SH3GL2

Endophilin-A1 is a protein that in humans is encoded by the SH3GL2 gene.

SH3GL2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1X03, 1X04, 2D4C, 2DBM
Identifiers
Aliases	SH3GL2, CNSA2, EEN-B1, SH3D2A, SH3P4, SH3 domain containing GRB2 like 2, endophilin A1
External IDs	OMIM: 604465; MGI: 700009; HomoloGene: 20652; GeneCards: SH3GL2; OMA:SH3GL2 - orthologs
Gene location (Human) Chr. Chromosome 9 (human) Band 9p22.2 Start 17,579,066 bp End 17,797,124 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4 C4|4 40.23 cM Start 85,123,363 bp End 85,557,432 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 23 middle temporal gyrus endothelial cell cerebellar cortex cerebellar hemisphere right hemisphere of cerebellum cerebellar vermis primary visual cortex lateral nuclear group of thalamus orbitofrontal cortex Top expressed in transitional epithelium of urinary bladder lobe of cerebellum cerebellar vermis pontine nuclei subiculum habenula deep cerebellar nuclei medial vestibular nucleus motor neuron medial dorsal nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding lipid binding identical protein binding protein homodimerization activity protein C-terminus binding protein kinase binding Cellular component cytoplasm clathrin-coated endocytic vesicle membrane membrane Golgi membrane plasma membrane synapse early endosome endosome cytosol soma perinuclear region of cytoplasm basal dendrite presynapse synaptic vesicle membrane photoreceptor ribbon synapse Schaffer collateral - CA1 synapse hippocampal mossy fiber to CA3 synapse glutamatergic synapse presynaptic cytosol Biological process negative regulation of epidermal growth factor receptor signaling pathway endocytosis antigen processing and presentation of exogenous peptide antigen via MHC class II central nervous system development synaptic vesicle endocytosis regulation of receptor internalization signal transduction membrane organization synaptic vesicle uncoating neuron projection development dendrite extension cellular response to brain-derived neurotrophic factor stimulus lipid tube assembly membrane tubulation membrane bending vesicle scission positive regulation of membrane tubulation regulation of clathrin-dependent endocytosis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6456 20404 Ensembl ENSG00000107295 ENSMUSG00000028488 UniProt Q99962 Q62420 RefSeq (mRNA) NM_003026 NM_019535 RefSeq (protein) NP_003017 NP_062408 Location (UCSC) Chr 9: 17.58 – 17.8 Mb Chr 4: 85.12 – 85.56 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Interactions

SH3GL2 has been shown to interact with DNM1, Amphiphysin, ADAM9, SH3KBP1 and ADAM15.

