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Aliases for SORL1 Gene

Aliases for SORL1 Gene

  • Sortilin Related Receptor 1 2 3 5
  • LDLR Relative With 11 Ligand-Binding Repeats 2 3 4
  • Low-Density Lipoprotein Receptor Relative With 11 Ligand-Binding Repeats 3 4
  • Sorting Protein-Related Receptor Containing LDLR Class A Repeats 3 4
  • C11orf32 3 4
  • SorLA-1 3 4
  • SORLA 3 4
  • LR11 3 4
  • Sortilin-Related Receptor, L(DLR Class) A Repeats-Containing 2
  • Sortilin-Related Receptor, L(DLR Class) A Repeats Containing 3
  • Chromosome 11 Open Reading Frame 32 2
  • Sortilin-Related Receptor 3
  • Mosaic Protein LR11 3
  • Gp250 3
  • LRP9 3

External Ids for SORL1 Gene

Previous HGNC Symbols for SORL1 Gene

  • C11orf32

Previous GeneCards Identifiers for SORL1 Gene

  • GC11P123323
  • GC11P122835
  • GC11P121356
  • GC11P120860
  • GC11P120828
  • GC11P117266

Summaries for SORL1 Gene

Entrez Gene Summary for SORL1 Gene

  • This gene encodes a mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, Feb 2016]

GeneCards Summary for SORL1 Gene

SORL1 (Sortilin Related Receptor 1) is a Protein Coding gene. Diseases associated with SORL1 include Early-Onset, Autosomal Dominant Alzheimer Disease and Alzheimer Disease. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity and low-density lipoprotein particle binding. An important paralog of this gene is SORCS1.

UniProtKB/Swiss-Prot for SORL1 Gene

  • Likely to be a multifunctional endocytic receptor, that may be implicated in the uptake of lipoproteins and of proteases. Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. Binds the receptor-associated protein (RAP). Could play a role in cell-cell interaction. Involved in APP trafficking to and from the Golgi apparatus. It probably acts as a sorting receptor that protects APP from trafficking to late endosome and from processing into amyloid beta, thereby reducing the burden of amyloidogenic peptide formation. Involved in the regulation of smooth muscle cells migration, probably through PLAUR binding and decreased internalization.

Additional gene information for SORL1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SORL1 Gene

Genomics for SORL1 Gene

GeneHancer (GH) Regulatory Elements for SORL1 Gene

Promoters and enhancers for SORL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I121446 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 577.6 +0.3 291 11.3 HDGF FOXA2 SMAD1 MLX ARNT ARID4B ZNF48 YY1 SLC30A9 ZNF143 SORL1 LOC105369536 TBCEL SC5D
GH11I121416 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 34.5 -34.0 -34038 2.7 SMAD1 IRF4 RAD21 YY1 ZNF143 BCLAF1 IKZF2 RUNX3 RXRA CBFB SORL1 LOC105369536 ENSG00000271022 GC11P121409
GH11I121493 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 18 +42.4 42449 1.7 ZBED1 MAX ELF1 ATF2 ZNF217 IKZF1 ATF7 ETV6 MYC RUNX3 SORL1 LOC105369536 SC5D TECTA GC11M121490 GC11M121501
GH11I121481 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 13.8 +31.5 31487 5 HDGF PKNOX1 MAX EBF1 RELA POLR2A NFATC1 ETV6 BCLAF1 IKZF2 LOC105369535 SORL1 LOC105369536 PIR43409
GH11I121588 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.9 +137.6 137554 3.5 HDGF PKNOX1 SMAD1 BMI1 BATF KLF5 IRF4 RAD21 YY1 ZNF143 SORL1 LOC105369536 GC11P121607 GC11P121528
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SORL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SORL1 gene promoter:

Genomic Locations for SORL1 Gene

Genomic Locations for SORL1 Gene
chr11:121,452,203-121,633,762
(GRCh38/hg38)
Size:
181,560 bases
Orientation:
Plus strand
chr11:121,322,912-121,504,471
(GRCh37/hg19)

Genomic View for SORL1 Gene

Genes around SORL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SORL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SORL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SORL1 Gene

Proteins for SORL1 Gene

  • Protein details for SORL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92673-SORL_HUMAN
    Recommended name:
    Sortilin-related receptor
    Protein Accession:
    Q92673
    Secondary Accessions:
    • B2RNX7
    • Q92856

    Protein attributes for SORL1 Gene

    Size:
    2214 amino acids
    Molecular mass:
    248426 Da
    Quaternary structure:
    • Interacts with GGA1 and ROCK2. Interacts with PLAUR. Interacts with APP.

