Sort1 sortilin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sort1provided by MGI
Official Full Name: sortilin 1provided by MGI
Primary source: MGI:MGI:1338015
See related: Ensembl:ENSMUSG00000068747 AllianceGenome:MGI:1338015
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: Ntr3; Ntsr3; 2900053A11Rik
Summary: Predicted to enable several functions, including nerve growth factor binding activity; nerve growth factor receptor activity; and neurotensin receptor activity, non-G protein-coupled. Involved in several processes, including glucose import; myotube differentiation; and response to insulin. Acts upstream of or within endocytosis; negative regulation of fat cell differentiation; and protein targeting to lysosome. Located in cytoplasmic vesicle membrane; plasma membrane; and trans-Golgi network transport vesicle. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; eye; and genitourinary system. Orthologous to human SORT1 (sortilin 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in genital fat pad adult (RPKM 112.8), lung adult (RPKM 52.3) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F3; 3 46.9 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (108191272..108268835)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (108283974..108361519)

Chromosome 3 - NC_000069.7 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sortilin acts as an endocytic receptor for alpha-synuclein fibril.
Title: Sortilin acts as an endocytic receptor for α-synuclein fibril.
Sortilin deletion in the prefrontal cortex and hippocampus ameliorates depressive-like behaviors in mice via regulating ASM/ceramide signaling.
Title: Sortilin deletion in the prefrontal cortex and hippocampus ameliorates depressive-like behaviors in mice via regulating ASM/ceramide signaling.
Targeting the ASMase/S1P pathway protects from sortilin-evoked vascular damage in hypertension.
Title: Targeting the ASMase/S1P pathway protects from sortilin-evoked vascular damage in hypertension.
ApoE4 disrupts interaction of sortilin with fatty acid-binding protein 7 essential to promote lipid signaling.
Title: ApoE4 disrupts interaction of sortilin with fatty acid-binding protein 7 essential to promote lipid signaling.
Apolipoprotein E4 disrupts the neuroprotective action of sortilin in neuronal lipid metabolism and endocannabinoid signaling.
Title: Apolipoprotein E4 disrupts the neuroprotective action of sortilin in neuronal lipid metabolism and endocannabinoid signaling.
PCBP2 post-transcriptionally regulates sortilin expression by binding to a C-rich element in its 3' UTR.
Title: PCBP2 post-transcriptionally regulates sortilin expression by binding to a C-rich element in its 3' UTR.
Sortilin regulates keratinocyte proliferation and apoptosis through the PI3K-AKT signaling pathway.
Title: Sortilin regulates keratinocyte proliferation and apoptosis through the PI3K-AKT signaling pathway.
Identification of Sortilin Alternatively Spliced Variants in Mouse 3T3L1 Adipocytes.
Title: Identification of Sortilin Alternatively Spliced Variants in Mouse 3T3L1 Adipocytes.
Hepatocyte sortilin 1 knockout and treatment with a sortilin 1 inhibitor reduced plasma cholesterol in Western diet-fed mice
Title: Hepatocyte sortilin 1 knockout and treatment with a sortilin 1 inhibitor reduced plasma cholesterol in Western diet-fed mice.
The Rac-p21-activated kinases 1 to 3 (PAK1-3) have a direct impact on sortilin and each of the three group A kinases binds and phosphorylates a serine residue positioned in a sorting motif within the sortilin cytoplasmic domain.
Title: PAK Kinases Target Sortilin and Modulate Its Sorting.

Submit: New GeneRIF Correction See all GeneRIFs (67)

Variation

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Alleles

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

Gene trapped (1)
Targeted (9) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI852375 (e-PCR)
- UniSTS:164222

Sort1 (e-PCR), detects polymorphism
- UniSTS:546039

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables nerve growth factor binding	ISO Inferred from Sequence Orthology more info
enables nerve growth factor receptor activity	ISO Inferred from Sequence Orthology more info
enables neurotensin receptor activity, non-G protein-coupled	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables retromer complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in Golgi to endosome transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in Golgi to endosome transport	ISO Inferred from Sequence Orthology more info
involved_in Golgi to lysosome transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocytosis	ISO Inferred from Sequence Orthology more info
involved_in endosome to lysosome transport	ISO Inferred from Sequence Orthology more info
involved_in endosome transport via multivesicular body sorting pathway	ISO Inferred from Sequence Orthology more info
involved_in extrinsic apoptotic signaling pathway via death domain receptors	ISO Inferred from Sequence Orthology more info
involved_in glucose import	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucose import	ISO Inferred from Sequence Orthology more info
involved_in maintenance of synapse structure	IDA Inferred from Direct Assay more info	PubMed
involved_in maintenance of synapse structure	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in myotube differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myotube differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of fat cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of lipoprotein lipase activity	ISO Inferred from Sequence Orthology more info
involved_in neuropeptide signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in neurotrophin TRK receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within ossification	IEA Inferred from Electronic Annotation more info
involved_in plasma membrane to endosome transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of epithelial cell apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein targeting to lysosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in response to insulin	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to insulin	ISO Inferred from Sequence Orthology more info
involved_in vesicle organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle organization	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 cell surface	ISO Inferred from Sequence Orthology more info
is_active_in cerebellar climbing fiber to Purkinje cell synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in cerebellar climbing fiber to Purkinje cell synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in clathrin-coated pit	ISO Inferred from Sequence Orthology more info
located_in clathrin-coated vesicle	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in endosome membrane	ISO Inferred from Sequence Orthology more info
located_in lysosome	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in trans-Golgi network transport vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: sortilin

Names: mNTR3; neurotensin receptor 3

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.

mRNA and Protein(s)

NM_001271599.1 → NP_001258528.1 sortilin isoform 1 precursor

See identical proteins and their annotated locations for NP_001258528.1

Status: VALIDATED

Description

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

Source sequence(s)

AK147442, AL671899, BP762146, CJ177243

Consensus CDS

CCDS80003.1

UniProtKB/Swiss-Prot

Q6PHU5

Related

ENSMUSP00000123564.3, ENSMUST00000135636.6

Conserved Domains (2) summary

smart00602
Location:131 → 739

VPS10; VPS10 domain

pfam15901
Location:572 → 739

Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
NM_019972.3 → NP_064356.2 sortilin isoform 2 precursor

See identical proteins and their annotated locations for NP_064356.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

BC056343, BP762146, CJ177243

Consensus CDS

CCDS17756.1

UniProtKB/Swiss-Prot

A2AEE8, Q3UHE2, Q6PHU5, Q8K043, Q9QXW6

Related

ENSMUSP00000099692.5, ENSMUST00000102632.7

Conserved Domains (2) summary

smart00602
Location:131 → 739

VPS10; VPS10 domain

pfam15901
Location:572 → 739

Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

108191272..108268835

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006501223.5 → XP_006501286.3 sortilin isoform X1
XM_006501224.5 → XP_006501287.3 sortilin isoform X2

Conserved Domains (1) summary

smart00602
Location:188 → 795

VPS10; VPS10 domain
XM_030252513.2 → XP_030108373.1 sortilin isoform X3

Conserved Domains (1) summary

smart00602
Location:22 → 570

VPS10; VPS10 domain
XM_030252515.2 → XP_030108375.1 sortilin isoform X4

Conserved Domains (1) summary

smart00602
Location:22 → 569

VPS10; VPS10 domain