SORL1 sortilin related receptor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SORL1provided by HGNC
Official Full Name: sortilin related receptor 1provided by HGNC
Primary source: HGNC:HGNC:11185
See related: Ensembl:ENSG00000137642 MIM:602005; AllianceGenome:HGNC:11185
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LR11; LRP9; SORLA; gp250; SorLA-1; C11orf32
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]
Annotation information: Note: In some of the published literature, this gene has been incorrectly associated with the LRP9 alias, but the LRP9 alias more correctly refers to Gene ID 26020, LRP10. [05 May 2010]
Expression: Ubiquitous expression in brain (RPKM 22.4), liver (RPKM 16.3) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q24.1

Exon count:: 48

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (121452314..121633763)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (121478500..121660113)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (121323023..121504472)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Functional characterization of SORL1 variants in cell-based assays to investigate variant pathogenicity.
Title: Functional characterization of SORL1 variants in cell-based assays to investigate variant pathogenicity.
Differential effects of SORL1 deficiency on the endo-lysosomal network in human neurons and microglia.
Title: Differential effects of SORL1 deficiency on the endo-lysosomal network in human neurons and microglia.
A familial missense variant in the Alzheimer's disease gene SORL1 impairs its maturation and endosomal sorting.
Title: A familial missense variant in the Alzheimer's disease gene SORL1 impairs its maturation and endosomal sorting.
Potentially Pathogenic SORL1 Mutations Observed in Autosomal-Dominant Cases of Alzheimer's Disease Do Not Modulate APP Physiopathological Processing.
Title: Potentially Pathogenic SORL1 Mutations Observed in Autosomal-Dominant Cases of Alzheimer's Disease Do Not Modulate APP Physiopathological Processing.
Cell-type-specific regulation of APOE and CLU levels in human neurons by the Alzheimer's disease risk gene SORL1.
Title: Cell-type-specific regulation of APOE and CLU levels in human neurons by the Alzheimer's disease risk gene SORL1.
SorLA Protective Function Is Restored by Improving SorLA Protein Maturation in a Subset of Alzheimer's Disease-Associated SORL1 Missense Variants.
Title: SorLA Protective Function Is Restored by Improving SorLA Protein Maturation in a Subset of Alzheimer's Disease-Associated SORL1 Missense Variants.
SORL1 rs1699102 Moderates the Effect of Sex on Language Network.
Title: SORL1 rs1699102 Moderates the Effect of Sex on Language Network.
Dimerization of the Alzheimer's disease pathogenic receptor SORLA regulates its association with retromer.
Title: Dimerization of the Alzheimer's disease pathogenic receptor SORLA regulates its association with retromer.
Mutations in SORL1 and MTHFDL1 possibly contribute to the development of Alzheimer's disease in a multigenerational Colombian Family.
Title: Mutations in SORL1 and MTHFDL1 possibly contribute to the development of Alzheimer's disease in a multigenerational Colombian Family.
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.
Title: Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.

Submit: New GeneRIF Correction See all GeneRIFs (175)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH12473 (e-PCR)
- UniSTS:1054

SHGC-53425 (e-PCR)
- UniSTS:22307

RH12302 (e-PCR)
- UniSTS:37481

MARC_13961-13962:1007650350:1 (e-PCR)
- UniSTS:267626

SHGC-83535 (e-PCR)
- UniSTS:101747

SHGC-105603 (e-PCR)
- UniSTS:169360

RH45842 (e-PCR)
- UniSTS:9113

G19692 (e-PCR)
- UniSTS:2460

A001V33 (e-PCR)
- UniSTS:2461

RH11765 (e-PCR)
- UniSTS:26021

D11S2303E (e-PCR)
- UniSTS:57770

T15980 (e-PCR)
- UniSTS:51121

RH122364 (e-PCR)
- UniSTS:138461

SHGC-142924 (e-PCR)
- UniSTS:171744

RH119868 (e-PCR)
- UniSTS:133613

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables amyloid-beta binding	IDA Inferred from Direct Assay more info	PubMed
enables amyloid-beta binding	IPI Inferred from Physical Interaction more info	PubMed
enables aspartic-type endopeptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables aspartic-type endopeptidase inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables low-density lipoprotein particle binding	IPI Inferred from Physical Interaction more info	PubMed
enables low-density lipoprotein particle receptor activity	TAS Traceable Author Statement more info	PubMed
enables neuropeptide binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane signaling receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in adaptive thermogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell migration	IEA Inferred from Electronic Annotation more info
involved_in diet induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in endosome to plasma membrane protein transport	IEA Inferred from Electronic Annotation more info
involved_in insulin receptor recycling	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of BMP signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of amyloid precursor protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of amyloid precursor protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of amyloid-beta formation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of amyloid-beta formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neurofibrillary tangle assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neurogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein-containing complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of triglyceride catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuropeptide signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ER to Golgi vesicle-mediated transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of adipose tissue development	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of early endosome to recycling endosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endocytic recycling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of glial cell-derived neurotrophic factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of insulin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein exit from endoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein localization to early endosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in post-Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in post-Golgi vesicle-mediated transport	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
involved_in protein maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein retention in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein retention in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
involved_in protein targeting	IDA Inferred from Direct Assay more info	PubMed
involved_in protein targeting	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein targeting to lysosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein targeting to lysosome	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor-mediated endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of smooth muscle cell migration	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi cisterna	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome	IMP Inferred from Mutant Phenotype more info	PubMed
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in multivesicular body	IDA Inferred from Direct Assay more info	PubMed
located_in multivesicular body membrane	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nuclear envelope lumen	IDA Inferred from Direct Assay more info	PubMed
located_in perinucleolar compartment	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in recycling endosome	IMP Inferred from Mutant Phenotype more info	PubMed
located_in recycling endosome membrane	IEA Inferred from Electronic Annotation more info
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed
located_in transport vesicle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: sortilin-related receptor

Names: LDLR relative with 11 ligand-binding repeats; low-density lipoprotein receptor relative with 11 ligand-binding repeats; mosaic protein LR11; sortilin-related receptor, L(DLR class) A repeats containing; sorting protein-related receptor containing LDLR class A repeats

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023313.2 RefSeqGene

Range

5002..186451

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003105.6 → NP_003096.2 sortilin-related receptor preproprotein

Status: REVIEWED

Source sequence(s)

AP000664, AP000977, KF459541

Consensus CDS

CCDS8436.1

UniProtKB/Swiss-Prot

B2RNX7, Q92673, Q92856

Related

ENSP00000260197.6, ENST00000260197.12

Conserved Domains (8) summary

smart00192
Location:1198 → 1230

LDLa; Low-density lipoprotein receptor domain class A

smart00060
Location:1749 → 1829

FN3; Fibronectin type 3 domain

smart00135
Location:824 → 866

LY; Low-density lipoprotein-receptor YWTD domain

smart00602
Location:124 → 753

VPS10; VPS10 domain

cd00063
Location:1651 → 1742

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd00112
Location:1373 → 1403

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

pfam00057
Location:1157 → 1192

Ldl_recept_a; Low-density lipoprotein receptor domain class A

pfam00058
Location:890 → 929

Ldl_recept_b; Low-density lipoprotein receptor repeat class B