TUBB1

Protein identityUniProt · HPA

UniProt accession

Q9H4B7

Gene

TUBB1

Ensembl

ENSG00000101162

Chromosome

20

Canonical length

451 aa

Protein class

Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transporters

Subcellular location

Microtubules,Cytokinetic bridge,Mitotic spindle,Primary cilium,Basal body,Flagellar centriole,Principal piece,End piece

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

451 residues, UniProt reviewed canonical sequence.

>Q9H4B7|TUBB1
     1  MREIVHIQIG QCGNQIGAKF WEMIGEEHGI DLAGSDRGAS ALQLERISVY YNEAYGRKYV
    61  PRAVLVDLEP GTMDSIRSSK LGALFQPDSF VHGNSGAGNN WAKGHYTEGA ELIENVLEVV
   121  RHESESCDCL QGFQIVHSLG GGTGSGMGTL LMNKIREEYP DRIMNSFSVM PSPKVSDTVV
   181  EPYNAVLSIH QLIENADACF CIDNEALYDI CFRTLKLTTP TYGDLNHLVS LTMSGITTSL
   241  RFPGQLNADL RKLAVNMVPF PRLHFFMPGF APLTAQGSQQ YRALSVAELT QQMFDARNTM
   301  AACDLRRGRY LTVACIFRGK MSTKEVDQQL LSVQTRNSSC FVEWIPNNVK VAVCDIPPRG
   361  LSMAATFIGN NTAIQEIFNR VSEHFSAMFK RKAFVHWYTS EGMDINEFGE AENNIHDLVS
   421  EYQQFQDAKA VLEEDEEVTE EAEMEPEDKG H

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TUBB1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.23

Highest tissue expression

8 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TUBB1.

Disease | AllUniProt

Conditions TUBB1 is implicated in, by any mechanism.

• Macrothrombocytopenia, isolated, 1, autosomal dominant (MACTHC1) MIM:613112

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 336 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Macrothrombocytopenia, isolated, 1, autosomal dominant
• TUBB1-related disorder
• Macrothrombocytopenia
• Congenital hypothyroidism
• Thrombocytopenia

Disease | ImmuneIEDB

Conditions an epitope on TUBB1 was assayed in.

• multiple sclerosis B cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.35

gnomAD pLI

0

gnomAD missense Z

0

DepMap mean gene effect

-0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• microtubule cytoskeleton organization
• microtubule polymerization
• mitotic cell cycle
• platelet aggregation
• platelet formation
• spindle assembly
• thyroid gland development
• thyroid hormone transport

Molecular functions

• GTP binding
• GTPase activity
• metal ion binding
• structural constituent of cytoskeleton

Cellular components

• cytoplasm
• extracellular exosome
• intercellular bridge
• microtubule
• microtubule cytoskeleton
• mitotic spindle

Protein domainsUniProt · Pfam · InterPro

• Tubulin
• Beta tubulin
• Tubulin/FtsZ, GTPase domain
• Tubulin/FtsZ, C-terminal
• Beta tubulin, autoregulation binding site
• Tubulin, conserved site
• Tubulin/FtsZ, 2-layer sandwich domain
• Tubulin, C-terminal
• Tubulin/FtsZ, GTPase domain superfamily
• Tubulin/FtsZ-like, C-terminal domain
• Tubulin/FtsZ family, GTPase domain
• Tubulin C-terminal domain

KeywordsUniProt

• Cytoplasm
• Cytoskeleton
• GTP-binding
• Isopeptide bond
• Magnesium
• Metal-binding
• Microtubule
• Nucleotide-binding
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of TUBB1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RANBP10
• CRIPT