TUBB8

Protein identityUniProt · HPA

UniProt accession

Q3ZCM7

Gene

TUBB8

Ensembl

ENSG00000261456

Chromosome

10

Canonical length

444 aa

Protein class

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

Subcellular location

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

OverviewNCBI Gene

The protein encoded by this gene represents the primary beta-tubulin subunit of oocytes and the early embryo. Defects in this gene, which is primate-specific, are a cause of oocyte maturation defect 2 and infertility. [provided by RefSeq, Mar 2016]

Canonical amino-acid sequenceUniProt

444 residues, UniProt reviewed canonical sequence.

>Q3ZCM7|TUBB8
     1  MREIVLTQIG QCGNQIGAKF WEVISDEHAI DSAGTYHGDS HLQLERINVY YNEASGGRYV
    61  PRAVLVDLEP GTMDSVRSGP FGQVFRPDNF IFGQCGAGNN WAKGHYTEGA ELMESVMDVV
   121  RKEAESCDCL QGFQLTHSLG GGTGSGMGTL LLSKIREEYP DRIINTFSIL PSPKVSDTVV
   181  EPYNATLSVH QLIENADETF CIDNEALYDI CSKTLKLPTP TYGDLNHLVS ATMSGVTTCL
   241  RFPGQLNADL RKLAVNMVPF PRLHFFMPGF APLTSRGSQQ YRALTVAELT QQMFDAKNMM
   301  AACDPRHGRY LTAAAIFRGR MPMREVDEQM FNIQDKNSSY FADWLPNNVK TAVCDIPPRG
   361  LKMSATFIGN NTAIQELFKR VSEQFTAMFR RKAFLHWYTG EGMDEMEFTE AESNMNDLVS
   421  EYQQYQDATA EEEEDEEYAE EEVA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TUBB8 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

2.3 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TUBB8.

Disease | AllUniProt

Conditions TUBB8 is implicated in, by any mechanism.

• Oocyte/zygote/embryo maturation arrest 2 (OZEMA2) MIM:616780

Disease | GeneticClinVar

47 pathogenic / likely-pathogenic of 113 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Oocyte maturation defect 2
• Inherited oocyte maturation defect

Disease | ImmuneIEDB

Conditions an epitope on TUBB8 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)

1.53

gnomAD pLI

0.02

gnomAD missense Z

1.86

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
• oocyte maturation
• spindle assembly involved in female meiosis

Molecular functions

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

Cellular components

• cytoplasm
• extracellular exosome
• intercellular bridge
• meiotic spindle
• 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 TUBB8 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TUBB
• TUBB2A