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TUBB1 Gene

protein-coding GIFtS: 64
GCID: GC20P057594

Tubulin, Beta 1 Class VI

(Previous names: tubulin, beta 1)

See TUBB1-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Tubulin, Beta 1 Class VI¹ ²
Class VI Beta-Tubulin¹ ²
Tubulin, Beta 1¹
Beta Tubulin 1, Class VI²
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TUBB1 Gene:

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)

GeneCards Summary for TUBB1 Gene:

TUBB1 (tubulin, beta 1 class VI) is a protein-coding gene. Diseases associated with TUBB1 include macrothrombocytopenia, autosomal dominant, tubb1-related, and bleeding disorder, platelet-type, 16, autosomal dominant. GO annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is LOC260334.

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 Gene:

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 Gene

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000020.10 NC_018931.2 NT_011362.11

Regulatory elements:

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 Chromatin IP Primers for TUBB1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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. A typical microtubule is a hollow water-filled tube with an outer

diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form

protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule

plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different

protofilament numbers can be found in some organisms and specialized cells. Interacts with RANBP10

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

Explore proteomics data for TUBB1 at MOPED

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

Ubiquitination² at Lys252

Modification sites at PhosphoSitePlus

See TUBB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_110400.1

ENSEMBL proteins:

ENSP00000217133

Reactome Protein details: Q9H4B7

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	antibodies-online kits for TUBB1 (5 products)

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

HGNC Gene Families:

TUB: Tubulins

Selected InterPro protein domains (see all 8):

IPR002453 Beta_tubulin

IPR000217 Tubulin

IPR003008 Tubulin_FtsZ_GTPase

IPR023123 Tubulin_C

IPR018316 Tubulin/FtsZ_2-layer-sand-dom

Graphical View of Domain Structure for InterPro Entry Q9H4B7

ProtoNet protein and cluster: Q9H4B7

1 Blocks protein domain: IPB002453 Beta tubulin

UniProtKB/Swiss-Prot: TBB1_HUMAN, Q9H4B7

Similarity: Belongs to the tubulin family

Find genes that share domains with TUBB1 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: 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)

Gene Ontology (GO): 3 molecular function terms: 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	--

Find genes that share ontologies with TUBB1 About GenesLikeMe

Phenotypes:
1 GenomeRNAi human phenotype for TUBB1:

Synthetic lethal with Ras

2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Tubb1):

hematopoietic system

homeostasis/metabolism

Find genes that share phenotypes with TUBB1 About GenesLikeMe

Animal Models:
MGI mouse knock-out Tubb1^tm1Shiv for TUBB1

genOway: Develop your customized and physiologically relevant rodent model for TUBB1

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TUBB1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

TBB1_HUMAN, Q9H4B7: Cytoplasm, cytoskeleton

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytoskeleton	5
cytosol	4
plasma membrane	4
nucleus	2
extracellular	1

About this image

Gene Ontology (GO): 5 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	18849486
GO:0005874	microtubule	IEA	--
GO:0005886	plasma membrane	--	--
GO:0015630	microtubule cytoskeleton	--	--
GO:0043234	protein complex	--	--

Find genes that share ontologies with TUBB1 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

SuperPaths for TUBB1 About (see all 19)

See pathways by source

Powered
by

SuperPath

Contained pathways About

Development Slit-Robo signaling

Development Slit-Robo signaling	0.44	Pathogenic Escherichia coli infection	0.41
Neurophysiological process Receptor-mediated axon growth repulsion	0.44	Cell adhesion Gap junctions	0.30
Pathogenic Escherichia coli infection	0.43

Parkin-Ubiquitin Proteasomal System pathway

Parkin-Ubiquitin Proteasomal System pathway

0.96

Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway

0.96

Signaling in Gap Junctions

Signaling in Gap Junctions

0.31

Gap junction

0.31

Protein folding

	Protein folding	0.91			Post-chaperonin tubulin folding pathway	0.00
	Chaperonin-mediated protein folding	0.91

Prefoldin mediated transfer of substrate to CCT/TriC

	Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding	0.76			Prefoldin mediated transfer of substrate to CCT/TriC	0.72
	Formation of tubulin folding intermediates by CCT/TriC	0.76

Find genes that share SuperPaths with TUBB1 About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

Selected Downloadable PowerPoint Slides of GeneGlobe 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

Selected 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

Selected Reactome Pathways for TUBB1 (see all 13)

