LRP8 - LDL receptor related protein 8 Gene

中文名称：LDL 受体相关蛋白 8

种属: Homo sapiens

同用名: MCI1; LRP-8; APOER2; HSZ75190

基因 ID: 7804 | 基因类型: protein coding

关于 LRP8

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:53,242,364-53,328,070 (from NCBI)

This gene has 36 transcripts (splice variants), 286 orthologues, 14 paralogues and is associated with 1 phenotype. Biased expression in thyroid (RPKM 23.6), testis (RPKM 14.4) and 4 other tissues.

功能概要

该基因编码低密度脂蛋白受体 (LDLR) 家族的成员。低密度脂蛋白受体是细胞表面蛋白，在信号转导和受体介导的溶酶体降解特异性配体的内吞作用中发挥作用。编码的蛋白质通过介导 Reelin 信号传导在发育过程中的神经元迁移中发挥关键作用，并且还充当胆固醇转运蛋白载脂蛋白 E 的受体。该基因的表达可能是重度抑郁症的标志。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 6 月]

This gene encodes a member of the low density lipoprotein receptor (LDLR) family. Low density lipoprotein receptors are cell surface proteins that play roles in both signal transduction and receptor-mediated endocytosis of specific ligands for lysosomal degradation. The encoded protein plays a critical role in the migration of neurons during development by mediating Reelin signaling, and also functions as a receptor for the Cholesterol transport protein Apolipoprotein E. Expression of this gene may be a marker for major depressive disorder. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]

LRP8 基因产物(4)

mRNA	Protein	Name
NM_001018054.3	NP_001018064.1	low-density lipoprotein receptor-related protein 8 isoform 4 precursor
NM_004631.5	NP_004622.2	low-density lipoprotein receptor-related protein 8 isoform 1 precursor
NM_017522.5	NP_059992.3	low-density lipoprotein receptor-related protein 8 isoform 3 precursor
NM_033300.4	NP_150643.2	low-density lipoprotein receptor-related protein 8 isoform 2 precursor

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 protein binding	IPI IPI: 通过物理相互作用推断	12950167	GOA
enables very-low-density lipoprotein particle receptor activity	IDA IDA: 通过直接分析推断	8626535	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in endocytosis	IDA IDA: 通过直接分析推断	8626535	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in caveola	IDA IDA: 通过直接分析推断	11369809	GOA
is active in plasma membrane	IDA IDA: 通过直接分析推断	30873003	GOA
part of receptor complex	IDA IDA: 通过直接分析推断	23382219	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

LRP8 蛋白结构

Ldl_recept_a

FXa_inhibition

EGF_CA

Ldl_recept_b

0
200
400
600
800
963 a.a.

蛋白主名

其他名称

low-density lipoprotein receptor-related protein 8

ApoE receptor 2

LRP8 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	LRP8	Q14114	APC	Homo sapiens	P25054	ELISA	19116273
种属内	LRP8	Q14114	APC	Homo sapiens	P25054	SPR	19116273
种属间	LRP8	Q14114	Reln	Mus musculus	Q60841	Anti Tag CoIP	20223215

种属间: 跨种属相互作用 种属内: 同种属相互作用

LRP8 抗体

目录号	产品名	应用	反应物种
HY-P82383	ApoER2 Antibody (YA2128)	WB, IP	Human, Rat, Hamster

关联疾病

疾病名称

别名

Myocardial Infarction

Heart Attack	Myocardial Infarction, Susceptibility To
Myocardial Infarction 1	Myocardial Infarction, Protection Against
Myocardial Infarction, Decreased Susceptibility To	Myocardial Infarction, Decreased
Myocardial Infarct	MCI1
Premature Myocardial Infarction	Myocardial Infarction, Susceptibility To, Type 1

Osteoporosis-Pseudoglioma Syndrome

OPPG	Ops
Osteoporosis With Pseudoglioma	Osteogenesis Imperfecta, Ocular Form
Ocular Form Of Osteogenesis Imperfecta	Osteogenesis Imperfecta Ocular Form
Osteoporosis Pseudoglioma Syndrome	Pseudoglioma With Bone Fragility

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Cerebellar Hypoplasia

Major Depressive Disorder

Seasonal Affective Disorder	Unipolar Depression
Depression	MDD
Depressive Disorder	Unipolar Depression, Susceptibility To
Major Depressive Disorder 1	Major Depressive Disorder, Response To Citalopram Therapy In
Major Depressive Disorder 2	Winter Depression
Single Major Depressive Episode	Sad
Clinical Depression	Major Depression
Depressive Syndrome	Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment
Seasonal Affective Disorder, Susceptibility To	Recurrent Major Depression
Affective Disorder, Seasonal	Depression In A Seasonal Pattern
Depression	Seasonal
Major Depressive Disorder With A Seasonal Pattern	Seasonal Depression
Seasonal Mood Disorder	Mental Depression
Recurrent Major Depressive Episodes

Lissencephaly 2

Norman-Roberts Syndrome	Lissencephaly Syndrome, Norman-Roberts Type
LIS2	Lissencephaly With Cerebellar Hypoplasia
Lch	Lissencephaly Syndrome Norman-Roberts Type
Norman Roberts Lissencephaly Syndrome	Lissencephaly 3
Lis3	Microlissencephaly Type A
Norman-Roberts Lissencephaly Syndrome	Lissencephaly, Type 2
Cobblestone Lissencephaly

Donnai-Barrow Syndrome

Faciooculoacousticorenal Syndrome	Dbs/Foar Syndrome
Foar Syndrome	Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome
Facio-Oculo-Acoustico-Renal Syndrome	Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria
Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome	Holmes-Schepens Syndrome
Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness	DBS
Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria	Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis
Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome	Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss
Donnai Barrow Syndrome

Spinocerebellar Ataxia 37

Spinocerebellar Ataxia Type 37	SCA37
Spinocerebellar Ataxia With Altered Vertical Eye Movements

Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness

Bsnd	Sensorineural Deafness With Mild Renal Dysfunction
Bartter Disease Type 4a	BARTS4A
Bartter Syndrome, Type 4a	Bartter Syndrome Type 4
Bartter Syndrome, Neonatal, With Sensorineural Deafness	Bartter Syndrome With Sensorineural Deafness
Bartter Syndrome Type 4a	Neonatal Bartter Syndrome With Sensorineural Deafness
Bartter Syndrome Type Iv	Bartter Syndrome With Sensorineural Hearing Loss
Bartter Syndrome 4a, Neonatal, With Sensorineural Deafness	Hyperprostanglandin E Syndrome 4
Hypokalemic Alkalosis With Hypercalciuria Antenatal 4	Infantile Bartter Syndrome With Sensorineural Deafness

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

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-RS07802	LRP8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	LRP8	VGNC	VGNC:68092
Macaca mulatta	LRP8	VGNC	VGNC:74447
Bos taurus	LRP8	VGNC	VGNC:30994
Canis familiaris	LRP8	VGNC	VGNC:42779
Rattus norvegicus	LRP8	RGD	RGD:1305729
Mus musculus	LRP8	MGD	MGI:1340044

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