TUBA3D (tubulin alpha 3d)

Gene

• Entrez ID: 113457
• Gene name: Tubulin alpha 3d
• Gene symbol: TUBA3D
• Synonyms (NCBI Gene): H2-ALPHA, KTCN9, TUBA2
• 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT022328	hsa-miR-124-3p	Microarray	18668037

Gene ontology (GO)

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
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IDA
GO:0007017	Process	Microtubule-based process	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 617878
• HGNC: 24071
• e!Ensembl: ENSG00000075886

Protein

• UniProt ID: 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:

  MRECISIHVGQAGVQIGNACWELYCLEHGIQPDGQMPSDKTIGGGDDSFNTFFSETGAGK
  HVPRAVFVDLEPTVVDEVRTGTYRQLFHPEQLITGKEDAANNYARGHYTIGKEIVDLVLD
  RIRKLADLCTGLQGFLIFHSFGGGTGSGFASLLMERLSVDYGKKSKLEFAIYPAPQVSTA
  VVEPYNSILTTHTTLEHSDCAFMVDNEAIYDICRRNLDIERPTYTNLNRLIGQIVSSITA
  SLRFDGALNVDLTEFQTNLVPYPRIHFPLATYAPVISAEKAYHEQLSVAEITNACFEPAN
  QMVKCDPRHGKYMACCMLYRGDVVPKDVNAAIATIKTKRTIQFVDWCPTGFKVGINYQPP
  TVVPGGDLAKVQRAVCMLSNTTAIAEAWARLDHKFDLMYAKRAFVHWYVGEGMEEGEFSE
  AREDLAALEKDYEEVGVDSVEAEAEEGEEY

• Sequence length: 450

Pathways

KEGG:

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

Reactome:

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Keratoconus 9	Pathogenic	rs1553500862, rs756938019	RCV000606401 RCV000613508	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30423812		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	30423812	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	30423812	Associate	★☆☆☆☆ Found in Text Mining only
Hidrotic Ectodermal Dysplasia	Hidrotic Ectodermal Dysplasia	BEFREE	9465305		★☆☆☆☆ Found in Text Mining only
Kabuki make-up syndrome	Kabuki Syndrome	BEFREE	9465305		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	29051577		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoconus	Keratoconus	Pubtator	29051577	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS 9	Keratoconus	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neural Tube Defects	Neural Tube Defect	BEFREE	16126374		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	9627113		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	30423812		★☆☆☆☆ Found in Text Mining only