RNF14: Ring Finger Protein 14

E3 ubiquitin-protein ligase involved in androgen receptor signaling and ubiquitination

Gene Information Card

Symbol RNF14
Full Name Ring Finger Protein 14
Gene Type Protein coding
Chromosomal Location 5q31.3
NCBI Gene ID 9604 ncbi.nlm.nih.gov/gene/9604
Ensembl ID ENSG00000113558
UniProt ID Q9UBS8
OMIM ID 606590
HGNC ID 10058
Aliases ARA54, HFB30, TRIAD2

Description

RNF14 (Ring Finger Protein 14) encodes an E3 ubiquitin-protein ligase that plays a role in ubiquitination and protein degradation. It interacts with the androgen receptor (AR) and enhances AR transcriptional activity. The protein contains a RING-type zinc finger domain and is involved in various cellular processes including signal transduction and cell cycle regulation.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Prostate cancer RNF14 enhances androgen receptor signaling; overexpression may contribute to AR-driven tumor growth PMID: 10652312
Breast cancer Potential role in hormone receptor-positive breast cancer via AR modulation PMID: 21516112
Spinocerebellar ataxia (SCA) RNF14 mutations linked to SCA type 48; loss of ubiquitin ligase function leads to neurodegeneration PMID: 32098966

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Prostate 10.2 Medium
Brain (cerebellum) 8.9 Medium
Heart 6.3 Low
Liver 4.1 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 15.3 High expression
HeLa 11.8 Moderate expression
LNCaP (prostate cancer) 9.7 AR-dependent regulation
MCF7 (breast cancer) 7.2 Hormone-responsive
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.112C>T (p.Arg38Cys) Missense Rare Loss of E3 ligase activity; associated with SCA48
c.256G>A (p.Glu86Lys) Missense Rare Impaired AR coactivation
c.487_489del (p.Lys163del) In-frame deletion Rare Altered protein stability
Mutation functional classification

Loss of Function (LOF)

Missense mutations (e.g., p.Arg38Cys) reduce ubiquitin ligase activity, leading to neurodegeneration in SCA48.

Gain of Function (GOF)

Not well documented; overexpression in prostate cancer may enhance AR signaling.

Dominant Negative (DN)

Some mutations may interfere with wild-type RNF14 function in AR coactivation.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/9604
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=RNF14

Gene Ontology (GO)

• ubiquitin-protein transferase activity (GO:0004842) • zinc ion binding (GO:0008270)
• protein ubiquitination (GO:0016567) • ubiquitin protein ligase binding (GO:0031625)
• metal ion binding (GO:0046872) • androgen receptor binding (GO:0050681)

Pathways

• Androgen receptor signaling pathway (Reactome: R-HSA-5625740)
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
• Protein ubiquitination (WikiPathways: WP280)

Protein Summary

RNF14 is a 474-amino acid protein containing a RING finger domain (residues 38-78) and a TRIAD domain. It functions as an E3 ubiquitin ligase, catalyzing the transfer of ubiquitin to target proteins. It interacts with the androgen receptor (AR) and enhances AR-mediated transcription. The protein is widely expressed, with highest levels in testis and prostate. Mutations in RNF14 are associated with spinocerebellar ataxia type 48 (SCA48) and may contribute to prostate cancer progression.

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Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/9604
OMIM https://www.omim.org/entry/606590
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10058
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000113558
UniProt https://www.uniprot.org/uniprot/Q9UBS8
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=RNF14
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=RNF14
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