Human Gene TUBA4A (ENST00000248437.9) from GENCODE V38
  Description: Homo sapiens tubulin alpha 4a (TUBA4A), transcript variant 1, mRNA. (from RefSeq NM_006000)
RefSeq Summary (NM_006000): Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013].
Gencode Transcript: ENST00000248437.9
Gencode Gene: ENSG00000127824.15
Transcript (Including UTRs)
   Position: hg38 chr2:219,249,710-219,253,918 Size: 4,209 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg38 chr2:219,250,352-219,253,858 Size: 3,507 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2021-09-27 09:51:20

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:219,249,710-219,253,918)mRNA (may differ from genome)Protein (448 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: TBA4A_HUMAN
DESCRIPTION: RecName: Full=Tubulin alpha-4A chain; AltName: Full=Alpha-tubulin 1; AltName: Full=Testis-specific alpha-tubulin; AltName: Full=Tubulin H2-alpha; AltName: Full=Tubulin alpha-1 chain;
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.
SUBUNIT: Dimer of alpha and beta chains.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
PTM: 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).
PTM: Acetylation of alpha-tubulins 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).
MISCELLANEOUS: This tubulin does not have a C-terminal tyrosine.
SIMILARITY: Belongs to the tubulin family.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tuba1/";
WEB RESOURCE: Name=Wikipedia; Note=Tubulin entry; URL="http://en.wikipedia.org/wiki/Tubulin";

-  MalaCards Disease Associations
  MalaCards Gene Search: TUBA4A
Diseases sorted by gene-association score: amyotrophic lateral sclerosis 22 with or without frontotemporal dementia* (1231), robinow syndrome, autosomal dominant 3 (13), robinow syndrome, autosomal dominant 1 (9), retinitis pigmentosa 49 (7), papillary craniopharyngioma (7), robinow syndrome, autosomal dominant 2 (6), mixed glioma (6), adamantinous craniopharyngioma (6), lateral sclerosis (6), amyotrophic lateral sclerosis 1 (0)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D001564 Benzo(a)pyrene
  • D013749 Tetrachlorodibenzodioxin
  • C058305 phenethyl isothiocyanate
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C029790 2,2',3',4,4',5-hexachlorobiphenyl
  • C029141 2,2,5,7,8-pentamethyl-1-hydroxychroman
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • D015127 9,10-Dimethyl-1,2-benzanthracene
  • C547126 AZM551248
  • D000082 Acetaminophen
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 45.70 RPKM in Whole Blood
Total median expression: 517.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -12.5060-0.208 Picture PostScript Text
3' UTR -224.20642-0.349 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002452 - Alpha_tubulin
IPR008280 - Tub_FtsZ_C
IPR000217 - Tubulin
IPR018316 - Tubulin/FtsZ_2-layer-sand-dom
IPR023123 - Tubulin_C
IPR017975 - Tubulin_CS
IPR003008 - Tubulin_FtsZ_GTPase

Pfam Domains:
PF00091 - Tubulin/FtsZ family, GTPase domain
PF03953 - Tubulin C-terminal domain

ModBase Predicted Comparative 3D Structure on P68366
FrontTopSide
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
MGIRGD   SGD
Protein SequenceProtein Sequence   Protein Sequence
AlignmentAlignment   Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003924 GTPase activity
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0019899 enzyme binding
GO:0019901 protein kinase binding

Biological Process:
GO:0000086 G2/M transition of mitotic cell cycle
GO:0002576 platelet degranulation
GO:0007010 cytoskeleton organization
GO:0007017 microtubule-based process
GO:0010389 regulation of G2/M transition of mitotic cell cycle
GO:0097711 ciliary basal body docking

Cellular Component:
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0015630 microtubule cytoskeleton
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK054731 - Homo sapiens cDNA FLJ30169 fis, clone BRACE2000864, highly similar to TUBULIN ALPHA-4 CHAIN.
BC018854 - Homo sapiens tubulin, alpha 4a, mRNA (cDNA clone IMAGE:3141702).
BC009238 - Homo sapiens tubulin, alpha 4a, mRNA (cDNA clone MGC:2379 IMAGE:2820121), complete cds.
AK299958 - Homo sapiens cDNA FLJ58687 complete cds, highly similar to Tubulin alpha-4 chain.
JD062972 - Sequence 43996 from Patent EP1572962.
JD207099 - Sequence 188123 from Patent EP1572962.
JD056777 - Sequence 37801 from Patent EP1572962.
JD339229 - Sequence 320253 from Patent EP1572962.
BT006731 - Homo sapiens tubulin, alpha 1 (testis specific) mRNA, complete cds.
DQ893824 - Synthetic construct Homo sapiens clone IMAGE:100008284; FLH164735.01L; RZPDo839B05157D tubulin, alpha 1 (testis specific) (TUBA1) gene, encodes complete protein.
AB590384 - Synthetic construct DNA, clone: pFN21AE1423, Homo sapiens TUBA1 gene for tubulin, alpha 4a, without stop codon, in Flexi system.
KJ897714 - Synthetic construct Homo sapiens clone ccsbBroadEn_07108 TUBA4A gene, encodes complete protein.
JD350277 - Sequence 331301 from Patent EP1572962.
JD182978 - Sequence 164002 from Patent EP1572962.
CU679265 - Synthetic construct Homo sapiens gateway clone IMAGE:100017293 5' read TUBA4A mRNA.
JD173944 - Sequence 154968 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04540 - Gap junction
hsa05130 - Pathogenic Escherichia coli infection

