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Aliases for TUBA1C Gene

Aliases for TUBA1C Gene

  • Tubulin Alpha 1c 2 3 5
  • Tubulin Alpha-6 Chain 3 4
  • Tubulin, Alpha 6 2 3
  • Alpha-Tubulin 6 3 4
  • TUBA6 3 4
  • Tubulin Alpha-1C Chain 3
  • Bcm948 3

External Ids for TUBA1C Gene

Previous HGNC Symbols for TUBA1C Gene

  • TUBA6

Previous GeneCards Identifiers for TUBA1C Gene

  • GC12P047908
  • GC12P049658
  • GC12P046689
  • GC12P049582

Summaries for TUBA1C Gene

GeneCards Summary for TUBA1C Gene

TUBA1C (Tubulin Alpha 1c) is a Protein Coding gene. Diseases associated with TUBA1C include Distal Hereditary Motor Neuropathy, Type Ii. Among its related pathways are Development Slit-Robo signaling and Gap junction. Gene Ontology (GO) annotations related to this gene include GTP binding and structural molecule activity. An important paralog of this gene is TUBA1B.

UniProtKB/Swiss-Prot for TUBA1C Gene

  • Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.

Tocris Summary for TUBA1C Gene

  • Microtubules are cylindrical tubes of 20-25 nm in diameter. They are composed of protofilaments which are in turn composed of alpha- and beta-tubulin polymers. Each microtubule is polarized; at one end alpha-subunits are exposed (-) and at the other, beta-subunits are exposed (+).

Gene Wiki entry for TUBA1C Gene

Additional gene information for TUBA1C Gene

No data available for Entrez Gene Summary , CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBA1C Gene

Genomics for TUBA1C Gene

GeneHancer (GH) Regulatory Elements for TUBA1C Gene

Promoters and enhancers for TUBA1C 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
GH12J049186 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.7 -0.2 -232 4.3 PKNOX1 ATF1 ARNT SIN3A GLI4 YY1 ETS1 GLIS2 ZNF213 KLF7 TUBA1A TUBA1C TUBA1B LOC105369760 CCNT1 LOC390314 DDX23 KANSL2 KMT2D LMBR1L
GH12J049263 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 658.4 +77.8 77793 6.6 CLOCK DMAP1 YY1 ZNF213 ZNF143 ZNF263 SP3 NFYC ZFP41 MEF2D TUBA1C ENSG00000258101 DDX23 KMT2D CCNT1 LMBR1L SMARCD1 LOC390314 KANSL2 BCDIN3D
GH12J049128 Promoter 0.5 EPDnew 650.2 -60.1 -60125 0.1 LOC105369760 TUBA1C TUBA1B
GH12J049230 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 20.1 +44.4 44428 5.5 HDGF PKNOX1 SMAD1 ARNT SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 LMBR1L LOC105369760 KANSL2 TUBA1C KMT2D SMARCD1 TUBA1A CCNT1 PRKAG1 LOC390314
GH12J049243 Enhancer 1.1 Ensembl ENCODE dbSUPER 19 +56.5 56541 3.4 BCOR MEIS2 LEF1 TAL1 ZMYM3 CEBPG ZNF335 ZNF664 TCF12 CTBP1 TUBA1C TUBA1A PRPH KMT2D C1QL4 LOC105369760 ENSG00000258101 ENSG00000274017
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TUBA1C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TUBA1C gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1
  • YY1
  • HNF-1
  • HNF-1A
  • CBF(2)
  • CBF-A
  • CBF-B

Genomic Locations for TUBA1C Gene

Genomic Locations for TUBA1C Gene
chr12:49,188,736-49,274,603
(GRCh38/hg38)
Size:
85,868 bases
Orientation:
Plus strand
chr12:49,582,519-49,667,114
(GRCh37/hg19)
Size:
84,596 bases
Orientation:
Plus strand

Genomic View for TUBA1C Gene

Genes around TUBA1C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBA1C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBA1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBA1C Gene

Proteins for TUBA1C Gene

  • Protein details for TUBA1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQE3-TBA1C_HUMAN
    Recommended name:
    Tubulin alpha-1C chain
    Protein Accession:
    Q9BQE3

    Protein attributes for TUBA1C Gene

    Size:
    449 amino acids
    Molecular mass:
    49895 Da
    Quaternary structure:
    • Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells.

