table

Compound	Action	CAS #
XRP44X	Ras-Net pathway inhibitor	[729605-21-4]
Taxol	Promotes assembly and inhibits disassembly of microtubules	[33069-62-4]
Vincristine sulfate	Disrupts microtubules	[2068-78-2]
Vinblastine sulfate	Disrupts microtubules	[143-67-9]
Nocodazole	Microtubule inhibitor	[31430-18-9]

1 HMDB Compound for TUBB1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--

7 DrugBank Compounds for TUBB1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Colchicine	Colchicin (see all 3)	64-86-8	target	inhibitor	20814887 17139284 15720245 20586571 17016423 19527023
Paclitaxel	7-epi-Paclitaxel (see all 5)	33069-62-4	target	inhibitor	17139284 17016423 1350385 17314054 19575780
Vindesine	Desacetylvinblastine Amide Sulfate (see all 2)	59917-39-4	target	inhibitor	10920282 17465195 17139284 17878523 17016423
Docetaxel	Docetaxel anhydrous (see all 3)	114977-28-5	target	Binder	15161985 11309480 18559268 15698529
Epothilone B	EPO 906 (see all 3)	152044-54-7	target	--	17139284 17016423
Epothilone D	--	189453-10-9	target	--	17139284 17016423
Cabazitaxel	--	183133-96-2	target	binder	--

Search CenterWatch for drugs/clinical trials and news about TUBB1 / TBB1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TUBB1 gene:

NM_030773.3

Unigene Cluster for TUBB1:

Tubulin, beta 1 class VI

Hs.303023 [show with all ESTs]

Unigene Representative Sequence: NM_030773

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000217133(uc002yak.3)

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Additional cDNA sequence:

AJ292757.1 BC033679.1

2 DOTS entries:

DT.442802 DT.426692

24/40 AceView cDNA sequences (see all 40):

H72612 AJ292757 BX114569 H61093 N69201 BP339504 NM_030773 AA704444

N66926 AI292170 BE830928 BG537584 AL601565 BU580413 CD632712 CD632714

BU580873 AI051426 BC033679 CD632718 H57679 BI821931 H57678 BM146489

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TUBB1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTTCCTCTGG

About this image

TUBB1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Yolk Sac

Definitive Yolk Sac

Definitive Hematopoietic Stem Cells

Blood

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Otx2+Corin+ cells (Derivation of functi...)

See TUBB1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TUBB1

SOURCE GeneReport for Unigene cluster: Hs.303023

UniProtKB/Swiss-Prot: TBB1_HUMAN, Q9H4B7

Tissue specificity: Hematopoietic cell-specific. Major isotype in leukocytes, where it represents 50% of all

beta-tubulins

SABiosciences Expression via Pathway-Focused PCR Array including TUBB1:

Gap Junctions in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for TUBB1 gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TUBB1¹	tubulin, beta 1	75.85(n) 84.88(a)		396427 NM_205445.1 NP_990776.1
lizard (Anolis carolinensis)	Reptilia	TUBB1⁶	--	80(a)	1 ↔ 1	GL343770.1(177499-184133)
zebrafish (Danio rerio)	Actinopterygii	LOC558552¹	tubulin beta-6 chain-like	71.73(n) 79.82(a)		558552 XM_681782.2 XP_686874.2
fruit fly (Drosophila melanogaster)	Insecta	&bgr;Tub56D³	cytoskeleton organization and biogenesis structural more	87(a) (best of 4)		--
worm (Caenorhabditis elegans)	Secernentea	mec-7³	beta tubulin	78(a) (best of 5)		X(7810216-7811403) --

ENSEMBL Gene Tree for TUBB1 (if available)
TreeFam Gene Tree for TUBB1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TUBB1 gene

TUBB² TUBB8² TUBB4A² TUBB4B² TUBB2B² TUBB3² ENSG00000173213² TUBB2A²

TUBB6² TUBE1² ENSG00000258947²

18/26 SIMAP similar genes for TUBB1 using alignment to 1 protein entry: TBB1_HUMAN(see all similar genes):

TUBB2B TUBB3 DKFZp566F223 XTP3TPATP1 TUBB2A TUBB4A

TUBB4B TUBB4Q TUBB2C TUBB6 TUBB8 TUBB

DKFZp686L04275 TUBA1A TUBG1 TUBA8 TUBA1C TUBA2

TUBB1 for paralogs About GeneDecksing

4 Pseudogenes.org Pseudogenes for TUBB1
PGOHUM00000239376 PGOHUM00000243617 PGOHUM00000233755 PGOHUM00000233988

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121918555^1,2	C,	pathogenic	59093255(+)	`TTTTCC/TGGGGC`	2	R W	mis¹		1		NA	4548
rs116251610^1,2	C,F,	--	54380782(+)	`GGGACG/AACAGA`	1	--	us2k¹		1		WA	118
rs2217189^1,2	C,	--	54380915(+)	`AGGGCA/GGGCAG`	1	--	us2k¹		0	--	--	--	--
rs75277130^1,2	F,	--	54381099(+)	`ACAGTC/TATCAT`	1	--	us2k¹		1		WA	118
rs60060239^1,2	F,	--	54382035(+)	`CAGGGA/GTCTCA`	1	--	int¹		1		WA	118
rs74310897^1,2	F,	--	54382592(+)	`CTTAAA/GAAAAA`	1	--	int¹		1		EA	120
rs78576404^1,2	F,	--	54382758(+)	`AAGTAC/TGTAAC`	1	--	int¹		1		WA	118
rs58361337^1,2		--	54382852(+)	`AATTTA/GTCGTG`	1	--	int¹		2		CSA WA	119
rs62205396^1,2	C,	--	54383162(+)	`TAATAC/TGGAAA`	1	--	int¹		3		NA WA	240
rs79189281^1,2	F,	--	54383226(+)	`GAATCG/ATATGG`	1	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for TUBB1 (57594309 - 57601709 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TUBB1: --
Human Gene Mutation Database (HGMD): TUBB1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TUBB1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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TUBB1 for disorders           About GeneDecksing

OMIM gene information: 612901
OMIM disorders: 613112
UniProtKB/Swiss-Prot: TBB1_HUMAN, Q9H4B7

Defects in TUBB1 are a cause of macrothrombocytopenia autosomal dominant TUBB1-related (MAD-TUBB1)

[MIM:613112]. It is a congenital blood disorder characterized by increased platelet size and decreased number of

circulating platelets

11 diseases for TUBB1: About MalaCards

macrothrombocytopenia treacher collins syndrome megakaryocytic leukemia blood disorders

bleeding disorder myocardial infarction ovarian cancer malaria

leukemia parkinson's disease breast cancer

Genetic Association Database (GAD): TUBB1
Human Genome Epidemiology (HuGE) Navigator: TUBB1 (9 documents)

Export disorders for TUBB1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for TUBB1 gene, integrated from 9 sources (see all 67):
(articles sorted by number of sources associating them with TUBB1)

Utopia: connect your pdf to the dynamic
world of online information

The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure. (PubMed id 15956286)^{1, 2, 4} Freson K....Van Geet C. (2005)
Tumoral and tissue-specific expression of the major h uman beta-tubulin isotypes. (PubMed id 20191564)^{1, 2} Leandro-GarcA-a L.J....RodrA-guez-Antona C. (2010)
Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. (PubMed id 18849486)^{1, 2} Kunishima S....Saito H. (2009)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)^{1, 2} Gevaert K.... Vandekerckhove J. (2003)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)¹ Udeshi N.D....Carr S.A. (2012)
A meta-analysis and genome-wide association study of p latelet count and mean platelet volume in african americans. (PubMed id 22423221)¹ Qayyum R....Reiner A.P. (2012)
Hematologic b-tubulin VI isoform exhibits genetic vari ability that influences paclitaxel toxicity. (PubMed id 22805305)¹ Leandro-Garcia L.J....Rodriguez-Antona C. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 81027	HGNC: 16257	AceView: TUBB1	Ensembl:ENSG00000101162	euGenes: HUgn81027
ECgene: TUBB1	Kegg: 81027	H-InvDB: TUBB1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for TUBB1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TUBB1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TUBB1 gene:
Search GeneIP for patents involving TUBB1

GeneCards and IP:
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tubulin, beta 1 class VI

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TUBB1 Gene

tubulin, beta 1 class VI

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