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TUBA1C Gene(Protein Coding)

Tubulin Alpha 1c

GCID:
GC12P049188
GIFtS:
63
Genes Participants
UDN Logo

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 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 and Congenital Nervous System Abnormality. Among its related pathways are Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding and Regulation of CFTR activity (norm and CF). GO annotations related to this gene include GTP binding and structural molecule activity. An important paralog of this gene is TUBA4B.

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

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

Genomics for TUBA1C Gene

Products:

  1. Regulatory Element

Regulatory Elements for TUBA1C Gene

Enhancers for TUBA1C Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TUBA1C on UCSC Golden Path with GeneCards custom track

Promoters for TUBA1C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TUBA1C on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the TUBA1C gene promoter:

Genomic Location for TUBA1C Gene

Chromosome:
12
Start:
49,188,736 bp from pter
End:
49,274,603 bp from pter
Size:
85,868 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 Structure • Gene Density

RefSeq DNA sequence for TUBA1C Gene

Proteins for TUBA1C Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Proteomics data for TUBA1C Gene at MOPED

Protein Expression for TUBA1C Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TUBA1C Gene

  • Acetylation of alpha chains at Lys-40 stabilizes microtubules and affects affinity and processivity of microtubule motors. This modification has a role in multiple cellular functions, ranging from cell motility, cell cycle progression or cell differentiation to intracellular trafficking and signaling (By similarity).
  • Some glutamate residues at the C-terminus are polyglutamylated. This modification occurs exclusively on glutamate residues and results in polyglutamate chains on the gamma-carboxyl group. Also 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) whereas glutamylation is prevalent in neuronal cells, centrioles, axonemes, and the mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of such modifications is still unclear but they regulate the assembly and dynamics of axonemal microtubules (Probable).
  • 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.
  • Ubiquitination at Lys 280 and Lys 304
  • Modification sites at PhosphoSitePlus

Other Protein References for TUBA1C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TUBA1C Gene

Domains & Families for TUBA1C Gene

Gene Families for TUBA1C Gene

HGNC:

Protein Domains for TUBA1C Gene

InterPro:
Blocks:
ProtoNet:

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

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  2. CRISPR
  3. miRNA
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  7. Flow Cytometry

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.

Gene Ontology (GO) - Molecular Function for TUBA1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22720776
genes like me logo Genes that share ontologies with TUBA1C: view

Phenotypes for TUBA1C Gene

GenomeRNAi human phenotypes for TUBA1C:
genes like me logo Genes that share phenotypes with TUBA1C: view

Animal Model Products

miRNA for TUBA1C Gene

miRTarBase miRNAs that target TUBA1C

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for TUBA1C Gene COMPARTMENTS Subcellular localization image for TUBA1C gene
Compartment Confidence
cytoskeleton 5
extracellular 5
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for TUBA1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005874 microtubule IEA,TAS 12090300
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:0007017 microtubule-based process IEA,TAS 12090300
GO:0030705 cytoskeleton-dependent intracellular transport TAS 12090300
GO:0044267 cellular protein metabolic process TAS --
GO:0051084 de novo posttranslational protein folding TAS --
genes like me logo Genes that share ontologies with TUBA1C: view

Drugs & Compounds for TUBA1C Gene

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  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Colchicine Approved Pharma Antagonist Tubulin Inhibitor, Inhibitor of tubulin 105
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 B Experimental, Investigational Pharma Target 67
Epothilone D Experimental, Investigational Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Vinblastine sulfate
143-67-9
Vincristine sulfate
2068-78-2

(5) Tocris Compounds for TUBA1C Gene

Compound Action Cas Number
Colchicine Inhibitor of tubulin 64-86-8
Nocodazole Microtubule inhibitor 31430-18-9
Taxol Promotes assembly and inhibits disassembly of microtubules 33069-62-4
Vinblastine sulfate Disrupts microtubules 143-67-9
Vincristine sulfate Disrupts microtubules 2068-78-2
genes like me logo Genes that share compounds with TUBA1C: view

Transcripts for TUBA1C Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for TUBA1C Gene

(5) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(19) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TUBA1C Gene

Tubulin, alpha 1c:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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

Products:

  1. Primer

mRNA expression in normal human tissues for TUBA1C Gene

mRNA expression in normal human tissues for TUBA1C Gene
mRNA expression by BioGPS for TUBA1C GenemRNA expression by GTEx 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, PaxDb, MOPED, and MaxQB for TUBA1C Gene



