SH3GL1

Identifiers

SH3GL1, CNSA1, EEN, SH3D2B, SH3P8, SH3 domain containing GRB2 like 1, endophilin A2

External IDs

MGI: 700010 HomoloGene: 55709 GeneCards: SH3GL1

Gene location (Human)

Chr.	Chromosome 19 (human)^[1]

Band	No data available	Start	4,360,370 bp^[1]
Band	No data available	End	4,400,547 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 17 (mouse)^[2]

Band	No data available	Start	56,016,753 bp^[2]
Band	No data available	End	56,036,637 bp^[2]

RNA expression pattern

More reference expression data

Gene ontology
Molecular function	• GTPase binding • phosphatase binding • protein binding • identical protein binding • lipid binding • cadherin binding
Cellular component	• cytoplasm • podosome • cell junction • endosome • cell projection • early endosome membrane • membrane • synapse
Biological process	• central nervous system development • endocytosis • signal transduction • synaptic vesicle uncoating
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

RefSeq (protein)


NP_001186872 NP_001186873 NP_003016 NP_003016.1


NP_001239400 NP_038692

Location (UCSC)

Chr 19: 4.36 – 4.4 Mb

Chr 19: 56.02 – 56.04 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 2 3 GRCh38: Ensembl release 89: ENSG00000141985 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000003200 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ 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. PMID 9169142. doi:10.1006/geno.1997.4645.
↑ "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. PMC 20128 . PMID 9122235. doi:10.1073/pnas.94.6.2563.
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. PMC 23017 . PMID 9238017. doi:10.1073/pnas.94.16.8569.
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. PMID 10542231. doi:10.1074/jbc.274.45.32001.
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. PMID 10764144. doi:10.1038/sj.leu.2401692.
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. PMC 1221085 . PMID 10816441. doi:10.1042/0264-6021:3480447.
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. PMID 11894096. doi:10.1038/416187a.
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. PMID 12034747. doi:10.1074/jbc.M204019200.
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. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
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. PMID 14551139. doi:10.1182/blood-2003-07-2452.
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. PMID 14702039. doi:10.1038/ng1285.
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. PMID 15077184. doi:10.1038/sj.onc.1207402.
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. PMC 1134040 . PMID 15214844. doi:10.1042/BJ20040041.
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. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
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. PMID 15752756. doi:10.1016/j.bbrc.2005.02.075.
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. PMID 15944398. doi:10.1242/jcs.02383.
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. PMID 16115810. doi:10.1093/hmg/ddi321.
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. PMID 16169070. doi:10.1016/j.cell.2005.08.029.
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. PMID 16189514. doi:10.1038/nature04209.

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SH3GL1

References

Further reading