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OGFOD3 2-oxoglutarate and iron dependent oxygenase domain containing 3 [ Homo sapiens (human) ]

Gene ID: 79701, updated on 5-Mar-2024

Summary

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Official Symbol
OGFOD3provided by HGNC
Official Full Name
2-oxoglutarate and iron dependent oxygenase domain containing 3provided by HGNC
Primary source
HGNC:HGNC:26174
See related
Ensembl:ENSG00000181396 AllianceGenome:HGNC:26174
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
C17orf101
Summary
Predicted to enable several functions, including L-ascorbic acid binding activity; dioxygenase activity; and iron ion binding activity. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 6.3), prostate (RPKM 5.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
17q25.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (82389210..82418586, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (83258229..83287516, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (80347086..80376462, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80334527-80335396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80337379-80337880 Neighboring gene urotensin 2 receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80337881-80338380 Neighboring gene uncharacterized LOC124904092 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80343201-80343886 Neighboring gene uncharacterized LOC124904090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80357274-80357880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9211 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80381859-80382694 Neighboring gene uncharacterized LOC124904091 Neighboring gene hexosaminidase D Neighboring gene HEXD intronic transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80396877-80397376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80397599-80398386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9213 Neighboring gene cytochrome b-245 chaperone 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
  • 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. High Throughput Chemical Screening Reveals Multiple Regulatory Proteins on FOXA1 in Breast Cancer Cell Lines. Wang S, et al. Int J Mol Sci, 2018 Dec 19. PMID 30572598, Free PMC Article
  2. A Single Adaptable Cochaperone-Scaffold Complex Delivers Nascent Iron-Sulfur Clusters to Mammalian Respiratory Chain Complexes I-III. Maio N, et al. Cell Metab, 2017 Apr 4. PMID 28380382
  3. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. Liu X, et al. Nat Commun, 2018 Mar 22. PMID 29568061, Free PMC Article
  4. Defining the membrane proteome of NK cells. Ghosh D, et al. J Mass Spectrom, 2010 Jan. PMID 19946888
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. Prunotto M, et al. J Proteomics, 2013 Apr 26. PMID 23376485

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

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

  • FLJ22222

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables L-ascorbic acid binding IEA
Inferred from Electronic Annotation
more info
  
enables dioxygenase activity IEA
Inferred from Electronic Annotation
more info
  
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in membrane HDA PubMed 

General protein information

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Preferred Names
2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3
Names
PKHD domain-containing transmembrane protein C17orf101

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_024648.3 → NP_078924.1  2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3 isoform 1

    See identical proteins and their annotated locations for NP_078924.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform (1).
    Source sequence(s)
    AC132938, AK025875
    Consensus CDS
    CCDS11811.1
    UniProtKB/Swiss-Prot
    C9JDC8, Q6PK18, Q8IZ37, Q9H6J2
    Related
    ENSP00000320116.5, ENST00000313056.10
    Conserved Domains (1) summary
    smart00702
    Location:162 → 305
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

  2. NM_175902.5 → NP_787098.3  2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate exon in the coding region, which results in a frameshift, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is longer than isoform 1.
    Source sequence(s)
    AC132938, AK311057, BC023602
    Consensus CDS
    CCDS11812.1
    UniProtKB/Swiss-Prot
    Q6PK18
    Related
    ENSP00000330075.5, ENST00000329197.9
    Conserved Domains (1) summary
    cl21496
    Location:162 → 275
    2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily

RNA

  1. NR_033265.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC132938, AK311057

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    82389210..82418586 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047436759.1 → XP_047292715.1  2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    C9JDC8, Q6PK18, Q8IZ37, Q9H6J2

RNA

  1. XR_007065458.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    83258229..83287516 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317230.1 → XP_054173205.1  2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    C9JDC8, Q6PK18, Q8IZ37, Q9H6J2

RNA

  1. XR_008484934.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6PK18.2 GenPept UniProtKB/Swiss-Prot:Q6PK18

Gene LinkOut

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