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Literature summary for 2.7.4.3 extracted from

  • Pannicke, U.; Hoenig, M.; Hess, I.; Friesen, C.; Holzmann, K.; Rump, E.M.; Barth, T.F.; Rojewski, M.T.; Schulz, A.; Boehm, T.; Friedrich, W.; Schwarz, K.
    Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2 (2009), Nat. Genet., 41, 101-105.
    View publication on PubMed
Search for more literature for 2.7.4.3

Protein Variants

Protein Variants Comment Organism
C40V the mutation is associated with reticular dysgenesis Homo sapiens
M1V the mutation is associated with reticular dysgenesis Homo sapiens
S231D the mutation is associated with reticular dysgenesis Homo sapiens
Y152T the mutation is associated with reticular dysgenesis Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
-
 Homo sapiens 5739
-
mitochondrion
-
 Danio rerio 5739
-

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
22000
-
 adenylate kinase 1, SDS-PAGE Homo sapiens
26000
-
 adenylate kinase 2, SDS-PAGE Homo sapiens

Organism

Organism UniProt Comment Textmining
Danio rerio Q1L8L9
-
-
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
bone marrow mononuclear cell
-
 Homo sapiens
-
lymph node
-
 Homo sapiens
-
peripheral blood cell
-
 Homo sapiens
-
spleen
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + AMP
-
 Homo sapiens ADP + ADP
-
 ?
ATP + AMP
-
 Danio rerio ADP + ADP
-
 ?

Synonyms

Synonyms Comment Organism
adenylate kinase 1 isoform Homo sapiens
adenylate kinase 2 isoform Homo sapiens
adenylate kinase 2 isoform Danio rerio
AK1 isoform Homo sapiens
AK2 isoform Homo sapiens
AK2 isoform Danio rerio

General Information

General Information Comment Organism
malfunction reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2 Homo sapiens