SGIP1: SH3GL2 Interacting Protein 1
A key regulator of endocytosis and energy homeostasis
Gene Information Card
| Symbol | SGIP1 |
|---|---|
| Full Name | SH3GL2 interacting protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p31.3 |
| NCBI Gene ID | 84251 ncbi.nlm.nih.gov/gene/84251 |
| Ensembl ID | ENSG00000118473 |
| UniProt ID | Q9BQI5 |
| OMIM ID | 611202 |
| HGNC ID | 29373 |
| Aliases | FLJ12787, SH3GL2BP, SH3GL2 interacting protein 1 |
Description
SGIP1 encodes a protein that interacts with SH3GL2 (endophilin A1) and is involved in clathrin-mediated endocytosis. It plays a role in energy balance and has been associated with obesity and metabolic traits.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | SGIP1 variants may alter endocytic regulation of leptin signaling or other appetite-regulating pathways. | GWAS and candidate gene studies (PMID: 19079258, 21779157) |
| Metabolic syndrome | Potential impact on energy homeostasis through endocytic modulation of receptor trafficking. | Association studies (PMID: 21779157) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Adipose tissue | 8.3 | Low |
| Liver | 5.1 | Low |
| Kidney | 4.7 | Low |
| Testis | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal cell line |
| HEK293 | 6.8 | Embryonic kidney cells |
| HepG2 | 4.5 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs11645858 | SNP | 0.15 (allele frequency) | Intronic variant associated with obesity |
| rs10492972 | SNP | 0.10 | Missense variant (p.Arg290Gln) of uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in literature.
Gain of Function (GOF)
Not established.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • endocytosis (GO:0006897) | • regulation of endocytosis (GO:0030100) |
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
Pathways
• Clathrin-mediated endocytosis (Reactome: R-HSA-8856828)
• Endocytosis (KEGG: hsa04144)
Protein Summary
SGIP1 is a 651-amino acid protein containing an N-terminal F-BAR domain and a C-terminal SH3 domain-binding region. It localizes to the plasma membrane and endocytic structures, facilitating clathrin-coated pit formation. Its interaction with SH3GL2 is critical for synaptic vesicle recycling and receptor internalization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SGIP1 Knockout HEK293 Cell Line | EDJ-KQ10031 | Human | 84251 | Details Get a Quote |
| SGIP1 Knockout HeLa Cell Line | EDJ-KQ57562 | Human | 84251 | Details Get a Quote |
| SGIP1 Knockout A-549 Cell Line | EDJ-KQ66059 | Human | 84251 | Details Get a Quote |
| SGIP1 Knockout HCT 116 Cell Line | EDJ-KQ74482 | Human | 84251 | Details Get a Quote |
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