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Protein

Adenylate kinase isoenzyme 1

Gene

AK1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.UniRule annotation1 Publication

Catalytic activityi

ATP + AMP = 2 ADP.UniRule annotation1 Publication
ATP + nucleoside diphosphate = ADP + nucleoside triphosphate.UniRule annotation1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei39AMPUniRule annotation2 Publications1
Binding sitei44AMPUniRule annotation2 Publications1
Binding sitei101AMPUniRule annotation2 Publications1
Binding sitei132ATPUniRule annotation2 Publications1
Binding sitei138AMPUniRule annotation2 Publications1
Binding sitei149AMPUniRule annotation2 Publications1
Binding sitei177ATP; via carbonyl oxygenUniRule annotation2 Publications1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi18 – 23ATPUniRule annotation2 Publications6
Nucleotide bindingi65 – 67AMPUniRule annotation2 Publications3
Nucleotide bindingi94 – 97AMPUniRule annotation2 Publications4

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionKinase, Transferase
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi2.7.4.3 2681
ReactomeiR-HSA-499943 Interconversion of nucleotide di- and triphosphates
SABIO-RKiP00568

Names & Taxonomyi

Protein namesi
Recommended name:
Adenylate kinase isoenzyme 1UniRule annotation (EC:2.7.4.3UniRule annotation, EC:2.7.4.6UniRule annotation)
Short name:
AK 1UniRule annotation
Alternative name(s):
ATP-AMP transphosphorylase 1UniRule annotation
ATP:AMP phosphotransferaseUniRule annotation
Adenylate monophosphate kinaseUniRule annotation
MyokinaseUniRule annotation
Gene namesi
Name:AK1UniRule annotation
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000106992.17
HGNCiHGNC:361 AK1
MIMi103000 gene
neXtProtiNX_P00568

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Hemolytic anemia due to adenylate kinase deficiency (HAAKD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by hemolytic anemia and undetectable erythrocyte adenylate kinase activity.
See also OMIM:612631
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05533740G → R in HAAKD. 1 PublicationCorresponds to variant dbSNP:rs137853204EnsemblClinVar.1
Natural variantiVAR_05533864G → R in HAAKD. 1 PublicationCorresponds to variant dbSNP:rs137853205EnsemblClinVar.1
Natural variantiVAR_004021128R → W in HAAKD. 1 PublicationCorresponds to variant dbSNP:rs104894101EnsemblClinVar.1
Natural variantiVAR_055339140Missing in HAAKD. 1 Publication1
Natural variantiVAR_055340164Y → C in HAAKD. 1 PublicationCorresponds to variant dbSNP:rs137853203EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Hereditary hemolytic anemia

Organism-specific databases

DisGeNETi203
MalaCardsiAK1
MIMi612631 phenotype
OpenTargetsiENSG00000106992
Orphaneti86817 Hemolytic anemia due to adenylate kinase deficiency
PharmGKBiPA24655

Chemistry databases

ChEMBLiCHEMBL4925
DrugBankiDB01717 Bis(Adenosine)-5'-Pentaphosphate

Polymorphism and mutation databases

BioMutaiAK1
DMDMi20178288

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001589101 – 194Adenylate kinase isoenzyme 1Add BLAST194

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineUniRule annotation1 Publication1
Modified residuei38PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP00568
PaxDbiP00568
PeptideAtlasiP00568
PRIDEiP00568
ProteomicsDBi51267
TopDownProteomicsiP00568

2D gel databases

OGPiP00568
REPRODUCTION-2DPAGEiIPI00018342
UCD-2DPAGEiP00568

PTM databases

iPTMnetiP00568
PhosphoSitePlusiP00568
SwissPalmiP00568

Expressioni

Gene expression databases

BgeeiENSG00000106992 Expressed in 192 organ(s), highest expression level in apex of heart
CleanExiHS_AK1
ExpressionAtlasiP00568 baseline and differential
GenevisibleiP00568 HS

Organism-specific databases

HPAiCAB009893
HPA006456

Interactioni

Subunit structurei

Monomer.UniRule annotation2 Publications

Protein-protein interaction databases

BioGridi106706, 27 interactors
IntActiP00568, 20 interactors
STRINGi9606.ENSP00000362249

