Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TBCE Gene

Aliases for TBCE Gene

  • Tubulin Folding Cofactor E 2 3
  • Hypoparathyroidism, Growth And Mental Retardation, And Dysmorphism 2 3
  • Tubulin-Specific Chaperone E 2 3
  • KCS1 3 6
  • HRD 3 6
  • KCS 3 6
  • Tubulin-Folding Cofactor E 4
  • Kenny-Caffey Syndrome 2
  • Pac2 3

External Ids for TBCE Gene

Previous HGNC Symbols for TBCE Gene

  • KCS
  • HRD

Previous GeneCards Identifiers for TBCE Gene

  • GC01P233663
  • GC01P230984
  • GC01P231827
  • GC01P232571
  • GC01P231856
  • GC01P235530
  • GC01P205979

Summaries for TBCE Gene

Entrez Gene Summary for TBCE 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]

GeneCards Summary for TBCE Gene

TBCE (Tubulin Folding Cofactor E) is a Protein Coding gene. Diseases associated with TBCE include hypoparathyroidism-retardation-dysmorphism syndrome and kenny-caffey syndrome-1. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Protein folding. GO annotations related to this gene include chaperone binding. An important paralog of this gene is TBCEL.

UniProtKB/Swiss-Prot for TBCE Gene

  • Tubulin-folding protein; involved in the second step of the tubulin folding pathway. Seems to be implicated in the maintenance of the neuronal microtubule network. Involved in regulation of tubulin heterodimer dissociation.

Gene Wiki entry for TBCE Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBCE Gene

Genomics for TBCE Gene

Regulatory Elements for TBCE Gene

Genomic Location for TBCE Gene

Start:
235,367,360 bp from pter
End:
235,448,968 bp from pter
Size:
81,609 bases
Orientation:
Plus strand

Genomic View for TBCE Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TBCE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBCE Gene

Proteins for TBCE Gene

  • Protein details for TBCE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15813-TBCE_HUMAN
    Recommended name:
    Tubulin-specific chaperone E
    Protein Accession:
    Q15813
    Secondary Accessions:
    • A8K8C2
    • B7Z3P1

    Protein attributes for TBCE Gene

    Size:
    527 amino acids
    Molecular mass:
    59346 Da
    Quaternary structure:
    • Supercomplex made of cofactors A to E. Cofactors A and D function by capturing and stabilizing tubulin in a quasi-native conformation. Cofactor E binds to the cofactor D-tubulin complex; interaction with cofactor C then causes the release of tubulin polypeptides that are committed to the native state. Cofactors B and E can form a heterodimer which binds to alpha-tubulin and enhances their ability to dissociate tubulin heterodimers

    Three dimensional structures from OCA and Proteopedia for TBCE Gene

    Alternative splice isoforms for TBCE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBCE Gene

Proteomics data for TBCE Gene at MOPED

Post-translational modifications for TBCE Gene

  • Ubiquitination at Lys192
  • Modification sites at PhosphoSitePlus

Other Protein References for TBCE Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for TBCE Gene

Domains for TBCE Gene

Protein Domains for TBCE Gene

Suggested Antigen Peptide Sequences for TBCE Gene

Graphical View of Domain Structure for InterPro Entry

Q15813

UniProtKB/Swiss-Prot:

TBCE_HUMAN :
  • Q15813
Domain:
  • Contains 1 CAP-Gly domain.
  • Contains 1 LRRCT domain.
Family:
  • Belongs to the TBCE family.
Similarity:
  • Contains 7 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with TBCE: view

No data available for Gene Families for TBCE Gene

Function for TBCE Gene

Molecular function for TBCE Gene

UniProtKB/Swiss-Prot Function: Tubulin-folding protein; involved in the second step of the tubulin folding pathway. Seems to be implicated in the maintenance of the neuronal microtubule network. Involved in regulation of tubulin heterodimer dissociation.

Gene Ontology (GO) - Molecular Function for TBCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003735 structural constituent of ribosome --
GO:0051087 chaperone binding TAS 8706133
genes like me logo Genes that share ontologies with TBCE: view
genes like me logo Genes that share phenotypes with TBCE: view

miRNA for TBCE Gene

miRTarBase miRNAs that target TBCE

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TBCE Gene

Localization for TBCE Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBCE Gene

Cytoplasm. Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBCE Gene COMPARTMENTS Subcellular localization image for TBCE gene
Compartment Confidence
cytoskeleton 4
cytosol 2
endoplasmic reticulum 2
plasma membrane 2
golgi apparatus 1
nucleus 1

Gene Ontology (GO) - Cellular Components for TBCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005737 cytoplasm IEA --
GO:0005840 ribosome --
GO:0005874 microtubule TAS 8706133
genes like me logo Genes that share ontologies with TBCE: view

Pathways for TBCE Gene

genes like me logo Genes that share pathways with TBCE: view

Pathways by source for TBCE Gene

Gene Ontology (GO) - Biological Process for TBCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IEA --
GO:0006412 translation --
GO:0006457 protein folding TAS 8706133
GO:0007023 post-chaperonin tubulin folding pathway IDA 11847227
GO:0007409 axonogenesis --
genes like me logo Genes that share ontologies with TBCE: view

Transcripts for TBCE Gene

Unigene Clusters for TBCE Gene

Tubulin folding cofactor E:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBCE Gene

No ASD Table

Relevant External Links for TBCE Gene

GeneLoc Exon Structure for
TBCE
ECgene alternative splicing isoforms for
TBCE

Expression for TBCE Gene

mRNA expression in normal human tissues for TBCE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TBCE Gene

SOURCE GeneReport for Unigene cluster for TBCE Gene Hs.744998

genes like me logo Genes that share expressions with TBCE: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TBCE Gene

Orthologs for TBCE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TBCE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBCE 35
  • 99.42 (n)
  • 99.31 (a)
TBCE 36
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBCE 35
  • 83.93 (n)
  • 82.16 (a)
TBCE 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBCE 35
  • 84.38 (n)
  • 81.4 (a)
TBCE 36
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbce 35
  • 79.8 (n)
  • 74.95 (a)
Tbce 16
Tbce 36
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBCE 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBCE 36
  • 53 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbce 35
  • 79.6 (n)
  • 75.72 (a)
chicken
(Gallus gallus)
Aves TBCE 35
  • 65.59 (n)
  • 62.43 (a)
TBCE 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBCE 36
  • 55 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.18306 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.12460 35
tbce 35
  • 64.11 (n)
  • 58.43 (a)
zebrafish
(Danio rerio)
Actinopterygii tbce 35
  • 57.8 (n)
  • 53.01 (a)
tbce 36
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010770 35
  • 41.65 (n)
  • 33.4 (a)
fruit fly
(Drosophila melanogaster)
Insecta tbce 35
  • 43.01 (n)
  • 33.6 (a)
tbce 36
  • 26 (a)
OneToOne
CG7861 37
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea K07H8.1 35
  • 42.92 (n)
  • 34.58 (a)
K07H8.1 36
  • 25 (a)
OneToOne
K07H8.1 37
  • 29 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PAC2 36
  • 20 (a)
OneToMany
PAC2 38
thale cress
(Arabidopsis thaliana)
eudicotyledons PFI 35
  • 42.21 (n)
  • 30.52 (a)
rice
(Oryza sativa)
Liliopsida Os05g0105300 35
  • 44.65 (n)
  • 36.48 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09139 35
  • 43.43 (n)
  • 32.68 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 27 (a)
OneToOne
Species with no ortholog for TBCE:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBCE Gene

ENSEMBL:
Gene Tree for TBCE (if available)
TreeFam:
Gene Tree for TBCE (if available)

Paralogs for TBCE Gene

Paralogs for TBCE Gene

genes like me logo Genes that share paralogs with TBCE: view

Variants for TBCE Gene

Sequence variations from dbSNP and Humsavar for TBCE Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs867363 -- 235,416,412(+) TCCCA(A/G)CTATT intron-variant
rs868815 -- 235,421,228(+) ATTGC(C/G)AGACC intron-variant
rs883675 -- 235,416,931(-) gctta(G/T)aaaca intron-variant
rs903347 -- 235,423,298(+) TTGAA(C/T)GGTGT intron-variant
rs903348 -- 235,408,028(-) AGTCA(A/G)ATTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBCE Gene

Variant ID Type Subtype PubMed ID
dgv30n21 CNV Gain 19592680
nsv873321 CNV Gain 21882294
esv2667227 CNV Deletion 23128226
esv2523478 CNV Deletion 19546169
nsv471774 CNV Loss 16327809
esv1003266 CNV Deletion 20482838
esv2660698 CNV Deletion 23128226
nsv468406 CNV Gain 19166990
nsv873322 CNV Gain 21882294
nsv509668 CNV Insertion 20534489
nsv4954 CNV Insertion 18451855
esv2673804 CNV Deletion 23128226
dgv549n71 CNV Gain 21882294

Relevant External Links for TBCE Gene

HapMap Linkage Disequilibrium report
TBCE
Human Gene Mutation Database (HGMD)
TBCE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBCE Gene

Disorders for TBCE Gene

(2) OMIM Diseases for TBCE Gene (604934)

UniProtKB/Swiss-Prot

TBCE_HUMAN
  • Hypoparathyroidism-retardation-dysmorphism syndrome (HRD) [MIM:241410]: Autosomal recessive disorder reported almost exclusively in Middle Eastern populations. {ECO:0000269 PubMed:12389028}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Kenny-Caffey syndrome 1 (KCS1) [MIM:244460]: An autosomal recessive form of Kenny-Caffey syndrome, a disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face. {ECO:0000269 PubMed:12389028}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for TBCE Gene

(2) Novoseek inferred disease relationships for TBCE Gene

Disease -log(P) Hits PubMed IDs
sanjad-sakati syndrome 98.8 4
hypoparathyroidism 80.2 1

Relevant External Links for TBCE

Genetic Association Database (GAD)
TBCE
Human Genome Epidemiology (HuGE) Navigator
TBCE
genes like me logo Genes that share disorders with TBCE: view

Publications for TBCE Gene

  1. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. (PMID: 12389028) Parvari R. … Gelb B.D. (Nat. Genet. 2002) 2 3 4 23
  2. Pathway leading to correctly folded beta-tubulin. (PMID: 8706133) Tian G. … Cowan N.J. (Cell 1996) 2 3 4
  3. The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43. (PMID: 9806825) Diaz G.A. … Gelb B.D. (Genomics 1998) 2 3
  4. Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum. (PMID: 19491227) Padidela R. … Dattani M.T. (J. Clin. Endocrinol. Metab. 2009) 3 23
  5. A missense mutation in Tbce causes progressive motor neuronopathy in mice. (PMID: 12389029) Martin N. … GuAcnet J.L. (Nat. Genet. 2002) 3 23

Products for TBCE Gene

Sources for TBCE Gene

Back to Top

Content