2. Gene
  3. LDLRAP1 - low density lipoprotein receptor adaptor protein 1 Gene

LDLRAP1 - low density lipoprotein receptor adaptor protein 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：低密度脂蛋白受体衔接蛋白 1

种属: Homo sapiens

同用名: ARH; ARH1; ARH2; FHCB1; FHCB2; FHCL4

基因 ID: 26119 | 基因类型: protein coding

关于 LDLRAP1

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:25,543,606-25,590,400 (from NCBI)

This gene has 7 transcripts (splice variants), 285 orthologues, 11 paralogues and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 14.0), lymph node (RPKM 12.3) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种含有磷酸酪氨酸结合 (PTD) 结构域的胞质蛋白。已发现 PTD 结构域与 LDL 受体的细胞质尾部相互作用。该基因的突变导致低密度脂蛋白受体功能障碍，并导致常染色体隐性遗传性高胆固醇血症。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]

LDLRAP1 基因产物(1)

mRNA Protein Name
NM_015627.3 NP_056442.2 low density lipoprotein receptor adapter protein 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 AP-1 adaptor complex binding IDA
IDA: 通过直接分析推断
12451172 GOA
enables AP-2 adaptor complex binding IDA
IDA: 通过直接分析推断
12451172 GOA
enables amyloid-beta binding IPI
IPI: 通过物理相互作用推断
12805363 GOA
enables clathrin adaptor activity IDA
IDA: 通过直接分析推断
15728179 GOA
enables clathrin binding IDA
IDA: 通过直接分析推断
12221107 GOA
enables low-density lipoprotein particle receptor binding IPI
IPI: 通过物理相互作用推断
12221107 GOA
enables phosphatidylinositol-4,5-bisphosphate binding IDA
IDA: 通过直接分析推断
12451172 GOA
enables phosphotyrosine residue binding IDA
IDA: 通过直接分析推断
12451172 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12221107 GOA
enables signaling adaptor activity IDA
IDA: 通过直接分析推断
12221107 GOA
enables signaling receptor complex adaptor activity IMP
IMP: 通过突变表型推断
15166224 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in amyloid precursor protein metabolic process IMP
IMP: 通过突变表型推断
12805363 GOA
involved in cellular response to cytokine stimulus IMP
IMP: 通过突变表型推断
28257760 GOA
involved in cholesterol homeostasis IMP
IMP: 通过突变表型推断
15166224 GOA
involved in low-density lipoprotein particle clearance IMP
IMP: 通过突变表型推断
12417523 GOA
involved in positive regulation of low-density lipoprotein particle clearance IMP
IMP: 通过突变表型推断
28257760 GOA
involved in positive regulation of receptor-mediated endocytosis IMP
IMP: 通过突变表型推断
15166224 GOA
involved in positive regulation of receptor-mediated endocytosis involved in cholesterol transport IMP
IMP: 通过突变表型推断
12417523 GOA
involved in positive regulation of vascular associated smooth muscle cell proliferation IMP
IMP: 通过突变表型推断
28257760 GOA
involved in receptor internalization IMP
IMP: 通过突变表型推断
15166224 GOA
involved in receptor-mediated endocytosis IDA
IDA: 通过直接分析推断
14528014 GOA
involved in receptor-mediated endocytosis involved in cholesterol transport IMP
IMP: 通过突变表型推断
12417523 GOA
involved in regulation of protein binding IMP
IMP: 通过突变表型推断
15166224 GOA
involved in regulation of protein localization to plasma membrane IMP
IMP: 通过突变表型推断
12805363 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in basal plasma membrane IDA
IDA: 通过直接分析推断
12451172 GOA
located in cytoplasmic side of plasma membrane IDA
IDA: 通过直接分析推断
14528014 GOA
located in cytosol IDA
IDA: 通过直接分析推断
12451172 GOA
located in early endosome IDA
IDA: 通过直接分析推断
14528014 GOA
located in recycling endosome IDA
IDA: 通过直接分析推断
14528014 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

LDLRAP1 蛋白结构

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (48 - 170)