neXtProt entry for TUBA1C Gene

Post-translational modifications for TUBA1C Gene

  • Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).
  • Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).
  • Acetylation of alpha chains at Lys-40 is located inside the microtubule lumen. This modification has been correlated with increased microtubule stability, intracellular transport and ciliary assembly.
  • Methylation of alpha chains at Lys-40 is found in mitotic microtubules and is required for normal mitosis and cytokinesis contributing to genomic stability.
  • Nitration of Tyr-449 is irreversible and interferes with normal dynein intracellular distribution.
  • Undergoes a tyrosination/detyrosination cycle, the cyclic removal and re-addition of a C-terminal tyrosine residue by the enzymes tubulin tyrosine carboxypeptidase (TTCP) and tubulin tyrosine ligase (TTL), respectively.
  • Tubulin alpha-1C chain: Tyrosination promotes microtubule interaction with CAP-Gly domain-containing proteins such as CLIP1, CLIP2 and DCTN1 (By similarity). Tyrosination regulates the initiation of dynein-dynactin motility via interaction with DCTN1, which brings the dynein-dynactin complex into contact with microtubules (PubMed:26972003). In neurons, tyrosinated tubulins mediate the initiation of retrograde vesicle transport (By similarity).
  • Detyrosinated tubulin alpha-1C chain: Detyrosination is involved in metaphase plate congression by guiding chromosomes during mitosis: detyrosination promotes interaction with CENPE, promoting pole-proximal transport of chromosomes toward the equator (PubMed:25908662). Detyrosination increases microtubules-dependent mechanotransduction in dystrophic cardiac and skeletal muscle. In cardiomyocytes, detyrosinated microtubules are required to resist to contractile compression during contraction: detyrosination promotes association with desmin (DES) at force-generating sarcomeres, leading to buckled microtubules and mechanical resistance to contraction (By similarity).
  • Ubiquitination at isoforms=304 and isoforms=280
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TUBA1C Gene

Domains & Families for TUBA1C Gene

Gene Families for TUBA1C Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TUBA1C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BQE3

UniProtKB/Swiss-Prot:

TBA1C_HUMAN :
  • Belongs to the tubulin family.
Family:
  • Belongs to the tubulin family.
genes like me logo Genes that share domains with TUBA1C: view

Function for TUBA1C Gene

Molecular function for TUBA1C Gene

UniProtKB/Swiss-Prot Function:
Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.

Phenotypes From GWAS Catalog for TUBA1C Gene

Gene Ontology (GO) - Molecular Function for TUBA1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005198 structural molecule activity TAS 12090300
GO:0005200 structural constituent of cytoskeleton IEA --
GO:0005515 protein binding IPI 22720776
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with TUBA1C: view
genes like me logo Genes that share phenotypes with TUBA1C: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TUBA1C Gene

Localization for TUBA1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBA1C Gene

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 TUBA1C gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TUBA1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 22720776
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule TAS,IEA 12090300
GO:0015630 microtubule cytoskeleton IDA --
genes like me logo Genes that share ontologies with TUBA1C: view

Pathways & Interactions for TUBA1C Gene

genes like me logo Genes that share pathways with TUBA1C: view

SIGNOR curated interactions for TUBA1C Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TUBA1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IBA --
GO:0000278 mitotic cell cycle IBA --
GO:0007010 cytoskeleton organization IEA --
GO:0007017 microtubule-based process IEA,TAS 12090300
GO:0030705 cytoskeleton-dependent intracellular transport TAS 12090300
genes like me logo Genes that share ontologies with TUBA1C: view

Drugs & Compounds for TUBA1C Gene

(9) Drugs for TUBA1C Gene - From: DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Taxol Approved August 1997 Pharma Agonist Promotes assembly and inhibits disassembly of microtubules 0
2-MERCAPTO-N-[1,2,3,10-TETRAMETHOXY-9-OXO-5,6,7,9-TETRAHYDRO-BENZO[A]HEPTALEN-7-YL]ACETAMIDE Experimental Pharma Target 0
Epothilone D Experimental, Investigational Pharma Target 0
Patupilone Experimental, Investigational Pharma Target 0
Guanosine triphosphate Experimental Pharma 0

(1) Additional Compounds for TUBA1C Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Noscapine hydrochloride
912-60-7

(5) Tocris Compounds for TUBA1C Gene

Compound Action Cas Number
MPC 6827 hydrochloride Inhibitor of microtubule polymerization; antimitotic and antitumor 917369-31-4
Nocodazole Microtubule inhibitor 31430-18-9
Noscapine hydrochloride Tubulin inhibitor; induces apoptosis 912-60-7
Taxol Promotes assembly and inhibits disassembly of microtubules 33069-62-4
Vinblastine sulfate Disrupts microtubules 143-67-9
genes like me logo Genes that share compounds with TUBA1C: view

Transcripts for TUBA1C Gene

mRNA/cDNA for TUBA1C Gene

Unigene Clusters for TUBA1C Gene

Tubulin, alpha 1c:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TUBA1C Gene

No ASD Table

Relevant External Links for TUBA1C Gene

GeneLoc Exon Structure for
TUBA1C
ECgene alternative splicing isoforms for
TUBA1C

Expression for TUBA1C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TUBA1C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TUBA1C Gene

This gene is overexpressed in Esophagus - Mucosa (x6.4).