    Three dimensional structures from OCA and Proteopedia for SORL1 Gene

neXtProt entry for SORL1 Gene

Post-translational modifications for SORL1 Gene

  • The propeptide removed in the N-terminus may be cleaved by furin or homologous proteases.
  • Ubiquitination at isoforms=730
  • Glycosylation at posLast=9999, posLast=158158, isoforms=368, isoforms=430, posLast=616616, posLast=674674, isoforms=818, isoforms=871, posLast=10351035, isoforms=1068, posLast=11641164, isoforms=1191, posLast=12461246, isoforms=1367, isoforms=1458, posLast=15081508, posLast=16081608, posLast=17061706, posLast=17331733, isoforms=1809, posLast=18541854, isoforms=1894, isoforms=1986, posLast=20102010, isoforms=2054, isoforms=2069, isoforms=2076, and posLast=20922092
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SORL1 Gene

Domains & Families for SORL1 Gene

Gene Families for SORL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for SORL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q92673

UniProtKB/Swiss-Prot:

SORL_HUMAN :
  • Belongs to the VPS10-related sortilin family. SORL1 subfamily.
Family:
  • Belongs to the VPS10-related sortilin family. SORL1 subfamily.
genes like me logo Genes that share domains with SORL1: view

Function for SORL1 Gene

Molecular function for SORL1 Gene

UniProtKB/Swiss-Prot Function:
Likely to be a multifunctional endocytic receptor, that may be implicated in the uptake of lipoproteins and of proteases. Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. Binds the receptor-associated protein (RAP). Could play a role in cell-cell interaction. Involved in APP trafficking to and from the Golgi apparatus. It probably acts as a sorting receptor that protects APP from trafficking to late endosome and from processing into amyloid beta, thereby reducing the burden of amyloidogenic peptide formation. Involved in the regulation of smooth muscle cells migration, probably through PLAUR binding and decreased internalization.

Phenotypes From GWAS Catalog for SORL1 Gene

Gene Ontology (GO) - Molecular Function for SORL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding IPI 16407538
GO:0004888 transmembrane signaling receptor activity TAS 9157966
GO:0005041 low-density lipoprotein receptor activity TAS 20005821
GO:0005515 protein binding IPI 14764453
GO:0030169 low-density lipoprotein particle binding IPI 17326667
genes like me logo Genes that share ontologies with SORL1: view
genes like me logo Genes that share phenotypes with SORL1: view

Human Phenotype Ontology for SORL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SORL1 Gene

MGI Knock Outs for SORL1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SORL1

miRNA for SORL1 Gene

miRTarBase miRNAs that target SORL1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SORL1 Gene

Localization for SORL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SORL1 Gene

Membrane; Single-pass type I membrane protein. Golgi apparatus. Endosome. Secreted.

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 SORL1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
endoplasmic reticulum 5
golgi apparatus 5
endosome 5
cytosol 2
lysosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SORL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 14764453
GO:0005641 nuclear envelope lumen IEA,IDA 17855360
GO:0005768 endosome IEA,IDA 16174740
genes like me logo Genes that share ontologies with SORL1: view

Pathways & Interactions for SORL1 Gene

genes like me logo Genes that share pathways with SORL1: view

Pathways by source for SORL1 Gene

2 Reactome pathways for SORL1 Gene
1 Cell Signaling Technology pathway for SORL1 Gene

SIGNOR curated interactions for SORL1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SORL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000042 protein targeting to Golgi IDA 17855360
GO:0006605 protein targeting IDA,IMP 16174740
GO:0006622 protein targeting to lysosome IDA 24523320
GO:0006629 lipid metabolic process IEA --
GO:0006810 transport IEA --
genes like me logo Genes that share ontologies with SORL1: view

Drugs & Compounds for SORL1 Gene

No Compound Related Data Available

Transcripts for SORL1 Gene

Unigene Clusters for SORL1 Gene

Sortilin-related receptor, L(DLR class) A repeats containing:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SORL1 Gene

No ASD Table

Relevant External Links for SORL1 Gene

GeneLoc Exon Structure for
SORL1
ECgene alternative splicing isoforms for
SORL1

Expression for SORL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SORL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SORL1 Gene

This gene is overexpressed in Whole Blood (x13.9).

Protein differential expression in normal tissues from HIPED for SORL1 Gene

This gene is overexpressed in Bone marrow stromal cell (13.2) and Peripheral blood mononuclear cells (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SORL1 Gene



Protein tissue co-expression partners for SORL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SORL1 Gene:

SORL1

SOURCE GeneReport for Unigene cluster for SORL1 Gene:

Hs.368592

mRNA Expression by UniProt/SwissProt for SORL1 Gene:

Q92673-SORL_HUMAN
Tissue specificity: Expressed mainly in brain, where it is most abundant in the cerebellum, cerebral cortex and the occipital pole; low expression in the putamen and the thalamus. Expression is significantly reduced in the frontal cortex of patients suffering from Alzheimer disease. According to PubMed:9157966, found in spinal cord, testis, liver, kidney and pancreas with detectable levels in placenta, lung and heart. According to PubMed:8940146, expressed in the prostate, ovary, thyroid and spleen, but not found in kidney, liver, lung, skeletal muscle, bone marrow and adrenals.

