SH3GL1

Protein-coding gene in the species Homo sapiens
SH3GL1
Identifiers
AliasesSH3GL1, CNSA1, EEN, SH3D2B, SH3P8, SH3 domain containing GRB2 like 1, endophilin A2
External IDsOMIM: 601768; MGI: 700010; HomoloGene: 55709; GeneCards: SH3GL1; OMA:SH3GL1 - orthologs
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for SH3GL1
Genomic location for SH3GL1
Band19p13.3Start4,360,370 bp[1]
End4,400,547 bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for SH3GL1
Genomic location for SH3GL1
Band17 D|17 29.11 cMStart56,323,750 bp[2]
End56,343,635 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 17: 56.32 – 56.34 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000141985 – Ensembl, May 2017
  2. ^ a b c 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.
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