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UniProtKB - Q8IVS8 (GLCTK_HUMAN)

Protein

Glycerate kinase

Gene

GLYCTK

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

Functioni

Catalytic activityi

ATP + D-glycerate = ADP + 3-phospho-D-glycerate.2 Publications

Kineticsi

  1. KM=0.1 mM for D-glycerate1 Publication

    GO - Molecular functioni

    • ATP binding Source: UniProtKB-KW
    • glycerate kinase activity Source: UniProtKB
    View the complete GO annotation on QuickGO ...

    GO - Biological processi

    View the complete GO annotation on QuickGO ...

    Keywordsi

    Molecular functionKinase, Transferase
    LigandATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    BRENDAi2.7.1.31 2681
    ReactomeiR-HSA-70350 Fructose catabolism
    SABIO-RKiQ8IVS8

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Glycerate kinase (EC:2.7.1.312 Publications)
    Alternative name(s):
    HBeAg-binding protein 4
    Gene namesi
    Name:GLYCTK
    Synonyms:HBEBP4
    ORF Names:LP5910
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    Proteomesi
    • UP000005640 Componenti: Chromosome 3

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000168237.17
    HGNCiHGNC:24247 GLYCTK
    MIMi610516 gene
    neXtProtiNX_Q8IVS8

    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, Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    D-glyceric aciduria (D-GA)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA rare metabolic disease characterized by chronic metabolic acidosis and a highly variable clinical phenotype. Clinical features range from an encephalopathic presentation with seizures, microcephaly, severe mental retardation and early death, to milder manifestations with only speech delay or even normal development.
    See also OMIM:220120
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_065909493F → C in D-GA; the mutant protein is not expressed and has no enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs121909448EnsemblClinVar.1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNETi132158
    MalaCardsiGLYCTK
    MIMi220120 phenotype
    OpenTargetsiENSG00000168237
    Orphaneti941 D-glyceric aciduria
    PharmGKBiPA162389865

    Polymorphism and mutation databases

    BioMutaiGLYCTK
    DMDMi74728080

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00002871921 – 523Glycerate kinaseAdd BLAST523

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Modified residuei60PhosphoserineCombined sources1

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ8IVS8
    PaxDbiQ8IVS8
    PeptideAtlasiQ8IVS8
    PRIDEiQ8IVS8
    ProteomicsDBi70758
    70759 [Q8IVS8-2]
    70760 [Q8IVS8-3]
    70761 [Q8IVS8-4]
    70762 [Q8IVS8-5]
    70763 [Q8IVS8-6]
    70764 [Q8IVS8-7]

    PTM databases

    iPTMnetiQ8IVS8
    PhosphoSitePlusiQ8IVS8

    Expressioni

    Tissue specificityi

    Widely expressed.1 Publication

    Gene expression databases

    BgeeiENSG00000168237 Expressed in 116 organ(s), highest expression level in right lobe of liver
    CleanExiHS_GLYCTK
    ExpressionAtlasiQ8IVS8 baseline and differential
    GenevisibleiQ8IVS8 HS

    Organism-specific databases

    HPAiHPA006913

    Interactioni

    Binary interactionsi

    Protein-protein interaction databases

    BioGridi126307, 14 interactors
    IntActiQ8IVS8, 64 interactors
    MINTiQ8IVS8
    STRINGi9606.ENSP00000389175

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IVS8
    SMRiQ8IVS8
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Compositional biasi94 – 97Poly-Ala4

    Sequence similaritiesi

    Belongs to the glycerate kinase type-2 family.Curated

    Phylogenomic databases

    eggNOGiKOG3935 Eukaryota
    COG2379 LUCA
    GeneTreeiENSGT00390000014365
    HOVERGENiHBG098351
    InParanoidiQ8IVS8
    KOiK11529
    OMAiHTGTNVM
    OrthoDBiEOG091G0HT4
    PhylomeDBiQ8IVS8
    TreeFamiTF313770

    Family and domain databases

    Gene3Di3.40.50.10180, 1 hit
    InterProiView protein in InterPro
    IPR038614 GK_N_sf
    IPR007835 MOFRL
    IPR025286 MOFRL_assoc_dom
    PfamiView protein in Pfam
    PF13660 DUF4147, 1 hit
    PF05161 MOFRL, 1 hit

    Sequences (7+)i

    Sequence statusi: Complete.