Evidence on tissue expression from TISSUES for SORL1 Gene

  • Nervous system(4.9)
  • Blood(4.5)
  • Liver(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SORL1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • stomach
Limb:
  • foot
  • lower limb
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with SORL1: view

Orthologs for SORL1 Gene

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

Orthologs for SORL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SORL1 34 33
  • 98.52 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SORL1 33 34
  • 89.41 (n)
cow
(Bos Taurus)
Mammalia SORL1 33 34
  • 88.09 (n)
mouse
(Mus musculus)
Mammalia Sorl1 33 16 34
  • 87.59 (n)
rat
(Rattus norvegicus)
Mammalia Sorl1 33
  • 87.23 (n)
oppossum
(Monodelphis domestica)
Mammalia SORL1 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SORL1 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves SORL1 33 34
  • 75.79 (n)
lizard
(Anolis carolinensis)
Reptilia SORL1 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sorl1 33
  • 68.27 (n)
zebrafish
(Danio rerio)
Actinopterygii sorl1 33 34
  • 64.76 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010896 33
  • 49.39 (n)
worm
(Caenorhabditis elegans)
Secernentea R01H2.3 35
  • 29 (a)
B0244.8 35
  • 28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 24 (a)
ManyToMany
-- 34
  • 21 (a)
ManyToMany
-- 34
  • 16 (a)
ManyToMany
-- 34
  • 16 (a)
ManyToMany
PEP1 34
  • 16 (a)
ManyToMany
VTH1 34
  • 16 (a)
ManyToMany
VTH2 34
  • 16 (a)
ManyToMany
-- 34
  • 15 (a)
ManyToMany
-- 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
OneToOne
Species where no ortholog for SORL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)

Evolution for SORL1 Gene

ENSEMBL:
Gene Tree for SORL1 (if available)
TreeFam:
Gene Tree for SORL1 (if available)

Paralogs for SORL1 Gene

Paralogs for SORL1 Gene

(4) SIMAP similar genes for SORL1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with SORL1: view

Variants for SORL1 Gene

Sequence variations from dbSNP and Humsavar for SORL1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs377498269 Alzheimer disease (AD) [MIM:104300] 121,558,698(+) A/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs747306346 Alzheimer disease (AD) [MIM:104300] 121,589,385(+) A/G coding_sequence_variant, missense_variant
rs766895956 A colorectal cancer sample 121,621,088(+) C/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
VAR_036371 A breast cancer sample p.Leu120Ser
VAR_036372 A breast cancer sample p.Met1581Leu

Structural Variations from Database of Genomic Variants (DGV) for SORL1 Gene

Variant ID Type Subtype PubMed ID
esv1624966 CNV insertion 17803354
esv24898 CNV loss 19812545
esv2566564 CNV deletion 19546169
esv2665043 CNV deletion 23128226
esv2674399 CNV deletion 23128226
esv2677977 CNV deletion 23128226
esv2745152 CNV deletion 23290073
esv27517 CNV loss 19812545
esv2759866 CNV gain 17122850
esv3334676 CNV duplication 20981092
esv3427283 CNV duplication 20981092
esv34768 CNV gain 17911159
esv3627922 CNV loss 21293372
nsv1141204 CNV duplication 24896259
nsv512242 CNV loss 21212237
nsv522474 CNV loss 19592680
nsv526 CNV insertion 18451855
nsv527072 CNV loss 19592680
nsv7225 OTHER inversion 18451855
nsv818867 CNV gain 17921354
nsv8875 CNV gain 18304495

Variation tolerance for SORL1 Gene

Residual Variation Intolerance Score: 25.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.37; 81.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SORL1 Gene

Human Gene Mutation Database (HGMD)
SORL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SORL1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SORL1 Gene

Disorders for SORL1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SORL1 Gene - From: HGMD, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SORL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SORL_HUMAN
  • Alzheimer disease (AD) [MIM:104300]: Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. {ECO:0000269 PubMed:21220680, ECO:0000269 PubMed:22472873, ECO:0000269 PubMed:23565137}. Note=The gene represented in this entry is involved in disease pathogenesis.

Additional Disease Information for SORL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SORL1: view

No data available for Genatlas for SORL1 Gene

Publications for SORL1 Gene

  1. A novel mosaic protein containing LDL receptor elements is highly conserved in humans and chickens. (PMID: 9157966) Mörwald S … Saito Y (Arteriosclerosis, thrombosis, and vascular biology 1997) 2 3 4 22 58
  2. Molecular characterization of a novel human hybrid-type receptor that binds the alpha2-macroglobulin receptor-associated protein. (PMID: 8940146) Jacobsen L … Petersen CM (The Journal of biological chemistry 1996) 2 3 4 22 58
  3. Meta-analysis of the association between variants in SORL1 and Alzheimer disease. (PMID: 21220680) Reitz C … Genetic and Environmental Risk in Alzheimer Disease 1 Consortium (Archives of neurology 2011) 3 4 44 58
  4. SORL1 haplotypes modulate risk of Alzheimer's disease in Chinese. (PMID: 18063222) Tan EK … Lee WL (Neurobiology of aging 2009) 3 22 44 58
  5. SORL1 is genetically associated with Alzheimer disease in a Japanese population. (PMID: 19539718) Kimura R … Takeda M (Neuroscience letters 2009) 3 22 44 58

Products for SORL1 Gene

Sources for SORL1 Gene

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