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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 ... See more...
Aliases for SORT1 Gene
Aliases for SORT1 Gene
External Ids for SORT1 Gene
- HGNC: 11186
- Entrez Gene: 6272
- Ensembl: ENSG00000134243
- OMIM: 602458
- UniProtKB: Q99523
Previous GeneCards Identifiers for SORT1 Gene
- GC01M110335
- GC01M108785
- GC01M108957
- GC01M109155
- GC01M109568
- GC01M109653
- GC01M109852
- GC01M107745
Summaries 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 Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 and Myocardial Infarction. Among its related pathways are Lysosome and Clathrin derived vesicle budding. Gene Ontology (GO) annotations related to this gene include enzyme binding and nerve growth factor receptor activity. An important paralog of this gene is SORL1.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for SORT1 Gene
- HGNC(11186)
- Entrez Gene(6272)
- Ensembl(ENSG00000134243)
- OMIM(602458)
- UniProtKB(Q99523)
- Open Targets Platform(ENSG00000134243)
- Monarch Initiative
- Search for SORT1 at DataMed
- Search for SORT1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SORT1 Gene
Genomics for SORT1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SORT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SORT1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SORT1
- Top Transcription factor binding sites by QIAGEN in the SORT1 gene promoter:
-
- aMEF-2
- AREB6
- MEF-2A
- NF-E2
- NF-kappaB1
- Nkx2-5
- Pbx1a
- TBP
- TFIID
Genomic Locations for SORT1 Gene
Genomic Locations for SORT1 Gene
- chr1:109,309,565-109,397,940
- (GRCh38/hg38)
- Size:
- 88,376 bases
- Orientation:
- Minus strand
- chr1:109,852,187-109,940,573
- (GRCh37/hg19)
- 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:
-
- 1p13.3 by HGNC
- 1p13.3|1p21.3-p13.1 by Entrez Gene
- 1p13.3 by Ensembl
SORT1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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 (PubMed:20015111). 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). Interacts with GRN; this interaction mediates endocytosis and lysosome delivery of progranulin; interaction occurs at the neuronal cell surface in a stressed nervous system (PubMed:21092856).
Three dimensional structures from OCA and Proteopedia for SORT1 Gene
Protein Expression for SORT1 Gene
Post-translational modifications for SORT1 Gene
- The N-terminal propeptide is cleaved by furin and possibly other homologous proteases.
- Phosphorylation at Ser-825 facilitates the interaction with GGA1.
-
Glycosylation at Asn162, Asn98, Asn274, Asn406, Asn582, and Asn684
- NX_Q99523 (NX_Q99523-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- SORT_HUMAN (1765)
Other Protein References for SORT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Alomone Labs, Ltd. Anti-Sortilin (extracellular)-FITC Antibody
- Novus Biologicals Antibodies for SORT1
- Invitrogen Antibodies for SORT1 (AFLGC-Sort1)
- antibodies-online: Show 56 available Sortilin 1 Antibodies ranked by validation data
- Compare Top Sortilin 1 Antibodies
-
Recommended
- 41 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 8 FACS Antibodies (anti-human)
- 4 IHC Antibodies (anti-human)
- 25 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 IHC Antibodies (anti-mouse)
- 23 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 2 IHC Antibodies (anti-rat)
-
Boster Bio Antibodies for SORT1
-
Santa Cruz Biotechnology (SCBT) Antibodies for SORT1
- Sino Biological Antibodies for SORT1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SORT1
- Origene Custom Protein Services for SORT1
- Novus Biologicals proteins for SORT1
-
Signalway Proteins for SORT1
-
Abcam proteins for SORT1
No data available for DME Specific Peptides for SORT1 Gene
Domains & Families for SORT1 Gene
Gene Families for SORT1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
Protein Domains for SORT1 Gene
- InterPro:
- Blocks:
-
- VPS10
- ProtoNet:
Suggested Antigen Peptide Sequences for SORT1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ50262, highly similar to Sortilin (B4DWI3_HUMAN)
- Neurotensin receptor 3 (SORT_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q99523UniProtKB/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.
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.
