tubulin alpha 1a

Summary
Gene Symbol
  • TUBA1A
Aliases
  • B-ALPHA-1
  • FLJ25113
  • TUBA3
  • tubulin, alpha, brain-specific
Organism
Homo sapiens (human)
NCBI Gene
7846
HGNC
20766
PubChem
7846
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Cytoskeleton
  • Direct protein sequencing
  • Disease variant
  • GTP-binding
  • Hydrolase
  • Isopeptide bond
  • Lissencephaly
  • Magnesium
  • Metal-binding
  • Methylation
  • Microtubule
  • Nitration
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
Q71U36
  • Alpha-tubulin 3
  • Tubulin B-alpha-1
  • Tubulin alpha-3 chain
Gene Ontology (GO)
GO Hierarchy
Displaying entries 1 - 5 of 16 in total
GO Term Evidence Code PMID
condensed chromosome
nucleus
cytoplasm
cytosol
microtubule
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000167552

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Disease
Disease Ontology
Displaying all 4 entries
DO ID Disease Name Source
DOID:0050453 lissencephaly
DOID:0112232 lissencephaly 3
DOID:10907 microcephaly
DOID:11832 visual epilepsy
The Human Phenotype Ontology
Displaying entries 1 - 10 of 93 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000028 Cryptorchidism
HP:0000044 Hypogonadotropic hypogonadism
HP:0000175 Cleft palate
HP:0000252 Microcephaly
HP:0000256 Macrocephaly
HP:0000308 Microretrognathia
HP:0000316 Hypertelorism
HP:0000347 Micrognathia
HP:0000358 Posteriorly rotated ears
Displaying all 5 entries
Disease ID Disease Name
OMIM:611603
  • lissencephaly due to TUBA1A mutation
ORPHA:171680
  • lissencephaly due to TUBA1A mutation
ORPHA:994
  • fetal akinesia deformation sequence 1
ORPHA:45358
  • congenital fibrosis of extraocular muscles
ORPHA:467166
  • tubulinopathy-associated dysgyria

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025