RBCC Red Blood Cell Collection

KAD1_HUMAN

Source: hRBCD ; ID: IPI00018342
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: AK1
Protein names and data: KAD1_HUMAN , Adenylate kinase isoenzyme 1; AK 1; 2.7.4.3; 2.7.4.6 , ATP-AMP transphosphorylase 1; ATP:AMP phosphotransferase; Adenylate monophosphate kinase; Myokinase Lenght: 194 a.a.
Mass: 21635 Da
fasta formatted sequence
Function: Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Also displays broad nucleoside diphosphate kinase activity. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism.
Catalytic activity: ATP + AMP = 2 ADP. ATP + nucleoside diphosphate = ADP + nucleoside triphosphate.
Disease: ( OMIM: 103000 612631 ) Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]: A disease characterized by hemolytic anemia and undetectable erythrocyte adenylate kinase activity. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm.

Genetic variants

This enzyme represents the most common of at least five alleles.

40 - 40 G -> R (in HAAKD). VAR_055337
64 - 64 G -> R (in HAAKD). VAR_055338
123 - 123 E -> Q (in dbSNP:rs8192462). VAR_034046 8192462
128 - 128 R -> W (in HAAKD; dbSNP:rs28930974). VAR_004021 28930974
140 - 140 Missing (in HAAKD). VAR_055339
164 - 164 Y -> C (in HAAKD). VAR_055340

Database cross-references

UniProt: P00568
Ensembl: ENST00000373156
Ensembl: ENST00000373176
MIM: 103000
MIM: 612631
neXtProt: NX_P00568
Antibodypedia: P00568 (may not find the protein thus also not any antibody)
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