RBCC Red Blood Cell Collection

UBA1_HUMAN

Source: PM19886704
PM23856902
PM22954596
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: UBA1 , A1S9T, UBE1
Protein names and data: UBA1_HUMAN , Ubiquitin-like modifier-activating enzyme 1 , Protein A1S9; Ubiquitin-activating enzyme E1 Lenght: 1058 a.a.
Mass: 117849 Da
fasta formatted sequence
Function: Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding an ubiquitin- E1 thioester and free AMP.
Pathway: Protein modification; protein ubiquitination.
Disease: ( OMIM: 301830 314370 ) Spinal muscular atrophy X-linked 2 (SMAX2) [MIM:301830]: A lethal infantile form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Clinical features include hypotonia, areflexia, and multiple congenital contractures. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genetic variants

447 - 447 R -> H (in dbSNP:rs2070169). VAR_043500 2070169
539 - 539 M -> I (in SMAX2). VAR_043501
547 - 547 S -> G (in SMAX2). VAR_043502

Database cross-references

UniProt: P22314
Ensembl: ENST00000335972
Ensembl: ENST00000377351
Ensembl: ENST00000604887
Ensembl: ENST00000605619
MIM: 301830
MIM: 314370
neXtProt: NX_P22314
Antibodypedia: P22314 (may not find the protein thus also not any antibody)
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