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Aliases for TBCE Gene

Aliases for TBCE Gene

  • Tubulin Folding Cofactor E 2 3 5
  • Hypoparathyroidism, Growth And Mental Retardation, And Dysmorphism 2 3
  • Tubulin-Specific Chaperone E 2 3
  • Tubulin-Folding Cofactor E 4
  • Kenny-Caffey Syndrome 2
  • PEAMO 3
  • PAC2 3
  • KCS1 3
  • HRD 3
  • KCS 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, Type 1. Among its related pathways are Chaperonin-mediated protein folding and Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding. GO annotations related to this gene include structural constituent of ribosome and 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 and in the regulation of tubulin heterodimer dissociation. Required for correct organization of microtubule cytoskeleton and mitotic splindle, and maintenance of the neuronal microtubule network.

Gene Wiki entry for TBCE Gene

Additional gene information for TBCE Gene

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

Genomics for TBCE Gene

Regulatory Elements for TBCE Gene


Enhancers around TBCE on UCSC Golden Path with GeneCards custom track

Promoters for TBCE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000022247 340 1801 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 YY1 SLC30A9

Genomic Location for TBCE Gene

Chromosome:
1
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

Genes around TBCE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBCE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (By similarity). Interacts with TBCD (PubMed:27666374).

    Three dimensional structures from OCA and Proteopedia for TBCE Gene

    Alternative splice isoforms for TBCE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBCE Gene

Post-translational modifications for TBCE Gene

  • Ubiquitination at Lys192
  • Modification sites at PhosphoSitePlus

Other Protein References for TBCE Gene

Antibody Products

  • Abcam antibodies for TBCE
  • Santa Cruz Biotechnology (SCBT) Antibodies for TBCE

No data available for DME Specific Peptides for TBCE Gene

Domains & Families for TBCE Gene

Gene Families for TBCE Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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 :
  • Belongs to the TBCE family.
Family:
  • Belongs to the TBCE family.
genes like me logo Genes that share domains with TBCE: view

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 and in the regulation of tubulin heterodimer dissociation. Required for correct organization of microtubule cytoskeleton and mitotic splindle, and maintenance of the neuronal microtubule network.

Phenotypes From GWAS Catalog for TBCE Gene

Gene Ontology (GO) - Molecular Function for TBCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27666374
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

Human Phenotype Ontology for TBCE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for TBCE Gene

miRTarBase miRNAs that target TBCE

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TBCE
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBCE gene
Compartment Confidence
cytoskeleton 5
cytosol 4
plasma membrane 3
endoplasmic reticulum 2
nucleus 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TBCE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule TAS 8706133
genes like me logo Genes that share ontologies with TBCE: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TBCE Gene

Pathways & Interactions 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 IMP 27666369
GO:0006457 protein folding TAS 8706133
GO:0007023 post-chaperonin tubulin folding pathway IDA 11847227
GO:0007052 mitotic spindle organization IMP 27666369
GO:0007409 axonogenesis IEA --
genes like me logo Genes that share ontologies with TBCE: view

No data available for SIGNOR curated interactions for TBCE Gene

Drugs & Compounds for TBCE Gene

No Compound Related Data Available

Transcripts for TBCE Gene

Unigene Clusters for TBCE Gene

Tubulin folding cofactor E:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TBCE
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for TBCE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TBCE Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.9) and Stomach (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBCE Gene



Protein tissue co-expression partners for TBCE Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBCE Gene:

TBCE

SOURCE GeneReport for Unigene cluster for TBCE Gene:

Hs.744998

Evidence on tissue expression from TISSUES for TBCE Gene

  • Nervous system(4.7)
  • Eye(4.3)
  • Heart(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TBCE Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • parathyroid
  • pharynx
  • skull
  • thyroid
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
  • pancreas
Pelvis:
  • pelvis
  • penis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with TBCE: view

