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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
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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

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