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

low density lipoprotein receptor adapter protein 1

LDL receptor adaptor protein

LDLRAP1 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
LDLRAP1 Q5SW96 AP2B1 Homo sapiens P63010-2
Y2H Prey Pooling
32296183
种属内
LDLRAP1 Q5SW96 AP2B1 Homo sapiens P63010-2
BFG-2H
27107012
种属内
LDLRAP1 Q5SW96 AP2B1 Homo sapiens P63010-2
Y2H Array
32296183
种属内
LDLRAP1 Q5SW96 AP1B1 Homo sapiens Q10567-3
Y2H Prey Pooling
32296183
种属内
LDLRAP1 Q5SW96 AP1B1 Homo sapiens Q10567-3
Y2H Array
32296183
种属内
LDLRAP1 Q5SW96 PSD4 Homo sapiens Q8NDX1-2
Validated Y2H
25910212
种属内
LDLRAP1 Q5SW96 PSD4 Homo sapiens Q8NDX1-2
Y2H Array
25910212
种属内
LDLRAP1 Q5SW96 PSD4 Homo sapiens Q8NDX1-2
Y2H Prey Pooling
32296183
种属内
LDLRAP1 Q5SW96 PSD4 Homo sapiens Q8NDX1-2
Validated Y2H
32296183
种属内
LDLRAP1 Q5SW96 PSD4 Homo sapiens Q8NDX1-2
Y2H Bait-Prey Pool
25910212
种属内
LDLRAP1 Q5SW96 PSD4 Homo sapiens Q8NDX1-2
Y2H Array
32296183
种属内
LDLRAP1 Q5SW96 ESPNL Homo sapiens Q6ZVH7
Y2H Prey Pooling
32296183
种属内
LDLRAP1 Q5SW96 ESPNL Homo sapiens Q6ZVH7
Validated Y2H
32296183
种属内
LDLRAP1 Q5SW96 ESPNL Homo sapiens Q6ZVH7
Y2H Array
32296183
种属内
LDLRAP1 Q5SW96 NOTO Homo sapiens A8MTQ0
Y2H Prey Pooling
32296183
种属内
LDLRAP1 Q5SW96 NOTO Homo sapiens A8MTQ0
Y2H Array
32296183
种属内
LDLRAP1 Q5SW96 HOXC8 Homo sapiens P31273
Y2H Prey Pooling
32296183
种属内
LDLRAP1 Q5SW96 HOXC8 Homo sapiens P31273
Y2H Array
32296183
种属内
LDLRAP1 Q5SW96 PAX5 Homo sapiens Q02548
Y2H Prey Pooling
32296183
种属内
LDLRAP1 Q5SW96 PAX5 Homo sapiens Q02548
Y2H Array
32296183
种属内
LDLRAP1 Q5SW96 AP2B1 Homo sapiens P63010
Pull Down
12221107
种属内
LDLRAP1 Q5SW96 FHL2 Homo sapiens Q14192
Y2H Array
32296183
种属内
LDLRAP1 Q5SW96 FHL2 Homo sapiens Q14192
Y2H Prey Pooling
32296183
种属内
LDLRAP1 Q5SW96 HOXD8 Homo sapiens P13378
Y2H Prey Pooling
32296183
种属内
LDLRAP1 Q5SW96 HOXD8 Homo sapiens P13378
Y2H Array
32296183
种属内
LDLRAP1 Q5SW96 MAPK8IP3 Homo sapiens Q9UPT6
Y2H Prey Pooling
32296183
种属内
LDLRAP1 Q5SW96 MAPK8IP3 Homo sapiens Q9UPT6
Validated Y2H
32296183
种属内
LDLRAP1 Q5SW96 MAPK8IP3 Homo sapiens Q9UPT6
BFG-2H
27107012
种属内
LDLRAP1 Q5SW96 MAPK8IP3 Homo sapiens Q9UPT6
Y2H Array
32296183
种属内
LDLRAP1 Q5SW96 MAPK8IP3 Homo sapiens Q9UPT6
Complementation
32296183
种属内
LDLRAP1 Q5SW96 MAGEA4 Homo sapiens P43358
Y2H Prey Pooling
32296183
种属内
LDLRAP1 Q5SW96 MAGEA4 Homo sapiens P43358
Y2H Array
32296183
种属内
LDLRAP1 Q5SW96 STN1 Homo sapiens Q9H668
Validated Y2H
32296183
种属内
LDLRAP1 Q5SW96 STN1 Homo sapiens Q9H668
Y2H Array
25416956
种属内
LDLRAP1 Q5SW96 STN1 Homo sapiens Q9H668
Y2H Bait-Prey Pool
25910212
种属内
LDLRAP1 Q5SW96 STN1 Homo sapiens Q9H668
Y2H Array
32296183
种属内
LDLRAP1 Q5SW96 STN1 Homo sapiens Q9H668
Validated Y2H
25910212
种属内
LDLRAP1 Q5SW96 STN1 Homo sapiens Q9H668
Y2H Prey Pooling
25416956
种属内
LDLRAP1 Q5SW96 STN1 Homo sapiens Q9H668
Y2H Array
25910212
种属内
LDLRAP1 Q5SW96 STN1 Homo sapiens Q9H668
Y2H Prey Pooling
32296183
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
Hypercholesterolemia, Familial, 4

