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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
  • GC19P036330
  • GC19P036433

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 Metabolism of proteins and Chaperonin-mediated protein folding. An important paralog of this gene is CLIP2.

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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for TBCB Gene

Promoters and enhancers for TBCB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I036113 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 556.9 +1.0 995 3.1 CLOCK MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 SP3 POLR2I TBCB ENSG00000279504 GC19P036626 ZNF567 ZNF566 ZNF529 ZNF461 ZNF345 ZNF260
GH19I035136 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 18.7 -974.8 -974831 5.4 HDGF FOXA2 MLX ARID4B SIN3A YBX1 ZNF2 YY1 ZNF143 ZNF548 ENSG00000221857 FXYD1 ENSG00000279619 ZNF599 TMEM147-AS1 LSM14A HAUS5 KIAA0355 ZNF792 KMT2B
GH19I035897 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 -210.2 -210231 13 CLOCK FEZF1 IRF4 YY1 ZNF213 ZNF143 ZNF548 SP3 NFYC ZFP41 NFKBID TYROBP HCST ENSG00000280194 ZNF567 ZNF566 ZNF790 ZNF529 TMEM147-AS1 ZNF260
GH19I035266 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.9 -845.8 -845828 4.2 HDGF PKNOX1 SMAD1 ARID4B SIN3A ZNF2 IRF4 YY1 POLR2B ZNF766 USF2 ZNF599 HAUS5 TMEM147-AS1 KMT2B PROSER3 ZNF146 ZNF792 ZNF565 RBM42
GH19I035246 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.9 -865.7 -865664 3.4 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF416 ZNF143 LSR RBM42 KMT2B ZNF599 TMEM147-AS1 HAUS5 ZNF792 ZNF30 ZNF302 KIAA0355
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TBCB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TBCB gene promoter:

Genomic Locations for TBCB Gene

Genomic Locations for TBCB Gene
chr19:36,114,289-36,125,948
(GRCh38/hg38)
Size:
11,660 bases
Orientation:
Plus strand
chr19:36,605,191-36,616,849
(GRCh37/hg19)

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 isoforms=2106, isoforms=2203, and posLast=219219
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for TBCB

No data available for DME Specific Peptides for TBCB Gene

Domains & Families for TBCB Gene

Gene Families for TBCB Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TBCB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 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 146
Anti-Asthmatic Agents Pharma 3691
Anticonvulsants Pharma 2863
Autonomic Agents Pharma 10732
Bromides Pharma 689
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

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)
  • Lung(3.6)
  • Pancreas(3.6)
  • Skin(3.3)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with TBCB: view

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 33 34
  • 99.73 (n)
dog
(Canis familiaris)
Mammalia TBCB 33 34
  • 90.16 (n)
cow
(Bos Taurus)
Mammalia TBCB 33 34
  • 86.75 (n)
mouse
(Mus musculus)
Mammalia Tbcb 33 16 34
  • 85.93 (n)
oppossum
(Monodelphis domestica)
Mammalia TBCB 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBCB 34
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBCB 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbcb 33
  • 63.76 (n)
Str.19899 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.33445 33
zebrafish
(Danio rerio)
Actinopterygii tbcb 33 34
  • 64.33 (n)
Dr.860 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000120 33
  • 56.24 (n)
fruit fly
(Drosophila melanogaster)
Insecta TBCB 33
  • 52.69 (n)
CG11242 34
  • 41 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_F53F4.3 33
  • 48.72 (n)
F53F4.3 34
  • 44 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR054W 33
  • 51.13 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E22859g 33
  • 43.63 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALF1 33 36
  • 41 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G10220 33
  • 48.78 (n)
rice
(Oryza sativa)
Liliopsida Os04g0692100 33
  • 52.05 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU01713 33
  • 48.25 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes alp11 33
  • 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 Variation AA Info Type
rs1000451021 -- 36,115,441(+) T/G 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1000549581 -- 36,116,748(+) C/A intron_variant
rs1000796666 -- 36,119,850(+) C/G intron_variant
rs1000881102 -- 36,120,861(+) G/A intron_variant
rs1001152552 -- 36,115,513(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant

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)

Additional Variant Information for TBCB Gene

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

SNP Genotyping and Copy Number Assay Products

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

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

Additional Disease Information for TBCB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 TK … Hirai Y (Cytogenetics and cell genetics 1996) 2 3 4 58
  2. Tubulin-binding cofactor B is a direct interaction partner of the dynactin subunit p150(Glued). (PMID: 22777741) Kuh GF … Liebau S (Cell and tissue research 2012) 3 4 58
  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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J … Comb MJ (Nature biotechnology 2005) 3 4 58
  5. p21-activated kinase 1 regulates microtubule dynamics by phosphorylating tubulin cofactor B. (PMID: 15831477) Vadlamudi RK … Kumar R (Molecular and cellular biology 2005) 3 4 58

Products for TBCB Gene

Sources for TBCB Gene

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