    This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 7 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q8IVS8-1) [UniParc]FASTAAdd to basket
    Also known as: Glycerate kinase 11 Publication, GLYCTK11 Publication

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MAAALQVLPR LARAPLHPLL WRGSVARLAS SMALAEQARQ LFESAVGAVL 
            60         70         80         90        100
    PGPMLHRALS LDPGGRQLKV RDRNFQLRQN LYLVGFGKAV LGMAAAAEEL 
           110        120        130        140        150
    LGQHLVQGVI SVPKGIRAAM ERAGKQEMLL KPHSRVQVFE GAEDNLPDRD 
           160        170        180        190        200
    ALRAALAIQQ LAEGLTADDL LLVLISGGGS ALLPAPIPPV TLEEKQTLTR 
           210        220        230        240        250
    LLAARGATIQ ELNTIRKALS QLKGGGLAQA AYPAQVVSLI LSDVVGDPVE 
           260        270        280        290        300
    VIASGPTVAS SHNVQDCLHI LNRYGLRAAL PRSVKTVLSR ADSDPHGPHT 
           310        320        330        340        350
    CGHVLNVIIG SNVLALAEAQ RQAEALGYQA VVLSAAMQGD VKSMAQFYGL 
           360        370        380        390        400
    LAHVARTRLT PSMAGASVEE DAQLHELAAE LQIPDLQLEE ALETMAWGRG 
           410        420        430        440        450
    PVCLLAGGEP TVQLQGSGRG GRNQELALRV GAELRRWPLG PIDVLFLSGG 
           460        470        480        490        500
    TDGQDGPTEA AGAWVTPELA SQAAAEGLDI ATFLAHNDSH TFFCCLQGGA 
           510        520 
    HLLHTGMTGT NVMDTHLLFL RPR
    Length:523
    Mass (Da):55,253
    Last modified:March 1, 2003 - v1
    Checksum:iCCBEC88E8850FC11
    GO
    Isoform 2 (identifier: Q8IVS8-2) [UniParc]FASTAAdd to basket
    Also known as: Glycerate kinase 21 Publication, GLYCTK21 Publication

    The sequence of this isoform differs from the canonical sequence as follows:
         179-234: GSALLPAPIP...GGLAQAAYPA → EPHPVRCGGG...CEDCAVSGRL
         235-523: Missing.

    Show »
    Length:234
    Mass (Da):25,037
    Checksum:iFC94283B39472157
    GO
    Isoform 3 (identifier: Q8IVS8-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         119-184: Missing.

    Show »
    Length:457
    Mass (Da):48,276
    Checksum:iF14D0F0F05086422
    GO
    Isoform 4 (identifier: Q8IVS8-4) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         340-367: DVKSMAQFYGLLAHVARTRLTPSMAGAS → WGTPAAHRDDRYQCHGHPPLVPAASVMA
         368-523: Missing.

    Show »
    Length:367
    Mass (Da):38,743
    Checksum:iBD1676AC40F6A128
    GO
    Isoform 5 (identifier: Q8IVS8-5) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-127: Missing.
         340-367: DVKSMAQFYGLLAHVARTRLTPSMAGAS → WGTPAAHRDDRYQCHGHPPIVPAASVMA
         368-523: Missing.

    Show »
    Length:240
    Mass (Da):25,138
    Checksum:i2D3CC412413553BF
    GO
    Isoform 6 (identifier: Q8IVS8-6) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-336: Missing.

    Show »
    Length:187
    Mass (Da):19,867
    Checksum:iA0D08595835AABD5
    GO
    Isoform 7 (identifier: Q8IVS8-7) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         178-205: GGSALLPAPIPPVTLEEKQTLTRLLAAR → WGTPAAHRDDRYQCHGHPPLVPAASVMA
         206-523: Missing.

