SH3GLB1 (Homo sapiens)
Description [+]
- Synonyms: SH3GLB1, CGI-61, KIAA0491, BIF-1
- Species: Metazoa;Bilateria;Deuterostoma;Chordata;Vertebrata;Mammalia;Primates;Hominidae; Homo sapiens
- Short gene description: Endophilin-B1 (SH3 domain-containing GRB2-like protein B1)(Bax-interacting factor 1)(Bif-1) [Source:UniProtKB/Swiss-Prot;Acc:Q9Y371]
- Family: other
- Process: apoptosis,
- Pathways: intrinsic pathway,
- Criteria: manually curated
- Curator comment:
- Mouse ortholog(s): Sh3glb1
- WIKI: SH3GLB1-H_sapiens
References [+]
- Molecular cloning and characterization of Bif-1. A novel Src homology 3 domain-containing protein that associates with Bax.
- Cuddeback SM, Yamaguchi H, Komatsu K, Miyashita T, Yamada M, Wu C, Singh S, Wang HG
- Bax is a proapoptotic member of the Bcl-2 protein family that commits the cell to undergo programmed cell death in response to apoptotic stimuli. To gain further insights into Bax mechanisms, we have identified a novel Bax-binding protein, termed Bif-1, by using a yeast two-hybrid cloning technique. Bif-1 is an evolutionarily conserved cytoplasmic protein that contains a predicted Src homology 3 (SH3) domain located near its C terminus but shares no significant homology with members of the Bcl-2 family. A Northern blot analysis indicates that Bif-1 is expressed in most tissues with abundant expression in heart and skeletal muscle. Bif-1 is capable of interacting with Bax as demonstrated by yeast two-hybrid, coimmunoprecipitation, and immunofluorescence studies. Induction of apoptosis in murine pre-B hematopoietic cells FL5.12 by interleukin-3 withdrawal results in increased association of Bax with Bif-1, which is accompanied by a conformational change in the Bax protein. Overexpression of Bif-1 promotes Bax conformational change, caspase activation, and apoptotic cell death in FL5.12 cells following interleukin-3 deprivation. Bif-1 thus represents a new type of regulator of Bax-mediated signaling pathways for apoptosis. J Biol Chem. 2001 Jun 8;276(23):20559-65. Epub 2001 Mar 20.
- Endophilin B1/Bif-1 stimulates BAX activation independently from its capacity to produce large scale membrane morphological rearrangements.
- Etxebarria A, Terrones O, Yamaguchi H, Landajuela A, Landeta O, Antonsson B, Wang HG, Basanez G
- Endophilin B1/BAX-interacting factor 1 (Bif-1) is a protein that cooperates with dynamin-like protein 1 (DLP1/Drp1) to maintain normal mitochondrial outer membrane (MOM) dynamics in healthy cells and also contributes to BAX-driven MOM permeabilization (MOMP), the irreversible commitment point to cell death for the majority of apoptotic stimuli. However, despite its importance, exactly how Bif-1 fulfils its proapoptotic role is unknown. Here, we demonstrate that the stimulatory effect of Bif-1 on BAX-driven MOMP and on BAX conformational activation observed in intact cells during apoptosis can be recapitulated in a simplified system consisting of purified proteins and MOM-like liposomes. In this reconstituted model system the N-BAR domain of Bif-1 reproduced the stimulatory effect of Bif-1 on functional BAX activation. This process was dependent on physical interaction between Bif-1 N-BAR and BAX as well as on the presence of the mitochondrion-specific lipid cardiolipin. Despite that Bif-1 N-BAR produced large scale morphological rearrangements in MOM-like liposomes, this phenomenon could be separated from functional BAX activation. Furthermore, DLP1 also caused global morphological changes in MOM-like liposomes, but DLP1 did not stimulate BAX-permeabilizing function in the absence or presence of Bif-1. Taken together, our findings not only provide direct evidence for a functional interplay between Bif-1, BAX, and cardiolipin during MOMP but also add significantly to the growing body of evidence indicating that components of the mitochondrial morphogenesis machinery possess proapoptotic functions that are independent from their recognized roles in normal mitochondrial dynamics. J Biol Chem. 2009 Feb 13;284(7):4200-12. Epub 2008 Dec 11.
