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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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RNF113A
ring finger protein 113A
Chromosome X Β· Xq24
NCBI Gene: 7737Ensembl: ENSG00000125352.6HGNC: HGNC:12974UniProt: O15541
54PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmprotein bindingU2-type precatalytic spliceosomeubiquitin protein ligase activitytrichothiodystrophyneurodegenerative diseaseAbnormal cerebral morphologymetabolic syndrome
✦AI Summary

RNF113A is an X-linked E3 ubiquitin ligase that serves dual critical functions in pre-mRNA splicing and DNA damage response. As a spliceosome component, RNF113A associates with U2, U4, and U6 snRNAs and interacts with PRP19 and BRR2 proteins, where it is essential for splicing efficiency 1. The protein catalyzes K63-linked polyubiquitination of targets including SNRNP200/BRR2 2. In DNA repair, RNF113A functions as a damage sensor that specifically responds to RNA alkylation rather than DNA alkylation 3. Upon alkylation damage, RNF113A synthesizes K63-linked polyubiquitin chains that recruit the ASCC-ALKBH3 repair complex to damaged sites, suppressing transcription and R-loop formation 23. Loss-of-function mutations in RNF113A cause X-linked trichothiodystrophy, characterized by CNS abnormalities and mental retardation 2. RNF113A deficiency impairs neural stem cell survival and differentiation by affecting p53, Nupr1, and Rad51 pathways 4. The protein also regulates CXCR4 degradation, influencing chemokine signaling 5. RNF113A shows oncogenic properties in esophageal squamous cell carcinoma and cervical cancer, promoting proliferation and invasion 65. Additionally, RNF113A has been associated with autism spectrum disorders 7.

Sources cited
1
RNF113A associates with U2, U4, U6 snRNAs and PRP19/BRR2 proteins, essential for splicing efficiency
PMID: 30506991
2
RNF113A catalyzes K63-linked polyubiquitination and recruits ASCC-ALKBH3 complex for alkylation damage repair; mutations cause X-linked trichothiodystrophy
PMID: 29144457
3
RNF113A responds specifically to RNA alkylation damage and suppresses transcription/R-loop formation
PMID: 34686315
4
RNF113A deficiency affects neural stem cell survival/differentiation via p53, Nupr1, and Rad51 pathways
PMID: 35429390
5
RNF113A regulates CXCR4 degradation and shows oncogenic properties in cervical cancer
PMID: 37164050
6
RNF113A promotes proliferation, migration and invasion in esophageal squamous cell carcinoma
PMID: 29393393
7
RNF113A is associated with autism spectrum disorders
PMID: 32081867
Disease Associationsβ“˜21
trichothiodystrophyOpen Targets
0.68Moderate
neurodegenerative diseaseOpen Targets
0.43Moderate
Abnormal cerebral morphologyOpen Targets
0.26Weak
metabolic syndromeOpen Targets
0.07Suggestive
small cell lung carcinomaOpen Targets
0.07Suggestive
lung cancerOpen Targets
0.04Suggestive
acute myeloid leukemiaOpen Targets
0.04Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
cervical cancerOpen Targets
0.02Suggestive
leukemiaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
cervicitisOpen Targets
0.01Suggestive
myeloid leukemiaOpen Targets
0.01Suggestive
Neurodevelopmental disorderOpen Targets
0.01Suggestive
lymph node metastatic carcinomaOpen Targets
0.00Suggestive
pachyonychia congenitaOpen Targets
0.00Suggestive
Trichothiodystrophy 5, non-photosensitiveUniProt
Pathogenic Variants5
NM_006978.3(RNF113A):c.901C>T (p.Gln301Ter)Likely pathogenic
Trichothiodystrophy 5, nonphotosensitive|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 301
NM_006978.3(RNF113A):c.890_891del (p.Tyr297fs)Likely pathogenic
Trichothiodystrophy 5, nonphotosensitive
β˜…β˜†β˜†β˜†2023β†’ Residue 297
NM_006978.3(RNF113A):c.836A>G (p.His279Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 279
NM_006978.3(RNF113A):c.897_898del (p.Cys299_Asp300delinsTer)Pathogenic
Trichothiodystrophy 5, nonphotosensitive
β˜†β˜†β˜†β˜†2020β†’ Residue 299
NM_006978.3(RNF113A):c.861del (p.Gln288fs)Likely pathogenic
Abnormal cerebral morphology
β˜†β˜†β˜†β˜†β†’ Residue 288
View on ClinVar β†—
Related Genes
DHX16Protein interaction100%BUD31Protein interaction100%XAB2Protein interaction100%SNRPA1Protein interaction100%PRPF19Protein interaction100%SNRPB2Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
67%
Lung
56%
Liver
54%
Heart
51%
Ovary
44%
Gene Interaction Network
Click a node to explore
RNF113ADHX16BUD31XAB2SNRPA1PRPF19SNRPB2
PROTEIN STRUCTURE
Preparing viewer…
PDB7DVQ Β· 2.89 Γ… Β· EM
View on RCSB β†—
RankingsWhere RNF113A stands among ~20K protein-coding genes
  • #8,366of 20,598
    Most Researched54
  • #3,575of 5,498
    Most Pathogenic Variants5
Genes detectedRNF113A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair.
PMID: 29144457
Nature Β· 2017
1.00
2
The Neurodevelopmental Disorders Associated Gene Rnf113a Regulates Survival and Differentiation Properties of Neural Stem Cells.
PMID: 35429390
Stem Cells Β· 2022
0.90
3
SMYD3 Impedes Small Cell Lung Cancer Sensitivity to Alkylation Damage through RNF113A Methylation-Phosphorylation Cross-talk.
PMID: 35819319
Cancer Discov Β· 2022
0.80
4
Aberrant RNA methylation triggers recruitment of an alkylation repair complex.
PMID: 34686315
Mol Cell Β· 2021
0.70
5
RNF113A targeted by miR-197 promotes proliferation and inhibits autophagy via CXCR4/CXCL12/AKT/ERK/Beclin1 axis in cervical cancer.
PMID: 37164050
Exp Cell Res Β· 2023
0.60