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Protein

Sedoheptulokinase

Gene

SHPK

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Acts as a modulator of macrophage activation through control of glucose metabolism.By similarity

Catalytic activityi

ATP + sedoheptulose = ADP + sedoheptulose 7-phosphate.1 Publication

Kineticsi

  1. KM=0.06 mM for sedoheptulose1 Publication

    pH dependencei

    Optimum pH is 8.5.1 Publication

    GO - Molecular functioni

    • ATP binding Source: UniProtKB-KW
    • sedoheptulokinase activity Source: UniProtKB

    GO - Biological processi

    Keywordsi

    Molecular functionKinase, Transferase
    LigandATP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sedoheptulokinase (EC:2.7.1.14)
    Short name:
    SHK
    Alternative name(s):
    Carbohydrate kinase-like protein
    Gene namesi
    Name:SHPK
    Synonyms:CARKL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:1492. SHPK.

    Subcellular locationi

    GO - Cellular componenti

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Sedoheptulokinase deficiency (SHPKD)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn autosomal recessive metabolic disease characterized by increased urinary erythritol and sedoheptulose. Neonatal cholestasis, hypoglycemia, anemia, congenital arthrogryposis multiplex, multiple contractures and dysmorphisms have been reported in SHPKD patients, but the relationship of these features to the SHPKD is unclear.
    See also OMIM:617213

    Organism-specific databases

    DisGeNETi23729.
    MalaCardsiSHPK.
    MIMi617213. phenotype.
    PharmGKBiPA162403312.

    Polymorphism and mutation databases

    BioMutaiSHPK.
    DMDMi296452959.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00000595641 – 478SedoheptulokinaseAdd BLAST478

    Proteomic databases

    EPDiQ9UHJ6.
    MaxQBiQ9UHJ6.
    PaxDbiQ9UHJ6.
    PeptideAtlasiQ9UHJ6.
    PRIDEiQ9UHJ6.
    TopDownProteomicsiQ9UHJ6.

    PTM databases

    iPTMnetiQ9UHJ6.
    PhosphoSitePlusiQ9UHJ6.

    Expressioni

    Tissue specificityi

    Strongly expressed in liver, kidney and pancreas. Expressed at lower levels in placenta and heart. Very weakly expressed in lung and brain.1 Publication

    Inductioni

    Down-regulated by LPS.1 Publication

    Gene expression databases

    BgeeiENSG00000197417.
    CleanExiHS_SHPK.
    GenevisibleiQ9UHJ6. HS.

    Organism-specific databases

    HPAiHPA024361.
    HPA064939.

    Interactioni

    Protein-protein interaction databases

    BioGridi117235. 12 interactors.
    IntActiQ9UHJ6. 1 interactor.
    STRINGi9606.ENSP00000225519.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UHJ6.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the FGGY kinase family.Curated

    Phylogenomic databases

    eggNOGiKOG2517. Eukaryota.
    COG0554. LUCA.
    HOGENOMiHOG000008078.
    HOVERGENiHBG050796.
    InParanoidiQ9UHJ6.
    KOiK11214.
    OrthoDBiEOG091G0DT2.
    PhylomeDBiQ9UHJ6.
    TreeFamiTF315140.

    Family and domain databases

    InterProiView protein in InterPro
    IPR018484. Carb_kinase_FGGY_N.
    PfamiView protein in Pfam
    PF00370. FGGY_N. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q9UHJ6-1 [UniParc]FASTAAdd to basket

    « Hide

            10         20         30         40         50
    MAARPITLGI DLGTTSVKAA LLRAAPDDPS GFAVLASCAR AARAEAAVES
    60 70 80 90 100
    AVAGPQGREQ DVSRILQALH ECLAALPRPQ LRSVVGIGVS GQMHGVVFWK
    110 120 130 140 150
    TGQGCEWTEG GITPVFEPRA VSHLVTWQDG RCSSEFLASL PQPKSHLSVA
    160 170 180 190 200
    TGFGCATIFW LLKYRPEFLK SYDAAGTIHD YVVAMLCGLP RPLMSDQNAA
    210 220 230 240 250
    SWGYFNTQSQ SWNVETLRSS GFPVHLLPDI AEPGSVAGRT SHMWFEIPKG
    260 270 280 290 300
    TQVGVALGDL QASVYSCMAQ RTDAVLNIST SVQLAASMPS GFQPAQTPDP
    310 320 330 340 350
    TAPVAYFPYF NRTYLGVAAS LNGGNVLATF VHMLVQWMAD LGLEVEESTV
    360 370 380 390 400
    YSRMIQAAVQ QRDTHLTITP TVLGERHLPD QLASVTRISS SDLSLGHVTR
    410 420 430 440 450
    ALCRGIVQNL HSMLPIQQLQ DWGVERVMGS GSALSRNDVL KQEVQRAFPL
    460 470
    PMSFGQDVDA AVGAALVMLR RHLNQKES
    Length:478
    Mass (Da):51,491
    Last modified:May 18, 2010 - v3
    Checksum:i0C920A380927AC1E
    GO

