TUBA8

Protein identityUniProt · HPA

UniProt accession

Q9NY65

Gene

TUBA8

Ensembl

ENSG00000183785

Chromosome

22

Canonical length

449 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Microtubules

OverviewNCBI Gene

This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene are associated with polymicrogyria and optic nerve hypoplasia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]

Canonical amino-acid sequenceUniProt

449 residues, UniProt reviewed canonical sequence.

>Q9NY65|TUBA8
     1  MRECISVHVG QAGVQIGNAC WELFCLEHGI QADGTFDAQA SKINDDDSFT TFFSETGNGK
    61  HVPRAVMIDL EPTVVDEVRA GTYRQLFHPE QLITGKEDAA NNYARGHYTV GKESIDLVLD
   121  RIRKLTDACS GLQGFLIFHS FGGGTGSGFT SLLMERLSLD YGKKSKLEFA IYPAPQVSTA
   181  VVEPYNSILT THTTLEHSDC AFMVDNEAIY DICRRNLDIE RPTYTNLNRL ISQIVSSITA
   241  SLRFDGALNV DLTEFQTNLV PYPRIHFPLV TYAPIISAEK AYHEQLSVAE ITSSCFEPNS
   301  QMVKCDPRHG KYMACCMLYR GDVVPKDVNV AIAAIKTKRT IQFVDWCPTG FKVGINYQPP
   361  TVVPGGDLAK VQRAVCMLSN TTAIAEAWAR LDHKFDLMYA KRAFVHWYVG EGMEEGEFSE
   421  AREDLAALEK DYEEVGTDSF EEENEGEEF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TUBA8 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

311 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TUBA8.

Disease | AllUniProt

Conditions TUBA8 is implicated in, by any mechanism.

• Macrothrombocytopenia, isolated, 2, autosomal dominant (MACTHC2) MIM:619840

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 382 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Macrothrombocytopenia, isolated, 2, autosomal dominant

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)

1.1

gnomAD pLI

0

gnomAD missense Z

0.63

DepMap mean gene effect

-0.08

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
• mitotic cell cycle
• spermatid development

Molecular functions

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

Cellular components

• acrosomal vesicle
• cytoplasm
• microtubule
• microtubule cytoskeleton

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

• Cytoplasm
• Cytoskeleton
• GTP-binding
• Hydrolase
• Magnesium
• Metal-binding
• Microtubule
• Nucleotide-binding