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Aliases for SORL1 Gene

Aliases for SORL1 Gene

  • Sortilin-Related Receptor, L(DLR Class) A Repeats Containing 2 3
  • LDLR Relative With 11 Ligand-Binding Repeats 2 3 4
  • SORLA 3 4 6
  • LR11 3 4 6
  • Low-Density Lipoprotein Receptor Relative With 11 Ligand-Binding Repeats 3 4
  • Sorting Protein-Related Receptor Containing LDLR Class A Repeats 3 4
  • Sortilin-Related Receptor, L(DLR Class) A Repeats-Containing 2 3
  • C11orf32 3 4
  • SorLA-1 3 4
  • 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 Symbols for SORL1 Gene

  • C11orf32

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 protein is translated as a preproprotein and likely plays roles in endocytosis and sorting. There may be an association between expression of this locus and Alzheimer's Disease.[provided by RefSeq, Sep 2010]

GeneCards Summary for SORL1 Gene

SORL1 (Sortilin-Related Receptor, L(DLR Class) A Repeats Containing) is a Protein Coding gene. Diseases associated with SORL1 include alzheimer disease and early-onset autosomal dominant alzheimer disease. GO annotations related to this gene include transmembrane signaling receptor activity and low-density lipoprotein particle binding. An important paralog of this gene is SORCS2.

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.

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

Genomics for SORL1 Gene

Genomic Location for SORL1 Gene

Start:
121,452,203 bp from pter
End:
121,633,762 bp from pter
Size:
181,560 bases
Orientation:
Plus strand

Genomic View for SORL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SORL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SORL1 Gene

Regulatory Elements 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

Proteomics data for SORL1 Gene at MOPED

Post-translational modifications for SORL1 Gene

  • The propeptide removed in the N-terminus may be cleaved by furin or homologous proteases
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys730
  • Glycosylation at Asn99, Asn158, Asn368, Asn430, Asn616, Asn674, Asn818, Asn871, Asn1035, Asn1068, Asn1164, Asn1191, Asn1246, Asn1367, Asn1458, Thr1508, Asn1608, Asn1706, Asn1733, Asn1809, Asn1854, Asn1894, Asn1986, Asn2010, Asn2054, Asn2069, Asn2076, and Asn2092

Other Protein References for SORL1 Gene

No data available for DME Specific Peptides for SORL1 Gene

Domains for SORL1 Gene

Gene Families for SORL1 Gene

HGNC:
  • FN3 :Fibronectin type III domain containing

UniProtKB/Swiss-Prot:

SORL_HUMAN
Domain:
  • Contains 1 EGF-like domain.:
    • Q92673
  • Contains 6 fibronectin type-III domains.:
    • Q92673
  • Contains 11 LDL-receptor class A domains.:
    • Q92673
Family:
  • Belongs to the VPS10-related sortilin family. SORL1 subfamily.:
    • Q92673
Similarity:
  • Contains 5 BNR repeats.:
    • Q92673
  • Contains 5 LDL-receptor class B repeats.:
    • Q92673
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.

Gene Ontology (GO) - Molecular Function for SORL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 beta-amyloid binding IPI 16407538
GO:0004888 transmembrane signaling receptor activity TAS 9157966
GO:0005515 protein binding IPI 14764453
GO:0030169 low-density lipoprotein particle binding IPI 17326667
GO:0030306 ADP-ribosylation factor binding IPI 17855360
genes like me logo Genes that share ontologies with SORL1: view
genes like me logo Genes that share phenotypes with SORL1: view

Animal Models for SORL1 Gene

MGI Knock Outs for SORL1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for SORL1 Gene COMPARTMENTS Subcellular localization image for SORL1 gene
Compartment Confidence
plasma membrane 4
extracellular 3
endosome 2
cytosol 1
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SORL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 14764453
GO:0005641 nuclear envelope lumen IDA 17855360
GO:0005768 endosome IDA 16174740
GO:0005769 early endosome IMP 22621900
GO:0005771 multivesicular body IEA --
genes like me logo Genes that share ontologies with SORL1: view

Pathways for SORL1 Gene

SuperPathways for SORL1 Gene

No Data Available

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 IMP 16174740
GO:0006622 protein targeting to lysosome IDA 24523320
GO:0006869 lipid transport IEA --
GO:0006892 post-Golgi vesicle-mediated transport IDA 17855360
genes like me logo Genes that share ontologies with SORL1: view

No data available for Pathways by source for SORL1 Gene

Transcripts for SORL1 Gene

Unigene Clusters for SORL1 Gene

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

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 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 (13.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SORL1 Gene

