Human Gene SH3GLB1 (uc001dly.3) Description and Page Index
Description: Homo sapiens SH3-domain GRB2-like endophilin B1 (SH3GLB1), transcript variant 2, mRNA. RefSeq Summary (NM_001206651): 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]. Transcript (Including UTRs) Position: hg19 chr1:87,170,253-87,213,867 Size: 43,615 Total Exon Count: 10 Strand: + Coding Region Position: hg19 chr1:87,170,583-87,208,918 Size: 38,336 Coding Exon Count: 10
ID:SHLB1_HUMAN DESCRIPTION: RecName: Full=Endophilin-B1; AltName: Full=Bax-interacting factor 1; Short=Bif-1; AltName: Full=SH3 domain-containing GRB2-like protein B1; FUNCTION: May be required for normal outer mitochondrial membrane dynamics. Required for coatomer-mediated retrograde transport in certain cells. May recruit other proteins to membranes with high curvature. May promote membrane fusion. SUBUNIT: Binds DNM1, HTT, AMPH, BIN1 and ARFGAP1 (By similarity). Homodimer, and heterodimer with SH3GLB2. Binds BAX. Induction of apoptosis augments BAX binding. INTERACTION: Self; NbExp=4; IntAct=EBI-2623095, EBI-2623095; Q07812:BAX; NbExp=2; IntAct=EBI-5291808, EBI-516580; P24522:GADD45A; NbExp=2; IntAct=EBI-2623095, EBI-448167; Q9NR46:SH3GLB2; NbExp=5; IntAct=EBI-2623095, EBI-749607; SUBCELLULAR LOCATION: Cytoplasm. Golgi apparatus membrane; Peripheral membrane protein (By similarity). Mitochondrion outer membrane; Peripheral membrane protein. Note=Association with the Golgi apparatus depends on the cell type (By similarity). TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle, kidney and placenta. Detected at lower levels in brain, colon, thymus, spleen, liver, small intestine, lung and peripheral blood leukocytes. DOMAIN: An N-terminal amphipathic helix, the BAR domain and a second amphipathic helix inserted into helix 1 of the BAR domain (N-BAR domain) induce membrane curvature and bind curved membranes. PTM: Phosphorylated at Thr-145 by CDK5; this phosphorylation is required for autophagy induction in starved neurons and facilitates homodimerization. MISCELLANEOUS: HeLa cells lacking SH3GLB1 show dissociation of outer and inner mitochondrial membrane as well as abnormal mitochondrial morphology. Cells overexpressing SH3GLB1 lacking an N-terminal amphipathic helix show a similar phenotype. MISCELLANEOUS: SH3GLB1 binds liposomes and induces formation of tubules from liposomes. SH3GLB1 lacking the N-terminal amphipathic helix fails to induce liposome tubulation. SIMILARITY: Belongs to the endophilin family. SIMILARITY: Contains 1 BAR domain. SIMILARITY: Contains 1 SH3 domain. CAUTION: It is uncertain whether Met-1 or Met-4 is the initiator. CAUTION: Was originally (PubMed:12456676) thought to have lysophosphatidic acid acyltransferase activity, but by homology with SH3GL2/endophilin A1 is unlikely to have this activity. SEQUENCE CAUTION: Sequence=AAF81225.1; Type=Erroneous initiation; Sequence=BAD88797.1; Type=Erroneous initiation;
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): SH3GLB1 CDC HuGE Published Literature: SH3GLB1
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9Y371
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary