RBCC

TBA1A_HUMAN

Source: hRBCD ; ID: IPI00180675
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: TUBA1A , TUBA3
Protein names and data: TBA1A_HUMAN , Tubulin alpha-1A chain , Alpha-tubulin 3; Tubulin B-alpha-1; Tubulin alpha-3 chain Lenght: 451 a.a.
Mass: 50136 Da
fasta formatted sequence
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.
Disease: ( OMIM: 602529 611603 ) Lissencephaly 3 (LIS3) [MIM:611603]: A classic type lissencephaly associated with psychomotor retardation and seizures. Features include agyria or pachygyria or laminar heterotopia, severe mental retardation, motor delay, variable presence of seizures, and abnormalities of corpus callosum, hippocampus, cerebellar vermis and brainstem. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm, cytoskeleton.
Tissue specificity: Expressed at a high level in fetal brain.

Genetic variants

188 - 188 I -> L (in LIS3). VAR_039332
263 - 263 P -> T (in LIS3). VAR_039333
264 - 264 R -> C (in LIS3). VAR_039334
286 - 286 L -> F (in LIS3). VAR_039335
402 - 402 R -> C (in LIS3). VAR_039336
402 - 402 R -> H (in LIS3). VAR_039337
419 - 419 S -> L (in LIS3). VAR_039338
447 - 447 E -> K (in dbSNP:rs1065730). VAR_034540 1065730

Database cross-references

UniProt: Q71U36
Ensembl: ENST00000295766
Ensembl: ENST00000301071
Ensembl: ENST00000550767
MIM: 602529
MIM: 611603
neXtProt: NX_Q71U36
Antibodypedia: Q71U36 (may not find the protein thus also not any antibody)
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RBCC Red Blood Cell Collection

TBA1A_HUMAN

Genetic variants

Database cross-references

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