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Aliases for SORCS1 Gene

Aliases for SORCS1 Gene

  • Sortilin Related VPS10 Domain Containing Receptor 1 2 3 5
  • HSorCS 3 4
  • Sortilin-Related VPS10 Domain Containing Receptor 1 2
  • VPS10 Domain-Containing Receptor SorCS1 3
  • VPS10 Domain Receptor Protein SORCS 1 3
  • SORCS 4

External Ids for SORCS1 Gene

Previous GeneCards Identifiers for SORCS1 Gene

  • GC10M107226
  • GC10M107567
  • GC10M108464
  • GC10M107998
  • GC10M108323
  • GC10M101965

Summaries for SORCS1 Gene

Entrez Gene Summary for SORCS1 Gene

  • This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for SORCS1 Gene

SORCS1 (Sortilin Related VPS10 Domain Containing Receptor 1) is a Protein Coding gene. Diseases associated with SORCS1 include Narcolepsy. Among its related pathways are Ectoderm Differentiation. Gene Ontology (GO) annotations related to this gene include neuropeptide receptor activity. An important paralog of this gene is SORCS3.

Additional gene information for SORCS1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SORCS1 Gene

Genomics for SORCS1 Gene

GeneHancer (GH) Regulatory Elements for SORCS1 Gene

Promoters and enhancers for SORCS1 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
GH10I107164 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 550.4 +16.3 16330 0.4 ZNF335 MXI1 ZBTB26 ZXDB EZH2 SORCS1 GC10M106873
GH10I107054 Enhancer 0.7 ENCODE 7.4 +125.0 125036 2.4 TEAD4 TAL1 MAX RAD21 YY1 TCF12 NCOR1 HNF4G CBFA2T2 CREM SORCS1 GC10M106873 RNA5SP325
GH10I107031 Enhancer 0.8 ENCODE 5.1 +148.6 148638 1.7 HDAC1 PKNOX1 TAF9B NFRKB CHAMP1 POLR2B RCOR1 ATF7 NCOA1 ZNF148 SORCS1 GC10M106873 RNA5SP325
GH10I107215 Enhancer 0.2 ENCODE 11.3 -34.7 -34712 0.2 SORCS1 GC10M107296
GH10I107216 Enhancer 0.2 ENCODE 11.3 -34.4 -34432 0.2 SORCS1 GC10M107296
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SORCS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SORCS1 gene promoter:

Genomic Locations for SORCS1 Gene

Genomic Locations for SORCS1 Gene
chr10:106,573,663-107,181,126
(GRCh38/hg38)
Size:
607,464 bases
Orientation:
Minus strand
chr10:108,333,421-108,924,466
(GRCh37/hg19)

Genomic View for SORCS1 Gene

Genes around SORCS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SORCS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SORCS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SORCS1 Gene

Proteins for SORCS1 Gene

  • Protein details for SORCS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WY21-SORC1_HUMAN
    Recommended name:
    VPS10 domain-containing receptor SorCS1
    Protein Accession:
    Q8WY21
    Secondary Accessions:
    • A2RRF4
    • Q59GG7
    • Q5JVT7
    • Q5JVT8
    • Q5VY14
    • Q86WQ1
    • Q86WQ2
    • Q9H1Y1
    • Q9H1Y2

    Protein attributes for SORCS1 Gene

    Size:
    1168 amino acids
    Molecular mass:
    129635 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAD92379.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAI40754.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI40755.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for SORCS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SORCS1 Gene

Post-translational modifications for SORCS1 Gene

  • O-glycosylated.
  • Glycosylation at isoforms=2, 3, 468, isoforms=2, 3, 4184, isoforms=2, 3, 4352, posLast=433433, isoforms=2, 3, 4765, posLast=776776, isoforms=2, 3, 4816, isoforms=2, 3, 4847, posLast=908908, and isoforms=2, 3, 4929
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SORCS1 Gene

Domains & Families for SORCS1 Gene

Gene Families for SORCS1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for SORCS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WY21

UniProtKB/Swiss-Prot:

SORC1_HUMAN :
  • Belongs to the VPS10-related sortilin family. SORCS subfamily.
Family:
  • Belongs to the VPS10-related sortilin family. SORCS subfamily.
genes like me logo Genes that share domains with SORCS1: view

Function for SORCS1 Gene

Phenotypes From GWAS Catalog for SORCS1 Gene

Gene Ontology (GO) - Molecular Function for SORCS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12482870
GO:0008188 neuropeptide receptor activity NAS 11499680
genes like me logo Genes that share ontologies with SORCS1: view
genes like me logo Genes that share phenotypes with SORCS1: view

miRNA for SORCS1 Gene

miRTarBase miRNAs that target SORCS1

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SORCS1 Gene

Localization for SORCS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SORCS1 Gene

Membrane; Single-pass type I membrane protein.

