1. Gene
  2. SORL1 - sortilin related receptor 1 Gene

SORL1 - sortilin related receptor 1 Gene

中文名称:sortilin 相关受体 1

种属: Homo sapiens

同用名: LR11; LRP9; SORLA; gp250; SorLA-1; C11orf32

基因 ID: 6653 | 基因类型: protein coding

关于 SORL1

Cytogenetic location: 11q24.1 Genomic coordinates (GRCh38): 11:121,452,314-121,633,763 (from NCBI)

This gene has 13 transcripts (splice variants), 201 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 22.4), liver (RPKM 16.3) and 21 other tissues.

功能概要

该基因编码的嵌合蛋白至少属于两个家族:液泡蛋白分选 10 (VPS10) 结构域受体家族和低密度脂蛋白受体 (LDLR) 家族。编码的蛋白质还包含 III 型纤连蛋白重复序列和表皮生长因子重复序列。编码的前原蛋白经过蛋白水解处理以生成成熟受体,这可能在内吞作用和分选中发挥作用。该基因的突变可能与阿尔茨海默病有关。[RefSeq 提供,2016 年 2 月]

This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, Feb 2016]

SORL1 基因产物(1)

mRNA Protein Name
NM_003105.6 NP_003096.2 sortilin-related receptor preproprotein
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 amyloid-beta binding IDA
IDA: 通过直接分析推断
24523320 GOA
enables amyloid-beta binding IPI
IPI: 通过物理相互作用推断
16407538 GOA
enables aspartic-type endopeptidase inhibitor activity IDA
IDA: 通过直接分析推断
16407538 GOA
enables aspartic-type endopeptidase inhibitor activity IMP
IMP: 通过突变表型推断
17855360 GOA
enables low-density lipoprotein particle binding IPI
IPI: 通过物理相互作用推断
17326667 GOA
enables neuropeptide binding IPI
IPI: 通过物理相互作用推断
11082041 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11294867 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
17855360 GOA
enables transmembrane signaling receptor activity IDA
IDA: 通过直接分析推断
11294867 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in insulin receptor recycling IDA
IDA: 通过直接分析推断
27322061 GOA
involved in negative regulation of amyloid precursor protein catabolic process IDA
IDA: 通过直接分析推断
16407538 GOA
involved in negative regulation of amyloid precursor protein catabolic process IMP
IMP: 通过突变表型推断
17855360 GOA
involved in negative regulation of amyloid-beta formation IDA
IDA: 通过直接分析推断
16407538 GOA
involved in negative regulation of amyloid-beta formation IMP
IMP: 通过突变表型推断
17855360 GOA
involved in negative regulation of protein-containing complex assembly IMP
IMP: 通过突变表型推断
21989385 GOA
involved in neuropeptide signaling pathway IDA
IDA: 通过直接分析推断
11294867 GOA
involved in positive regulation of ER to Golgi vesicle-mediated transport IMP
IMP: 通过突变表型推断
17855360 GOA
involved in positive regulation of adipose tissue development IDA
IDA: 通过直接分析推断
27322061 GOA
involved in positive regulation of early endosome to recycling endosome transport IMP
IMP: 通过突变表型推断
22621900 GOA
involved in positive regulation of endocytic recycling IMP
IMP: 通过突变表型推断
22621900 GOA
involved in positive regulation of glial cell-derived neurotrophic factor production IDA
IDA: 通过直接分析推断
21994944 GOA
involved in positive regulation of insulin receptor signaling pathway IDA
IDA: 通过直接分析推断
27322061 GOA
involved in positive regulation of protein catabolic process IDA
IDA: 通过直接分析推断
24523320 GOA
involved in positive regulation of protein exit from endoplasmic reticulum IMP
IMP: 通过突变表型推断
17855360 GOA
involved in positive regulation of protein localization to early endosome IMP
IMP: 通过突变表型推断
22621900 GOA
involved in post-Golgi vesicle-mediated transport IDA
IDA: 通过直接分析推断
17855360 GOA
involved in protein localization to Golgi apparatus IDA
IDA: 通过直接分析推断
17855360 GOA
involved in protein maturation IDA
IDA: 通过直接分析推断
17855360 GOA
involved in protein retention in Golgi apparatus IDA
IDA: 通过直接分析推断
17855360 GOA
involved in protein targeting IDA
IDA: 通过直接分析推断
16407538 GOA
involved in protein targeting IMP
IMP: 通过突变表型推断
16174740 GOA
involved in protein targeting to lysosome IDA
IDA: 通过直接分析推断
24523320 GOA
involved in receptor-mediated endocytosis IDA
IDA: 通过直接分析推断
11294867 GOA
involved in regulation of smooth muscle cell migration IDA
IDA: 通过直接分析推断
14764453 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
11294867 GOA
located in Golgi cisterna IDA
IDA: 通过直接分析推断
17855360 GOA
located in cell surface IDA
IDA: 通过直接分析推断
11294867 GOA
located in early endosome IDA
IDA: 通过直接分析推断
21385844 GOA
located in early endosome IMP
IMP: 通过突变表型推断
22621900 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
17855360 GOA
located in endosome IDA
IDA: 通过直接分析推断
16174740 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
14764453 GOA
located in membrane IDA
IDA: 通过直接分析推断
14764453 GOA
located in multivesicular body IDA
IDA: 通过直接分析推断
21385844 GOA
located in nuclear envelope lumen IDA
IDA: 通过直接分析推断
17855360 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
21385844 GOA
located in recycling endosome IMP
IMP: 通过突变表型推断
22621900 GOA
located in trans-Golgi network IDA
IDA: 通过直接分析推断
24001769 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

