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Aliases for SORT1 Gene

Aliases for SORT1 Gene

  • Sortilin 1 2 3
  • NT3 3 4 6
  • Neurotensin Receptor 3 3 4
  • 100 KDa NT Receptor 3 4
  • Glycoprotein 95 3 4
  • LDLCQ6 3 6
  • Gp95 3 4
  • NTR3 3 4
  • Sortilin 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 protein that is a multi-ligand type-1 receptor with similarity to the yeast carboxypeptidase Y sorting receptor Vps10 protein. The encoded protein, a trans-Golgi network (TGN) transmembrane protein, binds a number of unrelated ligands that participate in a wide range of cellular processes; however, it lacks the typical features of a signalling receptor. In the TGN, furin mediates the activation of the mature binding form. The encoded protein consists of a large luminal domain, a single transmembrane segment and short C-terminal cytoplasmic tail. The luminal domain contains a cysteine-rich region similar to two corresponding segments in the yeast Vps10p; the cytoplasmic tail is similar to the corresponding segment of the cation-independent mannose 6-phosphate receptor and the tail also interacts with the VHS domains of GGA (Golgi-associated, gamma-adaptin homologous, ARF-interacting) proteins. [provided by RefSeq, Jul 2008]

GeneCards Summary for SORT1 Gene

SORT1 (Sortilin 1) is a Protein Coding gene. Diseases associated with SORT1 include cerebral artery occlusion. Among its related pathways are Lysosome and Development HGF signaling pathway. GO annotations related to this gene include enzyme binding and nerve growth factor receptor activity. An important paralog of this gene is SORCS2.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SORT1 Gene

Genomics for SORT1 Gene

Regulatory Elements for SORT1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SORT1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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, NTS and PSAP. 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.

    Three dimensional structures from OCA and Proteopedia for SORT1 Gene

    Alternative splice isoforms for SORT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SORT1 Gene

Proteomics data for SORT1 Gene at MOPED

Post-translational modifications for SORT1 Gene

  • The N-terminal propeptide is cleaved by furin and possibly other homologous proteases.
  • Glycosylation at Asn98, Asn162, Asn163, Asn274, Asn406, Asn582, and Asn684
  • Modification sites at PhosphoSitePlus

Other Protein References for SORT1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SORT1 Gene

Domains for SORT1 Gene

Protein Domains for SORT1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SORT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q99523

UniProtKB/Swiss-Prot:

SORT_HUMAN :
  • Q99523
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.
Similarity:
  • Contains 9 BNR repeats.
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

CRISPR Products

miRNA for SORT1 Gene

miRTarBase miRNAs that target SORT1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SORT1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for SORT1 Gene COMPARTMENTS Subcellular localization image for SORT1 gene
Compartment Confidence
endoplasmic reticulum 5
endosome 5
golgi apparatus 5
lysosome 5
nucleus 5
plasma membrane 5
vacuole 5
cytosol 4
extracellular 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for SORT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005764 lysosome --
GO:0005765 lysosomal membrane IEA --
GO:0005769 early endosome IDA 11331584
GO:0005783 endoplasmic reticulum --
genes like me logo Genes that share ontologies with SORT1: view

Pathways for SORT1 Gene

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

Pathways by source for SORT1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for SORT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0006895 Golgi to endosome transport IDA 11331584
GO:0006897 endocytosis IDA 11331584
GO:0007186 G-protein coupled receptor signaling pathway IMP 18258592
GO:0007218 neuropeptide signaling pathway IDA 9756851
genes like me logo Genes that share ontologies with SORT1: view

Compounds for SORT1 Gene

(1) HMDB Compounds for SORT1 Gene

Compound Synonyms Cas Number PubMed IDs
Mannose 6-phosphate
  • D-Mannose 6-phosphate
3672-15-9

(2) Novoseek inferred chemical compound relationships for SORT1 Gene

Compound -log(P) Hits PubMed IDs
tyrosine 19.2 1
glutamate 0 2
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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SORT1

Primer Products

Flow Cytometry 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 for SORT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues 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 from ProteomicsDB, PaxDb, MOPED, and MaxQB for SORT1 Gene

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.
genes like me logo Genes that share expressions with SORT1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Expression partners 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
cow
(Bos Taurus)
Mammalia SORT1 35
  • 91.58 (n)
  • 94.58 (a)
SORT1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SORT1 35
  • 91.24 (n)
  • 93.34 (a)
SORT1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sort1 35
  • 87.76 (n)
  • 91.52 (a)
Sort1 16
Sort1 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SORT1 35
  • 99.84 (n)
  • 100 (a)
SORT1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sort1 35
  • 87.6 (n)
  • 91.64 (a)
oppossum
(Monodelphis domestica)
Mammalia SORT1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SORT1 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SORT1 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sort1 35
  • 65.07 (n)
  • 64.1 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17947 35
zebrafish
(Danio rerio)
Actinopterygii sort1a 35
  • 66.22 (n)
  • 66.18 (a)
SORT1 (2 of 3) 36
  • 44 (a)
OneToMany
sort1a 36
  • 62 (a)
OneToMany
sort1b 36
  • 60 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 16 (a)
ManyToMany
-- 36
  • 21 (a)
ManyToMany
-- 36
  • 15 (a)
ManyToMany
-- 36
  • 6 (a)
ManyToMany
-- 36
  • 15 (a)
ManyToMany
PEP1 36
  • 9 (a)
ManyToMany
VTH1 36
  • 8 (a)
ManyToMany
VTH2 36
  • 8 (a)
ManyToMany
VTH2 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4778 36
  • 32 (a)
OneToOne
Species with no ortholog for SORT1:
  • 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

Q99523-SORT_HUMAN
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 MAF
rs11142 -- 109,354,481(-) ATCTT(C/T)AGATC synonymous-codon, reference
rs370088 -- 109,315,497(+) CACAC(C/T)CACAC intron-variant
rs459533 -- 109,313,130(+) TGTGT(A/G)CCCGA utr-variant-3-prime
rs461200 -- 109,312,782(+) AGAGA(A/G)GTATC utr-variant-3-prime
rs464218 -- 109,313,684(-) CATGG(C/T)GCCTG utr-variant-3-prime

Relevant External Links for SORT1 Gene

HapMap Linkage Disequilibrium report
SORT1
Human Gene Mutation Database (HGMD)
SORT1

No data available for Structural Variations from Database of Genomic Variants (DGV) for SORT1 Gene

Disorders for SORT1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for SORT1 Gene in MalaCards »

(1) Diseases for SORT1 Gene including...

(1) OMIM Diseases for SORT1 Gene (602458)

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.

(1) University of Copenhagen DISEASES for SORT1 Gene

(2) Novoseek inferred disease relationships for SORT1 Gene

Disease -log(P) Hits PubMed IDs
tumors 0 1
cancer 0 2

Relevant External Links for SORT1

Genetic Association Database (GAD)
SORT1
Human Genome Epidemiology (HuGE) Navigator
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. 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 23
  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 23
  3. 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 23
  4. Propeptide cleavage conditions sortilin/neurotensin receptor-3 for ligand binding. (PMID: 9927419) Petersen C.M. … Madsen P. (EMBO J. 1999) 3 4 23
  5. Molecular and structural insight into proNGF engagement of p75NTR and sortilin. (PMID: 20036257) Feng D. … Garcia K.C. (J. Mol. Biol. 2010) 3 23

Products for SORT1 Gene

Sources for SORT1 Gene

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