SH3GL1

SH3GL1
Identifiers
Aliases	SH3GL1, CNSA1, EEN, SH3D2B, SH3P8, SH3 domain containing GRB2 like 1, endophilin A2
External IDs	OMIM: 601768; MGI: 700010; GeneCards: SH3GL1
Gene location (Human)
Chr.	Chromosome 19 (human)
End	4,400,547 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	56,343,635 bp
RNA expression pattern
	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
	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
Databases	NCBI: entry; OMA: entry
	6455
	20405
	ENSG00000141985
	ENSMUSG00000003200
	Q99961; Q6FGM0
	Q62419
	NM_001199943; NM_001199944; NM_003025
	NM_001252471; NM_013664; NM_001357649
	NP_001186872; NP_001186873; NP_003016; NP_003016.1
	NP_001239400; NP_038692; NP_001344578
	Wikidata
View/Edit Human	View/Edit Mouse

Endophilin-A2 is a protein that in humans is encoded by the SH3GL1 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000141985 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000003200 – 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: SH3GL1 SH3-domain GRB2-like 1".

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. Bibcode:2005BBRC..329.1010Y. 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.

This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000141985 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid9169142-5] 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.

[entrez-6] "Entrez Gene: SH3GL1 SH3-domain GRB2-like 1".

SH3GL1

References

Further reading