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Aliases for SORT1 Gene

Aliases for SORT1 Gene

  • Sortilin 1 2 3 5
  • Neurotensin Receptor 3 3 4
  • 100 KDa NT Receptor 3 4
  • Glycoprotein 95 3 4
  • Gp95 3 4
  • NTR3 3 4
  • NT3 3 4
  • Sortilin 3
  • LDLCQ6 3

External Ids for SORT1 Gene

Previous GeneCards Identifiers for SORT1 Gene

  • GC01M110335
  • GC01M108785
  • GC01M108957
  • GC01M109155
  • GC01M109568
  • GC01M109653
  • GC01M109852
  • GC01M107745

Summaries for SORT1 Gene

Entrez Gene Summary for SORT1 Gene

  • 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]

GeneCards Summary for SORT1 Gene

SORT1 (Sortilin 1) is a Protein Coding gene. Diseases associated with SORT1 include Inclusion-Cell Disease and Myocardial Infarction. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. GO annotations related to this gene include enzyme binding and nerve growth factor receptor activity. An important paralog of this gene is SORCS3.

UniProtKB/Swiss-Prot for SORT1 Gene

  • Functions as a sorting receptor in the Golgi compartment and as a clearance receptor on the cell surface. Required for protein transport from the Golgi apparatus to the lysosomes by a pathway that is independent of the mannose-6-phosphate receptor (M6PR). Also required for protein transport from the Golgi apparatus to the endosomes. Promotes neuronal apoptosis by mediating endocytosis of the proapoptotic precursor forms of BDNF (proBDNF) and NGFB (proNGFB). Also acts as a receptor for neurotensin. May promote mineralization of the extracellular matrix during osteogenic differentiation by scavenging extracellular LPL. Probably required in adipocytes for the formation of specialized storage vesicles containing the glucose transporter SLC2A4/GLUT4 (GLUT4 storage vesicles, or GSVs). These vesicles provide a stable pool of SLC2A4 and confer increased responsiveness to insulin. May also mediate transport from the endoplasmic reticulum to the Golgi.

Gene Wiki entry for SORT1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SORT1 Gene

Genomics for SORT1 Gene

Regulatory Elements for SORT1 Gene

Enhancers for SORT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G109272 2.1 VISTA Ensembl ENCODE dbSUPER 11.6 +122.1 122107 6.3 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 CELSR2 PRPF38B SORT1 ENSG00000258634 RPL17P7 PSRC1 RPL7P8 PIR46363
GH01G109238 1.5 Ensembl ENCODE dbSUPER 11.1 +157.7 157720 3.7 HDGF PKNOX1 ARNT AGO1 ARID4B SIN3A ZNF2 ZBTB7B GLIS2 ZNF143 SORT1 SARS CELSR2 KIAA1324 PIR56087
GH01G109132 1.5 Ensembl ENCODE dbSUPER 10.3 +261.7 261687 7.4 PKNOX1 ATF1 CREB3L1 ARNT ARID4B E2F7 FEZF1 TCF12 ZNF766 ELK1 TMEM167B SARS SORT1 C1orf194 KIAA1324 GPSM2 GC01M109207
GH01G109213 1.4 ENCODE dbSUPER 10.3 +182.9 182895 3.6 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 GNAI3 SORT1 ENSG00000258634 PSRC1 MYBPHL CELSR2 GC01M109214 GC01P109222
GH01G109389 2 FANTOM5 Ensembl ENCODE dbSUPER 5.5 +3.5 3493 10.7 CREB3L1 MLX AGO1 ZFP64 DMAP1 SLC30A9 SP3 NFYC TBX21 MEF2D SYPL2 PSRC1 MYBPHL SARS AMIGO1 ATXN7L2 SORT1 TMEM167B GSTM3 GNAI3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SORT1 on UCSC Golden Path with GeneCards custom track

Promoters for SORT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000011077 351 1601 HDGF PKNOX1 ATF1 CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF48

Genomic Location for SORT1 Gene

Chromosome:
1
Start:
109,309,565 bp from pter
End:
109,397,951 bp from pter
Size:
88,387 bases
Orientation:
Minus strand

