SH3GLB1
Endophilin-B1
Also known as: Bif-1, CGI-61, KIAA0491, PPP1R70, SHLB1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y371
- Gene
- SH3GLB1
- Ensembl
- ENSG00000097033
- Chromosome
- 1
- Canonical length
- 365 aa
- Protein class
- Metabolic proteins, Predicted intracellular proteins, Transporters
- Subcellular location
- Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
365 residues, UniProt reviewed canonical sequence.
>Q9Y371|SH3GLB1
1 MNIMDFNVKK LAADAGTFLS RAVQFTEEKL GQAEKTELDA HLENLLSKAE CTKIWTEKIM
61 KQTEVLLQPN PNARIEEFVY EKLDRKAPSR INNPELLGQY MIDAGTEFGP GTAYGNALIK
121 CGETQKRIGT ADRELIQTSA LNFLTPLRNF IEGDYKTIAK ERKLLQNKRL DLDAAKTRLK
181 KAKAAETRNS SEQELRITQS EFDRQAEITR LLLEGISSTH AHHLRCLNDF VEAQMTYYAQ
241 CYQYMLDLQK QLGSFPSNYL SNNNQTSVTP VPSVLPNAIG SSAMASTSGL VITSPSNLSD
301 LKECSGSRKA RVLYDYDAAN STELSLLADE VITVFSVVGM DSDWLMGERG NQKGKVPITY
361 LELLNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SH3GLB1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.39
- Highest tissue expression
- 163 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 163 nTPM
- testis: 102 nTPM
- adipose tissue: 100 nTPM
- tongue: 92 nTPM
- esophagus: 74 nTPM
- heart muscle: 68 nTPM
Single-cell type
- neutrophils: 1,166 nCPM
- esophageal apical cells: 1,112 nCPM
- late primary spermatocytes: 954 nCPM
- early spermatids: 578 nCPM
- esophageal suprabasal cells: 388 nCPM
- extravillous trophoblasts: 311 nCPM
Immune cell
- neutrophil: 303 nTPM
- basophil: 154 nTPM
- non-classical monocyte: 77 nTPM
- eosinophil: 67 nTPM
- T-reg: 66 nTPM
- intermediate monocyte: 65 nTPM
Brain region
- white matter: 59 nTPM
- medulla oblongata: 56 nTPM
- hypothalamus: 52 nTPM
- spinal cord: 50 nTPM
- basal ganglia: 48 nTPM
- thalamus: 47 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.24
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 1.63
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- 'de novo' post-translational protein folding
- apoptotic process
- autophagic cell death
- autophagy
- cellular response to amino acid starvation
- cellular response to glucose starvation
- membrane fission
- membrane organization
- phosphatidic acid biosynthetic process
- positive regulation of autophagosome assembly
- positive regulation of autophagy
- positive regulation of membrane tubulation
- positive regulation of protein targeting to mitochondrion
- positive regulation of protein-containing complex assembly
- receptor catabolic process
- regulation of cytokinesis
- regulation of macroautophagy
- regulation of protein stability
- protein localization to vacuolar membrane
Molecular functions
- cadherin binding
- fatty acid binding
- identical protein binding
- lysophosphatidic acid acyltransferase activity
- phosphatidylinositol 3-kinase activator activity
- protein homodimerization activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SH3 domain
- BAR domain
- AH/BAR domain superfamily
- SH3-like domain superfamily
- Endophilin/SH3RF
- BAR domain
- Variant SH3 domain
- Endophilin-B1, SH3 domain
- Endophilin-B1, BAR domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SH3GLB1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SH3GLB1 as an antibody target. Whether an autoantibody or antibody against SH3GLB1 could matter depends on whether native SH3GLB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SH3GLB1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SH3GLB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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