SH3GL1

Endophilin-A2 is a protein that in humans is encoded by the SH3GL1 gene.[5][6]

SH3GL1
Identifiers
Aliases	SH3GL1, CNSA1, EEN, SH3D2B, SH3P8, SH3 domain containing GRB2 like 1, endophilin A2
External IDs	OMIM: 601768 MGI: 700010 HomoloGene: 55709 GeneCards: SH3GL1
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19p13.3 Start 4,360,370 bp[1] End 4,400,547 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 D|17 29.11 cM Start 56,016,750 bp[2] End 56,036,635 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding • identical protein binding • lipid binding • cadherin binding • SH3 domain binding • beta-1 adrenergic receptor binding • ion channel binding • protein C-terminus binding • phosphatase binding • GTPase binding Cellular component • cytoplasm • podosome • cell junction • endosome • cell projection • early endosome membrane • membrane • cytosol • hippocampal mossy fiber to CA3 synapse • synapse • Schaffer collateral - CA1 synapse • presynapse • glutamatergic synapse • postsynaptic density, intracellular component Biological process • central nervous system development • endocytosis • signal transduction • synaptic vesicle uncoating • modulation of excitatory postsynaptic potential • regulation of synaptic vesicle endocytosis • positive regulation of synaptic vesicle endocytosis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6455	20405
Ensembl	ENSG00000141985	ENSMUSG00000003200
UniProt	Q99961 Q6FGM0	Q62419
RefSeq (mRNA)	NM_001199943 NM_001199944 NM_003025	NM_001252471 NM_013664 NM_001357649
RefSeq (protein)	NP_001186872 NP_001186873 NP_003016 NP_003016.1	NP_001239400 NP_038692 NP_001344578
Location (UCSC)	Chr 19: 4.36 – 4.4 Mb	Chr 17: 56.02 – 56.04 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

References

1. GRCh38: Ensembl release 89: ENSG00000141985 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000003200 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. "Entrez Gene: SH3GL1 SH3-domain GRB2-like 1".

Further reading

• 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. 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. doi:10.1073/pnas.94.16.8569. PMC 23017. PMID 9238017.
• 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.
• 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. doi:10.1038/416187a. PMID 11894096.
• 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.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Yam JW, Jin DY, So CW, Chan LC (2004). "Identification and characterization of EBP, a novel EEN binding protein that inhibits Ras signaling and is recruited into the nucleus by the MLL-EEN fusion protein". Blood. 103 (4): 1445–53. doi:10.1182/blood-2003-07-2452. hdl:10722/48499. PMID 14551139.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Liu H, Chen B, Xiong H, et al. (2004). "Functional contribution of EEN to leukemogenic transformation by MLL-EEN fusion protein". Oncogene. 23 (19): 3385–94. doi:10.1038/sj.onc.1207402. PMID 15077184.
• Cheung N, So CW, Yam JW, et al. (2005). "Subcellular localization of EEN/endophilin A2, a fusion partner gene in leukaemia". Biochem. J. 383 (Pt 1): 27–35. doi:10.1042/BJ20040041. PMC 1134040. PMID 15214844.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Yin X, Warner DR, Roberts EA, et al. (2005). "Identification of novel CBP interacting proteins in embryonic orofacial tissue". Biochem. Biophys. Res. Commun. 329 (3): 1010–7. doi:10.1016/j.bbrc.2005.02.075. PMID 15752756.
• Lua BL, Low BC (2005). "Activation of EGF receptor endocytosis and ERK1/2 signaling by BPGAP1 requires direct interaction with EEN/endophilin II and a functional RhoGAP domain". J. Cell Sci. 118 (Pt 12): 2707–21. doi:10.1242/jcs.02383. PMID 15944398.
• Ralser M, Nonhoff U, Albrecht M, et al. (2005). "Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways". Hum. Mol. Genet. 14 (19): 2893–909. doi:10.1093/hmg/ddi321. PMID 16115810.
• Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.