STAMBP: STAM Binding Protein – Deubiquitinating Enzyme in Endosomal Sorting and Neurodevelopment
A comprehensive biomedical resource for STAMBP (STAM binding protein), covering gene structure, expression, mutations, associated diseases, and functional pathways.
Gene Information Card
| Symbol | STAMBP |
|---|---|
| Full Name | STAM binding protein |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.1 |
| NCBI Gene ID | 10617 ncbi.nlm.nih.gov/gene/10617 |
| Ensembl ID | ENSG00000115053 |
| UniProt ID | O95630 |
| OMIM ID | 606247 |
| HGNC ID | 16950 |
| Aliases | AMSH, STAMBP1, STAMBP-1, STAMBP-2 |
Description
STAMBP (STAM binding protein) encodes a deubiquitinating enzyme (DUB) that belongs to the JAMM/MPN+ metalloprotease family. It specifically cleaves lysine-63-linked polyubiquitin chains from proteins, playing a key role in endosomal sorting, receptor trafficking, and signal transduction. STAMBP interacts with STAM (signal transducing adaptor molecule) and is essential for the endocytic pathway. Loss-of-function mutations cause microcephaly-capillary malformation syndrome (MICCAP), a severe neurodevelopmental disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly-capillary malformation syndrome (MICCAP) | Loss-of-function mutations impair deubiquitinating activity, disrupting endosomal sorting and leading to abnormal neurodevelopment and vascular malformations. | ClinVar, OMIM |
| Neurodevelopmental disorder with microcephaly and seizures | Biallelic STAMBP variants cause progressive microcephaly, intractable epilepsy, and developmental delay. | ClinVar, OMIM |
| Cancer (potential role) | Altered STAMBP expression may affect receptor tyrosine kinase signaling and endocytosis, contributing to tumorigenesis. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 8.9 | Medium |
| Liver | 6.3 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 11.8 | Medium expression |
| SH-SY5Y | 13.0 | Medium-high expression |
| HepG2 | 9.4 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.860G>A (p.Arg287Gln) | Missense | Rare | Loss of deubiquitinase activity; associated with MICCAP |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein; pathogenic in MICCAP |
| c.1180C>T (p.Arg394*) | Nonsense | Rare | Premature truncation; loss of function |
| c.1303_1304del (p.Leu435Glufs*2) | Frameshift | Rare | Loss of function; reported in MICCAP |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (missense, nonsense, frameshift, start loss) in STAMBP cause microcephaly-capillary malformation syndrome (MICCAP) by impairing deubiquitinating activity and endosomal sorting.
Gain of Function (GOF)
No gain-of-function mutations have been reported for STAMBP.
Dominant Negative (DN)
No dominant-negative mutations have been described; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004843 – thiol-dependent deubiquitinase | • GO:0006511 – ubiquitin-dependent protein catabolic process |
| • GO:0006897 – endocytosis | • GO:0016579 – protein deubiquitination |
| • GO:0036459 – K63-linked polyubiquitin modification-dependent protein binding | • GO:0043162 – ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway |
| • GO:0005829 – cytosol | • GO:0005634 – nucleus |
Pathways
• Endosomal sorting complex required for transport (ESCRT) pathway
• Ubiquitin-mediated proteolysis (K63 deubiquitination)
• EGFR signaling and downregulation
Protein Summary
STAMBP (AMSH) is a 436-amino-acid deubiquitinating enzyme that specifically removes K63-linked ubiquitin chains from endosomal cargo proteins. It contains a JAMM/MPN+ metalloprotease domain and an SH3 domain that mediates interaction with STAM. STAMBP localizes to endosomes and is required for efficient sorting of ubiquitinated receptors (e.g., EGFR) into intraluminal vesicles. Loss of STAMBP function leads to accumulation of ubiquitinated proteins on endosomes, impaired receptor downregulation, and neurodevelopmental defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STAMBP Knockout HEK293 Cell Line | EDJ-KQ2722 | Human | 10617 | Details Get a Quote |
| STAMBPL1 Knockout HEK293 Cell Line | EDJ-KQ12018 | Human | 57559 | Details Get a Quote |
| STAMBP Knockout A-549 Cell Line | EDJ-KQ24965 | Human | 10617 | Details Get a Quote |
| STAMBP Knockout HCT 116 Cell Line | EDJ-KQ24967 | Human | 10617 | Details Get a Quote |
| STAMBP Knockout HeLa Cell Line | EDJ-KQ24968 | Human | 10617 | 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 |
| STAMBP Knockout HAP1 Cell Line | EDC08197 | Human | 10617 | Details Get a Quote |
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