SORL1 蛋白结构

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (845 - 883)

Ldl_recept_b

Ldl_recept_b: Low-density lipoprotein receptor repeat class B (890 - 929)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (1077 - 1112)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (1117 - 1153)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (1157 - 1192)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (1198 - 1235)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (1235 - 1271)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (1324 - 1359)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (1367 - 1403)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (1417 - 1453)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (1470 - 1506)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (1513 - 1549)

fn3

fn3: Fibronectin type III domain (1557 - 1630)

fn3

fn3: Fibronectin type III domain (1653 - 1735)

fn3

fn3: Fibronectin type III domain (1934 - 2008)

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  • 2000
  • 2214 a.a.
蛋白主名 其他名称

sortilin-related receptor

LDLR relative with 11 ligand-binding repeats

SORL1 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 SORL1 Q92673 POU6F2 Homo sapiens P78424
Y2H Prey Pooling
32296183
Intra SORL1 Q92673 POU6F2 Homo sapiens P78424
Y2H Array
32296183
Intra SORL1 Q92673 RHOH Homo sapiens Q15669
Y2H Array
32296183
Intra SORL1 Q92673 RHOH Homo sapiens Q15669
Y2H Prey Pooling
32296183
Intra SORL1 Q92673 CRLF1 Homo sapiens O75462
SPR
26858303
Intra SORL1 Q92673 GFRA1 Homo sapiens P56159-2
SPR
23333276
Intra SORL1 Q92673 P05067-PRO_0000000093 Homo sapiens P05067-PRO_0000000093
NMR
25643321
Intra SORL1 Q92673 P05067-PRO_0000000093 Homo sapiens P05067-PRO_0000000093
X-Ray Diffraction
25643321
Intra SORL1 Q92673 Q92673-PRO_0000033164 Homo sapiens Q92673-PRO_0000033164
SPR
23333276
Intra SORL1 Q92673 Q92673-PRO_0000033164 Homo sapiens Q92673-PRO_0000033164
SPR
26858303
Intra SORL1 Q92673 Q92673-PRO_0000033164 Homo sapiens Q92673-PRO_0000033164
SPR
28265003
Intra SORL1 Q92673 P39905-PRO_0000034005 Homo sapiens P39905-PRO_0000034005
SPR
23333276
Intra SORL1 Q92673 P39905-PRO_0000034005 Homo sapiens P39905-PRO_0000034005
Confocal
23333276
Intra SORL1 Q92673 HSPA12A Homo sapiens O43301
Pull Down
30679749
Intra SORL1 Q92673 HSPA12A Homo sapiens O43301
Confocal
30679749
Intra SORL1 Q92673 HSPA12A Homo sapiens O43301
Y2H
30679749
Intra SORL1 Q92673 IL6R Homo sapiens P08887
Confocal
28265003
Intra SORL1 Q92673 IL6R Homo sapiens P08887
SPR
28265003
Intra SORL1 Q92673 IL6R Homo sapiens P08887
Crosslink
28265003
Intra SORL1 Q92673 APP Homo sapiens P05067-4
Crosslink
16174740
Intra SORL1 Q92673 APP Homo sapiens P05067-4
SPR
16174740
Intra SORL1 Q92673 APP Homo sapiens P05067-4
Confocal
16174740
Intra SORL1 Q92673 APP Homo sapiens P05067-4
FRET
16174740
Intra SORL1 Q92673 APP Homo sapiens P05067-4
Solution Sedimentation
16174740
Intra SORL1 Q92673 P05067-PRO_0000000091 Homo sapiens P05067-PRO_0000000091
IF
16407538
Intra SORL1 Q92673 GGA1 Homo sapiens Q9UJY5
Pull Down
30679749
Intra SORL1 Q92673 GGA1 Homo sapiens Q9UJY5
Y2H
11821067
Intra SORL1 Q92673 GGA1 Homo sapiens Q9UJY5
Anti Tag CoIP
26053850
Intra SORL1 Q92673 GGA2 Homo sapiens Q9UJY4
Y2H
30679749
Intra SORL1 Q92673 LRPAP1 Homo sapiens P30533
SPR
17326667
Intra SORL1 Q92673 LRPAP1 Homo sapiens P30533
SPR
26858303
Intra SORL1 Q92673 IL6 Homo sapiens P05231
SPR
28265003
Intra SORL1 Q92673 IL6 Homo sapiens P05231
Confocal
28265003
Intra SORL1 Q92673 DDIT4L Homo sapiens Q96D03
Y2H Prey Pooling
32296183
Intra SORL1 Q92673 DDIT4L Homo sapiens Q96D03
Validated Y2H
32296183
Intra SORL1 Q92673 DDIT4L Homo sapiens Q96D03
Y2H Array
32296183
Intra SORL1 Q92673 CNTFR Homo sapiens P26992
SPR
26858303
Intra SORL1 Q92673 APP Homo sapiens P05067
Crosslink
16174740
Intra SORL1 Q92673 APP Homo sapiens P05067
Confocal
16174740
Cross SORL1 Q92673 Gfra1 Rattus norvegicus Q62997
Confocal
23333276
Cross SORL1 Q92673 Gfra1 Rattus norvegicus Q62997
Crosslink
23333276
Cross SORL1 Q92673 Gfra1 Rattus norvegicus Q62997
EM
23333276
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
Early-Onset, Autosomal Dominant Alzheimer Disease