Hypercholesterolemia, Autosomal Recessive

Arh

FHCL4

Autosomal Recessive Hypercholesterolemia

Arh1

Arh2

Autosomal Recessive Hypercholesterolemia 1

Autosomal Recessive Hypercholesterolemia 2

Fhcb1

Fhcb2

Hypercholesterolemia, Autosomal Recessive, 1, Formerly

Arh1, Formerly

Fhcb1, Formerly

Hypercholesterolemia, Autosomal Recessive, 2, Formerly

Arh2, Formerly

Fhcb2, Formerly

Familial Autosomal Recessive Hypercholesterolemia

Hypercholesterolemia, Familial, Autosomal Recessive

Hypercholesterolemia, Familial, Type 4
Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia

Familial Hyperbetalipoproteinaemia

Familial Hypercholesteremia

Fredrickson Type Iia Hyperlipoproteinemia

Fredrickson Type Iia Lipidaemia

Hyperbetalipoproteinemia

Type Ii Hyperlipidemia

Familial Hypercholesterolæmia

Familial Hypercholesterolaemia

Fh

Hypercholesterolemia Familial

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial
Homozygous Familial Hypercholesterolemia

Hofh
Xanthomatosis

Xanthomatosis, Susceptibility To

Xanthelasmatosis
Corneal Degeneration

Degenerative Corneal Opacity
Familial Hyperlipidemia

Familial Hyperlipoproteinemia

Hyperlipidaemia

Hyperlipoproteinemias

Hyperlipidemia

Hyperlipemia

Hyperlipidemias
Arcus Corneae

Arcus Senilis

Corneal Arcus

Arcus Of Cornea
Sea-Blue Histiocyte Disease

Sea-Blue Histiocytosis

Sea-Blue Histiocyte Syndrome

Histiocytosis, Sea-Blue

Inherited Lipemic Splenomegaly

SBHD
Sitosterolemia

Phytosterolemia

Beta-Sitosterolemia

Plant Sterol Storage Disease

Phytosterolæmia

Sitosterolæmia

Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body

Phytosterolaemia

Sitosterolaemia

Sitosterolemia With Xanthomatosis
Hypercholesterolemia, Familial, 1

Hypercholesterolemia

FHCL1

Fhc

Fh

Hyperlipoproteinemia, Type Ii

Hyperlipoproteinemia, Type Iia

Hyper-Low-Density-Lipoproteinemia

Hypercholesterolemic Xanthomatosis, Familial

Ldl Receptor Disorder

Hypercholesterolemia, Susceptibility To

Hypercholesterolemia, Familial, Modifier Of

Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of

Ldl Cholesterol Level Qtl2

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial, Type 1

High Cholesterol

Increased Cholesterol

Low-Density-Lipoid-Type Hyperlipoproteinemia

Pure Hypercholesterolaemia

Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia

Group A Hyperlipidaemia

Pure Hypercholesterinaemia

Cholesterolaemia

Essential Cholesterolaemia

Essential Hypercholesterolaemia

Group A Hyperlipemia

Increased Low Density Lipoprotein

Low-Density-Lipoprotein-Type

Low-Density-Lipoprotein-Type Hyperlipoproteinemia
Cholesterol Ester Storage Disease
Lipoprotein Quantitative Trait Locus

Coronary Artery Disease

Coronary Artery Anomaly

Coronary Artery Disease, Susceptibility To

Myocardial Ischemia

Congenital Anomaly Of Coronary Artery

Coronary Arteriosclerosis

Coronary Disease

Coronary Heart Disease

Coronary Artery Disorder

LPAQTL

Lpa Deficiency, Congenital

Coronary Artery Abnormality

Coronary Artery Anomaly, Congenital

Chd

Coronary Syndrome

Congenital Malformations Of Coronary Vessels

Malformation Of Coronary Vessels

Congenital Coronary Artery Anomaly

Congenital Coronary Artery Deformity

Congenital Coronary Artery Disorder

Abnormal Coronary Artery

Congenital Coronary Artery Malposition

Congenital Coronary Disease

Congenital Anomaly Of Coronary Arteries
Lipid Metabolism Disorder

Dyslipidemia

Disorder Of Fatty Acid Metabolism

Lipid Metabolism Disorders

Fatty Acid Metabolism Disorder

Disorder Of Lipid Metabolism

Abnormality Of Lipid Metabolism

Lipid Metabolism, Inborn Errors

Dyslipidemias

Disorders Of Lipid Metabolism

Congenital Disorders Of Lipid Metabolism

Inherited Disorders Of Lipid Metabolism
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07580 LDLRAP1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus LDLRAP1 VGNC VGNC:30830
Canis familiaris LDLRAP1 VGNC VGNC:42626
Rattus norvegicus LDLRAP1 RGD RGD:1563417
Felis catus LDLRAP1 VGNC VGNC:80251
Mus musculus LDLRAP1 MGD MGI:2140175
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