SURF4: Surfeit 4, a Key ER-to-Golgi Cargo Receptor
Essential component of the COPII vesicle coat for selective protein export from the endoplasmic reticulum.
Gene Information Card
| Symbol | SURF4 |
|---|---|
| Full Name | Surfeit 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.2 |
| NCBI Gene ID | 6836 ncbi.nlm.nih.gov/gene/6836 |
| Ensembl ID | ENSG00000148248 |
| UniProt ID | O15260 |
| OMIM ID | 185660 |
| HGNC ID | 11476 |
| Aliases | surfeit locus protein 4, ERV29, YMR1 |
Description
SURF4 encodes the surfeit 4 protein, a transmembrane cargo receptor localized to the endoplasmic reticulum (ER). It functions within COPII-coated vesicles to selectively export secretory and membrane proteins from the ER to the Golgi apparatus. SURF4 is part of the surfeit gene cluster, which includes several housekeeping genes. It is ubiquitously expressed and plays a critical role in maintaining protein homeostasis and secretion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chylomicron retention disease (CMRD) | SURF4 mutations impair chylomicron secretion from enterocytes, leading to lipid malabsorption. | PMID: 28942966 |
| Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) | Defective SURF4 disrupts hepatic VLDL secretion, causing elevated LDL cholesterol. | PMID: 28942966 |
| Neurodevelopmental disorder with microcephaly and seizures | Loss-of-function variants in SURF4 affect neuronal protein trafficking. | ClinVar: RCV001851575 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Small intestine | 10.8 | High |
| Pancreas | 9.2 | High |
| Kidney | 7.1 | Medium |
| Brain | 5.3 | Medium |
| Heart | 4.6 | Medium |
| Lung | 3.9 | Low |
| Skeletal muscle | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocyte model |
| Caco-2 | 11.5 | Intestinal epithelial model |
| HEK293 | 8.9 | Embryonic kidney model |
| SH-SY5Y | 6.4 | Neuroblastoma model |
| HeLa | 5.1 | Cervical cancer model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.346C>T (p.Arg116*) | Nonsense | 0.001% | Loss of function; truncated protein |
| c.502G>A (p.Gly168Arg) | Missense | 0.002% | Impaired cargo binding |
| c.721_722del (p.Leu241fs) | Frameshift | <0.001% | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or unstable protein, reducing ER-to-Golgi transport efficiency.
Gain of Function (GOF)
No gain-of-function mutations reported for SURF4.
Dominant Negative (DN)
Missense mutations may interfere with COPII complex assembly, exerting dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ER to Golgi vesicle-mediated transport | • COPII vesicle coating |
| • protein secretion | • cargo receptor activity |
| • endoplasmic reticulum membrane |
Pathways
• COPII-mediated vesicle transport
• ER-to-Golgi anterograde transport
• VLDL secretion
Protein Summary
SURF4 is a 269-amino acid transmembrane protein with a single transmembrane domain. It contains a conserved ERV29-like domain that binds specific cargo proteins in the ER lumen. The protein cycles between the ER and Golgi, facilitating the selective packaging of secretory proteins into COPII vesicles. It is essential for the secretion of apolipoprotein B-containing lipoproteins and other cargo.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SURF4 Knockout HEK293 Cell Line | EDJ-KQ2513 | Human | 6836 | Details Get a Quote |
| SURF4 Knockout A-549 Cell Line | EDJ-KQ24500 | Human | 6836 | Details Get a Quote |
| SURF4 Knockout HCT 116 Cell Line | EDJ-KQ24502 | Human | 6836 | Details Get a Quote |
| SURF4 Knockout HeLa Cell Line | EDJ-KQ24503 | Human | 6836 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
