RBCC

TBB1_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: TUBB1
Protein names and data: TBB1_HUMAN , Tubulin beta-1 chain Lenght: 451 a.a.
Mass: 50327 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 (By similarity).
Disease: ( OMIM: 612901 613112 ) Macrothrombocytopenia, autosomal dominant, TUBB1-related (MAD-TUBB1) [MIM:613112]: A congenital blood disorder characterized by increased platelet size and decreased number of circulating platelets. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm, cytoskeleton.
Tissue specificity: Hematopoietic cell-specific. Major isotype in leukocytes, where it represents 50% of all beta-tubulins.

Genetic variants

43 - 43 Q -> H (in dbSNP:rs415064). VAR_034542 415064
43 - 43 Q -> P (in dbSNP:rs463312). VAR_034543 463312
274 - 274 T -> M (in dbSNP:rs35565630). VAR_052671 35565630
307 - 307 R -> H (in dbSNP:rs6070697). VAR_052672 6070697
318 - 318 R -> W (in MAD-TUBB1; dbSNP:rs121918555). VAR_063411 121918555

Database cross-references

UniProt: Q9H4B7
Ensembl: ENST00000217133
MIM: 612901
MIM: 613112
neXtProt: NX_Q9H4B7
Antibodypedia: Q9H4B7 (may not find the protein thus also not any antibody)
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RBCC Red Blood Cell Collection

TBB1_HUMAN

Genetic variants

Database cross-references

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