Structure & Sequence [+]
Pfam domains:
(Pfam is a large collection of protein families.)
| Source | Domain Name | Start | End |
|---|---|---|---|
| PFAM A | BAR | 11 | 275 |
| PFAM A | SH3_1 | 329 | 385 |
| PFAM A | SH3_2 | 330 | 385 |
Protein sequence [+]
SH3GLB1 | Homo sapiens | 9606 | length:386
MNIMDFNVKKLAADAGTFLSRAVQFTEEKLGQAEKTELDAHLENLLSKAECTKIWTEKIM
KQTEVLLQPNPNARIEEFVYEKLDRKAPSRINNPELLGQYMIDAGTEFGPGTAYGNALIK
CGETQKRIGTADRELIQTSALNFLTPLRNFIEGDYKTIAKERKLLQNKRLDLDAAKTRLK
KAKAAETRNSQLNSARLEGDNIMIWAEEVTKSEQELRITQSEFDRQAEITRLLLEGISST
HAHHLRCLNDFVEAQMTYYAQCYQYMLDLQKQLGSFPSNYLSNNNQTSVTPVPSVLPNAI
GSSAMASTSGLVITSPSNLSDLKECSGSRKARVLYDYDAANSTELSLLADEVITVFSVVG
MDSDWLMGERGNQKGKVPITYLELLN
KQTEVLLQPNPNARIEEFVYEKLDRKAPSRINNPELLGQYMIDAGTEFGPGTAYGNALIK
CGETQKRIGTADRELIQTSALNFLTPLRNFIEGDYKTIAKERKLLQNKRLDLDAAKTRLK
KAKAAETRNSQLNSARLEGDNIMIWAEEVTKSEQELRITQSEFDRQAEITRLLLEGISST
HAHHLRCLNDFVEAQMTYYAQCYQYMLDLQKQLGSFPSNYLSNNNQTSVTPVPSVLPNAI
GSSAMASTSGLVITSPSNLSDLKECSGSRKARVLYDYDAANSTELSLLADEVITVFSVVG
MDSDWLMGERGNQKGKVPITYLELLN
Structure links:
Evolution [+]
View protein alignment and tree with Jalview:
Explore tree at phylomeDB: Click here.
Homologs list [+]
| Name | Relationship | Species |
|---|---|---|
| A_aegypti_AAEL009754-PA | orthology | Aedes |
| A_gambiae_AGAP010376-PA | orthology | Anopheles |
| NP_001006534.1 | orthology | Chicken |
| XR_023492.1 | orthology | Chimpanzee |
| C_intestinalis_ENSCINP00000010846 | orthology | Ciona |
| SHLB1_BOVIN | orthology | Cow |
| SH3GLB1 | orthology | Dog |
| endoB | orthology | Fly |
| SH3GLB1 | orthology | Fugu |
| SH3GLB1 | orthology | Gasterosteus |
| SH3GLB1 | orthology | Gorilla |
| SH3GLB1 | orthology | Horse |
| SH3GLB1 | orthology | Lyzard |
| SH3GLB1 | orthology | Macaca |
| SH3GLB1 | orthology | Medaka |
| SH3GLB1 | orthology | Monodelphis |
| Sh3glb1 | orthology | Mouse |
| SHLB1_PONPY | orthology | Orangutan |
| SH3GLB1 | orthology | Ornithorhynchus |
| SH3GLB1 | orthology | Rabbit |
| Sh3glb1 | orthology | Rat |
| SH3GLB1 | orthology | Tetraodon |
| erp-1 | orthology | Worm |
| sh3glb1 | orthology | Xenopus |
| SH3GLB1 | orthology | Zebra finch |
| sh3glb1 | orthology | Zebrafish |
| zgc:110259 | orthology | Zebrafish |
| zgc:110259 | orthology | Zebrafish |
| A_aegypti_AAEL002469-PB | paralogy | Aedes |
| A_gambiae_AGAP004766-PA | paralogy | Anopheles |
| NP_989860.1 | paralogy | Chicken |
| NP_001006200.1 | paralogy | Chicken |
| NP_989859.1 | paralogy | Chicken |
| NP_989861.1 | paralogy | Chicken |
| SH3GL3 | paralogy | Chimpanzee |
| SH3GL1 | paralogy | Chimpanzee |
| SH3GL2 | paralogy | Chimpanzee |
| SH3GLB2 | paralogy | Chimpanzee |
| C_intestinalis_ENSCINP00000024816 | paralogy | Ciona |
| SH3G1_BOVIN | paralogy | Cow |
| SHLB2_BOVIN | paralogy | Cow |
| NP_001070308.1 | paralogy | Cow |
| SH3GL3 | paralogy | Cow |
| C_familiaris_ENSCAFP00000002279 | paralogy | Dog |
| SH3GL3 | paralogy | Dog |
| SH3GL1 | paralogy | Dog |
| SH3GLB2 | paralogy | Dog |
| endoA | paralogy | Fly |