BioCarta from NCI Cancer Genome Anatomy Project
h_mta3Pathway - Downregulated of MTA-3 in ER-negative Breast Tumors

Reactome (by CSHL, EBI, and GO)

Protein P68366 (Reactome details) participates in the following event(s):

R-HSA-380272 Plk1-mediated phosphorylation of Nlp
R-HSA-380283 Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome
R-HSA-380294 Loss of C-Nap-1 from centrosomes
R-HSA-380311 Recruitment of Plk1 to centrosomes
R-HSA-380455 Recruitment of CDK11p58 to the centrosomes
R-HSA-380303 Dissociation of Phospho-Nlp from the centrosome
R-HSA-5626220 C2CD3 binds the mother centriole
R-HSA-482772 Release of platelet cytosolic components
R-HSA-389980 unfolded actin/tubulin associates with prefoldin
R-HSA-380508 Translocation of NuMA to the centrosomes
R-HSA-2574845 AJUBA binds centrosome-associated AURKA
R-HSA-8853405 TPX2 binds AURKA at centrosomes
R-HSA-3000319 BORA binds PLK1 and AURKA
R-HSA-2574840 AJUBA facilitates AURKA autophosphorylation
R-HSA-3000310 AURKA phosphorylates PLK1
R-HSA-5626223 C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole
R-HSA-5626681 Recruitment of transition zone proteins
R-HSA-5626227 CP110 and CEP97 dissociate from the centriole
R-HSA-389970 Actin/tubulin:prefoldin complex associates with CCT/TriC
R-HSA-389954 Hydrolysis of ATP and release of tubulin folding intermediate from CCT/TriC
R-HSA-389961 ADP is exchanged for ATP in the (ADP:CCT/TriC):tubulin complex
R-HSA-389972 alpha-tubulin:GTP + Cofactor B -> alpha-tubulin:GTP: Cofactor B
R-HSA-389978 alpha-tubulin:GTP + Cofactor E -> alpha-tubulin:GTP:Cofactor E
R-HSA-380316 Association of NuMA with microtubules
R-HSA-8853419 TPX2 promotes AURKA autophosphorylation
R-HSA-5626228 The distal appendage proteins recruit TTBK2
R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body
R-HSA-389974 Beta-tubulin:GTP:Cofactor D:alpha-tubulin:GTP:Cofactor E:Cofactor C-> Beta-tubulin:GDP :alpha-tubulin:GTP heterodimer +Cofactor E+ Cofactor D+ Cofactor C+ Pi
R-HSA-389963 alpha-tubulin:GTP:Cofactor B +Cofactor E -> alpha-tubulin:GTP: Cofactor E +Cofactor B
R-HSA-389976 Beta-tubulin:GTP:Cofactor D+alpha-tubulin:GTP:Cofactor E-> Beta-tubulin:GTP:Cofactor D:alpha-tubulin:GTP:Cofactor E
R-HSA-5626699 MARK4 binds ODF2 in the centriole
R-HSA-389964 Beta-tubulin:GTP:Cofactor D:alpha-tubulin:GTP:Cofactor E+ Cofactor C-> Beta-tubulin:GTP:Cofactor D:alpha-tubulin:GTP:Cofactor E:Cofactor C
R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-114608 Platelet degranulation
R-HSA-389957 Prefoldin mediated transfer of substrate to CCT/TriC
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-8854518 AURKA Activation by TPX2
R-HSA-380287 Centrosome maturation
R-HSA-5617833 Cilium Assembly
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-389958 Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding
R-HSA-389960 Formation of tubulin folding intermediates by CCT/TriC
R-HSA-389977 Post-chaperonin tubulin folding pathway
R-HSA-68877 Mitotic Prometaphase
R-HSA-69275 G2/M Transition
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-390466 Chaperonin-mediated protein folding
R-HSA-391251 Protein folding
R-HSA-68886 M Phase
R-HSA-453274 Mitotic G2-G2/M phases
R-HSA-109582 Hemostasis
R-HSA-392499 Metabolism of proteins
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: B3KNQ6, ENST00000248437.1, ENST00000248437.2, ENST00000248437.3, ENST00000248437.4, ENST00000248437.5, ENST00000248437.6, ENST00000248437.7, ENST00000248437.8, NM_006000, P05215, P68366, TBA4A_HUMAN, TUBA1, uc002vkt.1, uc002vkt.2, uc002vkt.3, uc002vkt.4
UCSC ID: ENST00000248437.9
RefSeq Accession: NM_006000
Protein: P68366 (aka TBA4A_HUMAN)
CCDS: CCDS2438.1, CCDS63131.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TUBA4A:
als-overview (Amyotrophic Lateral Sclerosis Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.