Genomic View for SORT1 Gene

Genes around SORT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SORT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SORT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SORT1 Gene

Proteins for SORT1 Gene

  • Protein details for SORT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99523-SORT_HUMAN
    Recommended name:
    Sortilin
    Protein Accession:
    Q99523
    Secondary Accessions:
    • B4DWI3
    • C0JYZ0
    • Q8IZ49

    Protein attributes for SORT1 Gene

    Size:
    831 amino acids
    Molecular mass:
    92068 Da
    Quaternary structure:
    • Interacts with LPL and SLC2A4 (By similarity). Interacts with the cytosolic adapter proteins GGA1 and GGA2. Interacts with numerous ligands including the receptor-associated protein LRPAP1/RAP, GM2A and NTS. Forms a complex with NGFR which binds specifically to the precursor forms of NGFB (proNGFB) and BDNF (proBDNF). Interacts with the Trk receptors NTRK1, NTRK2 and NTRK3; may regulate their anterograde axonal transport and signaling. Interacts with CLN5 (PubMed:22431521). Interacts with PSAP (PubMed:22431521, PubMed:14657016).

    Three dimensional structures from OCA and Proteopedia for SORT1 Gene

    Alternative splice isoforms for SORT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SORT1 Gene

Post-translational modifications for SORT1 Gene

  • The N-terminal propeptide is cleaved by furin and possibly other homologous proteases.
  • Glycosylation at Asn98, Asn162, isoforms=2163, isoforms=2274, isoforms=2406, Asn582, and isoforms=2684
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cloud-Clone Corp. Antibodies for SORT1

No data available for DME Specific Peptides for SORT1 Gene

Domains & Families for SORT1 Gene

Protein Domains for SORT1 Gene

Suggested Antigen Peptide Sequences for SORT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q99523

UniProtKB/Swiss-Prot:

SORT_HUMAN :
  • The N-terminal propeptide may facilitate precursor transport within the Golgi stack. Intrachain binding of the N-terminal propeptide and the extracellular domain may also inhibit premature ligand binding.
  • Belongs to the VPS10-related sortilin family. SORT1 subfamily.
Domain:
  • The N-terminal propeptide may facilitate precursor transport within the Golgi stack. Intrachain binding of the N-terminal propeptide and the extracellular domain may also inhibit premature ligand binding.
  • The extracellular domain may be shed following protease cleavage in some cell types.
Family:
  • Belongs to the VPS10-related sortilin family. SORT1 subfamily.
genes like me logo Genes that share domains with SORT1: view

No data available for Gene Families for SORT1 Gene

Function for SORT1 Gene

Molecular function for SORT1 Gene

UniProtKB/Swiss-Prot Function:
Functions as a sorting receptor in the Golgi compartment and as a clearance receptor on the cell surface. Required for protein transport from the Golgi apparatus to the lysosomes by a pathway that is independent of the mannose-6-phosphate receptor (M6PR). Also required for protein transport from the Golgi apparatus to the endosomes. Promotes neuronal apoptosis by mediating endocytosis of the proapoptotic precursor forms of BDNF (proBDNF) and NGFB (proNGFB). Also acts as a receptor for neurotensin. May promote mineralization of the extracellular matrix during osteogenic differentiation by scavenging extracellular LPL. Probably required in adipocytes for the formation of specialized storage vesicles containing the glucose transporter SLC2A4/GLUT4 (GLUT4 storage vesicles, or GSVs). These vesicles provide a stable pool of SLC2A4 and confer increased responsiveness to insulin. May also mediate transport from the endoplasmic reticulum to the Golgi.
UniProtKB/Swiss-Prot Induction:
During osteoblast differentiation.

