STAMBPL1
STAM Binding Protein Like 1
Gene Information Card
| Symbol | STAMBPL1 |
|---|---|
| Full Name | STAM binding protein like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q23.31 |
| NCBI Gene ID | 57559 ncbi.nlm.nih.gov/gene/57559 |
| Ensembl ID | ENSG00000138134 |
| UniProt ID | Q96FJ2 |
| OMIM ID | 610532 |
| HGNC ID | 28799 |
| Aliases | AMSH-LP, AMSH2, bA399J9.1 |
Description
STAMBPL1 (STAM binding protein like 1) encodes a deubiquitinating enzyme that belongs to the JAMM/MPN+ metalloprotease family. It specifically cleaves lysine-63-linked polyubiquitin chains and is involved in endosomal trafficking, receptor sorting, and signal transduction. The protein localizes to the cytoplasm and endosomes, and interacts with STAM and other components of the ESCRT machinery.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression may promote tumor growth via altered receptor trafficking | COSMIC, ClinVar |
| Prostate cancer | Potential role in androgen receptor signaling | COSMIC |
| Colorectal cancer | Dysregulation of deubiquitinating activity linked to cell proliferation | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.7 | Low |
| Lung | 6.3 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.5 | Embryonic kidney |
| HeLa | 9.8 | Cervical carcinoma |
| MCF7 | 11.3 | Breast cancer |
| A549 | 7.2 | Lung cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.01% | Unknown functional impact |
| c.1246G>A (p.Glu416Lys) | Missense | 0.005% | Potential loss of catalytic activity |
| c.1570_1571insA (p.Thr524AsnfsTer2) | Frameshift | 0.002% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr524AsnfsTer2) are predicted to truncate the protein and abolish deubiquitinase activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No evidence for dominant-negative effects in current literature.
View complete mutation data：
Gene Ontology (GO)
| • metallopeptidase activity | • lysine63-linked deubiquitinase activity |
| • endosomal transport | • protein deubiquitination |
| • cytoplasm | • early endosome |
Pathways
• Endosomal sorting complex required for transport (ESCRT)
• Deubiquitination
Protein Summary
STAMBPL1 is a 436-amino-acid deubiquitinating enzyme with a JAMM/MPN+ domain. It specifically removes lysine-63-linked ubiquitin chains from proteins, regulating endosomal trafficking and receptor downregulation. The protein interacts with STAM and Hrs, and is involved in the sorting of ubiquitinated cargo at the early endosome. Its dysregulation has been implicated in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STAMBPL1 Knockout HEK293 Cell Line | EDJ-KQ12018 | Human | 57559 | Details Get a Quote |
| STAMBPL1 Knockout A-549 Cell Line | EDJ-KQ40616 | Human | 57559 | Details Get a Quote |
| STAMBPL1 Knockout HCT 116 Cell Line | EDJ-KQ40617 | Human | 57559 | Details Get a Quote |
| STAMBPL1 Knockout HeLa Cell Line | EDJ-KQ40618 | Human | 57559 | Details Get a Quote |