Further reading

• Ren Y, Fang F, Davey F, Taylor M, Aiton J, Coote P, Yao J, Chen JX, Yan SD & Gunn-Moore FJ. (2008). "Endophilin I expression is increased in the brains of Alzheimer's disease patients". Journal of Biological Chemistry. 283 (9): 5685–91. doi:10.1074/jbc.M707932200. PMID 18167351.{{cite journal}}: CS1 maint: multiple names: authors list (link)
• Reutens AT; Begley CG (2002). "Endophilin-1: a multifunctional protein". Int. J. Biochem. Cell Biol. 34 (10): 1173–7. doi:10.1016/S1357-2725(02)00063-8. PMID 12127567.
• So CW, Caldas C, Liu MM, et al. (1997). "EEN encodes for a member of a new family of proteins containing an Src homology 3 domain and is the third gene located on chromosome 19p13 that fuses to MLL in human leukemia". Proc. Natl. Acad. Sci. U.S.A. 94 (6): 2563–8. Bibcode:1997PNAS...94.2563S. doi:10.1073/pnas.94.6.2563. PMC 20128. PMID 9122235.
• Ringstad N; Nemoto Y; De Camilli P (1997). "The SH3p4/Sh3p8/SH3p13 protein family: binding partners for synaptojanin and dynamin via a Grb2-like Src homology 3 domain". Proc. Natl. Acad. Sci. U.S.A. 94 (16): 8569–74. Bibcode:1997PNAS...94.8569R. doi:10.1073/pnas.94.16.8569. PMC 23017. PMID 9238017.
• Micheva KD; Ramjaun AR; Kay BK; McPherson PS (1997). "SH3 domain-dependent interactions of endophilin with amphiphysin". FEBS Lett. 414 (2): 308–12. doi:10.1016/S0014-5793(97)01016-8. PMID 9315708. S2CID 21328416.
• Micheva KD; Kay BK; McPherson PS (1997). "Synaptojanin forms two separate complexes in the nerve terminal. Interactions with endophilin and amphiphysin". J. Biol. Chem. 272 (43): 27239–45. doi:10.1074/jbc.272.43.27239. PMID 9341169.
• Howard L; Nelson KK; Maciewicz RA; Blobel CP (1999). "Interaction of the metalloprotease disintegrins MDC9 and MDC15 with two SH3 domain-containing proteins, endophilin I and SH3PX1". J. Biol. Chem. 274 (44): 31693–9. doi:10.1074/jbc.274.44.31693. PMID 10531379.
• Tang Y, Hu LA, Miller WE, et al. (1999). "Identification of the endophilins (SH3p4/p8/p13) as novel binding partners for the beta1-adrenergic receptor". Proc. Natl. Acad. Sci. U.S.A. 96 (22): 12559–64. Bibcode:1999PNAS...9612559T. doi:10.1073/pnas.96.22.12559. PMC 22990. PMID 10535961.
• Cestra G, Castagnoli L, Dente L, et al. (1999). "The SH3 domains of endophilin and amphiphysin bind to the proline-rich region of synaptojanin 1 at distinct sites that display an unconventional binding specificity". J. Biol. Chem. 274 (45): 32001–7. doi:10.1074/jbc.274.45.32001. PMID 10542231.
• So CW, So CK, Cheung N, et al. (2000). "The interaction between EEN and Abi-1, two MLL fusion partners, and synaptojanin and dynamin: implications for leukaemogenesis". Leukemia. 14 (4): 594–601. doi:10.1038/sj.leu.2401692. PMID 10764144.
• So CW, Sham MH, Chew SL, et al. (2000). "Expression and protein-binding studies of the EEN gene family, new interacting partners for dynamin, synaptojanin and huntingtin proteins". Biochem. J. 348 (2): 447–58. doi:10.1042/0264-6021:3480447. PMC 1221085. PMID 10816441.
• Zucconi A, Dente L, Santonico E, et al. (2001). "Selection of ligands by panning of domain libraries displayed on phage lambda reveals new potential partners of synaptojanin 1". J. Mol. Biol. 307 (5): 1329–39. doi:10.1006/jmbi.2001.4572. PMID 11292345.
• Ramjaun AR, Angers A, Legendre-Guillemin V, et al. (2001). "Endophilin regulates JNK activation through its interaction with the germinal center kinase-like kinase". J. Biol. Chem. 276 (31): 28913–9. doi:10.1074/jbc.M103198200. PMID 11384986.
• Chen-Hwang MC; Chen HR; Elzinga M; Hwang YW (2002). "Dynamin is a minibrain kinase/dual specificity Yak1-related kinase 1A substrate". J. Biol. Chem. 277 (20): 17597–604. doi:10.1074/jbc.M111101200. PMID 11877424.
• Soubeyran P, Kowanetz K, Szymkiewicz I, et al. (2002). "Cbl-CIN85-endophilin complex mediates ligand-induced downregulation of EGF receptors". Nature. 416 (6877): 183–7. Bibcode:2002Natur.416..183S. doi:10.1038/416183a. PMID 11894095. S2CID 635702.
• Petrelli A, Gilestro GF, Lanzardo S, et al. (2002). "The endophilin-CIN85-Cbl complex mediates ligand-dependent downregulation of c-Met". Nature. 416 (6877): 187–90. Bibcode:2002Natur.416..187P. doi:10.1038/416187a. PMID 11894096. S2CID 4389099.
• Chatellard-Causse C, Blot B, Cristina N, et al. (2002). "Alix (ALG-2-interacting protein X), a protein involved in apoptosis, binds to endophilins and induces cytoplasmic vacuolization". J. Biol. Chem. 277 (32): 29108–15. doi:10.1074/jbc.M204019200. PMID 12034747.
• Szymkiewicz I, Kowanetz K, Soubeyran P, et al. (2002). "CIN85 participates in Cbl-b-mediated down-regulation of receptor tyrosine kinases". J. Biol. Chem. 277 (42): 39666–72. doi:10.1074/jbc.M205535200. PMID 12177062.
• Haglund K; Shimokawa N; Szymkiewicz I; Dikic I (2002). "Cbl-directed monoubiquitination of CIN85 is involved in regulation of ligand-induced degradation of EGF receptors". Proc. Natl. Acad. Sci. U.S.A. 99 (19): 12191–6. Bibcode:2002PNAS...9912191H. doi:10.1073/pnas.192462299. PMC 129420. PMID 12218189.
• Verstreken P, Kjaerulff O, Lloyd TE, et al. (2002). "Endophilin mutations block clathrin-mediated endocytosis but not neurotransmitter release". Cell. 109 (1): 101–12. doi:10.1016/S0092-8674(02)00688-8. PMID 11955450. S2CID 11752921.