SH3GL2

Protein-coding gene in the species Homo sapiens

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)^[1]

Band	9p22.2	Start	17,579,066 bp^[1]
Band	9p22.2	End	17,797,124 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 4 (mouse)^[2]

Band	4 C4\|4 40.23 cM	Start	85,123,363 bp^[2]
Band	4 C4\|4 40.23 cM	End	85,557,432 bp^[2]

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 neuronal cell body 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

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Endophilin-A1 is a protein that in humans is encoded by the SH3GL2 gene.^[5]^[6]

Interactions

SH3GL2 has been shown to interact with DNM1,^[7]^[8] Amphiphysin,^[7]^[8] ADAM9,^[9] SH3KBP1^[10] and ADAM15.^[9]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000107295 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028488 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Giachino C; Lantelme E; Lanzetti L; Saccone S; Bella Valle G; Migone N (Jul 1997). "A novel SH3-containing human gene family preferentially expressed in the central nervous system". Genomics. 41 (3): 427–34. doi:10.1006/geno.1997.4645. PMID 9169142.
^ "Entrez Gene: SH3GL2 SH3-domain GRB2-like 2".
^ ^a ^b Micheva, K D; Kay B K; McPherson P S (Oct 1997). "Synaptojanin forms two separate complexes in the nerve terminal. Interactions with endophilin and amphiphysin". J. Biol. Chem. 272 (43). UNITED STATES: 27239–45. doi:10.1074/jbc.272.43.27239. ISSN 0021-9258. PMID 9341169.
^ ^a ^b Modregger, Jan; Schmidt Anne A; Ritter Brigitte; Huttner Wieland B; Plomann Markus (Feb 2003). "Characterization of Endophilin B1b, a brain-specific membrane-associated lysophosphatidic acid acyl transferase with properties distinct from endophilin A1". J. Biol. Chem. 278 (6). United States: 4160–7. doi:10.1074/jbc.M208568200. ISSN 0021-9258. PMID 12456676.
^ ^a ^b Howard, L; Nelson K K; Maciewicz R A; Blobel C P (Oct 1999). "Interaction of the metalloprotease disintegrins MDC9 and MDC15 with two SH3 domain-containing proteins, endophilin I and SH3PX1". J. Biol. Chem. 274 (44). UNITED STATES: 31693–9. doi:10.1074/jbc.274.44.31693. ISSN 0021-9258. PMID 10531379.
^ Soubeyran, Philippe; Kowanetz Katarzyna; Szymkiewicz Iwona; Langdon Wallace Y; Dikic Ivan (Mar 2002). "Cbl-CIN85-endophilin complex mediates ligand-induced downregulation of EGF receptors". Nature. 416 (6877). England: 183–7. Bibcode:2002Natur.416..183S. doi:10.1038/416183a. ISSN 0028-0836. PMID 11894095. S2CID 635702.

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.

PDB gallery

1x03: Crystal structure of endophilin BAR domain
1zww: Crystal structure of endophilin-A1 BAR domain
2c08: RAT ENDOPHILIN A1 BAR DOMAIN
2d4c: Crystal structure of the endophilin BAR domain mutant
2dbm: Solution structures of the SH3 domain of human SH3-containing GRB2-like protein 2