    Show »
    Length:205
    Mass (Da):22,027
    Checksum:i44BEE76722C8F7A8
    GO

    Computationally mapped potential isoform sequencesi

    There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    		Gene namesLengthAnnotation
    C9JA32C9JA32_HUMAN
    CG9886-like, isoform CRA_f
    GLYCTK hCG_42582
    		240Annotation score:
    C9J3N5C9J3N5_HUMAN
    CG9886-like, isoform CRA_a
    GLYCTK hCG_42582
    		283Annotation score:
    A0A0C4DGA0A0A0C4DGA0_HUMAN
    CG9886-like, isoform CRA_d
    GLYCTK hCG_42582
    		212Annotation score:

    Sequence cautioni

    The sequence AAH36862 differs from that shown. Reason: Frameshift at position 177.Curated

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Sequence conflicti144D → Y in AAP51132 (PubMed:16753811).Curated1
    Sequence conflicti245V → E in BAB85018 (PubMed:14702039).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_06120527R → C. Corresponds to variant dbSNP:rs34502608Ensembl.1
    Natural variantiVAR_032285170L → V. Corresponds to variant dbSNP:rs35130772Ensembl.1
    Natural variantiVAR_032286394T → I. Corresponds to variant dbSNP:rs9813489EnsemblClinVar.1
    Natural variantiVAR_065909493F → C in D-GA; the mutant protein is not expressed and has no enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs121909448EnsemblClinVar.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_0253561 – 336Missing in isoform 6. 2 PublicationsAdd BLAST336
    Alternative sequenceiVSP_0253571 – 127Missing in isoform 5. 1 PublicationAdd BLAST127
    Alternative sequenceiVSP_025358119 – 184Missing in isoform 3. 1 PublicationAdd BLAST66
    Alternative sequenceiVSP_025359178 – 205GGSAL…LLAAR → WGTPAAHRDDRYQCHGHPPL VPAASVMA in isoform 7. 1 PublicationAdd BLAST28
    Alternative sequenceiVSP_025360179 – 234GSALL…AAYPA → EPHPVRCGGGPCGGDCQWPH RGQFPQCARLPAYPQSLRPP CSPATFCEDCAVSGRL in isoform 2. 1 PublicationAdd BLAST56
    Alternative sequenceiVSP_025361206 – 523Missing in isoform 7. 1 PublicationAdd BLAST318
    Alternative sequenceiVSP_025362235 – 523Missing in isoform 2. 1 PublicationAdd BLAST289
    Alternative sequenceiVSP_025363340 – 367DVKSM…MAGAS → WGTPAAHRDDRYQCHGHPPL VPAASVMA in isoform 4. 1 PublicationAdd BLAST28
    Alternative sequenceiVSP_025364340 – 367DVKSM…MAGAS → WGTPAAHRDDRYQCHGHPPI VPAASVMA in isoform 5. 1 PublicationAdd BLAST28
    Alternative sequenceiVSP_025365368 – 523Missing in isoform 4 and isoform 5. 2 PublicationsAdd BLAST156

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    		AY295075 mRNA Translation: AAP51132.1
    AF448855 mRNA Translation: AAP41923.1
    AY172690 mRNA Translation: AAO17719.1
    AY189286 mRNA Translation: AAO86730.1
    AK074215 mRNA Translation: BAB85018.1
    AY134474 mRNA Translation: AAM95456.1
    DQ352863 mRNA Translation: ABD22985.1
    BC021896 mRNA Translation: AAH21896.1
    BC036862 mRNA Translation: AAH36862.1 Frameshift.
    BC042151 mRNA Translation: AAH42151.1
    CCDSiCCDS2852.1 [Q8IVS8-1]
    CCDS46841.1 [Q8IVS8-2]
    RefSeqiNP_001138423.1, NM_001144951.1 [Q8IVS8-2]
    NP_660305.2, NM_145262.3 [Q8IVS8-1]
    UniGeneiHs.415312

    Genome annotation databases

    EnsembliENST00000305690; ENSP00000301965; ENSG00000168237 [Q8IVS8-2]
    ENST00000436784; ENSP00000389175; ENSG00000168237 [Q8IVS8-1]
    ENST00000473032; ENSP00000418951; ENSG00000168237 [Q8IVS8-7]
    ENST00000477382; ENSP00000419008; ENSG00000168237 [Q8IVS8-2]
    GeneIDi132158
    KEGGihsa:132158
    UCSCiuc003ddo.4 human [Q8IVS8-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Similar proteinsi

