RNF133: Ring Finger Protein 133

A ubiquitin ligase with potential roles in spermatogenesis and cancer

Gene Information Card

Symbol RNF133
Full Name ring finger protein 133
Gene Type protein-coding
Chromosomal Location 7q31.31
NCBI Gene ID 168433 ncbi.nlm.nih.gov/gene/168433
Ensembl ID ENSG00000185499
UniProt ID Q8WZ73
OMIM ID 618840
HGNC ID 21152
Aliases FLJ23356, MGC138290

Description

RNF133 (ring finger protein 133) is a protein-coding gene that encodes a member of the RING finger protein family. The protein contains a RING-type zinc finger domain characteristic of E3 ubiquitin ligases, suggesting a role in ubiquitination and protein degradation. RNF133 is predominantly expressed in testis and is implicated in spermatogenesis. Altered expression has been observed in certain cancers, though functional characterization remains limited.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Spermatogenic failure Potential role in ubiquitin-mediated protein degradation during spermatogenesis; reduced expression may impair sperm maturation Limited; expression studies in testis (NCBI, UniProt)
Prostate cancer Overexpression observed in prostate cancer tissues; may contribute to tumor progression via ubiquitin pathway Expression profiling (COSMIC, NCBI)
Colorectal cancer Differential expression reported; possible involvement in cell cycle regulation Expression data (COSMIC)

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 28.5 High
Prostate 4.2 Low
Colon 2.1 Low
Kidney 1.8 Low
Liver 0.9 Not detected
Cell Line Expression
Cell Line nTPM Notes
HEK293 3.5 Embryonic kidney; moderate expression
HeLa 1.2 Cervical carcinoma; low expression
LNCaP 6.8 Prostate cancer; elevated expression
HCT116 2.0 Colorectal carcinoma; low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G missense <0.01% Unknown; predicted benign (ClinVar)
c.100C>T missense <0.01% Unknown; no clinical significance reported (ClinVar)
c.200_201insA frameshift <0.01% Predicted loss of function (COSMIC)
Mutation functional classification

Loss of Function (LOF)

Frameshift mutations (e.g., c.200_201insA) are predicted to truncate the protein, likely abolishing E3 ubiquitin ligase activity.

Gain of Function (GOF)

No gain-of-function mutations have been reported for RNF133.

Dominant Negative (DN)

No dominant-negative mutations have been characterized for RNF133.

Pathways

Ubiquitin mediated proteolysis (KEGG: hsa04120)
Protein processing in endoplasmic reticulum (KEGG: hsa04141)

Protein Summary

RNF133 encodes a 305-amino acid protein with a RING finger domain at the N-terminus (residues 24-66), characteristic of E3 ubiquitin ligases. The protein is predicted to localize to the nucleus and cytoplasm. It is highly expressed in testis, suggesting a specialized role in spermatogenesis. Structural analysis indicates the RING domain coordinates two zinc ions, essential for ubiquitin transfer activity. Limited functional studies suggest involvement in protein turnover and cellular signaling.

Related Products

Product name Cat.No. Species Gene ID
RNF133 Knockout HEK293 Cell Line EDJ-KQ15100 Human 168433 Details Get a Quote
RNF133 Knockout HeLa Cell Line EDJ-KQ58915 Human 168433 Details Get a Quote
RNF133 Knockout A-549 Cell Line EDJ-KQ67403 Human 168433 Details Get a Quote
RNF133 Knockout HCT 116 Cell Line EDJ-KQ75797 Human 168433 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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