TRIM17: Tripartite Motif Containing 17

A RING-type E3 ubiquitin ligase involved in apoptosis, autophagy, and neuronal development.

Gene Information Card

Symbol TRIM17
Full Name Tripartite Motif Containing 17
Gene Type Protein coding
Chromosomal Location 1q42.13
NCBI Gene ID 51127 ncbi.nlm.nih.gov/gene/51127
Ensembl ID ENSG00000162931
UniProt ID Q9Y577
OMIM ID 606560
HGNC ID 13430
Aliases RNF16, TERF

Description

TRIM17 (Tripartite Motif Containing 17) encodes a member of the tripartite motif (TRIM) family. The protein contains a RING finger domain, B-box type 1 and type 2, and a coiled-coil region. It functions as an E3 ubiquitin ligase and is implicated in the regulation of apoptosis, autophagy, and neuronal differentiation. TRIM17 is expressed in the brain and testis, and its dysregulation has been linked to neuroblastoma and other cancers.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Neuroblastoma TRIM17 overexpression may promote cell survival by inhibiting apoptosis and autophagy. COSMIC; PubMed studies
Testicular germ cell tumors Altered expression observed; potential role in spermatogenesis regulation. NCBI Gene; UniProt
Breast cancer Differential expression reported; mechanism unclear. COSMIC

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Cerebral cortex 8.2 Low
Cerebellum 6.7 Low
Heart 2.1 Not detected
Liver 1.3 Not detected
Cell Line Expression
Cell Line nTPM Notes
SH-SY5Y (neuroblastoma) 15.3 High expression; used in functional studies
HEK293 (embryonic kidney) 4.8 Moderate expression
HeLa (cervical carcinoma) 2.1 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.374C>T (p.Pro125Leu) Missense <0.01% Unknown; rare variant in population databases
c.682G>A (p.Glu228Lys) Missense <0.01% Unknown; reported in COSMIC
c.1003_1004insA (p.Thr335Asnfs*2) Frameshift Not reported Predicted loss of function
Mutation functional classification

Loss of Function (LOF)

Frameshift or nonsense mutations predicted to truncate the protein, disrupting RING domain and ubiquitin ligase activity.

Gain of Function (GOF)

Not well characterized; some missense variants may alter substrate specificity.

Dominant Negative (DN)

No evidence currently available.

Pathways

Ubiquitin mediated proteolysis (KEGG: hsa04120)
Autophagy - animal (KEGG: hsa04140)
Apoptosis (KEGG: hsa04210)

Protein Summary

TRIM17 is a 477-amino acid protein with a molecular weight of approximately 54 kDa. It contains a RING-type zinc finger domain (residues 16-54) essential for E3 ubiquitin ligase activity, two B-box domains (residues 93-136 and 167-210), and a coiled-coil region (residues 218-260). The protein localizes to the cytoplasm and nucleus. TRIM17 interacts with other TRIM family members and substrates to regulate protein degradation, apoptosis, and autophagy. Its expression is enriched in the brain and testis.

Related Products

Product name Cat.No. Species Gene ID
TRIM17 Knockout HEK293 Cell Line EDJ-KQ3275 Human 51127 Details Get a Quote
TRIM17 Knockout HeLa Cell Line EDJ-KQ56233 Human 51127 Details Get a Quote
TRIM17 Knockout A-549 Cell Line EDJ-KQ64723 Human 51127 Details Get a Quote
TRIM17 Knockout HCT 116 Cell Line EDJ-KQ73168 Human 51127 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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