Gene Ontology (GO) - Molecular Function for SORT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10085125
GO:0010465 nerve growth factor receptor activity IDA 14985763
GO:0019899 enzyme binding IPI 10085125
GO:0030379 neurotensin receptor activity, non-G-protein coupled IDA 9756851
GO:0048406 nerve growth factor binding IPI 14985763
genes like me logo Genes that share ontologies with SORT1: view
genes like me logo Genes that share phenotypes with SORT1: view

Animal Models for SORT1 Gene

MGI Knock Outs for SORT1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SORT1

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SORT1 Gene

Localization for SORT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SORT1 Gene

Membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Endosome membrane; Single-pass type I membrane protein. Golgi apparatus, Golgi stack membrane; Single-pass type I membrane protein. Nucleus membrane; Single-pass type I membrane protein. Cell membrane; Single-pass type I membrane protein; Extracellular side. Lysosome membrane; Single-pass type I membrane protein. Note=Localized to membranes of the endoplasmic reticulum, endosomes, Golgi stack, lysosomes and nucleus. A small fraction of the protein is also localized to the plasma membrane. May also be found in SLC2A4/GLUT4 storage vesicles (GSVs) in adipocytes. Localization to the plasma membrane in adipocytes may be enhanced by insulin.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SORT1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
golgi apparatus 5
endosome 5
endoplasmic reticulum 4
lysosome 4
nucleus 3
extracellular 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for SORT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IDA 11331584
genes like me logo Genes that share ontologies with SORT1: view

Pathways & Interactions for SORT1 Gene

genes like me logo Genes that share pathways with SORT1: view

Gene Ontology (GO) - Biological Process for SORT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0006810 transport IEA --
GO:0006895 Golgi to endosome transport IDA 11331584
GO:0006897 endocytosis IDA 11331584
GO:0007186 G-protein coupled receptor signaling pathway IMP 18258592
genes like me logo Genes that share ontologies with SORT1: view

No data available for SIGNOR curated interactions for SORT1 Gene

Drugs & Compounds for SORT1 Gene

(1) Drugs for SORT1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for SORT1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Mannose 6-phosphate
  • alpha-D-Mannose-6-P
  • alpha-D-Mannose-6-phosphate
  • alpha-delta-Mannose-6-P
  • alpha-delta-Mannose-6-phosphate
  • D-Mannose 6-phosphate
3672-15-9
genes like me logo Genes that share compounds with SORT1: view

Transcripts for SORT1 Gene

Unigene Clusters for SORT1 Gene

Sortilin 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SORT1 Gene

No ASD Table

Relevant External Links for SORT1 Gene

GeneLoc Exon Structure for
SORT1
ECgene alternative splicing isoforms for
SORT1

Expression for SORT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SORT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SORT1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.8), Amniocyte (8.4), and Spinal cord (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SORT1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SORT1 Gene:

SORT1

SOURCE GeneReport for Unigene cluster for SORT1 Gene:

Hs.485195

mRNA Expression by UniProt/SwissProt for SORT1 Gene:

Q99523-SORT_HUMAN
Tissue specificity: Expressed in brain and prostate (at protein level). Expressed at high levels in brain, spinal cord, heart, skeletal muscle, thyroid, placenta and testis. Expressed at lower levels in lymphoid organs, kidney, colon and liver.

Evidence on tissue expression from TISSUES for SORT1 Gene

  • Nervous system(5)
  • Muscle(4.5)
  • Blood(4.4)
  • Lung(3.3)
  • Skin(2.5)
  • Heart(2.4)
  • Kidney(2.2)
  • Eye(2.1)
  • Liver(2.1)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with SORT1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SORT1 Gene

Orthologs for SORT1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SORT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SORT1 34 35
  • 99.84 (n)
cow
(Bos Taurus)
Mammalia SORT1 34 35
  • 91.58 (n)
dog
(Canis familiaris)
Mammalia SORT1 34 35
  • 91.24 (n)
mouse
(Mus musculus)
Mammalia Sort1 34 16 35
  • 87.76 (n)
rat
(Rattus norvegicus)
Mammalia Sort1 34
  • 87.6 (n)
oppossum
(Monodelphis domestica)
Mammalia SORT1 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SORT1 35
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SORT1 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sort1 34
  • 65.07 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17947 34
zebrafish
(Danio rerio)
Actinopterygii sort1a 34 35
  • 66.22 (n)
sort1b 35
  • 60 (a)
OneToMany
SORT1 (2 of 3) 35
  • 44 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
  • 21 (a)
ManyToMany
-- 35
  • 16 (a)
ManyToMany
-- 35
  • 15 (a)
ManyToMany
-- 35
  • 15 (a)
ManyToMany
PEP1 35
  • 9 (a)
ManyToMany
VTH1 35
  • 8 (a)
ManyToMany
VTH2 35 37
  • 8 (a)
ManyToMany
-- 35
  • 6 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4778 35
  • 32 (a)
OneToOne
Species where no ortholog for SORT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SORT1 Gene