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 SORCS1 gene
Compartment Confidence
plasma membrane 4
cytosol 2
golgi apparatus 2
endosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SORCS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA,IEA 12482870
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SORCS1: view

Pathways & Interactions for SORCS1 Gene

SuperPathways for SORCS1 Gene

SuperPathway Contained pathways
1 Ectoderm Differentiation
genes like me logo Genes that share pathways with SORCS1: view

Pathways by source for SORCS1 Gene

1 BioSystems pathway for SORCS1 Gene

Interacting Proteins for SORCS1 Gene

Gene Ontology (GO) - Biological Process for SORCS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007218 neuropeptide signaling pathway NAS 11499680
genes like me logo Genes that share ontologies with SORCS1: view

No data available for SIGNOR curated interactions for SORCS1 Gene

Drugs & Compounds for SORCS1 Gene

No Compound Related Data Available

Transcripts for SORCS1 Gene

Unigene Clusters for SORCS1 Gene

Sortilin-related VPS10 domain containing receptor 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SORCS1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1:
SP2:
SP3:
SP4:

ExUns: 25 ^ 26 ^ 27 ^ 28
SP1: - -
SP2: -
SP3:
SP4:

Relevant External Links for SORCS1 Gene

GeneLoc Exon Structure for
SORCS1
ECgene alternative splicing isoforms for
SORCS1

Expression for SORCS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SORCS1 Gene

mRNA differential expression in normal tissues according to GTEx for SORCS1 Gene

This gene is overexpressed in Nerve - Tibial (x9.0) and Brain - Nucleus accumbens (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for SORCS1 Gene

This gene is overexpressed in Colon (15.7), Fetal gut (14.4), and Rectum (12.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SORCS1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SORCS1 Gene:

SORCS1

SOURCE GeneReport for Unigene cluster for SORCS1 Gene:

Hs.591915

mRNA Expression by UniProt/SwissProt for SORCS1 Gene:

Q8WY21-SORC1_HUMAN
Tissue specificity: Detected in fetal and infant brain and in fetal retina.

Evidence on tissue expression from TISSUES for SORCS1 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with SORCS1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SORCS1 Gene

Orthologs for SORCS1 Gene

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

Orthologs for SORCS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SORCS1 33 34
  • 99.38 (n)
oppossum
(Monodelphis domestica)
Mammalia SORCS1 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SORCS1 33 34
  • 93.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SORCS1 34
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SORCS1 33 34
  • 91.18 (n)
mouse
(Mus musculus)
Mammalia Sorcs1 33 16 34
  • 87.86 (n)
rat
(Rattus norvegicus)
Mammalia Sorcs1 33
  • 87.57 (n)
chicken
(Gallus gallus)
Aves SORCS1 33 34
  • 79.49 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 92 (a)
OneToMany
-- 34
  • 77 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii SORCS1 34
  • 71 (a)
OneToOne
sorcs1 33
  • 69.22 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 23 (a)
ManyToMany
-- 34
  • 18 (a)
ManyToMany
-- 34
  • 17 (a)
ManyToMany
-- 34
  • 14 (a)
ManyToMany
PEP1 34
  • 12 (a)
ManyToMany
-- 34
  • 11 (a)
ManyToMany
VTH1 34
  • 11 (a)
ManyToMany
VTH2 34
  • 11 (a)
ManyToMany
-- 36
-- 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
OneToMany
Species where no ortholog for SORCS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SORCS1 Gene

ENSEMBL:
Gene Tree for SORCS1 (if available)
TreeFam:
Gene Tree for SORCS1 (if available)

Paralogs for SORCS1 Gene

Paralogs for SORCS1 Gene

(2) SIMAP similar genes for SORCS1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SORCS1: view

Variants for SORCS1 Gene

Sequence variations from dbSNP and Humsavar for SORCS1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs193920991 uncertain-significance, Malignant tumor of prostate 106,579,243(-) G/A/T 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant
VAR_036374 A breast cancer sample p.Lys223Asn
rs1000003405 -- 106,680,915(-) T/A intron_variant
rs1000010749 -- 106,703,644(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000014009 -- 106,997,290(-) G/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SORCS1 Gene

Variant ID Type Subtype PubMed ID
dgv1391n54 CNV gain 21841781
dgv38n111 CNV deletion 26073780
esv2431185 CNV deletion 19546169
esv2740640 CNV deletion 23290073
esv2740651 CNV deletion 23290073
esv2762878 CNV loss 21179565
esv3304936 CNV mobile element insertion 20981092
esv3308060 CNV mobile element insertion 20981092
esv3349434 CNV insertion 20981092
esv3366792 CNV insertion 20981092
esv3424566 CNV insertion 20981092
esv3579110 CNV loss 25503493
esv3624476 CNV loss 21293372
esv3624477 CNV loss 21293372
esv3624481 CNV loss 21293372
esv5580 CNV gain 19470904
nsv1047446 CNV gain 25217958
nsv1049424 CNV gain 25217958
nsv1139534 CNV duplication 24896259
nsv25362 CNV deletion 16902084
nsv472782 CNV novel sequence insertion 20440878
nsv519092 CNV loss 19592680
nsv525854 CNV loss 19592680
nsv552159 CNV loss 21841781
nsv7211 OTHER inversion 18451855
nsv7539 CNV insertion 18451855
nsv7540 CNV insertion 18451855
nsv7541 CNV insertion 18451855
nsv831977 CNV gain 17160897
nsv831978 CNV loss 17160897

Variation tolerance for SORCS1 Gene

Residual Variation Intolerance Score: 19.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.97; 59.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SORCS1 Gene

Human Gene Mutation Database (HGMD)
SORCS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SORCS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SORCS1 Gene

Disorders for SORCS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SORCS1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
narcolepsy
  • narcolepsy, without cataplexy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SORCS1

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 SORCS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SORCS1 Gene

Publications for SORCS1 Gene

  1. Characterization of sorCS1, an alternatively spliced receptor with completely different cytoplasmic domains that mediate different trafficking in cells. (PMID: 12482870) Hermey G … Gliemann J (The Journal of biological chemistry 2003) 3 4 22 58
  2. The genes for the human VPS10 domain-containing receptors are large and contain many small exons. (PMID: 11499680) Hampe W … Schaller HC (Human genetics 2001) 2 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 44 58

Products for SORCS1 Gene

Sources for SORCS1 Gene

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