APBA1 - amyloid beta precursor protein binding family A member 1 Gene

中文名称：淀粉样蛋白前体蛋白结合家族 A 成员 1

种属: Homo sapiens

同用名: X11; X11A; LIN10; MINT1; D9S411E; X11ALPHA

基因 ID: 320 | 基因类型: protein coding

关于 APBA1

Cytogenetic location: 9q21.12 Genomic coordinates (GRCh38): 9:69,427,532-69,673,013 (from NCBI)

This gene has 4 transcripts (splice variants), 1 gene allele, 271 orthologues and 4 paralogues. Broad expression in brain (RPKM 13.2), spleen (RPKM 2.4) and 17 other tissues.

功能概要

该基因编码的蛋白质是 X11 蛋白家族的一员。它是一种与阿尔茨海默病淀粉样前体蛋白 (APP) 相互作用的神经元衔接蛋白。它稳定 APP 并抑制蛋白水解 APP 片段的产生，包括沉积在阿尔茨海默病患者大脑中的 A β 肽。该基因产物被认为参与信号转导过程。它也被认为是大脑中一种推定的囊泡运输蛋白，可以形成一种复合物，具有将突触囊泡胞吐作用与神经元细胞粘附结合的潜力。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008]

APBA1 基因产物(1)

mRNA	Protein	Name
NM_001163.4	NP_001154.2	amyloid-beta A4 precursor protein-binding family A member 1

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	8887653	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

APBA1 蛋白结构

PID

PDZ

0
200
400
600
837 a.a.

蛋白主名

其他名称

amyloid-beta A4 precursor protein-binding family A member 1

adapter protein X11alpha

APBA1 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	APBA1	Q02410	CASK	Homo sapiens	O14936	Anti Tag CoIP	33961781
Intra	APBA1	Q02410	APP	Homo sapiens	P05067	Anti Bait CoIP	8887653
Intra	APBA1	Q02410	APP	Homo sapiens	P05067	Anti Tag CoIP	8887653
Intra	APBA1	Q02410	APP	Homo sapiens	P05067	Y2H Fragment Pooling	35914814

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

Syndromic X-Linked Intellectual Disability Najm Type

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	Micpch
X-Linked Intellectual Disability-Microcephaly-Pontocerebellar Hypoplasia Syndrome

Friedreich Ataxia

Friedreich Ataxia 1	FRDA
Friedreich Ataxia With Retained Reflexes	Frda1
Fa	Friedreich'S Ataxia
Hereditary Spinal Ataxia	Fa1
Friedreich'S Tabes	Hereditary Spinal Sclerosis
Spinocerebellar Ataxia, Friedreich	Friedreich Spinocerebellar Ataxia
Friedrich'S Ataxia

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

Villous Adenoma

Adenoma Villous

Adenoma, Villous

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer	Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Carcinoma	Hereditary Nonpolyposis Colorectal Neoplasms
Familial Nonpolyposis Colon Cancer	Hnpcc
Coca 1	Hereditary Defective Mismatch Repair Syndrome
Hereditary Non-Polyposis Colon Cancer	Hereditary Non-Polyposis Colon Cancer Syndrome
Hereditary Non-Polyposis Colorectal Cancer	Hereditary Non-Polyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colon Cancer Syndrome	Hereditary Nonpolyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colorectal Neoplasm	Hnpcc - Hereditary Nonpolyposis Colon Cancer
Cancer Family Syndrome	Familial Nonpolyposis Colorectal Cancer
Colon Cancer, Familial Nonpolyposis	Colorectal Neoplasms, Hereditary Nonpolyposis
Cancer, Colorectal, Nonpolyposis, Hereditary	Colorectal Cancer, Hereditary Nonpolyposis, Type 1

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-RS00802	APBA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-W751932	Carboxy-EG6-undecanethiol		/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	APBA1	VGNC	VGNC:69976
Felis catus	APBA1	VGNC	VGNC:102900
Mus musculus	APBA1	MGD	MGI:1860297
Rattus norvegicus	APBA1	RGD	RGD:620844
Bos taurus	APBA1	VGNC	VGNC:26000
Canis familiaris	APBA1	VGNC	VGNC:37974

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