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

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

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as EEN; CNSA1; SH3P8; SH3D2B

Gene ID: 6455 | Gene type: protein coding

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 Reference 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 Reference 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

BAR: BAR domain (6 - 241)

SH3_1

SH3_1: SH3 domain (312 - 356)

  • 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 Reference
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

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS12836 SH3GL1 Human Pre-designed siRNA Set A Pre-designed Sets / 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