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    GFOD1 Gfo/Idh/MocA-like oxidoreductase domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 54438, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GFOD1provided by HGNC
    Official Full Name
    Gfo/Idh/MocA-like oxidoreductase domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:21096
    See related
    Ensembl:ENSG00000145990 MIM:619932; AllianceGenome:HGNC:21096
    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
    ADG-90; C6orf114
    Summary
    Predicted to enable nucleotide binding activity and oxidoreductase activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in brain (RPKM 7.3), fat (RPKM 5.7) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GFOD1 in Genome Data Viewer
    Location:
    6p24.1-p23
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (13357830..13487600, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (13231072..13361100, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (13358062..13487832, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901261 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:13328608-13329114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16927 Neighboring gene uncharacterized LOC105374936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24024 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16929 Neighboring gene MPRA-validated peak5665 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24025 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:13422205-13422994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24027 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24031 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:13461923-13462595 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:13462671-13463323 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:13463324-13463975 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:13466168-13467367 Neighboring gene Sharpr-MPRA regulatory region 12646 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:13479720-13480919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24032 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:13487020-13487183 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16930 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16931 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24034 Neighboring gene GFOD1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24035 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24036 Neighboring gene ribosomal protein S4X pseudogene 7 Neighboring gene RN7SK pseudogene 204

    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
    • 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. GFOD1 and peejar are promising markers for clear-cell renal cell carcinoma disease progression. Wu XR, et al. Oncotarget, 2016 Jun 21. PMID 27191742, Free PMC Article
    2. Potential biomarkers of acute myocardial infarction based on weighted gene co-expression network analysis. Liu Z, et al. Biomed Eng Online, 2019 Jan 25. PMID 30683112, Free PMC Article
    3. Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. Lasky-Su J, et al. Am J Med Genet B Neuropsychiatr Genet, 2008 Dec 5. PMID 18821565
    4. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. Couzens AL, et al. Sci Signal, 2013 Nov 19. PMID 24255178
    5. Tau interactome maps synaptic and mitochondrial processes associated with neurodegeneration. Tracy TE, et al. Cell, 2022 Feb 17. PMID 35063084, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. three overlapping genes (FGFBP2, GFOD1 and MLC1) between two modules could potentially have a role in acute myocardial infarction and have diagnostic potential
      Title: Potential biomarkers of acute myocardial infarction based on weighted gene co-expression network analysis.
    2. Authors found the expression of peejar was positively correlated with the expression of GFOD1 in ccRCC tissue, with Pearson correlation coefficiency reaching 0.939 (p < 0.001). GFOD1 and peejar were novel genes correlated with ccRCC disease progression and patients' poor prognosis.
      Title: GFOD1 and peejar are promising markers for clear-cell renal cell carcinoma disease progression.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20330, FLJ30569, FLJ45648, MGC70653, DKFZp547P158

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    glucose-fructose oxidoreductase domain-containing protein 1
    Names
    glucose-fructose oxidoreductase domain containing 1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001242628.2 → NP_001229557.1  glucose-fructose oxidoreductase domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001229557.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' exon, resulting in a downstream AUG start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AF264036, AL589984, AW137218, BC124557
      Consensus CDS
      CCDS56397.1
      UniProtKB/Swiss-Prot
      Q9NXC2
      Related
      ENSP00000479493.1, ENST00000612338.4
      Conserved Domains (1) summary
      cl40708
      Location:19 → 260
      MviM; Predicted dehydrogenase [General function prediction only]

    2. NM_001242629.2 → NP_001229558.1  glucose-fructose oxidoreductase domain-containing protein 1 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001229558.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has an alternate 3' exon, compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL583828
      Consensus CDS
      CCDS64351.1
      UniProtKB/TrEMBL
      S4R302
      Related
      ENSP00000473812.1, ENST00000603223.1
      Conserved Domains (1) summary
      cl21454
      Location:5 → 87
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    3. NM_001242630.2 → NP_001229559.1  glucose-fructose oxidoreductase domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001229559.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate 5' exon, resulting in a downstream AUG start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK027010, AL589984, AW137218
      Consensus CDS
      CCDS56397.1
      UniProtKB/Swiss-Prot
      Q9NXC2
      Related
      ENSP00000368586.1, ENST00000379284.1
      Conserved Domains (1) summary
      cl40708
      Location:19 → 260
      MviM; Predicted dehydrogenase [General function prediction only]

    4. NM_018988.4 → NP_061861.1  glucose-fructose oxidoreductase domain-containing protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_061861.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL583828, AL589984
      Consensus CDS
      CCDS4524.1
      UniProtKB/Swiss-Prot
      A8E4L6, Q5T058, Q96JD4, Q9H5K2, Q9NXC2
      Related
      ENSP00000368589.3, ENST00000379287.4
      Conserved Domains (1) summary
      COG0673
      Location:5 → 363
      MviM; Predicted dehydrogenase [General function prediction only]

    RNA

    1. NR_038459.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) is supported by mRNAs and ESTs, but none of the open reading frame is supported, so this variant is thought to be a non-coding transcript. The transcript shares the 3' exon with variant 4 and does not share any exon with variant 1.
      Source sequence(s)
      AL583828, BC066553, BP283322
      Related
      ENST00000605067.1

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      13357830..13487600 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      13231072..13361100 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_033069.2: Suppressed sequence

      Description
      NM_033069.2: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NXC2.1 GenPept UniProtKB/Swiss-Prot:Q9NXC2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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