	Resolution of Sister Chromatid Cohesion
	Prefoldin mediated transfer of substrate to CCT/TriC
	Mitotic Prometaphase
	Translocation of GLUT4 to the plasma membrane
	Recruitment of NuMA to mitotic centrosomes

3 Kegg Pathways (Kegg details for TUBB1):

	Phagosome
	Gap junction
	Pathogenic Escherichia coli infection

Pathway & Disease-focused RT² Profiler PCR Array including TUBB1:

Gap Junctions in human mouse rat

Interactions:

Search GeneGlobe Interaction Network for TUBB1

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

Selected Interacting proteins for TUBB1 (Q9H4B7^{2, 3} ENSP00000217133⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 722)

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): Selected biological process terms (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006184	GTP catabolic process	--	--
GO:0006457	protein folding	TAS	--
GO:0007017	microtubule-based process	--	--
GO:0044267	cellular protein metabolic process	TAS	--
GO:0051084	'de novo' posttranslational protein folding	TAS	--

Find genes that share ontologies with TUBB1 About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Compounds for TUBB1 available from Tocris Bioscience About this table

Compound	Action	CAS #
Vinorelbine ditartrate	Selective mitotic microtubule antagonist	[125317-39-7]
Docetaxel	Microtubule stabilizer	[114977-28-5]
Vinblastine sulfate	Disrupts microtubules	[143-67-9]
Colchicine	Inhibitor of tubulin	[64-86-8]
Epothilone B	Microtubule stabilization agent; promotes tubulin polymerization	[152044-54-7]

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 8)	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 4)	114977-28-5	target	--	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	RPR-116258A (see all 5)	183133-96-2	target	binder	--

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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 mRNA sequence:

AJ292757.1 BC033679.1

2 DOTS entries:

DT.442802 DT.426692

Selected AceView cDNA sequences (see all 40):

AI292170 H72612 BP339504 AA704444 N66926 AJ292757 H61093 NM_030773

N69201 BX114569 AI051426 BG537584 H57679 BE830928 CD632718 BU580413

CD632714 CD632712 BI821931 AL601565 BU580873 BC033679 H81140 H57678

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 GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, 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 <intensity>^2/3
CGAP TAG: CTTCCTCTGG

About this image

TUBB1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 5) fully expand


Blood (Cardiovascular System) fully expand to see all 2 entries
Proerythroblasts Hematopoietic Bone Marrow

Yolk Sac (Extraembryonic Tissues)
Definitive Hematopoietic Stem Cells Definitive Yolk Sac

Neural Tube (Nervous System)
Otx2+Corin+ cells

Liver (Hepatobiliary System)

Spleen (Hematopoietic System)

TUBB1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

TUBB1 Protein Expression

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

Pathway & Disease-focused RT² Profiler 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 and fungi.

Orthologs for TUBB1 gene from Selected species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tubb1^{1 , 5}	tubulin, beta 1 class VI^{1, 5}	85.37(n)¹ 91.8(a)¹		2 (97.95 cM)⁵ 545486¹ NM_001080971.2¹ NP_001074440.1¹ 174450695⁵
chicken (Gallus gallus)	Aves	TUBB1¹	tubulin, beta 1 class VI	76.28(n) 85.58(a)		396427 NM_205445.1 NP_990776.1
lizard (Anolis carolinensis)	Reptilia	TUBB1⁶	tubulin, beta 1 class VI	80(a)	1 ↔ 1	GL343770.1(173297-184456)
tropical clawed frog (Xenopus tropicalis)	Amphibia	LOC100498230¹	tubulin beta-6 chain-like	76.77(n) 81.61(a)		100498230 XM_002941712.2 XP_002941758.2
zebrafish (Danio rerio)	Actinopterygii	tubb1¹	tubulin, beta 1 class VI	71.78(n) 80.47(a)		558552 XM_005172125.1 XP_005172182.1
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) --
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	TUB2⁶	Beta-tubulin; associates with alpha-tubulin (Tub1p...	66(a)	1 → many	VI(56336-57709) YFL037W

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,Sets of similar genes according to GenesLikeMe)
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Paralogs for TUBB1 gene

