USP17L24 Gene - Ubiquitin Specific Peptidase 17 Like Family Member 24

A member of the USP17 family of deubiquitinating enzymes, potentially involved in cell proliferation and immune response regulation.

Gene Information Card

Symbol USP17L24
Full Name ubiquitin specific peptidase 17 like family member 24
Gene Type protein-coding
Chromosomal Location 8p23.1
NCBI Gene ID 100287485 ncbi.nlm.nih.gov/gene/100287485
Ensembl ID ENSG00000215790
UniProt ID A0A0A0MRZ8
OMIM ID Not available
HGNC ID 44453
Aliases USP17L24

Description

USP17L24 is a protein-coding gene that belongs to the USP17 family of deubiquitinating enzymes. These enzymes remove ubiquitin from target proteins, thereby regulating protein stability, localization, and activity. USP17 family members are known to play roles in cell proliferation, apoptosis, and immune responses. The specific function of USP17L24 is not fully characterized, but it is predicted to have deubiquitinase activity. The gene is located on chromosome 8p23.1, a region associated with various cancers and immune-related disorders.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Not established No direct disease association has been reported for USP17L24 in major databases (OMIM, ClinVar, COSMIC). No evidence

Expression Profile

Tissue Expression
Tissue nTPM level
Testis Not available Low expression (based on EST data)
Lymph node Not available Low expression (based on EST data)
Bone marrow Not available Low expression (based on EST data)
Cell Line Expression
Cell Line nTPM Notes
HeLa Not available No data
K562 Not available No data
MCF7 Not available No data
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
No reported variants Not applicable Not applicable No mutations have been catalogued in ClinVar or COSMIC for USP17L24.
Mutation functional classification

Loss of Function (LOF)

No data available.

Gain of Function (GOF)

No data available.

Dominant Negative (DN)

No data available.

Gene Ontology (GO)

• cysteine-type peptidase activity • ubiquitin-specific protease activity
• proteolysis

Pathways

• Ubiquitin-mediated proteolysis (predicted)

Protein Summary

The USP17L24 protein is predicted to be a deubiquitinating enzyme, containing a peptidase C19 domain typical of ubiquitin-specific proteases. It likely cleaves ubiquitin from target proteins, influencing various cellular processes. However, experimental validation of its substrates and biological role is lacking.

Related Products

Product name Cat.No. Species Gene ID
USP17L24 Knockout HEK293 Cell Line EDJ-KQ16067 Human 728369 Details Get a Quote
USP17L24 Knockout A-549 Cell Line EDJ-KQ47178 Human 728369 Details Get a Quote
USP17L24 Knockout HCT 116 Cell Line EDJ-KQ47179 Human 728369 Details Get a Quote
USP17L24 Knockout HeLa Cell Line EDJ-KQ47180 Human 728369 Details Get a Quote
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