Familial Alzheimer Disease

Early-Onset Autosomal Dominant Alzheimer Disease

Eofad

Early-Onset Familial Autosomal Dominant Alzheimer Disease

Alzheimer'S Disease, Familial

Alzheimer Disease 9

AD9

Alzheimer'S Disease 9

Alzheimer Disease 9, Susceptibility To

Alzheimer Disease 9, Late-Onset

Alzheimer'S Disease 9, Late Onset

{Alzheimer Disease 9, Susceptibility To}

Dementia

Dementias

Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

Atrial Septal Defect 8

ASD8

Atrial Heart Septal Defect 8

Septal Defect, Atrial, Type 8

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

Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia

Atrial Septal Defect 4

ASD4

Atrial Heart Septal Defect 4

Septal Defect, Atrial, Type 4

Cerebral Amyloid Angiopathy, Cst3-Related

Cerebral Amyloid Angiopathy

Hereditary Cerebral Hemorrhage With Amyloidosis

Hchwa

Hereditary Cystatin C Amyloid Angiopathy

Cerebral Amyloid Angiopathy, Familial

Amyloidosis, Cerebroarterial, Icelandic Type

Amyloidosis Vi

Cerebral Hemorrhage, Hereditary, With Amyloidosis

Cst3-Related Cerebral Amyloid Angiopathy

Cerebral Hemorrhage, Hereditary, With Amyloidosis, Icelandic Variant

Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Variant

Caa, Familial

Cerebral Amyloid Angiopathy, Genetic

Acys Amyloidosis

Cst3-Related Amyloidosis

Cystatin Amyloidosis

Hchwa, Icelandic Type

Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Type

Amyloidosis 6

AMYL6

Acys

Caa

Cerebral Amyloid Angiopathy Cst3-Related

Cerebroarterial Amyloidosis Icelandic Type

Cystatin C Amyloidosis

Hccaa

Hchwai

Hchwa-I

Hereditary Cerebral Hemorrhage With Amyloidosis Icelandic Type

Cerebral Amyloid Angiopathy Familial

Angiopathy, Amyloid, Cerebral, Cst3-Related

Hereditary Cerebral Amyloid Angiopathy, Icelandic Type

Familial Cerebral Amyloid Angiopathy

Cerebral Amyloid Angiopathy, Hereditary

Megalencephalic Leukoencephalopathy With Subcortical Cysts 2b

Megalencephalic Leukoencephalopathy With Subcortical Cysts 2b, Remitting, With Or Without Mental Retardation

Down Syndrome

Trisomy 21

Complete Trisomy 21 Syndrome

Down'S Syndrome

Trisomy 21 Syndrome

Down'S Syndrome - Trisomy 21

Downs Syndrome

G Trisomy

47,Xx,+21

47,Xy,+21

Trisomy G

Down Syndrome, Susceptibility To

Chromosome 21 Trisomy

Trisomy 21 Nos

Abnormal Autosomes 21

Mild Cognitive Impairment
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a

MLC2A

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 2a

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 2a

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]

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson 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

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus SORL1 RGD RGD:619914
Felis catus SORL1 VGNC VGNC:65574
Mus musculus SORL1 MGD MGI:1202296
Macaca mulatta SORL1 VGNC VGNC:101401
Bos taurus SORL1 VGNC VGNC:35132
Canis familiaris SORL1 VGNC VGNC:46663