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SH3GL1 - SH3 domain containing GRB2 like 1, endophilin A2 Gene

Also Known as EEN; CNSA1; SH3P8; SH3D2B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6455

About SH3GL1

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:4,360,370-4,400,547 (from NCBI)

This gene has 6 transcripts (splice variants), 280 orthologues, 12 paralogues and is associated with 57 phenotypes. Ubiquitous expression in esophagus (RPKM 47.4), placenta (RPKM 27.1) and 25 other tissues.

Summary

This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

SH3GL1 Products (3)

mRNA	Protein	Name
NM_001199943.2	NP_001186872.1	endophilin-A2 isoform 2
NM_001199944.2	NP_001186873.1	endophilin-A2 isoform 3
NM_003025.4	NP_003016.1	endophilin-A2 isoform 1

Gene Ontology

Molecular Function
Cellular Component

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

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	25468996	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

SH3GL1 Protein Structure

BAR

SH3_1

0
100
200
300
368 a.a.

Protein Preferred Names	Protein Names
endophilin-A2	EEN fusion partner of MLL

SH3GL1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SH3GL1	Q99961	FAM22F	Homo sapiens	B7ZLH0	Y2H Prey Pooling	32296183
Intra	SH3GL1	Q99961	FAM22F	Homo sapiens	B7ZLH0	Y2H Array	32296183
Intra	SH3GL1	Q99961	CMTM5	Homo sapiens	Q96DZ9-2	Y2H Prey Pooling	32296183
Intra	SH3GL1	Q99961	CMTM5	Homo sapiens	Q96DZ9-2	Y2H Array	32296183
Intra	SH3GL1	Q99961	PRB3	Homo sapiens	Q04118	Y2H Array	32296183
Intra	SH3GL1	Q99961	PRB3	Homo sapiens	Q04118	Y2H Prey Pooling	32296183
Intra	SH3GL1	Q99961	PRR5-ARHGAP8	Homo sapiens	B1AHC3	Y2H Prey Pooling	32296183
Intra	SH3GL1	Q99961	PRR5-ARHGAP8	Homo sapiens	B1AHC3	Y2H Array	32296183
Intra	SH3GL1	Q99961	RHEX	Homo sapiens	Q6ZWK4	Y2H Prey Pooling	32296183
Intra	SH3GL1	Q99961	RHEX	Homo sapiens	Q6ZWK4	Y2H Array	32296183
Intra	SH3GL1	Q99961	VPS37C	Homo sapiens	A5D8V6	Validated Y2H	32296183
Intra	SH3GL1	Q99961	SCAMP5	Homo sapiens	Q8TAC9	Y2H Prey Pooling	32296183
Intra	SH3GL1	Q99961	SCAMP5	Homo sapiens	Q8TAC9	Y2H Array	32296183
Intra	SH3GL1	Q99961	SH3GL3	Homo sapiens	Q99963	Y2H Pooling	16169070
Intra	SH3GL1	Q99961	SH3GL3	Homo sapiens	Q99963	Y2H	21900206
Intra	SH3GL1	Q99961	SH3GL3	Homo sapiens	Q99963	Y2H	16115810
Intra	SH3GL1	Q99961	SH3GL3	Homo sapiens	Q99963	Anti Tag CoIP	35271311
Intra	SH3GL1	Q99961	ARHGAP1	Homo sapiens	Q07960	Y2H Prey Pooling	32296183
Intra	SH3GL1	Q99961	ARHGAP1	Homo sapiens	Q07960	Y2H Array	32296183
Intra	SH3GL1	Q99961	SH3GL1	Homo sapiens	Q99961	Y2H	16115810
Intra	SH3GL1	Q99961	DPPA4	Homo sapiens	Q7L190	Pull Down	16169070
Intra	SH3GL1	Q99961	DPPA4	Homo sapiens	Q7L190	Y2H	21900206
Intra	SH3GL1	Q99961	DPPA4	Homo sapiens	Q7L190	Y2H Pooling	16169070
Intra	SH3GL1	Q99961	SH3GL2	Homo sapiens	Q99962	Y2H	16115810
Intra	SH3GL1	Q99961	SH3GL1	Homo sapiens	Q99961	Y2H Prey Pooling	32296183
Intra	SH3GL1	Q99961	SH3GL1	Homo sapiens	Q99961	Validated Y2H	32296183
Intra	SH3GL1	Q99961	SH3GL1	Homo sapiens	Q99961	Y2H	21900206
Intra	SH3GL1	Q99961	SH3GL1	Homo sapiens	Q99961	Y2H Array	32296183
Intra	SH3GL1	Q99961	SH3GL1	Homo sapiens	Q99961	Y2H Pooling	16189514
Intra	SH3GL1	Q99961	CCDC50	Homo sapiens	Q8IVM0	Y2H Prey Pooling	32296183
Intra	SH3GL1	Q99961	CCDC50	Homo sapiens	Q8IVM0	Y2H Array	32296183
Intra	SH3GL1	Q99961	SPG21	Homo sapiens	Q9NZD8	Validated Y2H	32296183
Intra	SH3GL1	Q99961	GPKOW	Homo sapiens	Q92917	Y2H	21516116
Intra	SH3GL1	Q99961	SH2D4A	Homo sapiens	Q9H788	Validated Y2H	32296183
Intra	SH3GL1	Q99961	SH2D4A	Homo sapiens	Q9H788	Y2H Pooling	16189514
Intra	SH3GL1	Q99961	SH3GL2	Homo sapiens	Q99962	Y2H	21900206
Intra	SH3GL1	Q99961	SH3GL2	Homo sapiens	Q99962	Anti Tag CoIP	35271311
Intra	SH3GL1	Q99961	MAL2	Homo sapiens	Q969L2	Y2H Array	32296183
Intra	SH3GL1	Q99961	MAL2	Homo sapiens	Q969L2	Y2H Prey Pooling	32296183
Intra	SH3GL1	Q99961	ARHGAP8	Homo sapiens	P85298-4	Y2H Array	32296183
Intra	SH3GL1	Q99961	ARHGAP8	Homo sapiens	P85298-4	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

SH3GL1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84759	SH3GL1 Antibody (YA4456)	WB, ELISA	Human, Rat
HY-P84759A	SH3GL1 Antibody (YA4456)(PBS only)	WB, ELISA	Human, Rat

Related Diseases

Diseases	Alias
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Leukemia	Leukemias Leukaemia, Unspecified, Without Mention Of Remission Aleukemic Leukaemia Chronic Leukaemia Subacute Leukaemia Leukaemia Disorder Leukaemia Nos
Clear Cell Hidradenoma	Clear Cell Myoepithelioma Eccrine Acrospiroma
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
Retinal Arteries, Tortuosity Of	Retinal Arterial Tortuosity Retinal Hemorrhage With Vascular Tortuosity RATOR Tortuosity Of Retinal Arteries Retinal Arteriolar Tortuosity Familial Isolated Retinal Arterial Tortuosity Tortuosity, Arteries, Retinal
Scoliosis
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12836	SH3GL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SH3GL1	MGD	MGI:700010
Rattus norvegicus	SH3GL1	RGD	RGD:708456
Felis catus	SH3GL1	VGNC	VGNC:65106
Bos taurus	SH3GL1	VGNC	VGNC:34572
Canis familiaris	SH3GL1	VGNC	VGNC:46124
Others	SH3GL1	NCBI