SH3GL1

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; OMA:SH3GL1 - orthologs
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 56,323,750 bp [2] End 56,343,635 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of leg skin of abdomen mucosa of pharynx ectocervix stromal cell of endometrium olfactory bulb left adrenal cortex right adrenal cortex gastric mucosa vagina Top expressed in spermatocyte granulocyte lip yolk sac calvaria spermatid esophagus neural tube embryo internal carotid artery More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding identical protein binding lipid binding cadherin binding SH3 domain binding beta-1 adrenergic receptor binding transmembrane transporter 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: 56.32 – 56.34 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. 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.
• 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. 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.
• 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. Bibcode:2002PNAS...9916899M. 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 . hdl: 11858/00-001M-0000-0010-85BB-5 . 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. S2CID   8235923.
• 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.