| SH3GL1 (1 of 2) | paralogy | Fugu |
| ARHGAP17 (2 of 2) | paralogy | Fugu |
| SH3GL1 (2 of 2) | paralogy | Fugu |
| SH3GL2 (1 of 2) | paralogy | Fugu |
| T_rubripes_ENSTRUP00000026216 | paralogy | Fugu |
| SH3GL2 (2 of 2) | paralogy | Fugu |
| T_rubripes_ENSTRUP00000028273 | paralogy | Fugu |
| SH3GLB2 | paralogy | Fugu |
| T_rubripes_ENSTRUP00000035306 | paralogy | Fugu |
| SH3GL3 | paralogy | Fugu |
| ARHGAP17 (1 of 2) | paralogy | Fugu |
| G_aculeatus_ENSGACP00000004756 | paralogy | Gasterosteus |
| G_aculeatus_ENSGACP00000014307 | paralogy | Gasterosteus |
| G_aculeatus_ENSGACP00000014331 | paralogy | Gasterosteus |
| SH3GL1 (1 of 2) | paralogy | Gasterosteus |
| SH3GL3 | paralogy | Gasterosteus |
| SH3GL1 (2 of 2) | paralogy | Gasterosteus |
| SH3GL2 (2 of 2) | paralogy | Gasterosteus |
| G_aculeatus_ENSGACP00000024428 | paralogy | Gasterosteus |
| SH3GL2 (1 of 2) | paralogy | Gasterosteus |
| SH3GL1 | paralogy | Gorilla |
| SH3GLB2 | paralogy | Gorilla |
| SH3GLB2 | paralogy | Horse |
| SH3GL2 | paralogy | Horse |
| SH3GL3 | paralogy | Horse |
| SH3GL1 | paralogy | Horse |
| SH3GL1 | paralogy | Human |
| SH3GL3 | paralogy | Human |
| SH3GLB2 | paralogy | Human |
| SH3GL2 | paralogy | Human |
| SH3GL1 | paralogy | Lyzard |
| SH3GLB2 | paralogy | Lyzard |
| SH3GL2 | paralogy | Lyzard |
| SH3GL2 | paralogy | Macaca |
| SH3GLB2 | paralogy | Macaca |
| SH3GL3 | paralogy | Macaca |
| SH3GL2 (2 of 2) | paralogy | Medaka |
| ARHGAP17 (2 of 2) | paralogy | Medaka |
| O_latipes_ENSORLP00000015712 | paralogy | Medaka |
| O_latipes_ENSORLP00000017966 | paralogy | Medaka |
| SH3GL1 (2 of 2) | paralogy | Medaka |
| O_latipes_ENSORLP00000021066 | paralogy | Medaka |
| SH3GL3 | paralogy | Medaka |
| SH3GL2 (1 of 2) | paralogy | Medaka |
| ARHGAP17 (1 of 2) | paralogy | Medaka |
| SH3GL1 (1 of 2) | paralogy | Medaka |
| SH3GL1 | paralogy | Monodelphis |
| SH3GL2 | paralogy | Monodelphis |
| SH3GLB2 | paralogy | Monodelphis |
| SH3GL3 | paralogy | Monodelphis |
| Sh3gl1 | paralogy | Mouse |
| Sh3gl3 | paralogy | Mouse |
| Sh3gl2 | paralogy | Mouse |
| Sh3glb2 | paralogy | Mouse |
| SH3GL3 | paralogy | Orangutan |
| SH3GL1 | paralogy | Orangutan |
| SH3GLB2 | paralogy | Orangutan |
| SH3GL2 | paralogy | Ornithorhynchus |
| O_anatinus_ENSOANP00000006460 | paralogy | Ornithorhynchus |
| SH3GL1 | paralogy | Ornithorhynchus |
| SH3GLB2 | paralogy | Ornithorhynchus |
| SH3GLB2 | paralogy | Rabbit |
| SH3GL2 | paralogy | Rabbit |
| Sh3gl2 | paralogy | Rat |
| Sh3gl3 | paralogy | Rat |
| SHLB2_RAT | paralogy | Rat |
| SH3GL2 (2 of 2) | paralogy | Tetraodon |
| SH3GL1 (1 of 2) | paralogy | Tetraodon |
| SH3GL1 (2 of 2) | paralogy | Tetraodon |
| ARHGAP17 (2 of 2) | paralogy | Tetraodon |
| T_nigroviridis_ENSTNIP00000022641 | paralogy | Tetraodon |
| SH3GL2 (1 of 2) | paralogy | Tetraodon |
| T_nigroviridis_ENSTNIP00000004657 | paralogy | Tetraodon |
| T_nigroviridis_ENSTNIP00000005236 | paralogy | Tetraodon |
| SH3GL3 | paralogy | Tetraodon |