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_042580215E → K1 PublicationCorresponds to variant dbSNP:rs150857Ensembl.1
    Natural variantiVAR_048591421D → E5 PublicationsCorresponds to variant dbSNP:rs224496Ensembl.1
    Natural variantiVAR_048592434L → M. Corresponds to variant dbSNP:rs36125540Ensembl.1

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AF163573 mRNA. Translation: AAF24936.1.
    AF168787 Genomic DNA. Translation: AAF43103.1.
    AK312428 mRNA. Translation: BAG35337.1.
    AL832420 mRNA. Translation: CAH10646.1.
    AC027796 Genomic DNA. No translation available.
    CH471108 Genomic DNA. Translation: EAW90501.1.
    BC020543 mRNA. Translation: AAH20543.1.
    CCDSiCCDS11030.1.
    RefSeqiNP_037408.2. NM_013276.2.
    UniGeneiHs.579217.

    Genome annotation databases

    EnsembliENST00000225519; ENSP00000225519; ENSG00000197417.
    GeneIDi23729.
    KEGGihsa:23729.
    UCSCiuc002fvz.1. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AF163573 mRNA. Translation: AAF24936.1.
    AF168787 Genomic DNA. Translation: AAF43103.1.
    AK312428 mRNA. Translation: BAG35337.1.
    AL832420 mRNA. Translation: CAH10646.1.
    AC027796 Genomic DNA. No translation available.
    CH471108 Genomic DNA. Translation: EAW90501.1.
    BC020543 mRNA. Translation: AAH20543.1.
    CCDSiCCDS11030.1.
    RefSeqiNP_037408.2. NM_013276.2.
    UniGeneiHs.579217.

    3D structure databases

    ProteinModelPortaliQ9UHJ6.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi117235. 12 interactors.
    IntActiQ9UHJ6. 1 interactor.
    STRINGi9606.ENSP00000225519.

    PTM databases

    iPTMnetiQ9UHJ6.
    PhosphoSitePlusiQ9UHJ6.

    Polymorphism and mutation databases

    BioMutaiSHPK.
    DMDMi296452959.

    Proteomic databases

    EPDiQ9UHJ6.
    MaxQBiQ9UHJ6.
    PaxDbiQ9UHJ6.
    PeptideAtlasiQ9UHJ6.
    PRIDEiQ9UHJ6.
    TopDownProteomicsiQ9UHJ6.

    Protocols and materials databases

    DNASUi23729.
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000225519; ENSP00000225519; ENSG00000197417.
    GeneIDi23729.
    KEGGihsa:23729.
    UCSCiuc002fvz.1. human.

    Organism-specific databases

    CTDi23729.
    DisGeNETi23729.
    GeneCardsiSHPK.
    HGNCiHGNC:1492. SHPK.
    HPAiHPA024361.
    HPA064939.
    MalaCardsiSHPK.
    MIMi605060. gene.
    617213. phenotype.
    neXtProtiNX_Q9UHJ6.
    PharmGKBiPA162403312.
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG2517. Eukaryota.
    COG0554. LUCA.
    HOGENOMiHOG000008078.
    HOVERGENiHBG050796.
    InParanoidiQ9UHJ6.
    KOiK11214.
    OrthoDBiEOG091G0DT2.
    PhylomeDBiQ9UHJ6.
    TreeFamiTF315140.

    Miscellaneous databases

    GenomeRNAii23729.
    PROiPR:Q9UHJ6.
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000197417.
    CleanExiHS_SHPK.
    GenevisibleiQ9UHJ6. HS.

    Family and domain databases

    InterProiView protein in InterPro
    IPR018484. Carb_kinase_FGGY_N.
    PfamiView protein in Pfam
    PF00370. FGGY_N. 1 hit.
    ProtoNetiSearch...

    Entry informationi

    Entry nameiSHPK_HUMAN
    AccessioniPrimary (citable) accession number: Q9UHJ6
    Secondary accession number(s): B2R640, Q8WUH3
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: May 18, 2010
    Last modified: March 15, 2017
    This is version 130 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: 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.