PICALM - phosphatidylinositol binding clathrin assembly protein Gene

中文名称：磷脂酰肌醇结合网格蛋白组装蛋白

种属: Homo sapiens

同用名: LAP; CALM; CLTH

基因 ID: 8301 | 基因类型: protein coding

关于 PICALM

Cytogenetic location: 11q14.2 Genomic coordinates (GRCh38): 11:85,957,175-86,069,860 (from NCBI)

This gene has 24 transcripts (splice variants), 268 orthologues, 1 paralogue and is associated with 64 phenotypes. Ubiquitous expression in fat (RPKM 64.4), appendix (RPKM 52.9) and 25 other tissues.

功能概要

该基因编码一种网格蛋白组装蛋白，可将网格蛋白和衔接蛋白复合物 2 (AP2) 募集到包被坑形成和网格蛋白-囊泡组装位点的细胞膜上。可能需要蛋白质来确定要回收的膜的数量，这可能是通过调节网格蛋白笼的大小来实现的。该蛋白参与神经肌肉接头处 AP2 依赖性网格蛋白介导的内吞作用。导致该基因与 MLLT10 基因融合的染色体易位 t (10;11) (p13;q14) 见于急性淋巴细胞白血病、急性髓性白血病和恶性淋巴瘤。该基因的多态性与阿尔茨海默病的风险相关。已为该基因发现编码不同亚型的多个可变剪接转录物变体。[RefSeq 提供，2011 年 5 月]

This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

PICALM 基因产物(5)

mRNA	Protein	Name
NM_001008660.3	NP_001008660.1	phosphatidylinositol-binding clathrin assembly protein isoform 2
NM_001206946.2	NP_001193875.1	phosphatidylinositol-binding clathrin assembly protein isoform 3
NM_001206947.2	NP_001193876.1	phosphatidylinositol-binding clathrin assembly protein isoform 4
NM_001411034.1	NP_001397963.1	phosphatidylinositol-binding clathrin assembly protein isoform 5
NM_007166.4	NP_009097.2	phosphatidylinositol-binding clathrin assembly protein isoform 1