ENSEMBL:
Gene Tree for SORT1 (if available)
TreeFam:
Gene Tree for SORT1 (if available)

Paralogs for SORT1 Gene

Paralogs for SORT1 Gene

genes like me logo Genes that share paralogs with SORT1: view

Variants for SORT1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SORT1 Gene

SORT_HUMAN-Q99523
Genetic variations in SORT1 influence low density lipoprotein cholesterol (LDL-C) variability and contribute to the low density lipoprotein cholesterol level quantitative trait locus 6 (LDLCQ6) [MIM:613589].

Sequence variations from dbSNP and Humsavar for SORT1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000022847 -- 109,361,699(+) GAAAG(A/C)TTATA intron-variant
rs1000059151 -- 109,313,680(+) GGGGC(A/C)GGCGC utr-variant-3-prime
rs1000078040 -- 109,355,387(+) AGGAC(A/C)AATAG reference, missense
rs1000115090 -- 109,323,635(+) TGACC(A/G)GCTCT intron-variant
rs1000246977 -- 109,373,285(+) GGAAG(C/T)TGATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SORT1 Gene

Variant ID Type Subtype PubMed ID
dgv252n100 CNV gain 25217958
esv3567303 CNV deletion 23714750
nsv1003653 CNV gain 25217958
nsv1118121 CNV deletion 24896259
nsv951390 CNV duplication 24416366

Variation tolerance for SORT1 Gene

Residual Variation Intolerance Score: 48.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.82; 47.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SORT1 Gene

Human Gene Mutation Database (HGMD)
SORT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SORT1

Disorders for SORT1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SORT1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
inclusion-cell disease
  • i-cell disease
myocardial infarction
  • myocardial infarction, protection against
- elite association - COSMIC cancer census association via MalaCards
Search SORT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SORT_HUMAN
  • Note=A common polymorphism located in a non-coding region between CELSR2 and PSRC1 alters a CEBP transcription factor binding site and is responsible for changes in hepatic expression of SORT1. Altered SORT1 expression in liver affects low density lipoprotein cholesterol levels in plasma and is associated with susceptibility to myocardial infarction.

Relevant External Links for SORT1

Genetic Association Database (GAD)
SORT1
Human Genome Epidemiology (HuGE) Navigator
SORT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SORT1
genes like me logo Genes that share disorders with SORT1: view

No data available for Genatlas for SORT1 Gene

Publications for SORT1 Gene

  1. Internalization and trafficking of neurotensin via NTS3 receptors in HT29 cells. (PMID: 15313463) Morinville A. … Mazella J. (Int. J. Biochem. Cell Biol. 2004) 3 4 22 64
  2. Involvement of the neurotensin receptor-3 in the neurotensin-induced migration of human microglia. (PMID: 12598608) Martin S. … Mazella J. (J. Neurosci. 2003) 3 4 22 64
  3. Shedding of the luminal domain of the neurotensin receptor-3/sortilin in the HT29 cell line. (PMID: 12419319) Navarro V. … Mazella J. (Biochem. Biophys. Res. Commun. 2002) 3 4 22 64
  4. Propeptide cleavage conditions sortilin/neurotensin receptor-3 for ligand binding. (PMID: 9927419) Petersen C.M. … Madsen P. (EMBO J. 1999) 3 4 22 64
  5. The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting. (PMID: 22431521) Mamo A. … Lefrancois S. (Mol. Cell. Biol. 2012) 3 4 64

Products for SORT1 Gene

Sources for SORT1 Gene

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