APPL1 - adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 Gene

中文名称：衔接蛋白，与 PH 结构域和亮氨酸拉链 1 相互作用的磷酸酪氨酸

种属: Homo sapiens

同用名: APPL; MODY14; DIP13alpha

基因 ID: 26060 | 基因类型: protein coding

关于 APPL1

Cytogenetic location: 3p14.3 Genomic coordinates (GRCh38): 3:57,227,729-57,273,471 (from NCBI)

This gene has 9 transcripts (splice variants), 210 orthologues, 28 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 14.2), ovary (RPKM 12.3) and 25 other tissues.

功能概要

该基因编码的蛋白质已被证明参与细胞增殖的调节，以及脂联素信号通路和胰岛素信号通路之间的串扰。编码的蛋白质结合许多其他蛋白质，包括 RAB5A、DCC、AKT2、PIK3CA、脂联素受体和 NuRD/MeCP1 复合物的蛋白质。这种蛋白质被发现与内体膜相关，但可以由 EGF 释放并转移到细胞核。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the Adiponectin signalling and Insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, Akt2, PIK3CA, Adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]

APPL1 基因产物(1)

mRNA	Protein	Name
NM_012096.3	NP_036228.1	DCC-interacting protein 13-alpha

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables beta-tubulin binding	IDA IDA: 通过直接分析推断	26583432	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	17502098	GOA
enables phosphatidylinositol binding	IDA IDA: 通过直接分析推断	18034774	GOA
enables phosphatidylserine binding	IDA IDA: 通过直接分析推断	18034774	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	10490823	GOA
enables protein homodimerization activity	IDA IDA: 通过直接分析推断	18034774	GOA
enables protein kinase B binding	IPI IPI: 通过物理相互作用推断	17848569	GOA
enables protein-containing complex binding	IPI IPI: 通过物理相互作用推断	15016378	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in adiponectin-activated signaling pathway	IMP IMP: 通过突变表型推断	19661063	GOA
involved in insulin receptor signaling pathway	IMP IMP: 通过突变表型推断	26073777	GOA
involved in maintenance of synapse structure	IDA IDA: 通过直接分析推断	21236345	GOA
involved in maintenance of synapse structure	IMP IMP: 通过突变表型推断	21236345	GOA
involved in positive regulation of D-glucose import	IMP IMP: 通过突变表型推断	24879834	GOA
involved in positive regulation of melanin biosynthetic process	IMP IMP: 通过突变表型推断	21291857	GOA
involved in protein import into nucleus	IDA IDA: 通过直接分析推断	26583432	GOA
involved in regulation of D-glucose import	IMP IMP: 通过突变表型推断	17848569	GOA
involved in regulation of G1/S transition of mitotic cell cycle	IDA IDA: 通过直接分析推断	15016378	GOA
involved in regulation of protein localization to plasma membrane	IMP IMP: 通过突变表型推断	17848569	GOA
involved in transforming growth factor beta receptor signaling pathway	IMP IMP: 通过突变表型推断	26583432	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	19433865	GOA
located in cytoplasmic vesicle	IDA IDA: 通过直接分析推断	18034774	GOA
located in cytosol	IDA IDA: 通过直接分析推断	17848569	GOA
located in early endosome	IDA IDA: 通过直接分析推断	21645192	GOA
located in endosome	IDA IDA: 通过直接分析推断	26583432	GOA
located in endosome membrane	IDA IDA: 通过直接分析推断	15016378	GOA
is active in glutamatergic synapse	IDA IDA: 通过直接分析推断	21236345	GOA
is active in glutamatergic synapse	IMP IMP: 通过突变表型推断	21236345	GOA
located in intracellular vesicle	IDA IDA: 通过直接分析推断	21291857	GOA
located in membrane	IDA IDA: 通过直接分析推断	18034774	GOA
located in nucleus	IDA IDA: 通过直接分析推断	15016378	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	18034774	GOA
located in vesicle membrane	IDA IDA: 通过直接分析推断	17848569	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

APPL1 蛋白结构

PID

0
200
400
600
709 a.a.