Protein differential expression in normal tissues from HIPED for TUBA1C Gene

This gene is overexpressed in Brain (23.3), Bone (11.3), Fetal Brain (7.7), and Bone marrow stromal cell (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TUBA1C Gene



NURSA nuclear receptor signaling pathways regulating expression of TUBA1C Gene:

TUBA1C

SOURCE GeneReport for Unigene cluster for TUBA1C Gene:

Hs.652390

Evidence on tissue expression from TISSUES for TUBA1C Gene

  • Intestine(4.9)
  • Skin(4.9)
  • Nervous system(4.9)
  • Liver(4.7)
  • Lung(4.7)
  • Bone marrow(4.4)
  • Kidney(4.3)
  • Stomach(4.2)
  • Pancreas(4)
  • Bone(3.1)
  • Eye(2.9)
  • Thyroid gland(2.7)
  • Muscle(2.2)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with TUBA1C: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TUBA1C Gene

Orthologs for TUBA1C Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBA1C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TUBA1C 34 33
  • 99.4 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 98 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 98 (a)
ManyToMany
TUBA1C 33
  • 94.88 (n)
dog
(Canis familiaris)
Mammalia TUBA1C 34 33
  • 95.1 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tuba1c 16 34 33
  • 93.76 (n)
rat
(Rattus norvegicus)
Mammalia Tuba1c 33
  • 93.76 (n)
chicken
(Gallus gallus)
Aves LOC100857247 33
  • 84.3 (n)
-- 34
  • 56 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia TUBA1C 34
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tuba1c 33
  • 86.56 (n)
MGC75684 33
zebrafish
(Danio rerio)
Actinopterygii tuba1b 34 33
  • 85.23 (n)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta alphaTub84B 33
  • 82.33 (n)
CG7794 34
  • 52 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010971 33
  • 79.99 (n)
worm
(Caenorhabditis elegans)
Secernentea Y19D2B.1 34
  • 80 (a)
OneToMany
tba-2 33
  • 75.76 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR441C 33
  • 66.89 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB1 33
  • 64.87 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C16874g 33
  • 64.71 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons TUA2 33
  • 75.28 (n)
rice
(Oryza sativa)
Liliopsida Os11g0247300 33
  • 76.91 (n)
Os.9504 33
wheat
(Triticum aestivum)
Liliopsida Ta.812 33
bread mold
(Neurospora crassa)
Ascomycetes NCU09468 33
  • 72.75 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes nda2 33
  • 67.19 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
ManyToMany
-- 34
  • 49 (a)
ManyToMany
Species where no ortholog for TUBA1C was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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)

Evolution for TUBA1C Gene

ENSEMBL:
Gene Tree for TUBA1C (if available)
TreeFam:
Gene Tree for TUBA1C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TUBA1C: view image

Paralogs for TUBA1C Gene

Paralogs for TUBA1C Gene

Pseudogenes.org Pseudogenes for TUBA1C Gene

genes like me logo Genes that share paralogs with TUBA1C: view

Variants for TUBA1C Gene

Sequence variations from dbSNP and Humsavar for TUBA1C Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000224719 -- 49,265,204(+) G/A/T intron_variant
rs1000225763 -- 49,252,635(+) G/A/C genic_upstream_transcript_variant, intron_variant
rs1000253064 -- 49,258,826(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000306720 -- 49,258,155(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000346448 -- 49,245,755(+) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TUBA1C Gene

Variant ID Type Subtype PubMed ID
nsv507642 OTHER sequence alteration 20534489
nsv509466 CNV insertion 20534489
nsv976611 CNV duplication 23825009
nsv976612 CNV duplication 23825009

Variation tolerance for TUBA1C Gene

Residual Variation Intolerance Score: 25.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.38; 27.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TUBA1C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBA1C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBA1C Gene

Disorders for TUBA1C Gene

MalaCards: The human disease database

(1) MalaCards diseases for TUBA1C Gene - From: GeneCards

Disorder Aliases PubMed IDs
distal hereditary motor neuropathy, type ii
  • dsma2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TUBA1C

genes like me logo Genes that share disorders with TUBA1C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TUBA1C Gene

Publications for TUBA1C Gene

  1. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Construction of a human full-length cDNA bank. (PMID: 7821789) Kato S … Aoki T (Gene 1994) 2 3 58
  4. Expanding the Interactome of TES by Exploiting TES Modules with Different Subcellular Localizations. (PMID: 28378594) Sala S … Ampe C (Journal of proteome research 2017) 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for TUBA1C Gene

Sources for TUBA1C Gene

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