TUBA3D (tubulin alpha 3d)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 113457
Gene name Tubulin alpha 3d
Gene symbol TUBA3D
Synonyms (NCBI Gene)
H2-ALPHAKTCN9TUBA2
Chromosome 2
Chromosome location 2q21.1
Summary This gene encodes a member of the alpha tubulin family. Tubulin is a major component of microtubules, which are composed of alpha- and beta-tubulin heterodimers and microtubule-associated proteins in the cytoskeleton. Microtubules maintain cellular struct
miRNA miRNA information provided by mirtarbase database.
1
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT022328 hsa-miR-124-3p Microarray 18668037
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (18)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000226 Process Microtubule cytoskeleton organization IBA
GO:0000278 Process Mitotic cell cycle IBA
GO:0005200 Function Structural constituent of cytoskeleton IBA
GO:0005200 Function Structural constituent of cytoskeleton IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
617878 24071 ENSG00000075886
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0DPH8
Protein name Tubulin alpha-3D chain (EC 3.6.5.-) (Alpha-tubulin 3D) [Cleaved into: Detyrosinated tubulin alpha-3D chain]
Protein function Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule en
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00091 Tubulin 3 → 214 Tubulin/FtsZ family, GTPase domain Domain
PF03953 Tubulin_C 263 → 393 Tubulin C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the cornea, sclera, and peripheral blood (PubMed:29051577). {ECO:0000269|PubMed:29051577}.
Sequence
Sequence length 450
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Phagosome
Apoptosis
Tight junction
Gap junction
Motor proteins
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Pathogenic Escherichia coli infection
Salmonella infection 		  Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
MHC class II antigen presentation
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
HSP90 chaperone cycle for steroid hormone receptors (SHR)
Recruitment of NuMA to mitotic centrosomes
Recycling pathway of L1
Hedgehog 'off' state
Cilium Assembly
Intraflagellar transport
RHO GTPases activate IQGAPs
RHO GTPases Activate Formins
COPI-mediated anterograde transport
COPI-dependent Golgi-to-ER retrograde traffic
COPI-independent Golgi-to-ER retrograde traffic
Mitotic Prometaphase
The role of GTSE1 in G2/M progression after G2 checkpoint
Carboxyterminal post-translational modifications of tubulin
HCMV Early Events
Aggrephagy
EML4 and NUDC in mitotic spindle formation
Sealing of the nuclear envelope (NE) by ESCRT-III
Kinesins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Keratoconus 9 Pathogenic rs1553500862, rs756938019 RCV000606401
RCV000613508
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs753379663 RCV004558031
Show/Hide Text Mining Associations (3)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cardiovascular Diseases Associate 30423812
Heart Septal Defects Ventricular Associate 30423812
Keratoconus Associate 29051577