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

中文名称：含 SH3 结构域的 GRB2 样 1、嗜内源性蛋白 A2

种属: Homo sapiens

同用名: EEN; CNSA1; SH3P8; SH3D2B

基因 ID: 6455 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 Src 同源 3 结构域蛋白的内皮蛋白家族成员。编码的蛋白质参与内吞作用，也可能在细胞周期中发挥作用。该基因的过度表达可能在白血病发生中发挥作用，并且编码的蛋白质作为髓样-淋巴样白血病蛋白的融合伙伴与急性髓样白血病有关。该基因的假基因位于 11 号和 17 号染色体的长臂上。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2011 年 1 月]

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 基因产物(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

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables identical protein binding	IPI IPI: 通过物理相互作用推断	16115810	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16115810	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	25468996	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SH3GL1 蛋白结构

BAR

SH3_1

0
100
200
300
368 a.a.

蛋白主名

其他名称

endophilin-A2

EEN fusion partner of MLL

SH3GL1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	SH3GL1	Q99961	FAM22F	Homo sapiens	B7ZLH0	Y2H Prey Pooling	32296183
种属内	SH3GL1	Q99961	FAM22F	Homo sapiens	B7ZLH0	Y2H Array	32296183
种属内	SH3GL1	Q99961	CMTM5	Homo sapiens	Q96DZ9-2	Y2H Prey Pooling	32296183
种属内	SH3GL1	Q99961	CMTM5	Homo sapiens	Q96DZ9-2	Y2H Array	32296183
种属内	SH3GL1	Q99961	PRB3	Homo sapiens	Q04118	Y2H Array	32296183
种属内	SH3GL1	Q99961	PRB3	Homo sapiens	Q04118	Y2H Prey Pooling	32296183
种属内	SH3GL1	Q99961	PRR5-ARHGAP8	Homo sapiens	B1AHC3	Y2H Prey Pooling	32296183
种属内	SH3GL1	Q99961	PRR5-ARHGAP8	Homo sapiens	B1AHC3	Y2H Array	32296183
种属内	SH3GL1	Q99961	RHEX	Homo sapiens	Q6ZWK4	Y2H Prey Pooling	32296183
种属内	SH3GL1	Q99961	RHEX	Homo sapiens	Q6ZWK4	Y2H Array	32296183
种属内	SH3GL1	Q99961	VPS37C	Homo sapiens	A5D8V6	Validated Y2H	32296183
种属内	SH3GL1	Q99961	SCAMP5	Homo sapiens	Q8TAC9	Y2H Prey Pooling	32296183
种属内	SH3GL1	Q99961	SCAMP5	Homo sapiens	Q8TAC9	Y2H Array	32296183
种属内	SH3GL1	Q99961	SH3GL3	Homo sapiens	Q99963	Y2H Pooling	16169070
种属内	SH3GL1	Q99961	SH3GL3	Homo sapiens	Q99963	Y2H	21900206
种属内	SH3GL1	Q99961	SH3GL3	Homo sapiens	Q99963	Y2H	16115810
种属内	SH3GL1	Q99961	SH3GL3	Homo sapiens	Q99963	Anti Tag CoIP	35271311
种属内	SH3GL1	Q99961	ARHGAP1	Homo sapiens	Q07960	Y2H Prey Pooling	32296183
种属内	SH3GL1	Q99961	ARHGAP1	Homo sapiens	Q07960	Y2H Array	32296183
种属内	SH3GL1	Q99961	SH3GL1	Homo sapiens	Q99961	Y2H	16115810
种属内	SH3GL1	Q99961	DPPA4	Homo sapiens	Q7L190	Pull Down	16169070
种属内	SH3GL1	Q99961	DPPA4	Homo sapiens	Q7L190	Y2H	21900206
种属内	SH3GL1	Q99961	DPPA4	Homo sapiens	Q7L190	Y2H Pooling	16169070
种属内	SH3GL1	Q99961	SH3GL2	Homo sapiens	Q99962	Y2H	16115810
种属内	SH3GL1	Q99961	SH3GL1	Homo sapiens	Q99961	Y2H Prey Pooling	32296183
种属内	SH3GL1	Q99961	SH3GL1	Homo sapiens	Q99961	Validated Y2H	32296183
种属内	SH3GL1	Q99961	SH3GL1	Homo sapiens	Q99961	Y2H	21900206
种属内	SH3GL1	Q99961	SH3GL1	Homo sapiens	Q99961	Y2H Array	32296183
种属内	SH3GL1	Q99961	SH3GL1	Homo sapiens	Q99961	Y2H Pooling	16189514
种属内	SH3GL1	Q99961	CCDC50	Homo sapiens	Q8IVM0	Y2H Prey Pooling	32296183
种属内	SH3GL1	Q99961	CCDC50	Homo sapiens	Q8IVM0	Y2H Array	32296183
种属内	SH3GL1	Q99961	SPG21	Homo sapiens	Q9NZD8	Validated Y2H	32296183
种属内	SH3GL1	Q99961	GPKOW	Homo sapiens	Q92917	Y2H	21516116
种属内	SH3GL1	Q99961	SH2D4A	Homo sapiens	Q9H788	Validated Y2H	32296183
种属内	SH3GL1	Q99961	SH2D4A	Homo sapiens	Q9H788	Y2H Pooling	16189514
种属内	SH3GL1	Q99961	SH3GL2	Homo sapiens	Q99962	Y2H	21900206
种属内	SH3GL1	Q99961	SH3GL2	Homo sapiens	Q99962	Anti Tag CoIP	35271311
种属内	SH3GL1	Q99961	MAL2	Homo sapiens	Q969L2	Y2H Array	32296183
种属内	SH3GL1	Q99961	MAL2	Homo sapiens	Q969L2	Y2H Prey Pooling	32296183
种属内	SH3GL1	Q99961	ARHGAP8	Homo sapiens	P85298-4	Y2H Array	32296183
种属内	SH3GL1	Q99961	ARHGAP8	Homo sapiens	P85298-4	Y2H Prey Pooling	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS12836	SH3GL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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