Structurei

Secondary structure

1194
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP00568
SMRiP00568
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP00568

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni38 – 67NMPbindUniRule annotation2 PublicationsAdd BLAST30
Regioni131 – 141LIDUniRule annotation2 PublicationsAdd BLAST11

Domaini

Consists of three domains, a large central CORE domain and two small peripheral domains, NMPbind and LID, which undergo movements during catalysis. The LID domain closes over the site of phosphoryl transfer upon ATP binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to prevent ATP hydrolysis.UniRule annotation2 Publications

Sequence similaritiesi

Belongs to the adenylate kinase family. AK1 subfamily.UniRule annotation

Phylogenomic databases

eggNOGiKOG3079 Eukaryota
COG0563 LUCA
GeneTreeiENSGT00390000016215
HOGENOMiHOG000238771
HOVERGENiHBG108060
InParanoidiP00568
KOiK00939
PhylomeDBiP00568
TreeFamiTF354283

Family and domain databases

CDDicd01428 ADK, 1 hit
HAMAPiMF_00235 Adenylate_kinase_Adk, 1 hit
MF_03171 Adenylate_kinase_AK1, 1 hit
InterProiView protein in InterPro
IPR000850 Adenylat/UMP-CMP_kin
IPR033690 Adenylat_kinase_CS
IPR028582 AK1
IPR006267 AK1/5
IPR027417 P-loop_NTPase
PANTHERiPTHR23359 PTHR23359, 1 hit
PRINTSiPR00094 ADENYLTKNASE
SUPFAMiSSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR01360 aden_kin_iso1, 1 hit
PROSITEiView protein in PROSITE
PS00113 ADENYLATE_KINASE, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

P00568-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEEKLKKTKI IFVVGGPGSG KGTQCEKIVQ KYGYTHLSTG DLLRSEVSSG
60 70 80 90 100
SARGKKLSEI MEKGQLVPLE TVLDMLRDAM VAKVNTSKGF LIDGYPREVQ
110 120 130 140 150
QGEEFERRIG QPTLLLYVDA GPETMTQRLL KRGETSGRVD DNEETIKKRL
160 170 180 190
ETYYKATEPV IAFYEKRGIV RKVNAEGSVD SVFSQVCTHL DALK
Length:194
Mass (Da):21,635
Last modified:April 16, 2002 - v3
Checksum:i95EC5AAA92D1F00F
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5T9B7Q5T9B7_HUMAN
Adenylate kinase isoenzyme 1
AK1
210Annotation score:
H0YID2H0YID2_HUMAN
Adenylate kinase isoenzyme 1
AK1
51Annotation score:
F8VRY5F8VRY5_HUMAN
Adenylate kinase isoenzyme 1
AK1
32Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti9K → N in AAH01116 (PubMed:15489334).Curated1
Sequence conflicti127Q → R AA sequence (PubMed:183954).Curated1
Sequence conflicti181S → E AA sequence (PubMed:183954).Curated1

Polymorphismi

This enzyme represents the most common of at least five alleles.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05533740G → R in HAAKD. 1 PublicationCorresponds to variant dbSNP:rs137853204EnsemblClinVar.1
Natural variantiVAR_05533864G → R in HAAKD. 1 PublicationCorresponds to variant dbSNP:rs137853205EnsemblClinVar.1
Natural variantiVAR_034046123E → Q. Corresponds to variant dbSNP:rs8192462EnsemblClinVar.1
Natural variantiVAR_004021128R → W in HAAKD. 1 PublicationCorresponds to variant dbSNP:rs104894101EnsemblClinVar.1
Natural variantiVAR_055339140Missing in HAAKD. 1 Publication1
Natural variantiVAR_055340164Y → C in HAAKD. 1 PublicationCorresponds to variant dbSNP:rs137853203EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J04809 Genomic DNA Translation: AAA51686.1
AB021871 mRNA Translation: BAA78534.1
BT019580 mRNA Translation: AAV38387.1
BC001116 mRNA Translation: AAH01116.1
CCDSiCCDS6881.1
PIRiA33508 KIHUA
RefSeqiNP_000467.1, NM_000476.2
NP_001305050.1, NM_001318121.1
XP_016869916.1, XM_017014427.1
XP_016869917.1, XM_017014428.1
UniGeneiHs.175473

Genome annotation databases

EnsembliENST00000373156; ENSP00000362249; ENSG00000106992
ENST00000373176; ENSP00000362271; ENSG00000106992
ENST00000644144; ENSP00000494600; ENSG00000106992
GeneIDi203
KEGGihsa:203

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Wikipedia

Adenylate kinase entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J04809 Genomic DNA Translation: AAA51686.1
AB021871 mRNA Translation: BAA78534.1
BT019580 mRNA Translation: AAV38387.1
BC001116 mRNA Translation: AAH01116.1
CCDSiCCDS6881.1
PIRiA33508 KIHUA
RefSeqiNP_000467.1, NM_000476.2
NP_001305050.1, NM_001318121.1
XP_016869916.1, XM_017014427.1
XP_016869917.1, XM_017014428.1
UniGeneiHs.175473

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Z83X-ray1.90A/B/C1-193[»]
2C95X-ray1.71A/B1-193[»]
ProteinModelPortaliP00568
SMRiP00568
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106706, 27 interactors
IntActiP00568, 20 interactors
STRINGi9606.ENSP00000362249

Chemistry databases

ChEMBLiCHEMBL4925
DrugBankiDB01717 Bis(Adenosine)-5'-Pentaphosphate

PTM databases

iPTMnetiP00568
PhosphoSitePlusiP00568
SwissPalmiP00568

Polymorphism and mutation databases

BioMutaiAK1
DMDMi20178288

2D gel databases

OGPiP00568
REPRODUCTION-2DPAGEiIPI00018342
UCD-2DPAGEiP00568

Proteomic databases

EPDiP00568
PaxDbiP00568
PeptideAtlasiP00568
PRIDEiP00568
ProteomicsDBi51267
TopDownProteomicsiP00568

Protocols and materials databases

DNASUi203
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373156; ENSP00000362249; ENSG00000106992
ENST00000373176; ENSP00000362271; ENSG00000106992
ENST00000644144; ENSP00000494600; ENSG00000106992
GeneIDi203
KEGGihsa:203

Organism-specific databases

CTDi203
DisGeNETi203
EuPathDBiHostDB:ENSG00000106992.17
GeneCardsiAK1
HGNCiHGNC:361 AK1
HPAiCAB009893
HPA006456
MalaCardsiAK1
MIMi103000 gene
612631 phenotype
neXtProtiNX_P00568
OpenTargetsiENSG00000106992
Orphaneti86817 Hemolytic anemia due to adenylate kinase deficiency
PharmGKBiPA24655
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3079 Eukaryota
COG0563 LUCA
GeneTreeiENSGT00390000016215
HOGENOMiHOG000238771
HOVERGENiHBG108060
InParanoidiP00568
KOiK00939
PhylomeDBiP00568
TreeFamiTF354283

Enzyme and pathway databases

BRENDAi2.7.4.3 2681
ReactomeiR-HSA-499943 Interconversion of nucleotide di- and triphosphates
SABIO-RKiP00568

Miscellaneous databases

EvolutionaryTraceiP00568
GenomeRNAii203
PROiPR:P00568
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000106992 Expressed in 192 organ(s), highest expression level in apex of heart
CleanExiHS_AK1
ExpressionAtlasiP00568 baseline and differential
GenevisibleiP00568 HS

Family and domain databases

CDDicd01428 ADK, 1 hit
HAMAPiMF_00235 Adenylate_kinase_Adk, 1 hit
MF_03171 Adenylate_kinase_AK1, 1 hit
InterProiView protein in InterPro
IPR000850 Adenylat/UMP-CMP_kin
IPR033690 Adenylat_kinase_CS
IPR028582 AK1
IPR006267 AK1/5
IPR027417 P-loop_NTPase
PANTHERiPTHR23359 PTHR23359, 1 hit
PRINTSiPR00094 ADENYLTKNASE
SUPFAMiSSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR01360 aden_kin_iso1, 1 hit
PROSITEiView protein in PROSITE
PS00113 ADENYLATE_KINASE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiKAD1_HUMAN
AccessioniPrimary (citable) accession number: P00568
Secondary accession number(s): Q9BVK9, Q9UQC7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: April 16, 2002
Last modified: October 10, 2018
This is version 197 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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