SOURCE GeneReport for Unigene cluster for TUBA1C Gene Hs.652390

genes like me logo Genes that share expression patterns with TUBA1C: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
 Mammalia TUBA1C 35
  • 94.88 (n)
  • 98.44 (a)
-- 36
  • 98 (a)
 ManyToMany
dog
(Canis familiaris)
 Mammalia TUBA1C 35
  • 95.1 (n)
  • 99.33 (a)
TUBA1C 36
  • 87 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Tuba1c 35
  • 93.76 (n)
  • 99.33 (a)
Tuba1c 16
Tuba1c 36
  • 99 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia TUBA1C 35
  • 99.4 (n)
  • 100 (a)
TUBA1C 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia LOC100909441 35
  • 93.76 (n)
  • 99.11 (a)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 36
  • 98 (a)
 ManyToMany
chicken
(Gallus gallus)
 Aves LOC100857247 35
  • 84.3 (n)
  • 95.98 (a)
-- 36
  • 56 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia TUBA1C 36
  • 99 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia MGC75684 35
tuba1c 35
  • 86.56 (n)
  • 98.89 (a)
zebrafish
(Danio rerio)
 Actinopterygii tuba1b 35
  • 85.23 (n)
  • 98 (a)
tuba1b 36
  • 98 (a)
 ManyToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP010971 35
  • 79.99 (n)
  • 96.65 (a)
fruit fly
(Drosophila melanogaster)
 Insecta alphaTub84B 35
  • 82.33 (n)
  • 96.88 (a)
CG7794 36
  • 52 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea tba-2 35
  • 75.76 (n)
  • 88.37 (a)
Y19D2B.1 36
  • 80 (a)
 OneToMany
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AFR441C 35
  • 66.89 (n)
  • 74.61 (a)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0C16874g 35
  • 64.71 (n)
  • 74.77 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes TUB1 35
  • 64.87 (n)
  • 74.83 (a)
thale cress
(Arabidopsis thaliana)
 eudicotyledons TUA2 35
  • 75.28 (n)
  • 85.75 (a)
rice
(Oryza sativa)
 Liliopsida Os.9504 35
Os11g0247300 35
  • 76.91 (n)
  • 84.41 (a)
wheat
(Triticum aestivum)
 Liliopsida Ta.812 35
bread mold
(Neurospora crassa)
 Ascomycetes NCU09468 35
  • 72.75 (n)
  • 78.4 (a)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes nda2 35
  • 67.19 (n)
  • 77.23 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 49 (a)
 ManyToMany
-- 36
  • 53 (a)
 ManyToMany
Species with no ortholog for TUBA1C:
  • 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)

Paralogs for TUBA1C Gene

Paralogs for TUBA1C Gene

(188) SIMAP similar genes for TUBA1C Gene using alignment to 6 proteins:

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 Sequence Context AA Info Type
rs12821954 -- 49,246,087(+) tttta(A/G)tagag intron-variant
rs12822101 -- 49,246,116(+) agcca(C/G)gctgg intron-variant
rs12822772 -- 49,246,488(+) tcctg(C/G)ctaac intron-variant
rs12823228 -- 49,246,122(+) gctgg(C/T)ctcaa intron-variant
rs12824458 -- 49,234,036(+) ACGGT(C/G)ACGCG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv507642 CNV Insertion 20534489
nsv509466 CNV Insertion 20534489

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for TUBA1C Gene

Disorders for TUBA1C Gene

MalaCards: The human disease database

(3) MalaCards diseases for TUBA1C Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
distal hereditary motor neuropathy, type ii
  • spinal muscular atrophy, jerash type
congenital nervous system abnormality
  • congenital neurologic anomaly
physical disorder
  • physical illness
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TUBA1C

Genetic Association Database (GAD)
TUBA1C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 J.V. … Mann M. (Cell 2006) 3 4 67
  2. Construction of a human full-length cDNA bank. (PMID: 7821789) Kato S. … Aoki T. (Gene 1994) 2 3
  3. Proteomic analysis and identification of cellular interactors of the giant ubiquitin ligase HERC2. (PMID: 25476789) Galligan J.T. … Howley P.M. (J. Proteome Res. 2015) 3
  4. New host factors important for respiratory syncytial virus (RSV) replication revealed by a novel microfluidics screen for interactors of matrix (M) protein. (PMID: 25556234) Kipper S. … Bajorek M. (Mol. Cell Proteomics 2015) 3
  5. FBXW7 modulates cellular stress response and metastatic potential through a88HSF1 post-translational modification. (PMID: 25720964) Kourtis N. … Aifantis I. (Nat. Cell Biol. 2015) 3

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