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Protein

Glycerate kinase

Gene

GLYCTK

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

    GO - Biological processi

    Complete GO annotation...

    Keywords - Molecular functioni

    Kinase, Transferase

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    BRENDAi2.7.1.31. 2681.
    ReactomeiR-HSA-70350. Fructose catabolism.
    SABIO-RKQ8IVS8.

    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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:24247. GLYCTK.

    Subcellular locationi

    Isoform 1 :
    Isoform 2 :

    GO - Cellular componenti

    • cytoplasm Source: UniProtKB
    • cytosol Source: Reactome
    • mitochondrion Source: UniProtKB-SubCell
    Complete GO annotation...

    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)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti493 – 4931F → C in D-GA; the mutant protein is not expressed and has no enzymatic activity. 1 Publication
    Corresponds to variant rs121909448 [ dbSNP | Ensembl ].
    VAR_065909

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MalaCardsiGLYCTK.
    MIMi220120. phenotype.
    Orphaneti941. D-glyceric aciduria.
    PharmGKBiPA162389865.

    Polymorphism and mutation databases

    BioMutaiGLYCTK.
    DMDMi74728080.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 523523Glycerate kinasePRO_0000287192Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei60 – 601PhosphoserineCombined sources

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    EPDiQ8IVS8.
    MaxQBiQ8IVS8.
    PaxDbiQ8IVS8.
    PeptideAtlasiQ8IVS8.
    PRIDEiQ8IVS8.

    PTM databases

    iPTMnetiQ8IVS8.
    PhosphoSiteiQ8IVS8.

    Expressioni

    Tissue specificityi

    Widely expressed.1 Publication

    Gene expression databases

    BgeeiENSG00000168237.
    CleanExiHS_GLYCTK.
    ExpressionAtlasiQ8IVS8. baseline and differential.
    GenevisibleiQ8IVS8. HS.

    Organism-specific databases

    HPAiHPA006913.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CALCOCO2Q131373EBI-748515,EBI-739580
    DTX2Q4ZH493EBI-748515,EBI-10192429
    GOLGA2Q083793EBI-748515,EBI-618309
    KLHL12Q53G593EBI-748515,EBI-740929
    KRT15P190123EBI-748515,EBI-739566
    RBPMSQ930623EBI-748515,EBI-740322
    RELQ048643EBI-748515,EBI-307352
    SAXO1Q8IYX73EBI-748515,EBI-3957636
    TRIM27P143733EBI-748515,EBI-719493
    TRIM42A1L4B63EBI-748515,EBI-10172216
    TRIP13Q156456EBI-748515,EBI-358993
    TUBGCP4Q9UGJ13EBI-748515,EBI-1052544

    Protein-protein interaction databases

    BioGridi126307. 14 interactions.
    IntActiQ8IVS8. 16 interactions.
    MINTiMINT-1440661.
    STRINGi9606.ENSP00000389175.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IVS8.
    SMRiQ8IVS8. Positions 83-514.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi94 – 974Poly-Ala

    Sequence similaritiesi

    Belongs to the glycerate kinase type-2 family.Curated

    Phylogenomic databases

    eggNOGiKOG3935. Eukaryota.
    COG2379. LUCA.
    GeneTreeiENSGT00390000014365.
    HOVERGENiHBG098351.
    InParanoidiQ8IVS8.
    KOiK15788.
    OMAiTHTNVND.
    OrthoDBiEOG091G0HT4.
    PhylomeDBiQ8IVS8.
    TreeFamiTF313770.

    Family and domain databases

    Gene3Di3.40.1480.10. 2 hits.
    InterProiIPR007835. MOFRL.
    IPR025286. MOFRL_assoc_dom.
    [Graphical view]
    PfamiPF13660. DUF4147. 1 hit.
    PF05161. MOFRL. 1 hit.
    [Graphical view]

    Sequences (7)i

    Sequence statusi: Complete.

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

    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

    Sequence cautioni

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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti144 – 1441D → Y in AAP51132 (PubMed:16753811).Curated
    Sequence conflicti245 – 2451V → E in BAB85018 (PubMed:14702039).Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti27 – 271R → C.
    Corresponds to variant rs34502608 [ dbSNP | Ensembl ].
    VAR_061205
    Natural varianti170 – 1701L → V.
    Corresponds to variant rs35130772 [ dbSNP | Ensembl ].
    VAR_032285
    Natural varianti394 – 3941T → I.
    Corresponds to variant rs9813489 [ dbSNP | Ensembl ].
    VAR_032286
    Natural varianti493 – 4931F → C in D-GA; the mutant protein is not expressed and has no enzymatic activity. 1 Publication
    Corresponds to variant rs121909448 [ dbSNP | Ensembl ].
    VAR_065909

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 336336Missing in isoform 6. 2 PublicationsVSP_025356Add
    BLAST
    Alternative sequencei1 – 127127Missing in isoform 5. 1 PublicationVSP_025357Add
    BLAST
    Alternative sequencei119 – 18466Missing in isoform 3. 1 PublicationVSP_025358Add
    BLAST
    Alternative sequencei178 – 20528GGSAL…LLAAR → WGTPAAHRDDRYQCHGHPPL VPAASVMA in isoform 7. 1 PublicationVSP_025359Add
    BLAST
    Alternative sequencei179 – 23456GSALL…AAYPA → EPHPVRCGGGPCGGDCQWPH RGQFPQCARLPAYPQSLRPP CSPATFCEDCAVSGRL in isoform 2. 1 PublicationVSP_025360Add
    BLAST
    Alternative sequencei206 – 523318Missing in isoform 7. 1 PublicationVSP_025361Add
    BLAST
    Alternative sequencei235 – 523289Missing in isoform 2. 1 PublicationVSP_025362Add
    BLAST
    Alternative sequencei340 – 36728DVKSM…MAGAS → WGTPAAHRDDRYQCHGHPPL VPAASVMA in isoform 4. 1 PublicationVSP_025363Add
    BLAST
    Alternative sequencei340 – 36728DVKSM…MAGAS → WGTPAAHRDDRYQCHGHPPI VPAASVMA in isoform 5. 1 PublicationVSP_025364Add
    BLAST
    Alternative sequencei368 – 523156Missing in isoform 4 and isoform 5. 2 PublicationsVSP_025365Add
    BLAST

    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

    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. Positions 83-514.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi126307. 14 interactions.
    IntActiQ8IVS8. 16 interactions.
    MINTiMINT-1440661.
    STRINGi9606.ENSP00000389175.

    PTM databases

    iPTMnetiQ8IVS8.
    PhosphoSiteiQ8IVS8.

    Polymorphism and mutation databases

    BioMutaiGLYCTK.
    DMDMi74728080.

    Proteomic databases

    EPDiQ8IVS8.
    MaxQBiQ8IVS8.
    PaxDbiQ8IVS8.
    PeptideAtlasiQ8IVS8.
    PRIDEiQ8IVS8.

    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.
    GeneCardsiGLYCTK.
    HGNCiHGNC:24247. GLYCTK.
    HPAiHPA006913.
    MalaCardsiGLYCTK.
    MIMi220120. phenotype.
    610516. gene.
    neXtProtiNX_Q8IVS8.
    Orphaneti941. D-glyceric aciduria.
    PharmGKBiPA162389865.
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG3935. Eukaryota.
    COG2379. LUCA.
    GeneTreeiENSGT00390000014365.
    HOVERGENiHBG098351.
    InParanoidiQ8IVS8.
    KOiK15788.
    OMAiTHTNVND.
    OrthoDBiEOG091G0HT4.
    PhylomeDBiQ8IVS8.
    TreeFamiTF313770.

    Enzyme and pathway databases

    BRENDAi2.7.1.31. 2681.
    ReactomeiR-HSA-70350. Fructose catabolism.
    SABIO-RKQ8IVS8.

    Miscellaneous databases

    ChiTaRSiGLYCTK. human.
    GenomeRNAii132158.
    PROiQ8IVS8.
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000168237.
    CleanExiHS_GLYCTK.
    ExpressionAtlasiQ8IVS8. baseline and differential.
    GenevisibleiQ8IVS8. HS.

    Family and domain databases

    Gene3Di3.40.1480.10. 2 hits.
    InterProiIPR007835. MOFRL.
    IPR025286. MOFRL_assoc_dom.
    [Graphical view]
    PfamiPF13660. DUF4147. 1 hit.
    PF05161. MOFRL. 1 hit.
    [Graphical view]
    ProtoNetiSearch...

    Entry informationi

    Entry nameiGLCTK_HUMAN
    AccessioniPrimary (citable) accession number: Q8IVS8
    Secondary accession number(s): Q0P630
    , Q2EZ43, Q6Y2K6, Q7Z6G5, Q86YR8, Q8TED2, Q8WTY2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 15, 2007
    Last sequence update: March 1, 2003
    Last modified: September 7, 2016
    This is version 112 of the entry and version 1 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

    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. 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. 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.