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    IDNK IDNK gluconokinase [ Homo sapiens (human) ]

    Gene ID: 414328, updated on 14-Nov-2024

    Summary

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    Official Symbol
    IDNKprovided by HGNC
    Official Full Name
    IDNK gluconokinaseprovided by HGNC
    Primary source
    HGNC:HGNC:31367
    See related
    Ensembl:ENSG00000148057 MIM:611343; AllianceGenome:HGNC:31367
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    hGntK; C9orf103; bA522I20.2
    Summary
    Predicted to enable gluconokinase activity. Predicted to be involved in D-gluconate catabolic process. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 3.7), liver (RPKM 2.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IDNK in Genome Data Viewer
    Location:
    9q21.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (83623006..83644123)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (95772739..95793849)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (86238058..86259038)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene FERM domain containing 3 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28493 Neighboring gene Sharpr-MPRA regulatory region 3056 Neighboring gene Sharpr-MPRA regulatory region 13153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28495 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19977 Neighboring gene RNA, U4 small nuclear 15, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:86243894-86244482 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:86244483-86245069 Neighboring gene ubiquilin 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:86321896-86322786 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:86322787-86323675 Neighboring gene uncharacterized LOC124902191 Neighboring gene UBQLN1 antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Kinetic analysis of gluconate phosphorylation by human gluconokinase using isothermal titration calorimetry. Rohatgi N, et al. FEBS Lett, 2015 Nov 30. PMID 26505675
    2. Biochemical characterization of human gluconokinase and the proposed metabolic impact of gluconic acid as determined by constraint based metabolic network analysis. Rohatgi N, et al. PLoS One, 2014. PMID 24896608, Free PMC Article
    3. Inferring the metabolism of human orphan metabolites from their metabolic network context affirms human gluconokinase activity. Rolfsson Ó, et al. Biochem J, 2013 Jan 15. PMID 23067238
    4. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. Wang AG, et al. Biochem Biophys Res Commun, 2006 Jul 7. PMID 16712791
    5. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data show that C9orf103 encodes a functional gluconokinase.
      Title: Inferring the metabolism of human orphan metabolites from their metabolic network context affirms human gluconokinase activity.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables gluconokinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in D-gluconate catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in D-gluconate catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    probable gluconokinase
    Names
    glucokinase-like protein
    gluconate kinase
    gluconokinase-like protein
    idnK, gluconokinase homolog
    NP_001001551.2
    NP_001243844.1
    NP_001338464.1
    XP_006717173.2
    XP_006717174.1
    XP_047279359.1
    XP_054218962.1
    XP_054218963.1
    XP_054218964.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001001551.4 → NP_001001551.2  probable gluconokinase isoform 1

      See identical proteins and their annotated locations for NP_001001551.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AY615889, BC036421
      Consensus CDS
      CCDS35048.2
      UniProtKB/Swiss-Prot
      A5PLN6, Q5T6J6, Q5T6J7
      Related
      ENSP00000365601.4, ENST00000376419.5
      Conserved Domains (2) summary
      COG3265
      Location:10 → 185
      GntK; Gluconate kinase [Carbohydrate transport and metabolism]
      pfam13671
      Location:7 → 158
      AAA_33; AAA domain

    2. NM_001256915.2 → NP_001243844.1  probable gluconokinase isoform 3

      See identical proteins and their annotated locations for NP_001243844.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 1. Variants 3 and 5 encode the same isoform (3).
      Source sequence(s)
      AY615889, BC036421, CB151823
      Consensus CDS
      CCDS59134.1
      Related
      ENSP00000403290.2, ENST00000454393.5
      Conserved Domains (1) summary
      cl17190
      Location:1 → 139
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    3. NM_001351535.2 → NP_001338464.1  probable gluconokinase isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 1. Variants 3 and 5 encode the same isoform (3).
      Source sequence(s)
      AY615889, BC036421, CB151823
      Consensus CDS
      CCDS59134.1
      Conserved Domains (1) summary
      cl17190
      Location:1 → 139
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    RNA

    1. NR_046421.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the predicted ORF is mostly in a different reading frame and it lacks sufficient support for protein representation.
      Source sequence(s)
      BC036421, CA866332

    2. NR_046422.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) includes an additional exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL354920, AY615889, BC036421
      Related
      ENST00000533522.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      83623006..83644123
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717110.4 → XP_006717173.2  probable gluconokinase isoform X1

    2. XM_006717111.5 → XP_006717174.1  probable gluconokinase isoform X2

      Conserved Domains (1) summary
      COG3265
      Location:18 → 186
      GntK; Gluconate kinase [Carbohydrate transport and metabolism]

    3. XM_047423403.1 → XP_047279359.1  probable gluconokinase isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      95772739..95793849
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362987.1 → XP_054218962.1  probable gluconokinase isoform X1

    2. XM_054362988.1 → XP_054218963.1  probable gluconokinase isoform X2

    3. XM_054362989.1 → XP_054218964.1  probable gluconokinase isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001190727.1: Suppressed sequence

      Description
      NM_001190727.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T6J7.1 GenPept UniProtKB/Swiss-Prot:Q5T6J7

    Gene LinkOut

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