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    		AY295075 mRNA Translation: AAP51132.1
    AF448855 mRNA Translation: AAP41923.1
    AY172690 mRNA Translation: AAO17719.1
    AY189286 mRNA Translation: AAO86730.1
    AK074215 mRNA Translation: BAB85018.1
    AY134474 mRNA Translation: AAM95456.1
    DQ352863 mRNA Translation: ABD22985.1
    BC021896 mRNA Translation: AAH21896.1
    BC036862 mRNA Translation: AAH36862.1 Frameshift.
    BC042151 mRNA Translation: AAH42151.1
    CCDSiCCDS2852.1 [Q8IVS8-1]
    CCDS46841.1 [Q8IVS8-2]
    RefSeqiNP_001138423.1, NM_001144951.1 [Q8IVS8-2]
    NP_660305.2, NM_145262.3 [Q8IVS8-1]
    UniGeneiHs.415312

    3D structure databases

    ProteinModelPortaliQ8IVS8
    SMRiQ8IVS8
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi126307, 14 interactors
    IntActiQ8IVS8, 64 interactors
    MINTiQ8IVS8
    STRINGi9606.ENSP00000389175

    PTM databases

    iPTMnetiQ8IVS8
    PhosphoSitePlusiQ8IVS8

    Polymorphism and mutation databases

    BioMutaiGLYCTK
    DMDMi74728080

    Proteomic databases

    MaxQBiQ8IVS8
    PaxDbiQ8IVS8
    PeptideAtlasiQ8IVS8
    PRIDEiQ8IVS8
    ProteomicsDBi70758
    70759 [Q8IVS8-2]
    70760 [Q8IVS8-3]
    70761 [Q8IVS8-4]
    70762 [Q8IVS8-5]
    70763 [Q8IVS8-6]
    70764 [Q8IVS8-7]

    Protocols and materials databases

    DNASUi132158
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000305690; ENSP00000301965; ENSG00000168237 [Q8IVS8-2]
    ENST00000436784; ENSP00000389175; ENSG00000168237 [Q8IVS8-1]
    ENST00000473032; ENSP00000418951; ENSG00000168237 [Q8IVS8-7]
    ENST00000477382; ENSP00000419008; ENSG00000168237 [Q8IVS8-2]
    GeneIDi132158
    KEGGihsa:132158
    UCSCiuc003ddo.4 human [Q8IVS8-1]

    Organism-specific databases

    CTDi132158
    DisGeNETi132158
    EuPathDBiHostDB:ENSG00000168237.17
    GeneCardsiGLYCTK
    HGNCiHGNC:24247 GLYCTK
    HPAiHPA006913
    MalaCardsiGLYCTK
    MIMi220120 phenotype
    610516 gene
    neXtProtiNX_Q8IVS8
    OpenTargetsiENSG00000168237
    Orphaneti941 D-glyceric aciduria
    PharmGKBiPA162389865
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG3935 Eukaryota
    COG2379 LUCA
    GeneTreeiENSGT00390000014365
    HOVERGENiHBG098351
    InParanoidiQ8IVS8
    KOiK11529
    OMAiHTGTNVM
    OrthoDBiEOG091G0HT4
    PhylomeDBiQ8IVS8
    TreeFamiTF313770

    Enzyme and pathway databases

    BRENDAi2.7.1.31 2681
    ReactomeiR-HSA-70350 Fructose catabolism
    SABIO-RKiQ8IVS8

    Miscellaneous databases

    ChiTaRSiGLYCTK human
    GenomeRNAii132158
    PROiPR:Q8IVS8
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000168237 Expressed in 116 organ(s), highest expression level in right lobe of liver
    CleanExiHS_GLYCTK
    ExpressionAtlasiQ8IVS8 baseline and differential
    GenevisibleiQ8IVS8 HS

    Family and domain databases

    Gene3Di3.40.50.10180, 1 hit
    InterProiView protein in InterPro
    IPR038614 GK_N_sf
    IPR007835 MOFRL
    IPR025286 MOFRL_assoc_dom
    PfamiView protein in Pfam
    PF13660 DUF4147, 1 hit
    PF05161 MOFRL, 1 hit
    ProtoNetiSearch...

    Entry informationi

    Entry nameiGLCTK_HUMAN
    AccessioniPrimary (citable) accession number: Q8IVS8
    Secondary accession number(s): Q0P630
    , Q2EZ43, Q6Y2K6, Q7Z6G5, Q86YR8, Q8TED2, Q8WTY2
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
    Last sequence update: March 1, 2003
    Last modified: September 12, 2018
    This is version 129 of the entry and version 1 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: 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. SIMILARITY comments
      Index of protein domains and families
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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