TUBA3E

Protein identityUniProt · HPA

UniProt accession

Q6PEY2

Gene

TUBA3E

Ensembl

ENSG00000152086

Chromosome

2

Canonical length

450 aa

Protein class

Predicted intracellular proteins

Subcellular location

Microtubules,Primary cilium

OverviewNCBI Gene

Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. This gene encodes an alpha tubulin that highly conserved among species. A missense mutation in this gene has been potentially linked to microlissencephaly and global developmental delay. [provided by RefSeq, Jul 2016]

Canonical amino-acid sequenceUniProt

450 residues, UniProt reviewed canonical sequence.

>Q6PEY2|TUBA3E
     1  MRECISIHVG QAGVQIGNAC WELYCLEHGI QPDGQMPSDK TIGGGDDSFN TFFSETGAGK
    61  HVPRAVFVDL EPTVVDEVRT GTYRQLFHPE QLITGKEDAA SNYARGHYTI GKEIVDLVLD
   121  RIRKLADLCT GLQGFLIFHS FGGGTGSGFA SLLMERLSVD YSKKSKLEFA IYPAPQVSTA
   181  VVEPYNSILT THTTLEHSDC AFMVDNEAIY DICRRNLDIE RPTYTNLNRL IGQIVSSITA
   241  SLRFDGALNV DLTEFQTNLV PYPRIHFPLA TYAPVISAEK AYHEQLSVAE ITNACFEPAN
   301  QMVKCDPRHG KYMACCMLYR GDVVPKDVNA AIATIKTKRT IQFVDWCPTG FKVGINYQPP
   361  TVVPGGDLAK VQRAVCMLSN TTAIAEAWAR LVHKFDLMYA KWAFVHWYVG EGMEEGEFSE
   421  AREDLAALEK DCEEVGVDSV EAEAEEGEAY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TUBA3E 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)

0.22

Highest tissue expression

169 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TUBA3E.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 59 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Primary microcephaly
• Seizure
• Lissencephaly
• Global developmental delay

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)

1.36

gnomAD pLI

0

gnomAD missense Z

-0.3

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• microtubule cytoskeleton organization
• mitotic cell cycle

Molecular functions

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

Cellular components

• cilium
• cytoplasm
• microtubule
• microtubule cytoskeleton
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Tubulin
• Alpha tubulin
• Tubulin/FtsZ, GTPase domain
• Tubulin/FtsZ, C-terminal
• 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

• Acetylation
• Cytoplasm
• Cytoskeleton
• GTP-binding
• Hydrolase
• Magnesium
• Metal-binding
• Methylation
• Microtubule
• Nitration
• Nucleotide-binding
• Phosphoprotein