Phenotypes From GWAS Catalog 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 |
Phenotypes for SORT1 Gene
- MGI mutant phenotypes for SORT1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for SORT1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased viability ratio
- Increased gamma-H2AX phosphorylation
- Inconclusive
- Decreased G3BP1 protein expression and assembly in stress granules and decreased DCP1a protein expression and assembly in processing bodies after arsenite stimulation
- Increased viability after borna disease (rVSVΔG*/BDVG) virus infection
- Decreased free cholesterol
- Decreased LDL uptake
Animal Models for SORT1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for SORT1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SORT1 - Select products 50% OFF >
- * SORT1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SORT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SORT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SORT1
miRNA for SORT1 Gene
- miRTarBase miRNAs that target SORT1
-
- hsa-miR-34a-5p (MIRT025550)
- hsa-miR-125b-5p (MIRT045915)
- hsa-miR-222-3p (MIRT046808)
- hsa-miR-1185-5p (MIRT439558)
- hsa-miR-376a-3p (MIRT439560)
- hsa-miR-218-5p (MIRT439561)
- mmu-miR-362-3p (MIRT588833)
- mmu-miR-329-3p (MIRT588834)
- mmu-miR-297b-3p (MIRT588835)
- mmu-miR-669m-3p (MIRT588836)
- mmu-miR-466a-3p (MIRT588837)
- mmu-miR-466e-3p (MIRT588838)
- mmu-miR-467g (MIRT588839)
- mmu-miR-466d-3p (MIRT588840)
- mmu-miR-466n-3p (MIRT588841)
- mmu-miR-466i-3p (MIRT588842)
- mmu-miR-344e-3p (MIRT588843)
- mmu-miR-410-3p (MIRT588844)
- mmu-miR-344d-3p (MIRT588845)
- mmu-miR-340-5p (MIRT588846)
- mmu-miR-142a-5p (MIRT588847)
- hsa-miR-181c-5p (MIRT726471)
- hsa-miR-181d-5p (MIRT726472)
- hsa-miR-181b-5p (MIRT726473)
- hsa-miR-181a-5p (MIRT726474)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SORT1
- Browse OriGene Inhibitory RNA Products For SORT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SORT1
Clone Products
- Applied Biological Materials (abm): Clones for SORT1 - Select products 50% OFF >
- * SORT1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SORT1
- Addgene plasmids for SORT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SORT1
Cell Line Products
-
Horizon Cell Lines for SORT1
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| endosome | 5 |
| cytosol | 5 |
| lysosome | 5 |
| golgi apparatus | 5 |
| nucleus | 4 |
| endoplasmic reticulum | 4 |
| extracellular | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 1 |
- Plasma membrane (3)
- Cytosol (2)
- Golgi apparatus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005764 | lysosome | IEA,IDA | 28541286 |
| GO:0005765 | lysosomal membrane | IEA | -- |
| GO:0005768 | endosome | IEA | -- |
| GO:0005769 | early endosome | IDA | 11331584 |
Pathways & Interactions for SORT1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Clathrin derived vesicle budding | ||
| 2 | Development HGF signaling pathway |
Development Neurotrophin family signaling
.44
|
|
| 3 | Vesicle-mediated transport | ||
| 4 | Statin Pathway | ||
| 5 | Lysosome |
-
|
|
Pathways by source for SORT1 Gene
2 BioSystems pathways for SORT1 Gene
5 Reactome pathways for SORT1 Gene
3 KEGG pathways for SORT1 Gene
1 GeneGo (Thomson Reuters) pathway for SORT1 Gene
- Development Neurotrophin family signaling
Interacting Proteins for SORT1 Gene
Selected Interacting proteins:
Q99523-SORT_HUMAN
ENSP00000256637
for SORT1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SORT1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001503 | ossification | IEA | -- |
| GO:0006622 | protein targeting to lysosome | IEA | -- |
| GO:0006892 | post-Golgi vesicle-mediated transport | IBA | 21873635 |
| GO:0006895 | Golgi to endosome transport | IDA | 11331584 |
| GO:0006897 | endocytosis | IBA,IDA | 11331584 |
No data available for SIGNOR curated interactions for SORT1 Gene
Drugs & Compounds for SORT1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Mannose 6-phosphate | Investigational | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for SORT1 Gene
mRNA/cDNA for SORT1 Gene
- 2 REFSEQ mRNAs :
- 23 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000256637 6990 nts (view in UCSC)
- ENST00000466471 521 nts (view in UCSC)
- ENST00000471996 469 nts (view in UCSC)
- ENST00000482236 615 nts (view in UCSC)
- ENST00000483508 759 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SORT1 - Select products 50% OFF >
- * SORT1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SORT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SORT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SORT1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SORT1
- Browse OriGene Inhibitory RNA Products For SORT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SORT1
Clone Products
- Applied Biological Materials (abm): Clones for SORT1 - Select products 50% OFF >
- * SORT1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SORT1
- Addgene plasmids for SORT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SORT1
Relevant External Links for SORT1 Gene
- GeneLoc Exon Structure for
- SORT1