蛋白主名

其他名称

DCC-interacting protein 13-alpha

AKT2 interactor

APPL1 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
Intra	APPL1	Q9UKG1	PNMA5	Homo sapiens	Q96PV4	Y2H Prey Pooling	32296183
Intra	APPL1	Q9UKG1	PNMA5	Homo sapiens	Q96PV4	Y2H Array	32296183
Intra	APPL1	Q9UKG1	MAGEA9	Homo sapiens	P43362	Validated Y2H	25416956
Intra	APPL1	Q9UKG1	RAB21	Homo sapiens	Q9UL25	Pull Down	17581628
Intra	APPL1	Q9UKG1	TP53BP2	Homo sapiens	Q05BL1	Y2H Prey Pooling	32296183
Intra	APPL1	Q9UKG1	TP53BP2	Homo sapiens	Q05BL1	Y2H Array	32296183
Intra	APPL1	Q9UKG1	RTCB	Homo sapiens	Q9Y3I0	Validated Y2H	25814554
Intra	APPL1	Q9UKG1	RTCB	Homo sapiens	Q9Y3I0	Lumier	25814554
Intra	APPL1	Q9UKG1	UBE2O	Homo sapiens	Q9C0C9	Validated Y2H	25416956
Intra	APPL1	Q9UKG1	UBE2O	Homo sapiens	Q9C0C9	Y2H Array	25416956
Intra	APPL1	Q9UKG1	UBE2O	Homo sapiens	Q9C0C9	Y2H Array	32296183
Intra	APPL1	Q9UKG1	UBE2O	Homo sapiens	Q9C0C9	Y2H Prey Pooling	32296183
Intra	APPL1	Q9UKG1	FARS2	Homo sapiens	O95363	Validated Y2H	25416956
Intra	APPL1	Q9UKG1	FARS2	Homo sapiens	O95363	Y2H Array	25416956
Intra	APPL1	Q9UKG1	MEOX1	Homo sapiens	P50221	Y2H Prey Pooling	25416956
Intra	APPL1	Q9UKG1	EGFR	Homo sapiens	P00533	Protein Array	16273093
Intra	APPL1	Q9UKG1	DST	Homo sapiens	Q03001	Y2H Fragment Pooling	23414517
Intra	APPL1	Q9UKG1	ZNF830	Homo sapiens	Q96NB3	Anti Tag CoIP	33961781
Intra	APPL1	Q9UKG1	ZNF830	Homo sapiens	Q96NB3	Anti Tag CoIP	28514442
Intra	APPL1	Q9UKG1	RAB5A	Homo sapiens	P20339	Y2H Prey Pooling	32296183
Intra	APPL1	Q9UKG1	RAB5A	Homo sapiens	P20339	Y2H	18034774
Intra	APPL1	Q9UKG1	RAB5A	Homo sapiens	P20339	Pull Down	17581628
Intra	APPL1	Q9UKG1	RAB5A	Homo sapiens	P20339	Y2H Array	32296183
Intra	APPL1	Q9UKG1	RAB5A	Homo sapiens	P20339	SPR	17581628
Intra	APPL1	Q9UKG1	RAB5A	Homo sapiens	P20339	IF	18034774
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	IF	18034774
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	Y2H	18034774
Intra	APPL1	Q9UKG1	APPL1	Homo sapiens	Q9UKG1	Y2H	17502098
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	Validated Y2H	25416956
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	Y2H Prey Pooling	32296183
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	Anti Tag CoIP	35271311
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	Y2H Array	32296183
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	Y2H Array	25416956
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	Anti Tag CoIP	33961781
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	Y2H Pooling	16189514
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	Y2H Array	31515488
Intra	APPL1	Q9UKG1	APPL2	Homo sapiens	Q8NEU8	Anti Tag CoIP	18034774
Intra	APPL1	Q9UKG1	RHEBL1	Homo sapiens	Q8TAI7	Y2H Prey Pooling	25416956
Cross	APPL1	Q9UKG1	Adipor1	Mus musculus	Q91VH1	Y2H	16622416

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

Maturity-Onset Diabetes Of The Young, Type 14

Maturity-Onset Diabetes Of The Young Type 14	MODY14
Maturity-Onset Diabetes Of The Young 14	Diabetes Of The Young, Maturity-Onset, Type 14

Maturity-Onset Diabetes Of The Young

MODY	Maturity Onset Diabetes Mellitus In Young
Mason-Type Diabetes	Mason Type Diabetes
Maturity Onset Diabetes Of The Young	Mody Syndrome
Diabetes Of The Young, Maturity-Onset

Maturity-Onset Diabetes Of The Young, Type 13

Maturity-Onset Diabetes Of The Young Type 13	MODY13
Mody Type 13	Mody, Type 13
Maturity-Onset Diabetes Of The Young 13	Diabetes Of The Young, Maturity-Onset, Type 13

