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RNF113A ring finger protein 113A [ Homo sapiens (human) ]

Gene ID: 7737, updated on 5-Mar-2024

Summary

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Official Symbol
RNF113Aprovided by HGNC
Official Full Name
ring finger protein 113Aprovided by HGNC
Primary source
HGNC:HGNC:12974
See related
Ensembl:ENSG00000125352 MIM:300951; AllianceGenome:HGNC:12974
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TTD5; Cwc24; RNF113; ZNF183
Summary
This intronless gene encodes a protein which contains a C3H1-type zinc finger domain and a C3HC4 Ring-type (Really Interesting New Gene-type) zinc finger domain. The Ring-type zinc finger domain is identified in various tumor suppressors, DNA repair genes and cytokine receptor-associated molecules, and is probably involved in mediating protein-protein interactions. [provided by RefSeq, May 2010]
Orthologs
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Genomic context

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See RNF113A in Genome Data Viewer
Location:
Xq24
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (119870475..119871733, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (118245597..118246855, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (119004438..119005696, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985694 Neighboring gene Sharpr-MPRA regulatory region 4463 Neighboring gene UPF3B regulator of nonsense mediated mRNA decay Neighboring gene UPF3B, regulator of nonsense mediated mRNA decay pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29902 Neighboring gene NADH:ubiquinone oxidoreductase subunit A1 Neighboring gene Sharpr-MPRA regulatory region 5043 Neighboring gene A-kinase anchoring protein 14 Neighboring gene NFKB activating protein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. Mendelsohn BA, et al. Am J Med Genet A, 2020 Mar. PMID 31880405, Free PMC Article
  2. Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder. Tessarech M, et al. Am J Med Genet A, 2020 Mar. PMID 31793730
  3. RNF113A promotes the proliferation, migration and invasion, and is associated with a poor prognosis of esophageal squamous cell carcinoma. Wang L, et al. Int J Oncol, 2018 Mar. PMID 29393393
  4. A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. Corbett MA, et al. J Med Genet, 2015 Apr. PMID 25612912
  5. RNF113A targeted by miR-197 promotes proliferation and inhibits autophagy via CXCR4/CXCL12/AKT/ERK/Beclin1 axis in cervical cancer. Zhang Q, et al. Exp Cell Res, 2023 Jul 1. PMID 37164050

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RNF113A targeted by miR-197 promotes proliferation and inhibits autophagy via CXCR4/CXCL12/AKT/ERK/Beclin1 axis in cervical cancer.
    Title: RNF113A targeted by miR-197 promotes proliferation and inhibits autophagy via CXCR4/CXCL12/AKT/ERK/Beclin1 axis in cervical cancer.
  2. SMYD3 Impedes Small Cell Lung Cancer Sensitivity to Alkylation Damage through RNF113A Methylation-Phosphorylation Cross-talk.
    Title: SMYD3 Impedes Small Cell Lung Cancer Sensitivity to Alkylation Damage through RNF113A Methylation-Phosphorylation Cross-talk.
  3. Ring Finger Protein 11 acts on ligand-activated EGFR via the direct interaction with the UIM region of ANKRD13 protein family.
    Title: Ring Finger Protein 11 acts on ligand-activated EGFR via the direct interaction with the UIM region of ANKRD13 protein family.
  4. A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
    Title: A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
  5. Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.
    Title: Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.
  6. RNF113A deficiency circumvents the resistance to Cisplatin and to BCL-2 inhibitors through the destabilization of MCL-1.
    Title: The X-linked trichothiodystrophy-causing gene RNF113A links the spliceosome to cell survival upon DNA damage.
  7. RNF113A promotes the proliferation, migration and invasiveness of esophageal squamous cell carcinoma (ESCC) cell lines. RNF113A expression in ESCC is associated with a poor prognosis of affected patients.
    Title: RNF113A promotes the proliferation, migration and invasion, and is associated with a poor prognosis of esophageal squamous cell carcinoma.
  8. A mutation that resulted in significant reduction of RNF113A protein was implicated in a non-photosensitive form of trichothiodystrophy. Lymphoblastoid cell lines from patients with the mutation in RNF113A had normal DNA damage responses on exposure to mitomycin C, diepoxybutane (DEB), bromodeoxyuridine (BrdU) and irradiation with ultraviolet light.
    Title: A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
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

Associated conditions

Description Tests
Trichothiodystrophy 5, nonphotosensitive
MedGen: C4225420 OMIM: 300953 GeneReviews: Not available
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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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin protein ligase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA repair IEA
Inferred from Electronic Annotation
more info
  
involved_in mRNA splicing, via spliceosome IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of chemokine-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in snoRNA splicing IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of U2-type precatalytic spliceosome IDA
Inferred from Direct Assay
more info
 PubMed 
part_of U2-type spliceosomal complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nuclear speck IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
E3 ubiquitin-protein ligase RNF113A
Names
cwc24 homolog
zinc finger protein 183 (RING finger, C3HC4 type)
NP_008909.1

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.

Genomic

  1. NG_021227.1 RefSeqGene

    Range
    5096..6354
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006978.3 → NP_008909.1  E3 ubiquitin-protein ligase RNF113A

    See identical proteins and their annotated locations for NP_008909.1

    Status: REVIEWED

    Source sequence(s)
    AC002477, AW001915, BC020556
    Consensus CDS
    CCDS14589.1
    UniProtKB/Swiss-Prot
    B2RBR7, O15541
    Related
    ENSP00000360497.2, ENST00000371442.4
    Conserved Domains (1) summary
    COG5152
    Location:30 → 322
    COG5152; Uncharacterized conserved protein, contains RING and CCCH-type Zn-fingers [General function prediction only]

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    119870475..119871733 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    118245597..118246855 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O15541.1 GenPept UniProtKB/Swiss-Prot:O15541

Gene LinkOut

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