SH3GLB1 Gene

HGNC Family	Protein phosphatase 1 regulatory subunits (PPP1R)
Name	SH3-domain GRB2-like endophilin B1
Description	This gene encodes a SRC homology 3 domain-containing protein. The encoded protein interacts with the proapoptotic member of the Bcl-2 family, Bcl-2-associated X protein (Bax) and may be involved in regulating apoptotic signaling pathways. This protein may also be involved in maintaining mitochondrial morphology. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nEndophilin B1—encoded by SH3GLB1—is a multifunctional BAR domain–containing protein that plays a pivotal role in membrane remodeling and mitochondrial dynamics. Its N‐BAR domain confers the ability to sense and induce positive membrane curvature, a feature that not only underlies the formation of transport vesicles and the fission of Golgi and mitochondrial membranes, but also parallels observations made for other endophilin family members. In addition, dynamic associations with partners such as dynamin‐2 and with specific lipids contribute to its capacity to regulate distinct membrane scission events."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n \nEndophilin B1 is also a critical regulator of intrinsic apoptotic signaling. It interacts with proapoptotic members Bax and Bak, facilitating their conformational changes and oligomerization at the mitochondrial outer membrane to promote mitochondrial outer membrane permeabilization (MOMP) and subsequent cytochrome c release. This proapoptotic function can be modulated by post‐translational events, such as Src kinase–mediated phosphorylation, which impairs its binding to Bax and thereby represses apoptosis. In various cancers—including gastric, bladder, prostate, and Merkel cell carcinoma—reduced expression or altered regulation of Endophilin B1 has been associated with impaired apoptotic responsiveness and therefore may contribute to tumorigenesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "14"}]}, {"type": "t", "text": "\n \nBeyond its roles in membrane shaping and apoptosis, Endophilin B1 is intimately involved in the regulation of autophagy and intracellular signaling pathways that influence cancer progression and neurodegeneration. It aids in the trafficking of Atg9-containing vesicles and the fragmentation of Golgi membranes needed for autophagosome biogenesis, with its activity being modulated by upstream kinases such as GSK-3β. In several tumor types—including pancreatic, prostate, breast, and melanoma—deregulation of Endophilin B1 has been correlated with altered EGFR endocytic trafficking, enhanced metabolic activity, and disrupted crosstalk between key autophagy regulators such as Beclin-1 and proapoptotic effectors. Its decreased expression has been linked not only to accelerated tumor progression but also to neurodegenerative processes, as exemplified by its neuroprotective role in Alzheimer’s disease. Cooperative interactions with endophilin B2 further extend its function to mitophagy, underscoring its importance in the integration of mitochondrial quality control with overall cell fate decisions."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "15", "end_ref": "26"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Mariusz Karbowski, Seon-Yong Jeong, Richard J Youle "}, {"type": "b", "children": [{"type": "t", "text": "Endophilin B1 is required for the maintenance of mitochondrial morphology."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.200407046"}], "href": "https://doi.org/10.1083/jcb.200407046"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15452144"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15452144"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Michitaka Masuda, Soichi Takeda, Manami Sone, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Endophilin BAR domain drives membrane curvature by two newly identified structure-based mechanisms."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.emboj.7601176"}], "href": "https://doi.org/10.1038/sj.emboj.7601176"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16763557"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16763557"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jinhui Li, Barbara Barylko, John P Eichorst, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "IFNg-induced Irgm1 promotes tumorigenesis of melanoma via dual regulation of apoptosis and Bif-1-dependent autophagy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/onc.2014.459"}], "href": "https://doi.org/10.1038/onc.2014.459"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25619828"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25619828"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "David B Wang, Yoshito Kinoshita, Chizuru Kinoshita, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "BIF-1 inhibits both mitochondrial and glycolytic ATP production: its downregulation promotes melanoma growth."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncogene (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41388-020-1339-8"}], "href": "https://doi.org/10.1038/s41388-020-1339-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32493957"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32493957"}]}, {"type": "r", "ref": 26, "children": [{"type": "t", "text": "Ž Frangež, S M Seyed Jafari, R E Hunger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Loss of Concurrent Regulation of the Expression of BIF-1, BAX, and Beclin-1 in Primary and Metastatic Melanoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochemistry (Mosc) (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1134/S0006297920100107"}], "href": "https://doi.org/10.1134/S0006297920100107"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33202207"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33202207"}]}]}]}
Synonyms	CGI-61, BIF-1, PPP1R70, DJ612B15.2
Proteins	SHLB1_HUMAN
NCBI Gene ID	51100
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

SH3GLB1 has 7,302 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 125 datasets.

Click the + buttons to view associations for SH3GLB1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

SH3GLB1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SH3GLB1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of SH3GLB1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of SH3GLB1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of SH3GLB1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of SH3GLB1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of SH3GLB1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SH3GLB1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of SH3GLB1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of SH3GLB1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of SH3GLB1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of SH3GLB1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with SH3GLB1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with SH3GLB1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SH3GLB1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of SH3GLB1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of SH3GLB1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing SH3GLB1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of SH3GLB1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing SH3GLB1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing SH3GLB1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing SH3GLB1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with SH3GLB1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with SH3GLB1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of SH3GLB1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with SH3GLB1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with SH3GLB1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by SH3GLB1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with SH3GLB1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with SH3GLB1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with SH3GLB1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with SH3GLB1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at SH3GLB1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of SH3GLB1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of SH3GLB1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing SH3GLB1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with SH3GLB1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with SH3GLB1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of SH3GLB1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with SH3GLB1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing SH3GLB1 from the GeneSigDB Published Gene Signatures dataset.