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Aliases for TBCB Gene

Aliases for TBCB Gene

  • Tubulin Folding Cofactor B 2 3 5
  • Cytoskeleton-Associated Protein CKAPI 3 4
  • Cytoskeleton-Associated Protein 1 2 4
  • Cytoskeleton Associated Protein 1 2 3
  • Tubulin-Specific Chaperone B 3 4
  • CKAP1 3 4
  • CG22 3 4
  • Tubulin-Folding Cofactor B 3
  • CKAPI 3

External Ids for TBCB Gene

Previous HGNC Symbols for TBCB Gene

  • CKAP1

Previous GeneCards Identifiers for TBCB Gene

  • GC19P041299
  • GC19P036605
  • GC19P033111
  • GC19P036115
  • GC19P036122

Summaries for TBCB Gene

GeneCards Summary for TBCB Gene

TBCB (Tubulin Folding Cofactor B) is a Protein Coding gene. Diseases associated with TBCB include Hypoparathyroidism-Retardation-Dysmorphism Syndrome. Among its related pathways are Chaperonin-mediated protein folding and Metabolism of proteins. An important paralog of this gene is CEP350.

UniProtKB/Swiss-Prot for TBCB Gene

  • Binds to alpha-tubulin folding intermediates after their interaction with cytosolic chaperonin in the pathway leading from newly synthesized tubulin to properly folded heterodimer (PubMed:9265649). Involved in regulation of tubulin heterodimer dissociation. May function as a negative regulator of axonal growth (By similarity).

Gene Wiki entry for TBCB Gene

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

Genomics for TBCB Gene

Regulatory Elements for TBCB Gene

Enhancers for TBCB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G035136 1.4 ENCODE dbSUPER 18.7 -974.8 -974832 5.4 MLX CREB3L1 AGO1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 LSM14A TMEM147-AS1 ZNF792 KIAA0355 RBM42 HAUS5 KMT2B LRFN3 TBCB LINC01801
GH19G035208 2.1 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -901.9 -901865 7.1 CREB3L1 FEZF1 ZNF143 ZNF416 ZNF548 ZNF263 SP3 NFYC TBX21 MEF2D TMEM147-AS1 HAUS5 ZNF792 KMT2B KIAA0355 RBM42 ENSG00000267049 ENSG00000268947 ENSG00000267219 LRFN3
GH19G035328 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -783.3 -783255 5.1 HDGF FOXA2 PKNOX1 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF302 ZNF416 TMEM147-AS1 MAG KMT2B ZNF792 ZNF146 RBM42 CD22 ENSG00000271032 KRTDAP DMKN
GH19G035445 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -666.3 -666250 4.7 PKNOX1 ATF1 DMAP1 YY1 ZNF121 GLIS2 YY2 REST ZNF592 GLIS1 TMEM147-AS1 ZFP82 ZFP14 HAUS5 LINC00665 ZNF146 ZNF565 FFAR2 WTIP NFKBID
GH19G035296 1 dbSUPER 18.7 -816.1 -816064 3.2 HDGF ZNF493 AGO1 ZNF133 ZNF2 TCF12 ZNF121 ZNF302 ZNF416 ZNF207 TMEM147-AS1 ZNF146 HAUS5 ZNF792 RBM42 LRFN3 ZNF565 KMT2B WTIP ENSG00000267219
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TBCB on UCSC Golden Path with GeneCards custom track

Promoters for TBCB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000109113 114 2201 MLX CREB3L1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF416 ZNF548 ZNF263

Genomic Location for TBCB Gene

Chromosome:
19
Start:
36,114,289 bp from pter
End:
36,125,948 bp from pter
Size:
11,660 bases
Orientation:
Plus strand

Genomic View for TBCB Gene

Genes around TBCB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBCB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBCB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBCB Gene

Proteins for TBCB Gene

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

    Protein Symbol:
    Q99426-TBCB_HUMAN
    Recommended name:
    Tubulin-folding cofactor B
    Protein Accession:
    Q99426
    Secondary Accessions:
    • O00111
    • O00674
    • O14728
    • Q6FGY5

    Protein attributes for TBCB Gene

    Size:
    244 amino acids
    Molecular mass:
    27326 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 (PubMed:9265649). 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 GAN (PubMed:16303566). Interacts with DCTN1 (PubMed:22777741).
    SequenceCaution:
    • Sequence=AAB51182.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for TBCB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBCB Gene

Post-translational modifications for TBCB Gene

  • Phosphorylation by PAK1 is required for normal function.
  • Ubiquitinated in the presence of GAN which targets it for degradation by the proteasome.
  • Ubiquitination at Lys106, isoforms=2203, and isoforms=2219
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TBCB Gene

Domains & Families for TBCB Gene

Protein Domains for TBCB Gene

Suggested Antigen Peptide Sequences for TBCB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99426

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for TBCB Gene

Function for TBCB Gene

Molecular function for TBCB Gene

UniProtKB/Swiss-Prot Function:
Binds to alpha-tubulin folding intermediates after their interaction with cytosolic chaperonin in the pathway leading from newly synthesized tubulin to properly folded heterodimer (PubMed:9265649). Involved in regulation of tubulin heterodimer dissociation. May function as a negative regulator of axonal growth (By similarity).

Gene Ontology (GO) - Molecular Function for TBCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16303566
genes like me logo Genes that share ontologies with TBCB: view
genes like me logo Genes that share phenotypes with TBCB: view

Animal Model Products

CRISPR Products

miRNA for TBCB Gene

miRTarBase miRNAs that target TBCB

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBCB Gene

Localization for TBCB Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBCB Gene

Cytoplasm. Cytoplasm, cytoskeleton. Note=Colocalizes with microtubules. In differentiated neurons, located in the cytoplasm. In differentiating neurons, accumulates at the growth cone. {ECO:0000269 PubMed:15831477}.

