SORT1 sortilin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SORT1provided by HGNC
Official Full Name: sortilin 1provided by HGNC
Primary source: HGNC:HGNC:11186
See related: Ensembl:ENSG00000134243 MIM:602458; AllianceGenome:HGNC:11186
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: NT3; Gp95; NTR3; LDLCQ6
Summary: This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Expression: Broad expression in brain (RPKM 47.1), testis (RPKM 30.3) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p13.3; 1p21.3-p13.1

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (109309575..109397918, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (109342381..109430699, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (109852197..109940540, complement)

Chromosome 1 - NC_000001.11 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 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?

Diagnostic utility of sortilin & other biomarkers in the diagnosis of carotid & coronary atherosclerosis in individuals with arterial hypertension.
Title: Diagnostic utility of sortilin & other biomarkers in the diagnosis of carotid & coronary atherosclerosis in individuals with arterial hypertension.
Elevated sortilin expression discriminates functional from non-functional neuroendocrine tumors and enables therapeutic targeting.
Title: Elevated sortilin expression discriminates functional from non-functional neuroendocrine tumors and enables therapeutic targeting.
The association of Sort1 expression with LDL subfraction and inflammation in patients with coronary artery disease.
Title: The association of Sort1 expression with LDL subfraction and inflammation in patients with coronary artery disease.
Sortilin Expression Levels and Peripheral Immunity: A Potential Biomarker for Segregation between Parkinson's Disease Patients and Healthy Controls.
Title: Sortilin Expression Levels and Peripheral Immunity: A Potential Biomarker for Segregation between Parkinson's Disease Patients and Healthy Controls.
Missense variants in SORT1 are associated with LDL-C in an Amish population.
Title: Missense variants in SORT1 are associated with LDL-C in an Amish population.
Sortilin-Driven Cancer Secretome Enhances Tumorigenic Properties of Hepatocellular Carcinoma via de Novo Lipogenesis.
Title: Sortilin-Driven Cancer Secretome Enhances Tumorigenic Properties of Hepatocellular Carcinoma via de Novo Lipogenesis.
Inductive effect of SORT1 on odontoblastic differentiation of human dental pulp-derived stem cells.
Title: Inductive effect of SORT1 on odontoblastic differentiation of human dental pulp-derived stem cells.
Dynamic interplay between sortilin and syndecan-1 contributes to prostate cancer progression.
Title: Dynamic interplay between sortilin and syndecan-1 contributes to prostate cancer progression.
Serum sortilin as a predictor of stroke in patients with intermediate carotid artery stenosis.
Title: Serum sortilin as a predictor of stroke in patients with intermediate carotid artery stenosis.
Aberrant protein expression of Appl1, Sortilin and Syndecan-1 during the biological progression of prostate cancer.
Title: Aberrant protein expression of Appl1, Sortilin and Syndecan-1 during the biological progression of prostate cancer.

Submit: New GeneRIF Correction See all GeneRIFs (130)

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

Associated conditions

Description	Tests
Low density lipoprotein cholesterol level quantitative trait locus 6 MedGen: C3150834 OMIM: 613589 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at 30 loci contribute to polygenic dyslipidemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association of lipid-lowering response to statins in combined study populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
New loci associated with kidney function and chronic kidney disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. EBI GWAS Catalog EBI GWAS CatalogPubMed
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with SORT1; predicted interaction to be within the endoplasmic reticulum to Golgi transport	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

WI-14018 (e-PCR)
- UniSTS:10538

SHGC-75262 (e-PCR)
- UniSTS:56380

SHGC-75270 (e-PCR)
- UniSTS:67931

SHGC-75268 (e-PCR)
- UniSTS:52594

AL034289 (e-PCR)
- UniSTS:94112

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in D-glucose import	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Golgi to endosome transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in Golgi to endosome transport	IDA Inferred from Direct Assay more info	PubMed
involved_in Golgi to lysosome transport	IDA Inferred from Direct Assay more info	PubMed
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in endosome to lysosome transport	IDA Inferred from Direct Assay more info	PubMed
involved_in endosome transport via multivesicular body sorting pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in extrinsic apoptotic signaling pathway via death domain receptors	IDA Inferred from Direct Assay more info	PubMed
involved_in maintenance of synapse structure	IEA Inferred from Electronic Annotation more info
involved_in myotube differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of lipoprotein lipase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in nerve growth factor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in neuropeptide signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in neurotrophin TRK receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ossification	IEA Inferred from Electronic Annotation more info
involved_in plasma membrane to endosome transport	IDA Inferred from Direct Assay more info	PubMed
involved_in protein targeting to lysosome	IEA Inferred from Electronic Annotation more info
involved_in regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to insulin	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle organization	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 membrane	IEA Inferred from Electronic Annotation more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cerebellar climbing fiber to Purkinje cell synapse	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated pit	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in lysosome	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 nuclear membrane	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in trans-Golgi network transport vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: sortilin

Names: 100 kDa NT receptor; glycoprotein 95; 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.

Genomic

NG_028280.1 RefSeqGene

Range

5024..93367

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001205228.2 → NP_001192157.1 sortilin isoform 2

See identical proteins and their annotated locations for NP_001192157.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1.The resulting isoform (2) is shorter at the N-terminus and lacks an internal aa compared to isoform 1.

Source sequence(s)

AK301548, AL390252, BC023542, DA023768, DB045034

Consensus CDS

CCDS55618.1

UniProtKB/TrEMBL

A8KAQ3

Related

ENSP00000438597.1, ENST00000538502.5

Conserved Domains (2) summary

smart00602
Location:1 → 604

VPS10; VPS10 domain

pfam15901
Location:437 → 604

Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
NM_002959.7 → NP_002950.3 sortilin isoform 1 preproprotein

See identical proteins and their annotated locations for NP_002950.3

Status: REVIEWED

Description

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

Source sequence(s)

AL390252, BC023542, DA023768, DB045034

Consensus CDS

CCDS798.1

UniProtKB/Swiss-Prot

B4DWI3, C0JYZ0, Q8IZ49, Q99523

UniProtKB/TrEMBL

A8KAQ3

Related

ENSP00000256637.6, ENST00000256637.8

Conserved Domains (2) summary

smart00602
Location:133 → 741

VPS10; VPS10 domain

pfam15901
Location:574 → 741

Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

109309575..109397918 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005271100.3 → XP_005271157.1 sortilin isoform X1

UniProtKB/TrEMBL

A8KAQ3

Conserved Domains (2) summary

smart00602
Location:133 → 740

VPS10; VPS10 domain

pfam15901
Location:573 → 740

Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal
XM_005271101.4 → XP_005271158.1 sortilin isoform X2

See identical proteins and their annotated locations for XP_005271158.1

UniProtKB/TrEMBL

A8KAQ3

Conserved Domains (2) summary

smart00602
Location:1 → 605

VPS10; VPS10 domain

pfam15901
Location:438 → 605

Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal