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

Gene ID: 54438, updated on 7-Apr-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, Apr 2022]
Expression
Broad expression in brain (RPKM 7.3), fat (RPKM 5.7) and 21 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (13357830..13487600, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (13231072..13361100, complement)
105.20220307 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. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995

See all (25) 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)

Genotypes

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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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_2023_10

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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