SH3GL3 - SH3 domain containing GRB2 like 3, endophilin A3 Gene

Also Known as CNSA3; EEN-B2; SH3D2C; SH3P13; HsT19371

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6457

About SH3GL3

Cytogenetic location: 15q25.2 Genomic coordinates (GRCh38): 15:83,447,341-83,633,820 (from NCBI)

This gene has 6 transcripts (splice variants), 236 orthologues and 12 paralogues. Biased expression in testis (RPKM 8.3), brain (RPKM 5.2) and 1 other tissue.

Summary

Enables identical protein binding activity. Predicted to be involved in synaptic vesicle uncoating. Predicted to be located in acrosomal vesicle; early endosome membrane; and presynapse. Predicted to be part of early endosome. Predicted to be active in glutamatergic synapse; postsynaptic density, intracellular component; and postsynaptic endosome. [provided by Alliance of Genome Resources, Apr 2022]

SH3GL3 Products (9)

mRNA	Protein	Name
NM_001301108.2	NP_001288037.1	endophilin-A3 isoform b
NM_001301109.2	NP_001288038.1	endophilin-A3 isoform c
NM_001324182.2	NP_001311111.1	endophilin-A3 isoform d
NM_001324183.2	NP_001311112.1	endophilin-A3 isoform c
NM_001324184.2	NP_001311113.1	endophilin-A3 isoform e
NM_001324185.2	NP_001311114.1	endophilin-A3 isoform b
NM_001324186.2	NP_001311115.1	endophilin-A3 isoform e
NM_001324187.1	NP_001311116.1	endophilin-A3 isoform b
NM_003027.5	NP_003018.3	endophilin-A3 isoform a

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Verweise	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	16115810	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15383276	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SH3GL3 Protein Structure

BAR

SH3_9

0
100
200
300
347 a.a.

Protein Preferred Names	Protein Names
endophilin-A3	SH3 domain containing GRB2 like endophilin A3

SH3GL3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	SH3GL3	Q99963	RAPH1	Homo sapiens	Q70E73	Pull Down	24076656
Intra	SH3GL3	Q99963	RAPH1	Homo sapiens	Q70E73	IF	24076656
Intra	SH3GL3	Q99963	HTT	Homo sapiens	P42858	Y2H	16115810
Intra	SH3GL3	Q99963	HTT	Homo sapiens	P42858	NMR	17161366
Intra	SH3GL3	Q99963	HTT	Homo sapiens	P42858	Y2H	15383276
Intra	SH3GL3	Q99963	ATXN2	Homo sapiens	Q99700	Anti Tag CoIP	16115810
Intra	SH3GL3	Q99963	SH3GL1	Homo sapiens	Q99961	Anti Tag CoIP	33961781
Intra	SH3GL3	Q99963	ATXN2	Homo sapiens	Q99700	Pull Down	18602463
Intra	SH3GL3	Q99963	ATXN2	Homo sapiens	Q99700	Y2H	16115810
Intra	SH3GL3	Q99963	SH3GL1	Homo sapiens	Q99961	Y2H	16115810
Intra	SH3GL3	Q99963	SH3GL2	Homo sapiens	Q99962	Y2H	16115810

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Fragile X Syndrome	FXS Martin-Bell Syndrome Fraxa Syndrome Marker X Syndrome X-Linked Mental Retardation And Macroorchidism Fragile X Mental Retardation Syndrome Fra Syndrome Mental Retardation, X-Linked, Associated With Marxq28 X-Linked Intellectual Disability And Macroorchidism Frax Syndrome Symptomatic Form Of Fragile X Syndrome In Female Carriers Fragile-X Syndrome Fraxe Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS12838	SH3GL3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21932	Sh3gl3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SH3GL3	VGNC	VGNC:65108
Bos taurus	SH3GL3	VGNC	VGNC:34574
Mus musculus	SH3GL3	MGD	MGI:700011
Canis familiaris	SH3GL3	VGNC	VGNC:46126
Rattus norvegicus	SH3GL3	RGD	RGD:620578
Macaca mulatta	SH3GL3	VGNC	VGNC:77205
Others	SH3GL3	NCBI