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Protein

Adenylate kinase isoenzyme 1

Gene

AK1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei39 – 391AMPUniRule annotation2 Publications
Binding sitei44 – 441AMPUniRule annotation2 Publications
Binding sitei101 – 1011AMPUniRule annotation2 Publications
Binding sitei132 – 1321ATPUniRule annotation2 Publications
Binding sitei138 – 1381AMPUniRule annotation2 Publications
Binding sitei149 – 1491AMPUniRule annotation2 Publications
Binding sitei177 – 1771ATP; via carbonyl oxygenUniRule annotation2 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi18 – 236ATPUniRule annotation2 Publications
Nucleotide bindingi65 – 673AMPUniRule annotation2 Publications
Nucleotide bindingi94 – 974AMPUniRule annotation2 Publications

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Kinase, Transferase

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi2.7.4.3. 2681.
ReactomeiR-HSA-499943. Synthesis and interconversion of nucleotide di- and triphosphates.
SABIO-RKP00568.

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

HGNCiHGNC:361. AK1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
  • outer dense fiber Source: Ensembl
  • plasma membrane Source: Ensembl
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti40 – 401G → R in HAAKD. 1 Publication
Corresponds to variant rs137853204 [ dbSNP | Ensembl ].
VAR_055337
Natural varianti64 – 641G → R in HAAKD. 1 Publication
Corresponds to variant rs137853205 [ dbSNP | Ensembl ].
VAR_055338
Natural varianti128 – 1281R → W in HAAKD. 1 Publication
Corresponds to variant rs28930974 [ dbSNP | Ensembl ].
VAR_004021
Natural varianti140 – 1401Missing in HAAKD. 1 Publication
VAR_055339
Natural varianti164 – 1641Y → C in HAAKD. 1 Publication
Corresponds to variant rs137853203 [ dbSNP | Ensembl ].
VAR_055340

Keywords - Diseasei

Disease mutation, Hereditary hemolytic anemia

Organism-specific databases

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

Chemistry

ChEMBLiCHEMBL4925.

Polymorphism and mutation databases

BioMutaiAK1.
DMDMi20178288.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 194194Adenylate kinase isoenzyme 1PRO_0000158910Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionineUniRule annotation1 Publication
Modified residuei38 – 381PhosphoserineCombined sources

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP00568.
PaxDbiP00568.
PeptideAtlasiP00568.
PRIDEiP00568.
TopDownProteomicsiP00568.

2D gel databases

OGPiP00568.
REPRODUCTION-2DPAGEIPI00018342.
UCD-2DPAGEP00568.

PTM databases

iPTMnetiP00568.
PhosphoSiteiP00568.
SwissPalmiP00568.

Expressioni

Gene expression databases

BgeeiENSG00000106992.
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. 26 interactions.
IntActiP00568. 20 interactions.
STRINGi9606.ENSP00000362249.

Structurei

Secondary structure

194
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi1 – 55Combined sources
Beta strandi10 – 156Combined sources
Helixi21 – 3212Combined sources
Beta strandi35 – 384Combined sources
Helixi39 – 4810Combined sources
Helixi52 – 6211Combined sources
Helixi69 – 8315Combined sources
Turni84 – 863Combined sources
Beta strandi90 – 945Combined sources
Helixi99 – 10810Combined sources
Beta strandi113 – 1197Combined sources
Helixi122 – 13312Combined sources
Beta strandi135 – 1373Combined sources
Helixi139 – 1413Combined sources
Helixi143 – 15614Combined sources
Helixi158 – 16710Combined sources
Beta strandi170 – 1745Combined sources
Helixi179 – 19315Combined sources

3D structure databases

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

Miscellaneous databases

EvolutionaryTraceiP00568.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni38 – 6730NMPbindUniRule annotation2 PublicationsAdd
BLAST
Regioni131 – 14111LIDUniRule annotation2 PublicationsAdd
BLAST

