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P00568

- KAD1_HUMAN

UniProt

P00568 - KAD1_HUMAN

Protein

Adenylate kinase isoenzyme 1

Gene

AK1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 160 (01 Oct 2014)
      Sequence version 3 (16 Apr 2002)
      Previous versions | rss
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    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.1 PublicationUniRule annotation

    Catalytic activityi

    ATP + AMP = 2 ADP.1 PublicationUniRule annotation
    ATP + nucleoside diphosphate = ADP + nucleoside triphosphate.1 PublicationUniRule annotation

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei39 – 391AMP
    Binding sitei44 – 441AMP
    Binding sitei101 – 1011AMP
    Binding sitei132 – 1321ATP
    Binding sitei138 – 1381AMP
    Binding sitei149 – 1491AMP
    Binding sitei177 – 1771ATP; via carbonyl oxygen

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi18 – 236ATP
    Nucleotide bindingi65 – 673AMP
    Nucleotide bindingi94 – 974AMP

    GO - Molecular functioni

    1. adenylate kinase activity Source: ProtInc
    2. ATP binding Source: UniProtKB-KW
    3. nucleoside diphosphate kinase activity Source: UniProtKB

    GO - Biological processi

    1. ADP biosynthetic process Source: UniProtKB-HAMAP
    2. AMP metabolic process Source: UniProtKB-HAMAP
    3. ATP metabolic process Source: UniProtKB-HAMAP
    4. cell cycle arrest Source: Ensembl
    5. nucleobase-containing small molecule interconversion Source: Reactome
    6. nucleobase-containing small molecule metabolic process Source: Reactome
    7. nucleoside diphosphate phosphorylation Source: UniProtKB
    8. nucleoside triphosphate biosynthetic process Source: UniProtKB
    9. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Kinase, Transferase

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    BRENDAi2.7.4.3. 2681.
    ReactomeiREACT_21330. 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
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:361. AK1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. cytosol Source: Reactome
    3. extracellular vesicular exosome Source: UniProt
    4. outer dense fiber Source: Ensembl
    5. plasma membrane Source: Ensembl
    6. sperm flagellum Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Hemolytic anemia due to adenylate kinase deficiency (HAAKD) [MIM:612631]: A disease characterized by hemolytic anemia and undetectable erythrocyte adenylate kinase activity.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti40 – 401G → R in HAAKD. 1 Publication
    VAR_055337
    Natural varianti64 – 641G → R in HAAKD. 1 Publication
    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
    VAR_055340

    Keywords - Diseasei

    Disease mutation, Hereditary hemolytic anemia

    Organism-specific databases

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

    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-acetylmethionine1 PublicationUniRule annotation

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiP00568.
    PaxDbiP00568.
    PRIDEiP00568.

    2D gel databases

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

    PTM databases

    PhosphoSiteiP00568.

    Expressioni

    Gene expression databases

    ArrayExpressiP00568.
    BgeeiP00568.
    CleanExiHS_AK1.
    GenevestigatoriP00568.

    Organism-specific databases

    HPAiCAB009893.
    HPA006456.

    Interactioni

    Subunit structurei

    Monomer.2 PublicationsUniRule annotation

    Protein-protein interaction databases

    BioGridi106706. 9 interactions.
    IntActiP00568. 1 interaction.
    STRINGi9606.ENSP00000362249.

    Structurei

    Secondary structure

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

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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 – 6730NMPbindAdd
    BLAST
    Regioni131 – 14111LIDAdd
    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.

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiCOG0563.
    HOGENOMiHOG000238771.
    HOVERGENiHBG108060.
    KOiK00939.
    OrthoDBiEOG7060S3.
    PhylomeDBiP00568.
    TreeFamiTF354283.

    Family and domain databases

    Gene3Di3.40.50.300. 1 hit.
    HAMAPiMF_00235. Adenylate_kinase_Adk.
    MF_03171. Adenylate_kinase_AK1.
    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

    MEEKLKKTKI IFVVGGPGSG KGTQCEKIVQ KYGYTHLSTG DLLRSEVSSG    50
    SARGKKLSEI MEKGQLVPLE TVLDMLRDAM VAKVNTSKGF LIDGYPREVQ 100
    QGEEFERRIG QPTLLLYVDA GPETMTQRLL KRGETSGRVD DNEETIKKRL 150
    ETYYKATEPV IAFYEKRGIV RKVNAEGSVD SVFSQVCTHL DALK 194
    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.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti40 – 401G → R in HAAKD. 1 Publication
    VAR_055337
    Natural varianti64 – 641G → R in HAAKD. 1 Publication
    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
    VAR_055340

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    UniGeneiHs.175473.

    Genome annotation databases

    EnsembliENST00000373156; ENSP00000362249; ENSG00000106992.
    ENST00000373176; ENSP00000362271; ENSG00000106992.
    GeneIDi203.
    KEGGihsa:203.
    UCSCiuc004bsm.4. human.

    Polymorphism databases

    DMDMi20178288.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    Adenylate kinase entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    J04809 Genomic DNA. Translation: AAA51686.1 .
    AB021871 mRNA. Translation: BAA78534.1 .
    BT019580 mRNA. Translation: AAV38387.1 .
    BC001116 mRNA. Translation: AAH01116.1 .
    CCDSi CCDS6881.1.
    PIRi A33508. KIHUA.
    RefSeqi NP_000467.1. NM_000476.2.
    UniGenei Hs.175473.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1Z83 X-ray 1.90 A/B/C 1-193 [» ]
    2C95 X-ray 1.71 A/B 1-193 [» ]
    ProteinModelPortali P00568.
    SMRi P00568. Positions 1-193.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106706. 9 interactions.
    IntActi P00568. 1 interaction.
    STRINGi 9606.ENSP00000362249.

