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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 Alzheimer Disease and Early-Onset, Autosomal Dominant Alzheimer Disease. Among its related pathways are Neuroscience and Metabolism of proteins. GO annotations related to this gene include transmembrane signaling receptor activity and low-density lipoprotein particle binding. An important paralog of this gene is LRP1.

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

Regulatory Elements for SORL1 Gene

Enhancers for SORL1 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
GH11F121415 1.6 FANTOM5 Ensembl ENCODE 34.9 -32.7 -32703 7.8 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 KLF13 ZNF263 SP3 SORL1 LOC105369536 ENSG00000271022 GC11P121409
GH11F121446 1.3 FANTOM5 ENCODE 27.6 +0.3 292 11.3 HDGF PKNOX1 MLX WRNIP1 SIN3A ARID4B FEZF1 ZNF2 ZNF48 YY1 SORL1 TBCEL SC5D LOC105369536
GH11F121493 1.3 FANTOM5 Ensembl ENCODE 18 +42.5 42450 1.7 TBL1XR1 MTA2 MAX TBX21 EGR1 IKZF1 ETV6 MYC CREM SORL1 LOC105369536 SC5D TECTA GC11M121490 GC11M121501
GH11F121480 1.3 FANTOM5 Ensembl ENCODE 13.7 +31.1 31088 5.8 HDGF SOX13 PKNOX1 SP3 MAX EBF1 MNT RELA POLR2A IKZF1 SORL1 LOC105369536 LOC105369535 PIR43409
GH11F121429 0.2 Ensembl 12.6 -22.5 -22502 1.4 ASH2L BMI1 RELA EED ETV6 CREM CHD2 MTA2 ZBED1 TRIM22 SORL1 LOC105369536 ENSG00000271022
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SORL1 on UCSC Golden Path with GeneCards custom track

Promoters for SORL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000112489 397 2401 MLX SIN3A ARID4B ZNF48 YY1 SLC30A9 ZNF143 PPARG TBX21 SSRP1

Genomic Location for SORL1 Gene

Chromosome:
11
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

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 Lys 730
  • Glycosylation at Asn 99, Asn 158, Asn 368, Asn 430, Asn 616, Asn 674, Asn 818, Asn 871, Asn 1035, Asn 1068, Asn 1164, Asn 1191, Asn 1246, Asn 1367, Asn 1458, Thr 1508, Asn 1608, Asn 1706, Asn 1733, Asn 1809, Asn 1854, Asn 1894, Asn 1986, Asn 2010, Asn 2054, Asn 2069, Asn 2076, and Asn 2092
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SORL1 (SORL1)
  • Abcam antibodies for SORL1

No data available for DME Specific Peptides for SORL1 Gene

Domains & Families for SORL1 Gene

Gene Families for SORL1 Gene

Suggested Antigen Peptide Sequences for SORL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q92673

UniProtKB/Swiss-Prot:

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

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

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for SORL1 Gene COMPARTMENTS Subcellular localization image for SORL1 gene
Compartment Confidence
endoplasmic reticulum 5
endosome 5
extracellular 5
golgi apparatus 5
nucleus 5
plasma membrane 5
cytosol 2
lysosome 2
vacuole 2

Gene Ontology (GO) - Cellular Components for SORL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 14764453
GO:0005641 nuclear envelope lumen IDA 17855360
GO:0005768 endosome IEA,IDA 16174740
GO:0005769 early endosome IMP 22621900
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

1 Cell Signaling Technology pathway for SORL1 Gene
2 Reactome pathways 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 IMP,IDA 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

Transcripts for SORL1 Gene

Unigene Clusters for SORL1 Gene

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

Inhibitory RNA Products

Flow Cytometry 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 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.
genes like me logo Genes that share expression patterns with SORL1: view

Primer Products

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 35
  • 98.52 (n)
dog
(Canis familiaris)
Mammalia SORL1 34 35
  • 89.41 (n)
cow
(Bos Taurus)
Mammalia SORL1 34 35
  • 88.09 (n)
mouse
(Mus musculus)
Mammalia Sorl1 34 16 35
  • 87.59 (n)
rat
(Rattus norvegicus)
Mammalia Sorl1 34
  • 87.23 (n)
oppossum
(Monodelphis domestica)
Mammalia SORL1 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SORL1 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves SORL1 34 35
  • 75.79 (n)
lizard
(Anolis carolinensis)
Reptilia SORL1 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sorl1 34
  • 68.27 (n)
zebrafish
(Danio rerio)
Actinopterygii sorl1 34 35
  • 64.76 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010896 34
  • 49.39 (n)
worm
(Caenorhabditis elegans)
Secernentea R01H2.3 36
  • 29 (a)
B0244.8 36
  • 28 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
  • 24 (a)
ManyToMany
-- 35
  • 21 (a)
ManyToMany
-- 35
  • 16 (a)
ManyToMany
-- 35
  • 16 (a)
ManyToMany
PEP1 35
  • 16 (a)
ManyToMany
VTH1 35
  • 16 (a)
ManyToMany
VTH2 35
  • 16 (a)
ManyToMany
-- 35
  • 15 (a)
ManyToMany
-- 37
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs766895956 A colorectal cancer sample 121,621,088(+) AAGAT(C/G)TCATA reference, missense
VAR_036371 A breast cancer sample
VAR_036372 A breast cancer sample
rs1010157 -- 121,609,900(+) GGAAA(C/T)GGGTT intron-variant, utr-variant-3-prime
rs1010158 -- 121,612,942(-) GCTTC(C/T)AGAGA intron-variant

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)

Relevant External Links for SORL1 Gene

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

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

Disorders for SORL1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SORL1 Gene - From: OMIM, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • alzheimer disease, late-onset
early-onset, autosomal dominant alzheimer disease
  • early-onset autosomal dominant alzheimer disease
cold-induced sweating syndrome 1
  • cold-induced sweating syndrome
- 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 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.

Relevant External Links for SORL1

Genetic Association Database (GAD)
SORL1
Human Genome Epidemiology (HuGE) Navigator
SORL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SORL1
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) Morwald S. … Saito Y. (Arterioscler. Thromb. Vasc. Biol. 1997) 2 3 4 22 64
  2. 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 22 64
  3. Meta-analysis of the association between variants in SORL1 and Alzheimer disease. (PMID: 21220680) Reitz C. … Mayeux R. (Arch. Neurol. 2011) 3 4 46 64
  4. SORL1 haplotypes modulate risk of Alzheimer's disease in Chinese. (PMID: 18063222) Tan E.K. … Lee W.L. (Neurobiol. Aging 2009) 3 22 46 64
  5. SORL1 is genetically associated with Alzheimer disease in a Japanese population. (PMID: 19539718) Kimura R. … Takeda M. (Neurosci. Lett. 2009) 3 22 46 64

Products for SORL1 Gene

Sources for SORL1 Gene

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