SORL1 - sortilin related receptor 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6653

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	Verweise	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	Verweise	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	Verweise	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

SORL1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
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

Cross: Cross-species interaction Intra: Intraspecies interaction

SORL1 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P82565	SorLA Antibody (YA2310)	WB, IHC-P	Human, Mouse, Rat
HY-P85374	SorLA Antibody (YA5066)	WB; IHC-P; IHC-F; IF-Tissue	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (2)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS13574	SORL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21763	Sorl1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	SORL1	NCBI