Primer Products

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 33 34
  • 99.42 (n)
dog
(Canis familiaris)
Mammalia TBCE 33 34
  • 84.38 (n)
cow
(Bos Taurus)
Mammalia TBCE 33 34
  • 83.93 (n)
mouse
(Mus musculus)
Mammalia Tbce 33 16 34
  • 79.8 (n)
rat
(Rattus norvegicus)
Mammalia Tbce 33
  • 79.6 (n)
oppossum
(Monodelphis domestica)
Mammalia TBCE 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBCE 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBCE 33 34
  • 65.59 (n)
lizard
(Anolis carolinensis)
Reptilia TBCE 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbce 33
  • 64.11 (n)
Str.12460 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.18306 33
zebrafish
(Danio rerio)
Actinopterygii tbce 33 34
  • 57.8 (n)
fruit fly
(Drosophila melanogaster)
Insecta tbce 33 34
  • 43.01 (n)
CG7861 35
  • 30 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010770 33
  • 41.65 (n)
worm
(Caenorhabditis elegans)
Secernentea K07H8.1 35 33 34
  • 42.92 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PAC2 34 36
  • 20 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons PFI 33
  • 42.21 (n)
rice
(Oryza sativa)
Liliopsida Os05g0105300 33
  • 44.65 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU09139 33
  • 43.43 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 27 (a)
OneToOne
Species where no ortholog for TBCE was found in the sources mined by GeneCards:
  • 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
rs780472451 Pathogenic, Encephalopathy, progressive, with amyotrophy and optic atrophy (PEAMO) [MIM:617207] 235,427,143(+) AGATA(A/T)CAGAA reference, missense
rs121908384 Pathogenic 235,437,471(+) AAATG(A/T)GAGGT reference, stop-gained
rs750781063 Pathogenic 235,436,568(+) CCCAT(-/C)CTTGA reference, frameshift-variant
rs767004810 Pathogenic 235,401,553(+) ATGAT(-/GGGAGCCACGAA)GGGAC intron-variant, cds-indel
rs786205075 Pathogenic 235,401,556(+) ATGGG(-/AGCCACGAAGGG)ACTGT intron-variant, cds-indel

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

Variant ID Type Subtype PubMed ID
dgv30n21 CNV gain 19592680
dgv586n100 CNV gain 25217958
dgv587n100 CNV gain 25217958
esv1003266 CNV deletion 20482838
esv2523478 CNV deletion 19546169
esv2660698 CNV deletion 23128226
esv2667227 CNV deletion 23128226
esv2673804 CNV deletion 23128226
esv3548766 CNV deletion 23714750
esv3575794 CNV gain 25503493
esv3575806 CNV gain 25503493
esv3589194 CNV loss 21293372
esv3589195 CNV loss 21293372
esv3589196 CNV loss 21293372
nsv1011288 CNV gain 25217958
nsv1012106 CNV loss 25217958
nsv1013571 CNV gain 25217958
nsv1152212 CNV duplication 26484159
nsv468406 CNV gain 19166990
nsv471774 CNV loss 16327809
nsv478367 CNV novel sequence insertion 20440878
nsv4954 CNV insertion 18451855
nsv509668 CNV insertion 20534489
nsv549392 CNV gain 21841781
nsv549393 CNV gain 21841781

Variation tolerance for TBCE Gene

Residual Variation Intolerance Score: 82.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.20; 52.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBCE Gene

Human Gene Mutation Database (HGMD)
TBCE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBCE

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

Disorders for TBCE Gene

MalaCards: The human disease database

(12) MalaCards diseases for TBCE Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TBCE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TBCE_HUMAN
  • Encephalopathy, progressive, with amyotrophy and optic atrophy (PEAMO) [MIM:617207]: An autosomal recessive, progressive, neurodegenerative encephalopathy with onset in infancy. Affected individuals manifest delayed psychomotor development, severe hypotonia, motor regression, spinal muscular atrophy, distal amyotrophy and weakness of all limbs, and intellectual disability of variable severity. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy. {ECO:0000269 PubMed:27666369}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hypoparathyroidism-retardation-dysmorphism syndrome (HRDS) [MIM:241410]: An autosomal recessive multisystem disorder characterized by hypoparathyroidism, intrauterine and postnatal growth retardation, psychomotor retardation, epilepsy, microcephaly, and facial dysmorphism. {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.

Relevant External Links for TBCE

Genetic Association Database (GAD)
TBCE
Human Genome Epidemiology (HuGE) Navigator
TBCE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBCE
genes like me logo Genes that share disorders with TBCE: view

No data available for Genatlas for TBCE Gene

Publications for TBCE Gene

  1. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. (PMID: 12389028) Parvari R … HRD/Autosomal Recessive Kenny-Caffey Syndrome Consortium (Nature genetics 2002) 2 3 4 22 60
  2. Pathway leading to correctly folded beta-tubulin. (PMID: 8706133) Tian G … Cowan NJ (Cell 1996) 2 3 4 60
  3. Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. (PMID: 27666374) Miyake N … Matsumoto N (American journal of human genetics 2016) 3 4 60
  4. TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy. (PMID: 27666369) Sferra A … Bertini E (American journal of human genetics 2016) 3 4 60
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60

Products for TBCE Gene

Sources for TBCE Gene

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