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 TBCB gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3
extracellular 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for TBCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 22777741
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0015630 microtubule cytoskeleton TAS 8978778
genes like me logo Genes that share ontologies with TBCB: view

Pathways & Interactions for TBCB Gene

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

Pathways by source for TBCB Gene

SIGNOR curated interactions for TBCB Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TBCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with TBCB: view

Drugs & Compounds for TBCB Gene

(12) Drugs for TBCB Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ipratropium Approved Pharma Antagonist 140
Anti-Asthmatic Agents Pharma 3488
Anticonvulsants Pharma 2695
Autonomic Agents Pharma 10150
Bromides Pharma 642
genes like me logo Genes that share compounds with TBCB: view

Transcripts for TBCB Gene

Unigene Clusters for TBCB Gene

Tubulin folding cofactor B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8a · 8b
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - -
SP4: - - - -
SP5: - - - - - - - - -
SP6: - - - - -
SP7: - - - -
SP8: - -
SP9: - - - - - - - - - - - - -
SP10: - -

Relevant External Links for TBCB Gene

GeneLoc Exon Structure for
TBCB
ECgene alternative splicing isoforms for
TBCB

Expression for TBCB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TBCB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TBCB Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.1), Fetal Brain (6.6), and Brain (6.1).

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



Protein tissue co-expression partners for TBCB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBCB Gene:

TBCB

SOURCE GeneReport for Unigene cluster for TBCB Gene:

Hs.31053

mRNA Expression by UniProt/SwissProt for TBCB Gene:

Q99426-TBCB_HUMAN
Tissue specificity: Found in most tissues.

Evidence on tissue expression from TISSUES for TBCB Gene

  • Nervous system(4.9)
  • Bone marrow(4.3)
  • Pancreas(3.6)
  • Lung(3.4)
  • Skin(3.3)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with TBCB: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBCB Gene

Orthologs for TBCB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TBCB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBCB 34 35
  • 99.73 (n)
dog
(Canis familiaris)
Mammalia TBCB 34 35
  • 90.16 (n)
cow
(Bos Taurus)
Mammalia TBCB 34 35
  • 86.75 (n)
mouse
(Mus musculus)
Mammalia Tbcb 34 16 35
  • 85.93 (n)
oppossum
(Monodelphis domestica)
Mammalia TBCB 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBCB 35
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBCB 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbcb 34
  • 63.76 (n)
Str.19899 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.33445 34
zebrafish
(Danio rerio)
Actinopterygii tbcb 34 35
  • 64.33 (n)
Dr.860 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000120 34
  • 56.24 (n)
fruit fly
(Drosophila melanogaster)
Insecta TBCB 34
  • 52.69 (n)
CG11242 35
  • 41 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_F53F4.3 34
  • 48.72 (n)
F53F4.3 35
  • 44 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR054W 34
  • 51.13 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E22859g 34
  • 43.63 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALF1 34 37
  • 41 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G10220 34
  • 48.78 (n)
rice
(Oryza sativa)
Liliopsida Os04g0692100 34
  • 52.05 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 49 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU01713 34
  • 48.25 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes alp11 34
  • 42.58 (n)
Species where no ortholog for TBCB was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • rat (Rattus norvegicus)
  • 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 TBCB Gene

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

Paralogs for TBCB Gene

Variants for TBCB Gene

Sequence variations from dbSNP and Humsavar for TBCB Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000451021 -- 36,115,441(+) GCGGA(G/T)TGGTC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000549581 -- 36,116,748(+) CCCAG(A/C)CTCCC intron-variant, upstream-variant-2KB
rs1000796666 -- 36,119,850(+) GAGAT(C/G)ACACC intron-variant
rs1000881102 -- 36,120,861(+) TGCAG(A/G)TATGA intron-variant
rs1001152552 -- 36,115,513(+) AGCGG(A/G)TGTGA nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv833815 CNV loss 17160897

Variation tolerance for TBCB Gene

Residual Variation Intolerance Score: 29.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.41; 8.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBCB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBCB

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

Disorders for TBCB Gene

MalaCards: The human disease database

(1) MalaCards diseases for TBCB Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hypoparathyroidism-retardation-dysmorphism syndrome
  • hrd syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TBCB in MalaCards View complete list of genes associated with diseases

Relevant External Links for TBCB

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

No data available for UniProtKB/Swiss-Prot and Genatlas for TBCB Gene

Publications for TBCB Gene

  1. Cloning, expression, and mapping of CKAPI, which encodes a putative cytoskeleton-associated protein containing a CAP-Gly domain. (PMID: 8978778) Watanabe T.K. … Hirai Y. (Cytogenet. Cell Genet. 1996) 2 3 4 64
  2. Tubulin-binding cofactor B is a direct interaction partner of the dynactin subunit p150(Glued). (PMID: 22777741) Kuh G.F. … Liebau S. (Cell Tissue Res. 2012) 3 4 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J. … Comb M.J. (Nat. Biotechnol. 2005) 3 4 64
  5. p21-activated kinase 1 regulates microtubule dynamics by phosphorylating tubulin cofactor B. (PMID: 15831477) Vadlamudi R.K. … Kumar R. (Mol. Cell. Biol. 2005) 3 4 64

Products for TBCB Gene

Sources for TBCB Gene

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