SORL1 - sortilin related receptor 1 Gene

Homo sapiens

Also known as LR11; LRP9; SORLA; gp250; SorLA-1; C11orf32

Gene ID: 6653 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_003105.6	NP_003096.2	sortilin-related receptor preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables amyloid-beta binding	IDA IDA: Inferred from direct assay	24523320	GOA
enables amyloid-beta binding	IPI IPI: Inferred from physical interaction	16407538	GOA
enables aspartic-type endopeptidase inhibitor activity	IDA IDA: Inferred from direct assay	16407538	GOA
enables aspartic-type endopeptidase inhibitor activity	IMP IMP: Inferred from mutant phenotype	17855360	GOA
enables low-density lipoprotein particle binding	IPI IPI: Inferred from physical interaction	17326667	GOA
enables neuropeptide binding	IPI IPI: Inferred from physical interaction	11082041	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11294867	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	17855360	GOA
enables transmembrane signaling receptor activity	IDA IDA: Inferred from direct assay	11294867	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in insulin receptor recycling	IDA IDA: Inferred from direct assay	27322061	GOA
involved in negative regulation of amyloid precursor protein catabolic process	IDA IDA: Inferred from direct assay	16407538	GOA
involved in negative regulation of amyloid precursor protein catabolic process	IMP IMP: Inferred from mutant phenotype	17855360	GOA
involved in negative regulation of amyloid-beta formation	IDA IDA: Inferred from direct assay	16407538	GOA
involved in negative regulation of amyloid-beta formation	IMP IMP: Inferred from mutant phenotype	17855360	GOA
involved in negative regulation of protein-containing complex assembly	IMP IMP: Inferred from mutant phenotype	21989385	GOA
involved in neuropeptide signaling pathway	IDA IDA: Inferred from direct assay	11294867	GOA
involved in positive regulation of ER to Golgi vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	17855360	GOA
involved in positive regulation of adipose tissue development	IDA IDA: Inferred from direct assay	27322061	GOA
involved in positive regulation of early endosome to recycling endosome transport	IMP IMP: Inferred from mutant phenotype	22621900	GOA
involved in positive regulation of endocytic recycling	IMP IMP: Inferred from mutant phenotype	22621900	GOA
involved in positive regulation of glial cell-derived neurotrophic factor production	IDA IDA: Inferred from direct assay	21994944	GOA
involved in positive regulation of insulin receptor signaling pathway	IDA IDA: Inferred from direct assay	27322061	GOA
involved in positive regulation of protein catabolic process	IDA IDA: Inferred from direct assay	24523320	GOA
involved in positive regulation of protein exit from endoplasmic reticulum	IMP IMP: Inferred from mutant phenotype	17855360	GOA
involved in positive regulation of protein localization to early endosome	IMP IMP: Inferred from mutant phenotype	22621900	GOA
involved in post-Golgi vesicle-mediated transport	IDA IDA: Inferred from direct assay	17855360	GOA
involved in protein localization to Golgi apparatus	IDA IDA: Inferred from direct assay	17855360	GOA
involved in protein maturation	IDA IDA: Inferred from direct assay	17855360	GOA
involved in protein retention in Golgi apparatus	IDA IDA: Inferred from direct assay	17855360	GOA
involved in protein targeting	IDA IDA: Inferred from direct assay	16407538	GOA
involved in protein targeting	IMP IMP: Inferred from mutant phenotype	16174740	GOA
involved in protein targeting to lysosome	IDA IDA: Inferred from direct assay	24523320	GOA
involved in receptor-mediated endocytosis	IDA IDA: Inferred from direct assay	11294867	GOA
involved in regulation of smooth muscle cell migration	IDA IDA: Inferred from direct assay	14764453	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	11294867	GOA
located in Golgi cisterna	IDA IDA: Inferred from direct assay	17855360	GOA
located in cell surface	IDA IDA: Inferred from direct assay	11294867	GOA
located in early endosome	IDA IDA: Inferred from direct assay	21385844	GOA
located in early endosome	IMP IMP: Inferred from mutant phenotype	22621900	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	17855360	GOA
located in endosome	IDA IDA: Inferred from direct assay	16174740	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	14764453	GOA
located in membrane	IDA IDA: Inferred from direct assay	14764453	GOA
located in multivesicular body	IDA IDA: Inferred from direct assay	21385844	GOA
located in nuclear envelope lumen	IDA IDA: Inferred from direct assay	17855360	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	21385844	GOA
located in recycling endosome	IMP IMP: Inferred from mutant phenotype	22621900	GOA
located in trans-Golgi network	IDA IDA: Inferred from direct assay	24001769	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SORL1 Protein Structure

Ldl_recept_b

Ldl_recept_a

fn3

0
400
800
1200
1600
2000
2214 a.a.

Protein Preferred Names

Protein Names

sortilin-related receptor

LDLR relative with 11 ligand-binding repeats

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13574	SORL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

Name
Email *

	Sorry, but the email address you supplied was invalid.