LOC260334² TUBB8P7² TUBB² TUBB4B² TUBB4A² TUBB8² TUBB2B² TUBB3²

TUBE1² TUBB6² TUBB2A² ENSG00000258947²

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

TUBB2B TUBB3 DKFZp566F223 XTP3TPATP1 TUBB2A TUBB8

TUBB4B TUBB4Q TUBB2C TUBB6 TUBB TUBB4A

TUBA1A DKFZp686L04275 TUBG1 TUBA8 TUBA1C TUBA2

Find genes that share paralogs with TUBB1 About GenesLikeMe

4 Pseudogenes.org Pseudogenes for TUBB1
PGOHUM00000239376 PGOHUM00000243617 PGOHUM00000233755 PGOHUM00000233988

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

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,,4	C	Macrothrombocytopenia, autosomal dominant, TUBB1-related (MAD-TUBB1)⁴ pathogenic¹	57569428(+)	`TTTTCC/TGGGGC`	2	R W	mis¹		1		NA	4548
rs143122294^1,2	C	--	57562315(+)	`TACCAC/TCCTCT`	1	--	us2k¹		0	--	--	--	--
rs148256817^1,2	C	--	57562630(+)	`CCTGTA/GGAAGG`	1	--	us2k¹		0	--	--	--	--
rs141201100^1,2		--	57562755(+)	`GGAGGA/GAAGGA`	1	--	us2k¹		0	--	--	--	--
rs147365503^1,2		--	57562852(+)	`GCTAGG/TAGTGC`	1	--	us2k¹		0	--	--	--	--
rs190521078^1,2		--	57562968(+)	`TCCCCA/GTCCAT`	1	--	us2k¹		0	--	--	--	--
rs181865436^1,2		--	57563041(+)	`AGGTGA/GTTGCT`	1	--	us2k¹		0	--	--	--	--
rs138031127^1,2		--	57563147(+)	`GCAGCA/GTCCAC`	1	--	us2k¹		0	--	--	--	--
rs7266693^1,2	C,F	--	57563153(+)	`TCCACT/CGGCTC`	1	--	us2k¹		6		NA WA EA	364
rs116968870^1,2	C,F	--	57563168(+)	`CTTCCG/AAGCCA`	1	--	us2k¹		1		NA	120

HapMap Linkage Disequilibrium report for TUBB1 (57594309 - 57601709 bp)

Structural Variations
Database of Genomic Variants (DGV) variations for TUBB1: --
Human Gene Mutation Database (HGMD): TUBB1

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing TUBB1

DNA2.0 Custom Variant and Variant Library Synthesis for TUBB1

(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, Sets of similar genes according to GenesLikeMe)
About This Section

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

Macrothrombocytopenia, autosomal dominant, TUBB1-related (MAD-TUBB1) [MIM:613112]: A congenital blood

disorder characterized by increased platelet size and decreased number of circulating platelets. Note=The disease

is caused by mutations affecting the gene represented in this entry

2 diseases for TUBB1:
About MalaCards

macrothrombocytopenia, autosomal dominant, tubb1-related bleeding disorder, platelet-type, 16, autosomal dominant

Find genes that share disorders with TUBB1 About GenesLikeMe

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)
About This Section

PubMed articles for TUBB1 gene, integrated from 10 sources (see all 74):
(articles sorted by number of sources associating them with TUBB1)

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. (Blood 2005)
Study of 18 functional hemostatic polymorphisms in mucocutaneous bleeding disorders. (PubMed id 20532885)^{1, 4} AntA^n A.I....Mezzano D. (Ann. Hematol. 2010)
Tumoral and tissue-specific expression of the major human beta- tubulin isotypes. (PubMed id 20191564)^{1, 2} Leandro-Garcia L.J....Rodriguez-Antona C. (Cytoskeleton 2010)
Genotype-phenotype relationship for six common polymorphisms in genes affecting platelet function from 286 healthy subjects and 160 patients with mucocutaneous bleeding of unknown cause. (PubMed id 19388931)^{1, 4} MartA-nez C....Rivera J. (Br. J. Haematol. 2009)
Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. (PubMed id 18849486)^{1, 2} Kunishima S.... Saito H. (Blood 2009)
TUBB1 Q43P polymorphism does not protect against acute coronary syndrome and premature myocardial infarction. (PubMed id 19132255)^{1, 4} Navarro-NA_A+ez L....MartA-nez C. (Thromb. Haemost. 2008)
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. (Genome Res. 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. (Nat. Biotechnol. 2003)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (Nature 2001)
Poly(ADP-ribose) polymerase-1 modulates Nrf2-dependent transcription. (PubMed id 24140708)¹ Wu T....Zhang D.D. (amp 2014)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(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)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

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:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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TUBB1 Gene

Tubulin, Beta 1 Class VI

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TUBB1 Gene

Tubulin, Beta 1 Class VI

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