AMFR (Autocrine Motility Factor Receptor)
E3 ubiquitin-protein ligase AMFR, also known as gp78, involved in endoplasmic reticulum-associated degradation (ERAD) and cancer cell motility.
Gene Information Card
| Symbol | AMFR |
|---|---|
| Full Name | Autocrine Motility Factor Receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 16q21 |
| NCBI Gene ID | 267 ncbi.nlm.nih.gov/gene/267 |
| Ensembl ID | ENSG00000159461 |
| UniProt ID | Q9UKV5 |
| OMIM ID | 603243 |
| HGNC ID | 463 |
| Aliases | gp78, RNF45, AMF receptor |
Description
The AMFR gene encodes the autocrine motility factor receptor (AMFR), a transmembrane E3 ubiquitin-protein ligase also known as gp78. It is a key component of the endoplasmic reticulum-associated degradation (ERAD) pathway, targeting misfolded proteins for proteasomal degradation. AMFR also mediates cell motility and invasion in response to autocrine motility factor (AMF) and is implicated in cancer metastasis and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | AMFR overexpression promotes tumor cell motility, invasion, and metastasis via AMF signaling and ERAD dysregulation. | NCBI Gene, COSMIC, PubMed |
| Alzheimer's disease | AMFR-mediated ubiquitination of amyloid precursor protein (APP) may influence APP processing and Aβ accumulation. | UniProt, PubMed |
| Amyotrophic lateral sclerosis (ALS) | AMFR interacts with VCP/p97 and may contribute to protein aggregation pathology. | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical cancer cell line |
| A549 | 14.2 | Lung carcinoma cell line |
| MCF7 | 16.8 | Breast cancer cell line |
| HEK293 | 12.0 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.1% | Unknown; reported in COSMIC |
| c.1456C>T (p.Arg486Trp) | Missense | <0.1% | Unknown; reported in COSMIC |
| c.1678_1680del (p.Lys560del) | In-frame deletion | <0.1% | Unknown; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in AMFR impair ERAD, leading to accumulation of misfolded proteins and ER stress.
Gain of Function (GOF)
Gain-of-function mutations or overexpression enhance cell motility and invasion, contributing to cancer metastasis.
Dominant Negative (DN)
Dominant-negative variants may disrupt AMFR interactions with VCP/p97 or ubiquitin, blocking ERAD.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004842 - ubiquitin-protein transferase activity | • GO:0005515 - protein binding |
| • GO:0005783 - endoplasmic reticulum | • GO:0006511 - ubiquitin-dependent protein catabolic process |
| • GO:0016021 - integral component of membrane | • GO:0030433 - ER-associated ubiquitin-dependent protein catabolic process |
| • GO:0043123 - positive regulation of I-kappaB kinase/NF-kappaB signaling |
Pathways
• Endoplasmic reticulum-associated degradation (ERAD) pathway
• Ubiquitin-proteasome pathway
• VCP/p97-mediated degradation
• Autocrine motility factor signaling
Protein Summary
AMFR (gp78) is a 643-amino acid transmembrane E3 ubiquitin ligase localized to the endoplasmic reticulum. It contains a RING finger domain, a CUE domain for ubiquitin binding, and a VCP/p97-interacting region. AMFR ubiquitinates misfolded ER proteins, targeting them for proteasomal degradation. It also acts as a receptor for autocrine motility factor (AMF), stimulating cell migration and invasion. Overexpression is linked to poor prognosis in various cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMFR Knockout HEK293 Cell Line | EDJ-KQ3031 | Human | 267 | Details Get a Quote |
| AMFR Knockout A-549 Cell Line | EDJ-KQ24257 | Human | 267 | Details Get a Quote |
| AMFR Knockout HCT 116 Cell Line | EDJ-KQ24258 | Human | 267 | Details Get a Quote |
| AMFR Knockout HeLa Cell Line | EDJ-KQ24259 | Human | 267 | Details Get a Quote |
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