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

Gene ID: 91300, updated on 23-Nov-2021

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
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
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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See R3HDM4 in Genome Data Viewer
Location:
19p13.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (896503..913219, complement)
105.20201022 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 mediator complex subunit 16 Neighboring gene RNA, U6 small nuclear 9 Neighboring gene Sharpr-MPRA regulatory region 9324 Neighboring gene KISS1 receptor Neighboring gene AT-rich interaction domain 3A

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. 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
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

See citations in PubMed for homologs of this gene provided by HomoloGene

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
    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: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024451772.1 → XP_024307540.1  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

  2. XM_024451771.1 → 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_011528416.2 → XP_011526718.1  R3H domain-containing protein 4 isoform X1

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