Sorl1 sortilin-related receptor, LDLR class A repeats-containing [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sorl1provided by MGI
Official Full Name: sortilin-related receptor, LDLR class A repeats-containingprovided by MGI
Primary source: MGI:MGI:1202296
See related: Ensembl:ENSMUSG00000049313 AllianceGenome:MGI:1202296
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: LR11; SorLA; gp250; mSorLA; 2900010L19Rik
Summary: Predicted to enable several functions, including low-density lipoprotein particle binding activity; peptide binding activity; and small GTPase binding activity. Involved in several processes, including diet induced thermogenesis; negative regulation of protein metabolic process; and regulation of signal transduction. Located in extracellular space; nuclear envelope lumen; and perinucleolar compartment. Is integral component of membrane. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in Alzheimer's disease. Orthologous to human SORL1 (sortilin related receptor 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in cerebellum adult (RPKM 34.7), spleen adult (RPKM 18.6) and 21 other tissues See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 9 A5.1; 9 23.55 cM

Exon count:: 49

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (41876005..42035593, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (41964709..42124297, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SORLA mediates endocytic uptake of proIAPP and protects against islet amyloid deposition.
Title: SORLA mediates endocytic uptake of proIAPP and protects against islet amyloid deposition.
SORLA is required for insulin-induced expansion of the adipocyte precursor pool in visceral fat.
Title: SORLA is required for insulin-induced expansion of the adipocyte precursor pool in visceral fat.
SORLA Expression in Synaptic Plexiform Layers of Mouse Retina.
Title: SORLA Expression in Synaptic Plexiform Layers of Mouse Retina.
Soluble SORLA Enhances Neurite Outgrowth and Regeneration through Activation of the EGF Receptor/ERK Signaling Axis.
Title: Soluble SORLA Enhances Neurite Outgrowth and Regeneration through Activation of the EGF Receptor/ERK Signaling Axis.
SorCS1 and SorLA expression were markedly reduced in the frontal cerebral cortex and to a minor extent in the hippocampus, whereas SorCS3 expression was solely reduced in the frontal cerebral cortex
Title: Amyloidosis causes downregulation of SorLA, SorCS1 and SorCS3 expression in mice.
These results demonstrate a novel role for SORLA as a physiological and pathological EphA4 modulator.
Title: SORLA attenuates EphA4 signaling and amyloid β-induced neurodegeneration.
Results demonstrate that the lack of SORLA results in accumulation of phosphorylated synapsins in cortex and hippocampus. Authors propose an underlying molecular mechanism by demonstrating that SORLA interacts with phosphorylated synapsins through 14-3-3 adaptor proteins to deliver synapsins to calpain-mediated proteolytic degradation.
Title: SORLA regulates calpain-dependent degradation of synapsin.
Analysis of the molecular mechanism for the association of SORL1 with obesity: there is a genetic link between neurodegeneration and metabolism that converges on the receptor SORLA
Title: SORLA facilitates insulin receptor signaling in adipocytes and exacerbates obesity.
SorLA ectodomain, released from the cell membrane upon enzymatic cleavage of full-length SorLA, may act as an IL-6 carrier protein that stabilizes IL-6 and its capacity for trans signaling.
Title: SorLA in Interleukin-6 Signaling and Turnover.
We identify binding and trafficking interactions between two of these factors, SORLA and SNX27, and demonstrate that SNX27 can direct trafficking of SORLA and the Abeta precursor APP to the cell surface to limit the production of Abeta. Diversion APP to the cell surface through modulation of this molecular complex may represent a complimentary strategy for future development in AD treatment.
Title: SNX27 and SORLA Interact to Reduce Amyloidogenic Subcellular Distribution and Processing of Amyloid Precursor Protein.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (2)
Targeted (4) 1 citation
Endonuclease-mediated (6)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH137847 (e-PCR)
- UniSTS:219934

AI596264 (e-PCR)
- UniSTS:164399

RH125042 (e-PCR)
- UniSTS:161864

D9Mit45 (e-PCR), detects polymorphism
- UniSTS:131934

RH133899 (e-PCR)
- UniSTS:217182

Sorl1 (e-PCR), detects polymorphism
- UniSTS:144480

D9Bwg1411e (e-PCR), detects polymorphism
- UniSTS:142742

AW261561 (e-PCR)
- UniSTS:179878

Sorl1 (e-PCR), detects polymorphism
- UniSTS:546038

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables amyloid-beta binding	ISO Inferred from Sequence Orthology more info
enables aspartic-type endopeptidase inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables aspartic-type endopeptidase inhibitor activity	ISO Inferred from Sequence Orthology more info
enables low-density lipoprotein particle binding	ISO Inferred from Sequence Orthology more info
enables neuropeptide binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	ISO Inferred from Sequence Orthology more info
enables transmembrane signaling receptor activity	ISO Inferred from Sequence Orthology more info

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

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi cisterna	ISO Inferred from Sequence Orthology more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
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 membrane	ISO Inferred from Sequence Orthology more info
located_in multivesicular body	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope lumen	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope lumen	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info	PubMed
located_in perinucleolar compartment	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in recycling endosome	ISO Inferred from Sequence Orthology more info
located_in trans-Golgi network	ISO Inferred from Sequence Orthology more info

General protein information

Go to the top of the page Help

Preferred Names: sortilin-related receptor

Names: LDLR relative with 11 ligand-binding repeats; low-density lipoprotein receptor relative with 11 ligand-binding repeats; sorLA-1; sorting protein-related receptor containing LDLR class A repeats

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

mRNA and Protein(s)

NM_001357261.1 → NP_001344190.1 sortilin-related receptor isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC103610

Conserved Domains (7) summary

smart00192
Location:947 → 974

LDLa; Low-density lipoprotein receptor domain class A

smart00135
Location:490 → 532

LY; Low-density lipoprotein-receptor YWTD domain

cd00063
Location:1317 → 1408

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:991 → 1025

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:823 → 858

Ldl_recept_a; Low-density lipoprotein receptor domain class A

pfam00058
Location:556 → 595

Ldl_recept_b; Low-density lipoprotein receptor repeat class B

cl25792
Location:1 → 419

Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
NM_011436.4 → NP_035566.2 sortilin-related receptor isoform 1 precursor

See identical proteins and their annotated locations for NP_035566.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC103610, AC160051, AK147303

Consensus CDS

CCDS40594.1

UniProtKB/Swiss-Prot

O54711, O70581, O88307, Q3UHM3

Related

ENSMUSP00000058613.9, ENSMUST00000060989.9

Conserved Domains (8) summary

smart00192
Location:1281 → 1308

LDLa; Low-density lipoprotein receptor domain class A

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:1325 → 1359

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

pfam15901
Location:588 → 753

Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal