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

    Gene ID: 79701, updated on 10-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 6.3), prostate (RPKM 5.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See OGFOD3 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (82389210..82418586, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (83258229..83287516, complement)
    RS_2024_09 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. ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1. Simonetti B, et al. Proc Natl Acad Sci U S A, 2022 Jun 21. PMID 35696571, Free PMC Article
    4. In-Depth In Vivo Crosslinking in Minutes by a Compact, Membrane-Permeable, and Alkynyl-Enrichable Crosslinker. Gao H, et al. Anal Chem, 2022 May 31. PMID 35575683
    5. USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle. Song N, et al. Mol Carcinog, 2023 Oct. PMID 37314216

    See all (13) 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)

    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_2024_08

    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

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

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