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    R3HDM4 R3H domain containing 4 [ Homo sapiens (human) ]

    Gene ID: 91300, updated on 3-Apr-2024

    Summary

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    Official Symbol
    R3HDM4provided by HGNC
    Official Full Name
    R3H domain containing 4provided by HGNC
    Primary source
    HGNC:HGNC:28270
    See related
    Ensembl:ENSG00000198858 AllianceGenome:HGNC:28270
    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
    C19orf22
    Summary
    Predicted to enable nucleic acid binding activity. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bone marrow (RPKM 39.3), appendix (RPKM 29.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19p13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (896503..913219, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (859232..875957, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (896503..913219, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:871223-871802 Neighboring gene mediator complex subunit 16 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:885344-885844 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:885845-886345 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9625 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13573 Neighboring gene MPRA-validated peak3217 silencer Neighboring gene RNA, U6 small nuclear 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:904059-904817 Neighboring gene Sharpr-MPRA regulatory region 9324 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9629 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9630 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:918907-919847 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:919848-920787 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9636 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:926209-926969 Neighboring gene KISS1 receptor Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:932426-932957 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:932958-933488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:934552-935082 Neighboring gene AT-rich interaction domain 3A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9640 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:947299-947798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13576 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:952365-953066 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:953067-953768 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:953750-953958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:955173-955874 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:956577-957278 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:957654-957846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:962809-963327 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:965021-965198

    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. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? Nathan JA, et al. EMBO J, 2013 Feb 20. PMID 23314748, Free PMC Article
    2. Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. Antoniali G, et al. Nat Commun, 2017 Oct 6. PMID 28986522, Free PMC Article
    3. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
    4. TRABID targets DDB2 for deubiquitination to promote proliferation of hepatocellular carcinoma cells. Chen Y, et al. Biochem Biophys Res Commun, 2022 Oct 15. PMID 35944360
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

    See all (6) 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

    • MGC16353

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    R3H domain-containing protein 4
    Names
    R3H domain-containing protein C19orf22

    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_138774.4 → NP_620129.2  R3H domain-containing protein 4

      See identical proteins and their annotated locations for NP_620129.2

      Status: VALIDATED

      Source sequence(s)
      AC005379, BC012775
      Consensus CDS
      CCDS12048.1
      UniProtKB/Swiss-Prot
      Q96D70
      UniProtKB/TrEMBL
      K7EIG9
      Related
      ENSP00000355385.4, ENST00000361574.10
      Conserved Domains (2) summary
      pfam01424
      Location:188 → 247
      R3H; R3H domain
      pfam13902
      Location:53 → 182
      R3H-assoc; R3H-associated N-terminal domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      896503..913219 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439659.1 → XP_047295615.1  R3H domain-containing protein 4 isoform X2

    2. XM_024451771.2 → XP_024307539.1  R3H domain-containing protein 4 isoform X2

      Conserved Domains (2) summary
      pfam01424
      Location:66 → 125
      R3H; R3H domain
      pfam13902
      Location:1 → 60
      R3H-assoc; R3H-associated N-terminal domain

    3. XM_011528416.3 → XP_011526718.1  R3H domain-containing protein 4 isoform X1

      UniProtKB/TrEMBL
      K7EIG9
      Conserved Domains (2) summary
      pfam01424
      Location:188 → 235
      R3H; R3H domain
      pfam13902
      Location:53 → 182
      R3H-assoc; R3H-associated N-terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      859232..875957 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322567.1 → XP_054178542.1  R3H domain-containing protein 4 isoform X2

    2. XM_054322566.1 → XP_054178541.1  R3H domain-containing protein 4 isoform X2

    3. XM_054322565.1 → XP_054178540.1  R3H domain-containing protein 4 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96D70.3 GenPept UniProtKB/Swiss-Prot:Q96D70

    Gene LinkOut

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

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