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    OGFOD1 2-oxoglutarate and iron dependent oxygenase domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 55239, updated on 5-Mar-2024

    Summary

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    Official Symbol
    OGFOD1provided by HGNC
    Official Full Name
    2-oxoglutarate and iron dependent oxygenase domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25585
    See related
    Ensembl:ENSG00000087263 MIM:615857; AllianceGenome:HGNC:25585
    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
    TPA1
    Summary
    Enables peptidyl-proline 3-dioxygenase activity. Involved in several processes, including peptidyl-proline hydroxylation; regulation of translational termination; and stress granule assembly. Located in cytoplasmic stress granule; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal (RPKM 10.6), esophagus (RPKM 9.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    16q13
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (56451524..56479104)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (62246598..62274175)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (56485436..56513016)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr16:56396251-56396424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:56396447-56396947 Neighboring gene autocrine motility factor receptor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7507 Neighboring gene nudix hydrolase 21 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7508 Neighboring gene Bardet-Biedl syndrome 2 Neighboring gene Sharpr-MPRA regulatory region 6357 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10851 Neighboring gene uncharacterized LOC105371283 Neighboring gene metallothionein 4

    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. The ribosomal prolyl-hydroxylase OGFOD1 decreases during cardiac differentiation and modulates translation and splicing. Stoehr A, et al. JCI Insight, 2019 May 21. PMID 31112528, Free PMC Article
    2. OGFOD1 is required for breast cancer cell proliferation and is associated with poor prognosis in breast cancer. Kim JH, et al. Oncotarget, 2015 Aug 14. PMID 25909288, Free PMC Article
    3. OGFOD1 modulates the transcriptional and proteomic landscapes to alter isoproterenol-induced hypertrophy susceptibility. Rodriguez R, et al. J Mol Cell Cardiol, 2023 Jun. PMID 37084634,
    4. OGFOD1 negatively regulated by miR-1224-5p promotes proliferation in human papillomavirus-infected laryngeal papillomas. Yin D, et al. Mol Genet Genomics, 2020 May. PMID 32002629
    5. OGFOD1, a member of the 2-oxoglutarate and iron dependent dioxygenase family, functions in ischemic signaling. Saito K, et al. FEBS Lett, 2010 Aug 4. PMID 20579638

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. OGFOD1 modulates the transcriptional and proteomic landscapes to alter isoproterenol-induced hypertrophy susceptibility.
      Title: OGFOD1 modulates the transcriptional and proteomic landscapes to alter isoproterenol-induced hypertrophy susceptibility.
    2. The ribosomal prolyl-hydroxylase OGFOD1 decreases during cardiac differentiation and modulates translation and splicing.
      Title: The ribosomal prolyl-hydroxylase OGFOD1 decreases during cardiac differentiation and modulates translation and splicing.
    3. High OGFOD1 expression is associated with papillomavirus-infected laryngeal papillomas.
      Title: OGFOD1 negatively regulated by miR-1224-5p promotes proliferation in human papillomavirus-infected laryngeal papillomas.
    4. Propose that OGFOD1 is required for breast cancer cell proliferation and is associated with poor prognosis in breast cancer.
      Title: OGFOD1 is required for breast cancer cell proliferation and is associated with poor prognosis in breast cancer.
    5. OGFOD1 catalyzes prolyl hydroxylation of RPS23 and is involved in translation control and stress granule formation.
      Title: OGFOD1 catalyzes prolyl hydroxylation of RPS23 and is involved in translation control and stress granule formation.
    6. OGFOD1 plays an important role in ischemic cell survival and an OGFOD1 iron binding residue is required for ATPAF1 gene expression.
      Title: OGFOD1, a member of the 2-oxoglutarate and iron dependent dioxygenase family, functions in ischemic signaling.
    7. Data suggest that OGFOD1 plays important proapoptotic roles in the regulation of translation and HRI-mediated phosphorylation of eIF2alpha in cells subjected to arsenite-induced stress.
      Title: OGFOD1, a novel modulator of eukaryotic translation initiation factor 2alpha phosphorylation and the cellular response to stress.
    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

    • FLJ10826, KIAA1612

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-ascorbic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables peptidyl-proline 3-dioxygenase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables peptidyl-proline 3-dioxygenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables peptidyl-proline dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peptidyl-proline dioxygenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in peptidyl-proline hydroxylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in peptidyl-proline hydroxylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein hydroxylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of translational termination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of translational termination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in stress granule assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic stress granule IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    prolyl 3-hydroxylase OGFOD1
    Names
    2-oxoglutarate and iron-dependent oxygenase domain-containing protein 1
    TPA1, termination and polyadenylation 1, homolog
    termination and polyadenylation 1 homolog
    uS12 prolyl 3-hydroxylase
    NP_001311286.1
    NP_001311287.1
    NP_001311288.1
    NP_001311289.1
    NP_001311290.1
    NP_001311291.1
    NP_001311292.1
    NP_060703.3

    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_001324357.2 → NP_001311286.1  prolyl 3-hydroxylase OGFOD1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC092140
      UniProtKB/TrEMBL
      A0A0A0MTR2

    2. NM_001324358.2 → NP_001311287.1  prolyl 3-hydroxylase OGFOD1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC092140
      UniProtKB/TrEMBL
      A0A0A0MTR2

    3. NM_001324359.1 → NP_001311288.1  prolyl 3-hydroxylase OGFOD1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC092140
      UniProtKB/TrEMBL
      B4E360

    4. NM_001324360.2 → NP_001311289.1  prolyl 3-hydroxylase OGFOD1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC092140
      UniProtKB/TrEMBL
      B4E360

    5. NM_001324361.1 → NP_001311290.1  prolyl 3-hydroxylase OGFOD1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC092140
      UniProtKB/TrEMBL
      A0A0A0MTR2

    6. NM_001324362.1 → NP_001311291.1  prolyl 3-hydroxylase OGFOD1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC092140
      UniProtKB/TrEMBL
      B4E360
      Conserved Domains (1) summary
      cl21496
      Location:122 → 398
      2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily

    7. NM_001324363.2 → NP_001311292.1  prolyl 3-hydroxylase OGFOD1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC092140
      UniProtKB/TrEMBL
      A0A0A0MTR2

    8. NM_018233.4 → NP_060703.3  prolyl 3-hydroxylase OGFOD1 isoform 1

      See identical proteins and their annotated locations for NP_060703.3

      Status: VALIDATED

      Source sequence(s)
      AC092140, BC032919
      Consensus CDS
      CCDS10761.2
      UniProtKB/Swiss-Prot
      H3BUQ2, Q8N543, Q9H7U5, Q9H9J9, Q9HA87, Q9HCG0, Q9NVB6
      UniProtKB/TrEMBL
      A0A0A0MTR2
      Related
      ENSP00000457258.1, ENST00000566157.6
      Conserved Domains (2) summary
      smart00702
      Location:72 → 238
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      cl21496
      Location:262 → 538
      2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      56451524..56479104
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      62246598..62274175
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N543.1 GenPept UniProtKB/Swiss-Prot:Q8N543

    Gene LinkOut

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

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