USP6NL Gene - USP6 N-Terminal Like
A GTPase-activating protein involved in endocytic trafficking and cell signaling
Gene Information Card
| Symbol | USP6NL |
|---|---|
| Full Name | USP6 N-terminal like |
| Gene Type | protein-coding |
| Chromosomal Location | 10p14 |
| NCBI Gene ID | 9712 ncbi.nlm.nih.gov/gene/9712 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | Q92738 |
| OMIM ID | 607252 |
| HGNC ID | 12658 |
| Aliases | RN-tre, TRE2NL, USP6RL |
Description
USP6NL (USP6 N-terminal like) encodes a GTPase-activating protein (GAP) that specifically regulates Rab family small GTPases, particularly Rab5 and Rab31. The protein localizes to early endosomes and modulates endocytic trafficking, cell migration, and growth factor signaling. It is widely expressed in human tissues and has been implicated in cancer and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression of USP6NL may disrupt endocytic recycling of growth factor receptors, promoting oncogenic signaling. | COSMIC; literature (PMID: 23592262) |
| Intellectual disability | Rare copy number variants involving USP6NL have been reported in neurodevelopmental disorders. | ClinVar; literature (PMID: 25356899) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 14.2 | Medium |
| Testis | 20.1 | High |
| Thyroid | 9.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney cell line |
| HeLa | 11.2 | Cervical cancer cell line |
| A549 | 8.9 | Lung cancer cell line |
| MCF7 | 7.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.1% | Unknown functional impact; reported in COSMIC |
| c.567_568insA (p.Glu190Argfs*12) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of GAP activity, potentially impairing endocytic trafficking.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described for USP6NL.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Rab GTPase binding |
| • early endosome | • endocytosis |
| • regulation of cell migration | • intracellular protein transport |
Pathways
• Endocytosis (Reactome R-HSA-199991)
• Rab regulation of trafficking (Reactome R-HSA-8873719)
Protein Summary
USP6NL is a 962-amino acid protein containing a RhoGAP domain and a C-terminal coiled-coil region. It acts as a GTPase-activating protein for Rab5 and Rab31, promoting GTP hydrolysis and regulating early endosome dynamics. The protein is involved in clathrin-mediated endocytosis and influences cell adhesion and migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP6NL Knockout HEK293 Cell Line | EDJ-KQ6709 | Human | 9712 | Details Get a Quote |
| USP6NL Knockout A-549 Cell Line | EDJ-KQ31074 | Human | 9712 | Details Get a Quote |
| USP6NL Knockout HCT 116 Cell Line | EDJ-KQ31075 | Human | 9712 | Details Get a Quote |
| USP6NL Knockout HeLa Cell Line | EDJ-KQ31076 | Human | 9712 | Details Get a Quote |
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