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.
genes like me logo Genes that share expressions 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 36
  • 98.52 (n)
  • 98.55 (a)
SORL1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SORL1 36
  • 88.09 (n)
  • 92.27 (a)
SORL1 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SORL1 36
  • 89.41 (n)
  • 93.15 (a)
SORL1 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sorl1 36
  • 87.59 (n)
  • 93.32 (a)
Sorl1 16
Sorl1 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SORL1 37
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SORL1 37
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sorl1 36
  • 87.23 (n)
  • 93.18 (a)
chicken
(Gallus gallus)
Aves SORL1 36
  • 75.79 (n)
  • 79.84 (a)
SORL1 37
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SORL1 37
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sorl1 36
  • 68.27 (n)
  • 71.87 (a)
zebrafish
(Danio rerio)
Actinopterygii sorl1 36
  • 64.76 (n)
  • 64.88 (a)
sorl1 37
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010896 36
  • 49.39 (n)
  • 38.11 (a)
worm
(Caenorhabditis elegans)
Secernentea B0244.8 38
  • 28 (a)
R01H2.3 38
  • 29 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 37
  • 24 (a)
ManyToMany
-- 37
  • 21 (a)
ManyToMany
-- 37
  • 16 (a)
ManyToMany
-- 37
  • 16 (a)
ManyToMany
-- 37
  • 15 (a)
ManyToMany
-- 39
PEP1 37
  • 16 (a)
ManyToMany
VTH1 37
  • 16 (a)
ManyToMany
VTH2 37
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 38 (a)
OneToOne
Species with no ortholog for SORL1:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs471957 -- 121,563,456(-) ATCAC(A/G)TCACT intron-variant
rs476786 -- 121,481,340(+) CTATA(A/G)GCAAG intron-variant
rs481388 -- 121,481,835(+) ATCTC(C/T)TCCTC intron-variant
rs481411 -- 121,481,838(+) TCCTC(C/T)TCCCC intron-variant
rs481489 -- 121,481,859(+) CTAGT(A/G)CACAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv898427 CNV Gain 21882294
nsv7225 OTHER Inversion 18451855
esv24898 CNV Loss 19812545
esv2677977 CNV Deletion 23128226
esv1624966 CNV Insertion 17803354
nsv512242 CNV Loss 21212237
esv2674399 CNV Deletion 23128226
esv2745152 CNV Deletion 23290073
nsv522474 CNV Loss 19592680
esv2665043 CNV Deletion 23128226
nsv526 CNV Insertion 18451855
esv2566564 CNV Deletion 19546169
nsv527072 CNV Loss 19592680
esv34768 CNV Gain 17911159
esv27517 CNV Loss 19812545
nsv818867 CNV Gain 17921354
dgv441e1 CNV Complex 17122850
nsv8875 CNV Gain 18304495

Relevant External Links for SORL1 Gene

HapMap Linkage Disequilibrium report
SORL1
Human Gene Mutation Database (HGMD)
SORL1

Disorders for SORL1 Gene

(1) OMIM Diseases for SORL1 Gene (602005)

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 constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, 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.

(1) University of Copenhagen DISEASES for SORL1 Gene

(5) Novoseek inferred disease relationships for SORL1 Gene

Disease -log(P) Hits PubMed IDs
alzheimers disease 66.9 24
senile plaques 48.2 2
neurodegenerative diseases 45.2 1
atherosclerosis 23.5 4
atherosclerotic plaque 20.6 1

Relevant External Links for SORL1

Genetic Association Database (GAD)
SORL1
Human Genome Epidemiology (HuGE) Navigator
SORL1
genes like me logo Genes that share disorders with SORL1: view

Publications for SORL1 Gene

  1. Molecular characterization of a novel human hybrid-type receptor that binds the alpha2-macroglobulin receptor-associated protein. (PMID: 8940146) Jacobsen L. … Petersen C.M. (J. Biol. Chem. 1996) 2 3 4 23
  2. A novel mosaic protein containing LDL receptor elements is highly conserved in humans and chickens. (PMID: 9157966) Morwald S. … Saito Y. (Arterioscler. Thromb. Vasc. Biol. 1997) 2 3 4 23
  3. Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein. (PMID: 16174740) Andersen O.M. … Willnow T.E. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 23
  4. The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. (PMID: 17220890) Rogaeva E. … St George-Hyslop P. (Nat. Genet. 2007) 3 23 49
  5. Association between genetic variants in sortilin-related receptor 1 (SORL1) and Alzheimer's disease in adults with Down syndrome. (PMID: 17826910) Lee J.H. … Schupf N. (Neurosci. Lett. 2007) 3 23 49

Products for SORL1 Gene

Sources for SORL1 Gene

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