SNX1 (Sorting Nexin 1)
A key regulator of endosomal sorting and receptor trafficking
Gene Information Card
| Symbol | SNX1 |
|---|---|
| Full Name | Sorting Nexin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 6642 ncbi.nlm.nih.gov/gene/6642 |
| Ensembl ID | ENSG00000104081 |
| UniProt ID | Q13596 |
| OMIM ID | 601272 |
| HGNC ID | 11172 |
| Aliases | SNX1A, SNX1B, VPS5 |
Description
SNX1 encodes sorting nexin 1, a member of the sorting nexin family involved in intracellular trafficking. It contains a Phox (PX) domain that binds phosphoinositides and a BAR domain that senses membrane curvature. SNX1 functions in endosomal sorting, retromer complex assembly, and regulation of receptor recycling and degradation, including EGFR and other signaling receptors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered SNX1 expression may disrupt EGFR trafficking, promoting oncogenic signaling. | NCBI Gene, COSMIC |
| Neurodegenerative disorders | Impaired endosomal sorting linked to SNX1 dysfunction affects neuronal receptor trafficking. | UniProt, OMIM |
| Infectious diseases | SNX1 is hijacked by certain pathogens (e.g., viruses) to modulate endosomal pathways. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 10.2 | Medium |
| Testis | 15.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical cancer cell line |
| HEK293 | 11.8 | Embryonic kidney cells |
| A549 | 9.5 | Lung carcinoma cells |
| MCF7 | 7.3 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.1% | Unknown functional impact |
| c.567_568del (p.Leu190fs) | Frameshift | <0.1% | Predicted loss of function |
| c.890T>C (p.Leu297Pro) | Missense | <0.1% | Alters BAR domain |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely cause loss of SNX1 function, impairing endosomal sorting.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants in the BAR domain may exert dominant-negative effects by disrupting retromer complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • endosomal transport | • protein transport |
| • phosphatidylinositol binding | • protein homodimerization activity |
| • retromer complex |
Pathways
• Endosomal sorting
• Retromer-mediated retrograde transport
• EGFR signaling
Protein Summary
Sorting nexin 1 is a 522-amino acid protein with a PX domain for membrane targeting and a BAR domain for membrane curvature sensing. It forms part of the retromer complex and regulates endosome-to-Golgi retrieval of transmembrane receptors. SNX1 is ubiquitously expressed and plays a role in cell signaling, nutrient uptake, and pathogen entry.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNX19 Knockout HEK293 Cell Line | EDJ-KQ2525 | Human | 399979 | Details Get a Quote |
| SNX17 Knockout HEK293 Cell Line | EDJ-KQ2617 | Human | 9784 | Details Get a Quote |
| SNX12 Knockout HEK293 Cell Line | EDJ-KQ3337 | Human | 29934 | Details Get a Quote |
| SNX1 Knockout HEK293 Cell Line | EDJ-KQ5819 | Human | 6642 | Details Get a Quote |
| SNX18 Knockout HEK293 Cell Line | EDJ-KQ7386 | Human | 112574 | Details Get a Quote |
| SNX13 Knockout HEK293 Cell Line | EDJ-KQ7859 | Human | 23161 | Details Get a Quote |
| SNX10 Knockout HEK293 Cell Line | EDJ-KQ9063 | Human | 29887 | Details Get a Quote |
| SNX15 Knockout HEK293 Cell Line | EDJ-KQ9076 | Human | 29907 | Details Get a Quote |
| SNX11 Knockout HEK293 Cell Line | EDJ-KQ9081 | Human | 29916 | Details Get a Quote |
| SNX16 Knockout HEK293 Cell Line | EDJ-KQ14657 | Human | 64089 | Details Get a Quote |
| SNX14 Knockout HEK293 Cell Line | EDJ-KQ15410 | Human | 57231 | Details Get a Quote |
| SNX19 Knockout A-549 Cell Line | EDJ-KQ23143 | Human | 399979 | Details Get a Quote |
| SNX19 Knockout HCT 116 Cell Line | EDJ-KQ23144 | Human | 399979 | Details Get a Quote |
| SNX12 Knockout A-549 Cell Line | EDJ-KQ24977 | Human | 29934 | Details Get a Quote |
| SNX12 Knockout HCT 116 Cell Line | EDJ-KQ24978 | Human | 29934 | Details Get a Quote |
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