1. Gene
  2. LRPAP1 - LDL receptor related protein associated protein 1 Gene

LRPAP1 - LDL receptor related protein associated protein 1 Gene

中文名称:LDL 受体相关蛋白相关蛋白 1

种属: Homo sapiens

同用名: RAP; MRAP; A2RAP; HBP44; MYP23; A2MRAP; alpha-2-MRAP

基因 ID: 4043 | 基因类型: protein coding

关于 LRPAP1

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:3,503,612-3,532,422 (from NCBI)

This gene has 6 transcripts (splice variants), 192 orthologues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 14.2), placenta (RPKM 12.8) and 25 other tissues.

功能概要

该基因编码一种与低密度脂蛋白 (LDL) 受体相关蛋白相互作用的蛋白质,并通过阻止配体结合促进其正确折叠和定位。已在近视患者中发现该基因的突变 23。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 12 月]

This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

LRPAP1 基因产物(1)

mRNA Protein Name
NM_002337.4 NP_002328.1 alpha-2-macroglobulin receptor-associated protein 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 low-density lipoprotein particle receptor binding IDA
IDA: 通过直接分析推断
7774585 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
8083232 GOA
enables receptor antagonist activity IDA
IDA: 通过直接分析推断
8083232 GOA
enables receptor ligand activity IDA
IDA: 通过直接分析推断
11294867 GOA
enables very-low-density lipoprotein particle receptor binding IPI
IPI: 通过物理相互作用推断
8083232 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 IMP
IMP: 通过突变表型推断
26005850 GOA
involved in negative regulation of amyloid-beta clearance IGI
IGI: 通过遗传相互作用推断
19098903 GOA
involved in negative regulation of protein binding IDA
IDA: 通过直接分析推断
8083232 GOA
involved in negative regulation of receptor internalization IGI
IGI: 通过遗传相互作用推断
23386614 GOA
involved in negative regulation of very-low-density lipoprotein particle clearance IDA
IDA: 通过直接分析推断
8083232 GOA
involved in regulation of receptor-mediated endocytosis IDA
IDA: 通过直接分析推断
7774585 GOA
involved in signal transduction IDA
IDA: 通过直接分析推断
11294867 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
7774585 GOA
located in cis-Golgi network IDA
IDA: 通过直接分析推断
7774585 GOA
located in endoplasmic reticulum-Golgi intermediate compartment IDA
IDA: 通过直接分析推断
7774585 GOA
located in endosome IDA
IDA: 通过直接分析推断
7774585 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
16263759 GOA
located in rough endoplasmic reticulum lumen IDA
IDA: 通过直接分析推断
7774585 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

LRPAP1 蛋白结构

Alpha-2-MRAP_N

Alpha-2-MRAP_N: Alpha-2-macroglobulin RAP, N-terminal domain (15 - 133)

Alpha-2-MRAP_C

Alpha-2-MRAP_C: Alpha-2-macroglobulin RAP, C-terminal domain (145 - 357)

  • 0
  • 100
  • 200
  • 300
  • 357 a.a.
蛋白主名 其他名称

alpha-2-macroglobulin receptor-associated protein

39 kDa receptor-associated protein

重组 LRPAP1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76478 LRPAP1 Protein, Human (HEK293, His) P30533 (Y35-L357) ≥95%

关联疾病

疾病名称 别名
Myopia 23, Autosomal Recessive

MYP23

Myopia, Type 23, Autosomal Recessive

Rare Isolated Myopia
Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Refractive Error

Refractive Errors

Axenfeld-Rieger Syndrome, Type 2

Axenfeld-Rieger Syndrome Type 2

RIEG2

Rieger Syndrome, Type 2

Rieger Syndrome Type 2

Rieger Syndrome 2

Glomerulonephritis

Bright'S Disease

Membranous Nephropathy

Membranous Glomerulonephritis

Glomerulonephritis, Membranous

Idiopathic Membranous Nephropathy

Idiopathic Membranous Glomerulonephritis

MBNP

Membranous Nephropathy, Susceptibility To

Extramembranous Glomerulonephritis

Mgn

Membranous Gn

Primary Membranous Glomerulonephritis

Primary Membranous Nephropathy

Nephropathy Membranous

Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus LRPAP1 RGD RGD:620700
Canis familiaris LRPAP1 VGNC VGNC:42780
Felis catus LRPAP1 VGNC VGNC:68093
Mus musculus LRPAP1 MGD MGI:96829
Bos taurus LRPAP1 VGNC VGNC:30995
Macaca mulatta LRPAP1 VGNC VGNC:74448
Others LRPAP1 NCBI