| T_nigroviridis_ENSTNIP00000006694 | paralogy | Tetraodon |
| unc-57 | paralogy | Worm |
| sh3glb2 | paralogy | Xenopus |
| SH3GL3 | paralogy | Xenopus |
| SH3GL2 | paralogy | Xenopus |
| sh3gl1 | paralogy | Xenopus |
| SH3GL1 | paralogy | Zebra finch |
| T_guttata_ENSTGUP00000004458 | paralogy | Zebra finch |
| SH3GL2 | paralogy | Zebra finch |
| SH3GL3 | paralogy | Zebra finch |
| T_guttata_ENSTGUP00000017496 | paralogy | Zebra finch |
| zgc:158742 | paralogy | Zebrafish |
| sh3gl3 | paralogy | Zebrafish |
| sh3gl2 | paralogy | Zebrafish |
| zgc:111880 | paralogy | Zebrafish |
| zgc:110306 | paralogy | Zebrafish |
| sh3glb2 | paralogy | Zebrafish |
| SH3GL2 (1 of 2) | paralogy | Zebrafish |
| zgc:56637 | paralogy | Zebrafish |
| sh3gl1 | paralogy | Zebrafish |
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Gene Ontology [+]
| GO id | Name | Ontology type | Evidence |
|---|---|---|---|
| GO:0006654 | phosphatidic acid biosynthetic process | biological_proccess | IEA |
| GO:0008654 | phospholipid biosynthetic process | biological_proccess | IEA |
| GO:0051084 | 'de novo' posttranslational protein folding | biological_proccess | IEA |
| GO:0006916 | anti-apoptosis | biological_proccess | IDA |
| GO:0006915 | apoptosis | biological_proccess | IEA |
| GO:0001844 | protein insertion into mitochondrial membrane during induction of apoptosis | biological_proccess | IEA |
| GO:0005504 | fatty acid binding | mollecular_function | IEA |
| GO:0042171 | lysophosphatidic acid acyltransferase activity | mollecular_function | IEA |
| GO:0042803 | protein homodimerization activity | mollecular_function | IPI |
| GO:0005515 | protein binding | mollecular_function | IPI |
| GO:0005515 | protein binding | mollecular_function | IEA |
| GO:0005737 | cytoplasm | cell_component | IDA |
| GO:0005739 | mitochondrion | cell_component | IEA |
| GO:0005741 | mitochondrial outer membrane | cell_component | IEA |
| GO:0005794 | Golgi apparatus | cell_component | IEA |
| GO:0016020 | membrane | cell_component | IEA |
| GO:0005634 | nucleus | cell_component | IDA |
| GO:0005792 | microsome | cell_component | IEA |
| GO:0043234 | protein complex | cell_component | IEA |
| GO:0005737 | cytoplasm | cell_component | IEA |
Check GO Evidence Codes here
Curated Isoforms [+]
| Transcript | Translation |
|---|---|
| OTTHUMT00000028287 | OTTHUMP00000011912 |
| OTTHUMT00000028288 * | OTTHUMP00000011913 * |
| OTTHUMT00000028289 |
Info from The Vertebrate Genome Annotation (VEGA) database.
(*) Canonical transcript and translation forms.
Information from other databases [+]
- Gene info from HGNC [?] :10833
- Gene related info from GeneCards [?] : SH3GLB1
- Ensembl genome browser [?] : ENSG00000097033
- Expression info from Arrayexpress [?] : ENSG00000097033
- Protein expression from Protein Atlas: [?] ENSG00000097033
- Community gene edition from Wikigenes: [?] 51100
- OMIM gene information: 609287
- OMIM disease information:
Click on [?] for more information.
