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    SHPK sedoheptulokinase [ Homo sapiens (human) ]

    Gene ID: 23729, updated on 8-Jul-2021

    Summary

    Official Symbol
    SHPKprovided by HGNC
    Official Full Name
    sedoheptulokinaseprovided by HGNC
    Primary source
    HGNC:HGNC:1492
    See related
    Ensembl:ENSG00000197417 MIM:605060
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SHK; CARKL
    Summary
    The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 7.3), duodenum (RPKM 6.9) and 25 other tissues See more
    Orthologs
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    Genomic context

    See SHPK in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (3608240..3636250, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (3511534..3539544, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene spermatogenesis associated 22 Neighboring gene aspartoacylase Neighboring gene transient receptor potential cation channel subfamily V member 3 Neighboring gene transient receptor potential cation channel subfamily V member 1 Neighboring gene pterin-4 alpha-carbinolamine dehydratase 2 pseudogene Neighboring gene uncharacterized LOC105371493 Neighboring gene uncharacterized LOC105371492 Neighboring gene cystinosin, lysosomal cystine transporter

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ32478

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphotransferase activity, alcohol group as acceptor IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables sedoheptulokinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables sedoheptulokinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sedoheptulokinase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to interleukin-13 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to interleukin-4 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to lipopolysaccharide IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular response to lipopolysaccharide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in pentose-phosphate shunt TAS
    Traceable Author Statement
    more info
     
    involved_in pentose-phosphate shunt, non-oxidative branch ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of macrophage activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    sedoheptulokinase
    Names
    carbohydrate kinase-like protein
    NP_037408.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_052852.1 RefSeqGene

      Range
      5073..33070
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_013276.4NP_037408.2  sedoheptulokinase

      See identical proteins and their annotated locations for NP_037408.2

      Status: REVIEWED

      Source sequence(s)
      AC027796, AF163573, BC020543
      Consensus CDS
      CCDS11030.1
      UniProtKB/Swiss-Prot
      Q9UHJ6
      UniProtKB/TrEMBL
      A0A0B4J2A0
      Related
      ENSP00000225519.3, ENST00000225519.5
      Conserved Domains (1) summary
      cd07777
      Location:5468
      FGGY_SHK_like; sedoheptulokinase-like proteins; a subfamily of the FGGY family of carbohydrate kinases

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      3608240..3636250 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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