AK1
entrez
203
canonical
uniprot
P00568
canonical
ensembl
ENSG00000106992
resolver
ensp
ENSP00000223836
resolver
ensp
ENSP00000362249
resolver
ensp
ENSP00000494600
resolver
ensp
ENSP00000574298
resolver
ensp
ENSP00000574301
resolver
ensp
ENSP00000574302
resolver
ensp
ENSP00000574303
resolver
ensp
ENSP00000624111
resolver
ensp
ENSP00000624112
resolver
ensp
ENSP00000624118
resolver
ensp
ENSP00000624119
resolver
ensp
ENSP00000624120
resolver
enst
ENST00000223836
resolver
enst
ENST00000373156
resolver
enst
ENST00000644144
resolver
enst
ENST00000904239
resolver
enst
ENST00000904242
resolver
enst
ENST00000904243
resolver
enst
ENST00000904244
resolver
enst
ENST00000954052
resolver
enst
ENST00000954053
resolver
enst
ENST00000954059
resolver
enst
ENST00000954060
resolver
enst
ENST00000954061
resolver
genesymbol
AK1
resolver
genesymbol_syn
HTL-S-58j
resolver
hgnc
HGNC:361
resolver
uniprot
Q5T9B7
resolver
uniprot
Q6FGX9
resolver
uniprot
Q9BVK9
resolver
uniprot
Q9UQC7
resolver
uniprot_entry
KAD1_HUMAN
resolver
uniprot_entry
Q5T9B7_HUMAN
resolver
uniprot_entry
Q6FGX9_HUMAN
resolver
uniprot_sec
Q9BVK9
resolver
uniprot_sec
Q9UQC7
resolver
amino_acid_sequence
MEEKLKKTKIIFVVGGPGSGKGTQCEKIVQKYGYTHLSTGDLLRSEVSSGSARGKKLSEIMEKGQLVPLETVLDMLRDAMVAKVNTSKGFLIDGYPREVQQGEEFERRIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEETIKKRLETYYKATEPVIAFYEKRGIVRKVNAEGSVDSVFSQVCTHLDALK
uniprot
proteins
disease_involvement
DISEASE: Anemia, congenital, non-spherocytic hemolytic, 3 (CNSHA3) [MIM:612631]: An autosomal recessive disease characterized by hemolytic anemia and undetectable erythrocyte adenylate kinase activity. {ECO:0000269|PubMed:12649162, ECO:0000269|PubMed:2542324, ECO:0000269|PubMed:9432020}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.4.3
uniprot
proteins
ec_number
2.7.4.4
uniprot
proteins
ec_number
2.7.4.6
uniprot
proteins
function
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 (By similarity) (PubMed:21080915, PubMed:23416111, PubMed:2542324). Also catalyzes at a very low rate the synthesis of thiamine triphosphate (ThTP) from thiamine diphosphate (ThDP) and ADP (By similarity). {ECO:0000250|UniProtKB:P05081, ECO:0000255|HAMAP-Rule:MF_03171, ECO:0000269|PubMed:21080915, ECO:0000269|PubMed:23416111, ECO:0000269|PubMed:2542324}.
uniprot
proteins
mass_dalton
21635
uniprot
proteins
protein_family
AK1 subfamily
uniprot
proteins
protein_family
Adenylate kinase family
uniprot
proteins
pubmed
12649162
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
183954
uniprot
proteins
pubmed
21080915
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23416111
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2542324
uniprot
proteins
pubmed
9432020
uniprot
proteins
sequence_length
194
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P05081}.
uniprot
proteins