Expression for SORT1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Eye (Sensory Organs)
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
- Intestine (Gastrointestinal Tract)
- Bone (Muscoskeletal System)
- Mesenchymal Stem Cells
- Ovary (Reproductive System)
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, MaxQB, and MOPED for SORT1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SORT1
SOURCE GeneReport for Unigene cluster for SORT1 Gene:
Hs.485195mRNA 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(4.6)
- Blood(4.5)
- Lung(3.7)
- Skin(3.6)
- Heart(3.1)
- Kidney(2.9)
- Liver(2.9)
- Eye(2.8)
- Thyroid gland(2.4)
- Intestine(2.4)
- Spleen(2.3)
- Adrenal gland(2.3)
- Pancreas(2.1)
- Bone marrow(2)
Primer Products
-
OriGene qPCR primer pairs for SORT1
-
OriGene qPCR primer pairs and template standards for SORT1
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SORT1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SORT1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SORT1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Sort1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Sort1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | SORT1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SORT1 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SORT1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sort1 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.17947 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | sort1a 30 31 |
|
OneToMany | |
| sort1b 31 |
|
OneToMany | |||
| SORT1 (2 of 3) 31 |
|
OneToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| PEP1 31 |
|
ManyToMany | |||
| VTH1 31 |
|
ManyToMany | |||
| VTH2 31 33 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4778 31 |
|
OneToOne |
- Species where no ortholog for SORT1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for SORT1: view image
Paralogs for SORT1 Gene
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SORT1 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 737274 | Likely Benign: not provided | 109,369,563(-) | T/C | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 784954 | Benign: not provided | 109,355,359(-) | A/T | INTRON_VARIANT | |
| 786468 | Benign: not provided | 109,316,863(-) | C/T | MISSENSE_VARIANT | |
| 789875 | Benign: not provided | 109,342,050(-) | C/A | MISSENSE_VARIANT | |
| rs12740374 | Association: Low density lipoprotein cholesterol level quantitative trait locus 6 | 109,274,968(-) | G/T | THREE_PRIME_UTR_VARIANT |
| 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 |
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)
Additional Variant Information for SORT1 Gene
SNP Genotyping and Copy Number Assay Products
Disorders for SORT1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| low density lipoprotein cholesterol level quantitative trait locus 6 |
|
|
| myocardial infarction |
|
|
| fabry disease |
|
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| frontotemporal dementia |
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| mucolipidosis ii alpha/beta |
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Search SORT1 in MalaCards
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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.
Additional Disease Information for SORT1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for SORT1 Gene
Publications for SORT1 Gene
- Internalization and trafficking of neurotensin via NTS3 receptors in HT29 cells. (PMID: 15313463) Morinville A … Mazella J (The international journal of biochemistry & cell biology 2004) 3 4 23
- Involvement of the neurotensin receptor-3 in the neurotensin-induced migration of human microglia. (PMID: 12598608) Martin S … Mazella J (The Journal of neuroscience : the official journal of the Society for Neuroscience 2003) 3 4 23
- Shedding of the luminal domain of the neurotensin receptor-3/sortilin in the HT29 cell line. (PMID: 12419319) Navarro V … Mazella J (Biochemical and biophysical research communications 2002) 3 4 23
- Propeptide cleavage conditions sortilin/neurotensin receptor-3 for ligand binding. (PMID: 9927419) Munck Petersen C … Madsen P (The EMBO journal 1999) 3 4 23
- The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting. (PMID: 22431521) Mamo A … Lefrancois S (Molecular and cellular biology 2012) 3 4
ExternalLinks
Products for SORT1 Gene
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- antibodies-online: Show 56 available Sortilin 1 Antibodies ranked by validation data
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- 41 WB Antibodies (anti-human)
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- antibodies-online: Show 21 available Sortilin 1 Elisa Kits ranked by validation data
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- antibodies-online: Show 8 available Sortilin 1 Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for SORT1
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- Boster Bio Antibodies for SORT1
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Sources for SORT1 Gene
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