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 SNARE binding	IDA IDA: 通过直接分析推断	22118466	GOA
enables clathrin binding	IDA IDA: 通过直接分析推断	10436022	GOA
enables clathrin heavy chain binding	IDA IDA: 通过直接分析推断	10436022	GOA
enables low-density lipoprotein particle receptor binding	IPI IPI: 通过物理相互作用推断	26005850	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16262731	GOA
enables small GTPase binding	IPI IPI: 通过物理相互作用推断	26005850	GOA
enables tau protein binding	IPI IPI: 通过物理相互作用推断	23589030	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in amyloid-beta clearance by transcytosis	IGI IGI: 通过遗传相互作用推断	26005850	GOA
involved in clathrin coat assembly	IDA IDA: 通过直接分析推断	16262731	GOA
involved in clathrin coat assembly	IMP IMP: 通过突变表型推断	16262731	GOA
involved in clathrin-dependent endocytosis	IMP IMP: 通过突变表型推断	22952941	GOA
involved in endocytosis	IDA IDA: 通过直接分析推断	22118466	GOA
involved in endosomal transport	IMP IMP: 通过突变表型推断	16262731	GOA
involved in intracellular iron ion homeostasis	IMP IMP: 通过突变表型推断	22952941	GOA
involved in membrane bending	IMP IMP: 通过突变表型推断	25898166	GOA
involved in multicellular organismal-level iron ion homeostasis	IMP IMP: 通过突变表型推断	22952941	GOA
involved in negative regulation of gene expression	IMP IMP: 通过突变表型推断	22952941	GOA
involved in negative regulation of protein localization to cell surface	IMP IMP: 通过突变表型推断	21221849	GOA
involved in negative regulation of protein localization to plasma membrane	IMP IMP: 通过突变表型推断	21221849	GOA
involved in negative regulation of receptor-mediated endocytosis	IDA IDA: 通过直接分析推断	10436022	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: 通过直接分析推断	11425879	GOA
involved in positive regulation of Ras protein signal transduction	IMP IMP: 通过突变表型推断	26005850	GOA
involved in positive regulation of amyloid-beta formation	IMP IMP: 通过突变表型推断	24577224	GOA
involved in receptor internalization	IMP IMP: 通过突变表型推断	14985334	GOA
involved in receptor-mediated endocytosis	IDA IDA: 通过直接分析推断	10436022	GOA
involved in regulation of amyloid precursor protein catabolic process	IMP IMP: 通过突变表型推断	24577224	GOA
involved in regulation of endocytosis	IMP IMP: 通过突变表型推断	18182011	GOA
involved in regulation of protein localization	IDA IDA: 通过直接分析推断	10436022	GOA
involved in regulation of vesicle size	IMP IMP: 通过突变表型推断	25898166	GOA
involved in vesicle budding from membrane	IMP IMP: 通过突变表型推断	25898166	GOA
involved in vesicle cargo loading	IMP IMP: 通过突变表型推断	24577224	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cell surface	IDA IDA: 通过直接分析推断	26005850	GOA
part of clathrin coat of coated pit	IDA IDA: 通过直接分析推断	10436022	GOA
located in clathrin-coated pit	IDA IDA: 通过直接分析推断	10436022	GOA
located in clathrin-coated pit	IMP IMP: 通过突变表型推断	25898166	GOA
located in clathrin-coated vesicle	IMP IMP: 通过突变表型推断	25898166	GOA
located in early endosome	IDA IDA: 通过直接分析推断	26005850	GOA
located in endosome to plasma membrane transport vesicle	IDA IDA: 通过直接分析推断	26005850	GOA
located in neurofibrillary tangle	IMP IMP: 通过突变表型推断	23589030	GOA
located in neuronal cell body	IDA IDA: 通过直接分析推断	23589030	GOA
located in nucleus	IDA IDA: 通过直接分析推断	16491119	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	16262731	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

PICALM 蛋白结构

ANTH

0
100
200
300
400
500
600
652 a.a.

蛋白主名

其他名称

phosphatidylinositol-binding clathrin assembly protein

clathrin assembly lymphoid myeloid leukemia protein

PICALM 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	PICALM	Q13492	EPS15	Homo sapiens	P42566	Anti Tag CoIP	26496610
种属内	PICALM	Q13492	FHL2	Homo sapiens	Q14192	Confocal	22829078
种属内	PICALM	Q13492	FHL2	Homo sapiens	Q14192	Y2H	22829078
种属内	PICALM	Q13492	FHL2	Homo sapiens	Q14192	Anti Bait CoIP	22829078
种属内	PICALM	Q13492	FHL2	Homo sapiens	Q14192	Anti Tag CoIP	22829078

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

Precursor T-Cell Acute Lymphoblastic Leukemia

T-All	Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma
Precursor T-Cell Acute Lymphocytic Leukemia	Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Adult T-Cell Lymphoma/Leukemia

Myeloid Leukemia

Myeloid Leukaemia	Leukaemia Myelogenous
Leukemia Myelogenous	Myeloid Granulocytic Leukaemia
Myeloid Granulocytic Leukemia	Non-Lymphocytic Leukemia
Leukemia, Myeloid	Granulocytic Leukaemia
Myelogenous Leukaemia	Myeloid Leukaemia, Unspecified, Without Mention Of Remission

Leukemia

Leukemias	Leukaemia, Unspecified, Without Mention Of Remission
Aleukemic Leukaemia	Chronic Leukaemia
Subacute Leukaemia	Leukaemia Disorder
Leukaemia Nos