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.
Gene3Di3.40.50.300. 1 hit.
HAMAPiMF_00235. Adenylate_kinase_Adk. 1 hit.
MF_03171. Adenylate_kinase_AK1. 1 hit.
InterProiIPR000850. Adenylat/UMP-CMP_kin.
IPR028582. AK1.
IPR006267. AK1/5.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR23359. PTHR23359. 1 hit.
PRINTSiPR00094. ADENYLTKNASE.
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR01360. aden_kin_iso1. 1 hit.
PROSITEiPS00113. ADENYLATE_KINASE. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti9 – 91K → N in AAH01116 (PubMed:15489334).Curated
Sequence conflicti127 – 1271Q → R AA sequence (PubMed:183954).Curated
Sequence conflicti181 – 1811S → E AA sequence (PubMed:183954).Curated

Polymorphismi

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti40 – 401G → R in HAAKD. 1 Publication
Corresponds to variant rs137853204 [ dbSNP | Ensembl ].
VAR_055337
Natural varianti64 – 641G → R in HAAKD. 1 Publication
Corresponds to variant rs137853205 [ dbSNP | Ensembl ].
VAR_055338
Natural varianti123 – 1231E → Q.
Corresponds to variant rs8192462 [ dbSNP | Ensembl ].
VAR_034046
Natural varianti128 – 1281R → W in HAAKD. 1 Publication
Corresponds to variant rs28930974 [ dbSNP | Ensembl ].
VAR_004021
Natural varianti140 – 1401Missing in HAAKD. 1 Publication
VAR_055339
Natural varianti164 – 1641Y → C in HAAKD. 1 Publication
Corresponds to variant rs137853203 [ dbSNP | Ensembl ].
VAR_055340

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.
UniGeneiHs.175473.

Genome annotation databases

EnsembliENST00000373156; ENSP00000362249; ENSG00000106992.
ENST00000373176; ENSP00000362271; ENSG00000106992.
GeneIDi203.
KEGGihsa:203.

Keywords - Coding sequence diversityi

Polymorphism

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.
UniGeneiHs.175473.

3D structure databases

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

Protein-protein interaction databases

BioGridi106706. 26 interactions.
IntActiP00568. 20 interactions.
STRINGi9606.ENSP00000362249.

Chemistry

ChEMBLiCHEMBL4925.

PTM databases

iPTMnetiP00568.
PhosphoSiteiP00568.
SwissPalmiP00568.

Polymorphism and mutation databases

BioMutaiAK1.
DMDMi20178288.

2D gel databases

OGPiP00568.
REPRODUCTION-2DPAGEIPI00018342.
UCD-2DPAGEP00568.

Proteomic databases

EPDiP00568.
PaxDbiP00568.
PeptideAtlasiP00568.
PRIDEiP00568.
TopDownProteomicsiP00568.

Protocols and materials databases

DNASUi203.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373156; ENSP00000362249; ENSG00000106992.
ENST00000373176; ENSP00000362271; ENSG00000106992.
GeneIDi203.
KEGGihsa:203.

Organism-specific databases

CTDi203.
GeneCardsiAK1.
HGNCiHGNC:361. AK1.
HPAiCAB009893.
HPA006456.
MalaCardsiAK1.
MIMi103000. gene.
612631. phenotype.
neXtProtiNX_P00568.
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. Synthesis and interconversion of nucleotide di- and triphosphates.
SABIO-RKP00568.

Miscellaneous databases

EvolutionaryTraceiP00568.
GenomeRNAii203.
PROiP00568.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000106992.
CleanExiHS_AK1.
ExpressionAtlasiP00568. baseline and differential.
GenevisibleiP00568. HS.

Family and domain databases

CDDicd01428. ADK. 1 hit.
Gene3Di3.40.50.300. 1 hit.
HAMAPiMF_00235. Adenylate_kinase_Adk. 1 hit.
MF_03171. Adenylate_kinase_AK1. 1 hit.
InterProiIPR000850. Adenylat/UMP-CMP_kin.
IPR028582. AK1.
IPR006267. AK1/5.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR23359. PTHR23359. 1 hit.
PRINTSiPR00094. ADENYLTKNASE.
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR01360. aden_kin_iso1. 1 hit.
PROSITEiPS00113. ADENYLATE_KINASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiKAD1_HUMAN
AccessioniPrimary (citable) accession number: P00568
Secondary accession number(s): Q9BVK9, Q9UQC7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: April 16, 2002
Last modified: September 7, 2016
This is version 180 of the entry and version 3 of the sequence. [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. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.