SH3GL3

Protein-coding gene in the species Homo sapiens

SH3GL3

Available structures

PDB

Ortholog search: PDBe RCSB

List of PDB id codes
2EW3, 2Z0V

Identifiers

Aliases

SH3GL3, CNSA3, EEN-B2, HsT19371, SH3D2C, SH3P13, SH3 domain containing GRB2 like endophilin A3, SH3 domain containing GRB2 like 3, endophilin A3

External IDs

OMIM: 603362; MGI: 700011; HomoloGene: 37723; GeneCards: SH3GL3; OMA:SH3GL3 - orthologs

Gene location (Human)

Chr.	Chromosome 15 (human)^[1]

Band	15q25.2	Start	83,447,228 bp^[1]
Band	15q25.2	End	83,618,743 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 7 (mouse)^[2]

Band	7 D3\|7 47.15 cM	Start	82,173,840 bp^[2]
Band	7 D3\|7 47.15 cM	End	82,307,419 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

sperm

middle frontal gyrus

corpus callosum

C1 segment

Brodmann area 10

Brodmann area 46

hippocampus proper

Region I of hippocampus proper

left testis

substantia nigra

Top expressed in

spermatocyte

spermatid

superior cervical ganglion

seminiferous tubule

nucleus accumbens

optic nerve

barrel cortex

ventromedial nucleus

motor neuron

olfactory tubercle

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	protein binding identical protein binding lipid binding protein C-terminus binding
Cellular component	cytoplasm endosome early endosome early endosome membrane membrane acrosomal vesicle synapse presynapse postsynaptic endosome glutamatergic synapse postsynaptic density, intracellular component
Biological process	central nervous system development endocytosis signal transduction positive regulation of neuron differentiation negative regulation of clathrin-dependent endocytosis regulation of clathrin-dependent endocytosis
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


6457


20408

Ensembl


ENSG00000140600


ENSMUSG00000030638

UniProt


Q99963


Q62421

RefSeq (mRNA)

NM_001301108 NM_001301109 NM_003027 NM_001324182 NM_001324183
NM_001324184 NM_001324185 NM_001324186 NM_001324187


NM_001277954 NM_001277955 NM_017400

RefSeq (protein)

NP_001288037 NP_001288038 NP_001311111 NP_001311112 NP_001311113
NP_001311114 NP_001311115 NP_001311116 NP_003018


NP_001264883 NP_001264884 NP_059096

Location (UCSC)

Chr 15: 83.45 – 83.62 Mb

Chr 7: 82.17 – 82.31 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Endophilin-A3 is a protein that in humans is encoded by the SH3GL3 gene.^[5]^[6]

Interactions

SH3GL3 has been shown to interact with Huntingtin^[7] and SH3KBP1.^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000140600 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000030638 – 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 (July 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: SH3GL3 SH3-domain GRB2-like 3".
^ Sittler A, Wälter S, Wedemeyer N, Hasenbank R, Scherzinger E, Eickhoff H, Bates GP, Lehrach H, Wanker EE (October 1998). "SH3GL3 associates with the Huntingtin exon 1 protein and promotes the formation of polygln-containing protein aggregates". Mol. Cell. 2 (4): 427–36. doi:10.1016/S1097-2765(00)80142-2. PMID 9809064.
^ Petrelli A, Gilestro GF, Lanzardo S, Comoglio PM, Migone N, Giordano S (March 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.

So CW, Caldas C, Liu MM, Chen SJ, Huang QH, Gu LJ, Sham MH, Wiedemann LM, Chan LC (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.
Sittler A, Wälter S, Wedemeyer N, Hasenbank R, Scherzinger E, Eickhoff H, Bates GP, Lehrach H, Wanker EE (1998). "SH3GL3 associates with the Huntingtin exon 1 protein and promotes the formation of polygln-containing protein aggregates". Mol. Cell. 2 (4): 427–36. doi:10.1016/S1097-2765(00)80142-2. PMID 9809064.
Tang Y, Hu LA, Miller WE, Ringstad N, Hall RA, Pitcher JA, DeCamilli P, Lefkowitz RJ (1999). "Identification of the endophilins (SH3p4/p8/p13) as novel binding partners for the beta1-adrenergic receptor". Proc. Natl. Acad. Sci. U.S.A. 96 (22): 12559–64. Bibcode:1999PNAS...9612559T. doi:10.1073/pnas.96.22.12559. PMC 22990. PMID 10535961.
Cestra G, Castagnoli L, Dente L, Minenkova O, Petrelli A, Migone N, Hoffmüller U, Schneider-Mergener J, Cesareni G (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, Chew SL, Sham MH, Chan LC (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, Cheung N, So CK, Chung SK, Caldas C, Wiedemann LM, Chan LC (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, Comoglio PM, Migone N, Giordano S (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, Torch S, Missotten M, Sadoul R (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.
Verdier F, Valovka T, Zhyvoloup A, Drobot LB, Buchman V, Waterfield M, Gout I (2002). "Ruk is ubiquitinated but not degraded by the proteasome". Eur. J. Biochem. 269 (14): 3402–8. doi:10.1046/j.1432-1033.2002.03031.x. PMID 12135478.
Szymkiewicz I, Kowanetz K, Soubeyran P, Dinarina A, Lipkowitz S, Dikic I (2002). "CIN85 participates in Cbl-b-mediated down-regulation of receptor tyrosine kinases". J. Biol. Chem. 277 (42): 39666–72. doi:10.1074/jbc.M205535200. PMID 12177062.
Otsuki M, Itoh T, Takenawa T (2003). "Neural Wiskott-Aldrich syndrome protein is recruited to rafts and associates with endophilin A in response to epidermal growth factor". J. Biol. Chem. 278 (8): 6461–9. doi:10.1074/jbc.M207433200. PMID 12477732.
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.
Goehler H, Lalowski M, Stelzl U, Waelter S, Stroedicke M, Worm U, Droege A, Lindenberg KS, Knoblich M, Haenig C, Herbst M, Suopanki J, Scherzinger E, Abraham C, Bauer B, Hasenbank R, Fritzsche A, Ludewig AH, Büssow K, Buessow K, Coleman SH, Gutekunst CA, Landwehrmeyer BG, Lehrach H, Wanker EE (2004). "A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease". Mol. Cell. 15 (6): 853–65. doi:10.1016/j.molcel.2004.09.016. PMID 15383276.
Trevaskis J, Walder K, Foletta V, Kerr-Bayles L, McMillan J, Cooper A, Lee S, Bolton K, Prior M, Fahey R, Whitecross K, Morton GJ, Schwartz MW, Collier GR (2005). "Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1, a novel neuronal protein that regulates energy balance". Endocrinology. 146 (9): 3757–64. doi:10.1210/en.2005-0282. hdl:10536/DRO/DU:30009269. PMID 15919751.
Ralser M, Nonhoff U, Albrecht M, Lengauer T, Wanker EE, Lehrach H, Krobitsch S (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, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (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.
Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569.