Discrete Subaortic Stenosis

Subvalvular Aortic Stenosis

Fixed Subaortic Stenosis	Subaortic Stenosis
Aortic Stenosis, Subvalvular

Leukemia, Acute Lymphoblastic

Acute Lymphoblastic Leukemia	ALL
Acute Lymphocytic Leukemia	Leukemia, Acute Lymphocytic, Susceptibility To, 1
Acute Lymphoblastic Leukaemia	Precursor Lymphoblastic Lymphoma/Leukemia
Precursor Lymphoid Neoplasm	Leukemia, Acute Lymphoblastic, Susceptibility To
B-Cell Acute Lymphoblastic Leukemia	Leukemia, Acute Lymphocytic 1
Acute Lymphocytic Leukaemia	Acute Lymphoblastic Leukemia/Lymphoma
All1	Childhood Acute Lymphoblastic Leukemia
Leukemia Acute Lymphoblastic 1	Leukemia Acute Lymphoblastic B-Hyperdiploid
Leukemia Acute Lymphocytic	Leukemia Acute Lymphocytic 1
Leukemia B-Cell Acute Lymphoblastic	Leukemia T-Cell Acute Lymphoblastic
Leukemia, Acute Lymphoblastic, 3	ALL3
Lymphoblastic Leukemia Acute	Leukemia, Acute, Lymphoblastic
Precursor Cell Lymphoblastic Leukemia Lymphoma	Leukemia, Lymphocytic, Acute, L1
Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Alzheimer'S Disease 1

Alzheimer Disease Type 1

Alzheimer'S Disease 1, Early Onset

Hematologic Cancer

Hematologic Neoplasm	Hematologic Neoplasms
Hematologic Malignancies	Blood Cancer
Hematologic Malignancy	Hematological Tumors
Hematopoietic And Lymphoid System Tumor	Hematopoietic Cancer
Hematopoietic Neoplasm	Hematopoietic Tumors
Malignant Hematopoietic Neoplasm	Liquid Tumor
Hematopoietic Neoplasms

Alzheimer Disease 4

AD4	Alzheimer Disease-4
Alzheimer'S Disease 4	Alzheimer Disease, Familial, 4
Alzheimer Disease, Familial4	Alzheimer'S Disease 4, Early Onset
Alzheimer Disease, Type 4

Mild Cognitive Impairment

Dementia, Lewy Body

Lewy Body Dementia	Lewy Body Disease
Diffuse Lewy Body Disease	Dementia With Lewy Bodies
DLB	Autosomal Dominant Diffuse Lewy Body Disease
Cortical Lewy Body Disease	Dementia, Lewy Body, Susceptibility To
Lewy Body Dementia, Susceptibility To	Senile Dementia Of The Lewy Body Type
Dementia Of The Lewy Body Type	Lbd
Diffuse Lewy Body Disease With Gaze Palsy	Dysphasic Dementia Hereditary
Lewy Body Type Senile Dementia	Lewy Body Variant Of Alzheimer Disease
Lewy Bodies	Lewy Body
Dlbd - [Diffuse Lewy Body Disease]	Clbd - [Cortical Lewy Body Disease]

Pick Disease Of Brain

Pick Disease	Pick'S Disease
Pick Disease Of The Brain	Lobar Atrophy Of Brain
Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions	Behavioral Variant Of Frontotemporal Dementia
Dementia In Pick'S Disease	Lobar Atrophy Of The Brain
Bvftd	Bv-Ftd
PIDB	Picks Disease

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

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-RS10478	PICALM Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	PICALM	RGD	RGD:621054
Mus musculus	PICALM	MGD	MGI:2385902
Canis familiaris	PICALM	VGNC	VGNC:44524
Felis catus	PICALM	VGNC	VGNC:64162
Bos taurus	PICALM	VGNC	VGNC:32860
Macaca mulatta	PICALM	VGNC	VGNC:75802
Others	PICALM	NCBI

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

PICALM - phosphatidylinositol binding clathrin assembly protein Gene

关于 PICALM

功能概要

PICALM 基因产物(5)

PICALM 蛋白结构

PICALM 蛋白互作信息

关联疾病

直系同源

热门区域

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PICALM - phosphatidylinositol binding clathrin assembly protein Gene

关于 PICALM

功能概要

PICALM 基因产物(5)

PICALM 蛋白结构

PICALM 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

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