TBCE

Protein identityUniProt · HPA

UniProt accession

Q15813

Gene

TBCE

Ensembl

ENSG00000284770

Chromosome

1

Canonical length

527 aa

Protein class

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

OverviewNCBI Gene

Cofactor E is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

527 residues, UniProt reviewed canonical sequence.

>Q15813|TBCE
     1  MSDTLTADVI GRRVEVNGEH ATVRFAGVVP PVAGPWLGVE WDNPERGKHD GSHEGTVYFK
    61  CRHPTGGSFI RPNKVNFGTD FLTAIKNRYV LEDGPEEDRK EQIVTIGNKP VETIGFDSIM
   121  KQQSQLSKLQ EVSLRNCAVS CAGEKGGVAE ACPNIRKVDL SKNLLSSWDE VIHIADQLRH
   181  LEVLNVSENK LKFPSGSVLT GTLSVLKVLV LNQTGITWAE VLRCVAGCPG LEELYLESNN
   241  IFISERPTDV LQTVKLLDLS SNQLIDENQL YLIAHLPRLE QLILSDTGIS SLHFPDAGIG
   301  CKTSMFPSLK YLVVNDNQIS QWSFFNELEK LPSLRALSCL RNPLTKEDKE AETARLLIIA
   361  SIGQLKTLNK CEILPEERRR AELDYRKAFG NEWKQAGGHK DPEKNRLSEE FLTAHPRYQF
   421  LCLKYGAPED WELKTQQPLM LKNQLLTLKI KYPHQLDQKV LEKQLPGSMT IQKVKGLLSR
   481  LLKVPVSDLL LSYESPKKPG REIELENDLK SLQFYSVENG DCLLVRW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBCE 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)

0.28

Highest tissue expression

9.7 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBCE.

Disease | AllUniProt

Conditions TBCE is implicated in, by any mechanism.

• Hypoparathyroidism-retardation-dysmorphism syndrome (HRDS) MIM:241410
• Kenny-Caffey syndrome 1 (KCS1) MIM:244460
• Encephalopathy, progressive, with amyotrophy and optic atrophy (PEAMO) MIM:617207

Disease | GeneticClinVar

63 pathogenic / likely-pathogenic of 648 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hypoparathyroidism-retardation-dysmorphism syndrome
• Encephalopathy, progressive, with amyotrophy and optic atrophy
• Autosomal recessive Kenny-Caffey syndrome
• TBCE-related disorder
• Inborn genetic diseases

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)

0.81

gnomAD pLI

0

gnomAD missense Z

0.12

DepMap mean gene effect

-0.64

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adult locomotory behavior
• developmental growth
• microtubule cytoskeleton organization
• mitotic spindle organization
• muscle atrophy
• peripheral nervous system neuron axonogenesis
• post-chaperonin tubulin folding pathway
• post-embryonic development
• protein folding
• tubulin complex assembly

Molecular functions

• alpha-tubulin binding
• protein-folding chaperone binding

Cellular components

• cytoplasm
• microtubule

Protein domainsUniProt · Pfam · InterPro

• Ubiquitin-like domain
• CAP Gly-rich domain
• Ubiquitin-like domain superfamily
• Leucine-rich repeat domain superfamily
• CAP Gly-rich domain superfamily
• CAP-Gly domain
• Ubiquitin-like domain
• TBCE, ubiquitin-like (Ubl) domain

KeywordsUniProt

• Acetylation
• Chaperone
• Cytoplasm
• Cytoskeleton
• Dwarfism
• Intellectual disability
• Leucine-rich repeat
• Neurodegeneration
• Phosphoprotein
• Repeat

InteractionsUniProt · HPA

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

• TBCD