    PTM databases

    PhosphoSitei P00568.

    Polymorphism databases

    DMDMi 20178288.

    2D gel databases

    OGPi P00568.
    REPRODUCTION-2DPAGE IPI00018342.
    UCD-2DPAGE P00568.

    Proteomic databases

    MaxQBi P00568.
    PaxDbi P00568.
    PRIDEi P00568.

    Protocols and materials databases

    DNASUi 203.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000373156 ; ENSP00000362249 ; ENSG00000106992 .
    ENST00000373176 ; ENSP00000362271 ; ENSG00000106992 .
    GeneIDi 203.
    KEGGi hsa:203.
    UCSCi uc004bsm.4. human.

    Organism-specific databases

    CTDi 203.
    GeneCardsi GC09M130628.
    HGNCi HGNC:361. AK1.
    HPAi CAB009893.
    HPA006456.
    MIMi 103000. gene.
    612631. phenotype.
    neXtProti NX_P00568.
    Orphaneti 86817. Hemolytic anemia due to adenylate kinase deficiency.
    PharmGKBi PA24655.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0563.
    HOGENOMi HOG000238771.
    HOVERGENi HBG108060.
    KOi K00939.
    OrthoDBi EOG7060S3.
    PhylomeDBi P00568.
    TreeFami TF354283.

    Enzyme and pathway databases

    BRENDAi 2.7.4.3. 2681.
    Reactomei REACT_21330. Synthesis and interconversion of nucleotide di- and triphosphates.
    SABIO-RK P00568.

    Miscellaneous databases

    EvolutionaryTracei P00568.
    GenomeRNAii 203.
    NextBioi 808.
    PROi P00568.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P00568.
    Bgeei P00568.
    CleanExi HS_AK1.
    Genevestigatori P00568.

    Family and domain databases

    Gene3Di 3.40.50.300. 1 hit.
    HAMAPi MF_00235. Adenylate_kinase_Adk.
    MF_03171. Adenylate_kinase_AK1.
    InterProi IPR000850. Adenylat/UMP-CMP_kin.
    IPR028582. AK1.
    IPR006267. AK1/5.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    PANTHERi PTHR23359. PTHR23359. 1 hit.
    PRINTSi PR00094. ADENYLTKNASE.
    SUPFAMi SSF52540. SSF52540. 1 hit.
    TIGRFAMsi TIGR01360. aden_kin_iso1. 1 hit.
    PROSITEi PS00113. ADENYLATE_KINASE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Primary and tertiary structure of the principal human adenylate kinase."
      von Zabern I., Wittmann-Liebold B., Untucht-Grau R., Schirmer R.H., Pai E.F.
      Eur. J. Biochem. 68:281-290(1976) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE, ACETYLATION AT MET-1.
      Tissue: Skeletal muscle.
    2. "Human adenylate kinase deficiency associated with hemolytic anemia. A single base substitution affecting solubility and catalytic activity of the cytosolic adenylate kinase."
      Matsuura S., Igarashi M., Tanizawa Y., Yamada M., Kishi F., Kajii T., Fujii H., Miwa S., Sakurai M., Nakazawa A.
      J. Biol. Chem. 264:10148-10155(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT HAAKD TRP-128.
    3. Noma T.
      Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Retina.
    4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Colon.
    6. Lubec G., Chen W.-Q., Sun Y.
      Submitted (DEC-2008) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 10-21; 32-44; 64-77; 89-97; 108-128; 156-166 AND 172-194, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Fetal brain cortex.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. "The human adenylate kinase 9 is a nucleoside mono- and diphosphate kinase."
      Amiri M., Conserva F., Panayiotou C., Karlsson A., Solaroli N.
      Int. J. Biochem. Cell Biol. 45:925-931(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CATALYTIC ACTIVITY.
    9. "Crystal structure of human AK1A in complex with AP5A."
      Structural genomics consortium (SGC)
      Submitted (MAR-2007) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) IN COMPLEX WITH BI-SUBSTRATE ANALOG AP5A.
    10. "Structure of adenylate kinase 1 in complex with P1, P4-di(adenosine)tetraphosphate."
      Structural genomics consortium (SGC)
      Submitted (DEC-2005) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (1.71 ANGSTROMS) IN COMPLEX WITH BI-SUBSTRATE ANALOG AP4A.
    11. "Severe erythrocyte adenylate kinase deficiency due to homozygous A-->G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia."
      Qualtieri A., Pedace V., Bisconte M.G., Bria M., Gulino B., Andreoli V., Brancati C.
      Br. J. Haematol. 99:770-776(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HAAKD CYS-164.
    12. "Red cell adenylate kinase deficiency: molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia."
      Corrons J.-L., Garcia E., Tusell J.J., Varughese K.I., West C., Beutler E.
      Blood 102:353-356(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HAAKD ARG-40; ARG-64 AND ASP-140 DEL.

    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: October 1, 2014
    This is version 160 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

    External Data

    Dasty 3