Maturity-Onset Diabetes Of The Young, Type 11

Maturity-Onset Diabetes Of The Young Type 11	MODY11
Maturity-Onset Diabetes Of The Young 11	Mody-11
Mody Type 11	Diabetes Of The Young, Maturity-Onset, Type 11

Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction

Maturity-Onset Diabetes Of The Young Type 8	MODY8
Dped	Maturity-Onset Diabetes Of The Young, Type Viii
Mody Type 8	Diabetes And Pancreatic Exocrine Dysfunction
Diabetes-Pancreatic Exocrine Dysfunction Syndrome	Diabetes And Pancreatic Exocrine
Maturity-Onset Diabetes Of The Young Type 8 With Exocrine Dysfunction	Maturity-Onset Diabetes Of The Young 8 With Exocrine Dysfunction
Diabetes And Pancreatic Exocrine Dysfunction Syndrome	Mody-8
Diabetes Of The Young, Maturity-Onset, Type 8

Maturity-Onset Diabetes Of The Young, Type 7

Maturity-Onset Diabetes Of The Young Type 7	MODY7
Maturity-Onset Diabetes Of The Young, Type Vii	Maturity-Onset Diabetes Of The Young 7
Mody-7	Mody Type 7
Diabetes Of The Young, Maturity-Onset, Type 7

Maturity-Onset Diabetes Of The Young, Type 9

Maturity-Onset Diabetes Of The Young Type 9	MODY9
Maturity-Onset Diabetes Of The Young, Type Ix	Maturity-Onset Diabetes Of The Young 9
Mody-9	Mody Type 9
Diabetes Of The Young, Maturity-Onset, Type 9

Maturity-Onset Diabetes Of The Young, Type 10

Maturity-Onset Diabetes Of The Young Type 10	MODY10
Maturity-Onset Diabetes Of The Young 10	Mody-10
Mody Type 10	Diabetes Of The Young, Maturity-Onset, Type 10

Lowe Oculocerebrorenal Syndrome

Lowe Syndrome	Oculocerebrorenal Syndrome
OCRL	Oculocerebrorenal Syndrome Of Lowe
Ocrl1	Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
Lowe Disease	Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency
Cerebrooculorenal Syndrome	Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency
Lowe Oculo-Cerebro-Renal Dystrophy	Lowe Oculo-Cerebro-Renal Syndrome
Lowe Oculocerebrorenal Dystrophy	Low
Chromosome 11p Deletion Syndrome	Oculocerebrorenal Dystrophy
Cerebro-Oculorenal Dystrophy	Ocrl1 - [Oculocerebrorenal Syndrome]
Lowe-Terrey-Maclachlan Syndrome	Renal-Oculocerebrodystrophy

Maturity-Onset Diabetes Of The Young, Type 6

MODY6	Maturity-Onset Diabetes Of The Young Type 6
Maturity-Onset Diabetes Of The Young 6	Mody Type 6
Mody, Type 6	Mody-6
Diabetes Of The Young, Maturity-Onset, Type 6

Maturity-Onset Diabetes Of The Young, Type 1

Maturity-Onset Diabetes Of The Young Type 1	MODY1
Mild Juvenile Diabetes Mellitus	Mody, Type I
Diabetes Mellitus Type 2	Mody Type 1
Mody, Type 1	Maturity-Onset Diabetes Of The Young 1
Mody-1	Diabetes Of The Young, Maturity-Onset, Type 1

Maturity-Onset Diabetes Of The Young, Type 2

Maturity-Onset Diabetes Of The Young Type 2	MODY2
Mody Glucokinase-Related	Mody Type 2
Mody, Type 2	Mody, Glucokinase-Related
Mody, Type Ii	Maturity-Onset Diabetes Of The Young 2
Mody-2	Diabetes Of The Young, Maturity-Onset, Type 2
Diabetes Mellitus Autosomal Dominant Type Ii

Maturity-Onset Diabetes Of The Young, Type 3

Maturity-Onset Diabetes Of The Young Type 3	MODY3
Mody, Type Iii	Mody Type 3
Mody, Type 3	Maturity-Onset Diabetes Of The Young 3
Mody-3	Diabetes Of The Young, Maturity-Onset, Type 3

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

Diabetes Mellitus

Diabetes

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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-RS00867	APPL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	APPL1	VGNC	VGNC:38012
Rattus norvegicus	APPL1	RGD	RGD:1309388
Bos taurus	APPL1	VGNC	VGNC:26040
Mus musculus	APPL1	MGD	MGI:1920243
Felis catus	APPL1	VGNC	VGNC:59856

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