SH3GLB1 Gene - SH3 Domain Containing GRB2 Like, Endophilin B1
Key regulator of mitochondrial morphology, autophagy, and apoptosis
Gene Information Card
| Symbol | SH3GLB1 |
|---|---|
| Full Name | SH3 Domain Containing GRB2 Like, Endophilin B1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p22.1 |
| NCBI Gene ID | 51100 ncbi.nlm.nih.gov/gene/51100 |
| Ensembl ID | ENSG00000134243 |
| UniProt ID | Q9Y371 |
| OMIM ID | 608487 |
| HGNC ID | 10833 |
| Aliases | Bif-1, CGI-61, dJ612B15.2, SH3GLB1 |
Description
SH3GLB1 (SH3 Domain Containing GRB2 Like, Endophilin B1) encodes a member of the endophilin family of Src homology 3 (SH3) domain-containing proteins. The protein, also known as Bif-1 (Bax-interacting factor 1), is involved in mitochondrial fission, autophagy, and apoptosis. It interacts with BAX and BAK to promote mitochondrial outer membrane permeabilization and with ATG9 to regulate autophagosome formation. SH3GLB1 is widely expressed and has been implicated in cancer, neurodegenerative disorders, and metabolic diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of SH3GLB1 reduces autophagy and promotes tumorigenesis; altered expression correlates with poor prognosis | PMID: 18593906; COSMIC |
| Colorectal cancer | Downregulation of SH3GLB1 associated with increased proliferation and metastasis | PMID: 22926525 |
| Gastric cancer | Reduced SH3GLB1 expression linked to advanced stage and lymph node metastasis | PMID: 23149705 |
| Hepatocellular carcinoma | SH3GLB1 underexpression promotes cell survival and chemoresistance | PMID: 24820476 |
| Neurodegenerative diseases (Alzheimer's, Parkinson's) | Impaired autophagy due to SH3GLB1 dysfunction contributes to protein aggregation | PMID: 22286214 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.8 | Low |
| Lung | 7.4 | Low |
| Breast | 5.3 | Low |
| Colon | 6.7 | Low |
| Stomach | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| MCF7 | 8.5 | Breast cancer cell line |
| HCT116 | 9.1 | Colorectal cancer cell line |
| HEK293 | 11.0 | Embryonic kidney cell line |
| SH-SY5Y | 12.8 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon; predicted loss of function |
| c.287C>T (p.Pro96Leu) | missense | <0.01% | Unknown significance |
| c.523G>A (p.Glu175Lys) | missense | <0.01% | Unknown significance |
| c.739C>T (p.Arg247Trp) | missense | <0.01% | Unknown significance |
| c.895G>A (p.Gly299Arg) | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations leading to truncated protein; reduced autophagy and increased apoptosis resistance observed in cancer models.
Gain of Function (GOF)
Not well documented; no recurrent activating mutations reported.
Dominant Negative (DN)
Missense mutations in the SH3 domain may disrupt interactions with BAX or ATG9, impairing mitochondrial fission and autophagy.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Autophagy - animal (KEGG: hsa04140)
• Apoptosis (KEGG: hsa04210)
• p53 signaling pathway (KEGG: hsa04115)
• Mitophagy - animal (KEGG: hsa04137)
Protein Summary
SH3GLB1 (endophilin B1/Bif-1) is a 365-amino acid protein containing an N-terminal BAR domain and a C-terminal SH3 domain. It localizes to mitochondria and endosomes, where it promotes membrane curvature and fission. Through interaction with BAX/BAK, it facilitates mitochondrial outer membrane permeabilization during apoptosis. It also binds ATG9 to initiate autophagosome formation. Loss of SH3GLB1 impairs autophagy and enhances tumor growth in multiple cancer types. The protein is ubiquitously expressed with highest levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SH3GLB1 Knockout HEK293 Cell Line | EDJ-KQ10215 | Human | 51100 | Details Get a Quote |
| SH3GLB1 Knockout A-549 Cell Line | EDJ-KQ38677 | Human | 51100 | Details Get a Quote |
| SH3GLB1 Knockout HCT 116 Cell Line | EDJ-KQ38678 | Human | 51100 | Details Get a Quote |
| SH3GLB1 Knockout HeLa Cell Line | EDJ-KQ38679 | Human | 51100 | Details Get a Quote |
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