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SORCS1 Gene(Protein Coding)

Sortilin Related VPS10 Domain Containing Receptor 1

GCID:
GC10M106573
GIFtS:
57
Genes Participants
UDN Logo

Aliases for SORCS1 Gene

Aliases for SORCS1 Gene

  • Sortilin Related VPS10 Domain Containing Receptor 1 2 3
  • Sortilin-Related VPS10 Domain Containing Receptor 1 2 3 5
  • HSorCS 3 4
  • 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. GO annotations related to this gene include neuropeptide receptor activity. An important paralog of this gene is SORCS3.

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

Genomics for SORCS1 Gene

Products:

  1. Regulatory Element

Regulatory Elements for SORCS1 Gene

Enhancers for SORCS1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SORCS1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for SORCS1 Gene

Chromosome:
10
Start:
106,573,663 bp from pter
End:
107,181,126 bp from pter
Size:
607,464 bases
Orientation:
Minus strand

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 Structure • Gene Density

RefSeq DNA sequence for SORCS1 Gene

Proteins for SORCS1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Proteomics data for SORCS1 Gene at MOPED

Protein Expression for SORCS1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SORCS1 Gene

  • O-glycosylated.
  • Glycosylation at Thr 68, Asn 184, Asn 352, Asn 433, Asn 765, Asn 776, Asn 816, Asn 847, Asn 908, and Asn 929
  • Modification sites at PhosphoSitePlus

Other Protein References for SORCS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SORCS1 Gene

Domains & Families for SORCS1 Gene

Protein Domains for SORCS1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SORCS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WY21

UniProtKB/Swiss-Prot:

SORC1_HUMAN :
  • Contains 1 PKD domain.
  • Belongs to the VPS10-related sortilin family. SORCS subfamily.
  • Contains 5 BNR repeats.
Domain:
  • Contains 1 PKD domain.
Family:
  • Belongs to the VPS10-related sortilin family. SORCS subfamily.
Similarity:
  • Contains 5 BNR repeats.
genes like me logo Genes that share domains with SORCS1: view

No data available for Gene Families for SORCS1 Gene

Function for SORCS1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Phenotypes for SORCS1 Gene

MGI mutant phenotypes for SORCS1:
inferred from 1 alleles
GenomeRNAi human phenotypes for SORCS1:
genes like me logo Genes that share phenotypes with SORCS1: view

Animal Model Products

miRNA for SORCS1 Gene

miRTarBase miRNAs that target SORCS1

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for SORCS1 Gene COMPARTMENTS Subcellular localization image for SORCS1 gene
Compartment Confidence
plasma membrane 4
cytosol 2
golgi apparatus 2
endosome 1

Gene Ontology (GO) - Cellular Components for SORCS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

PathCards logoMore details on SuperPathways for SORCS1
No Data Available

Interacting Proteins for SORCS1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000345964%0d%0a9606.ENSP00000268171%0d%0a9606.ENSP00000256637%0d%0a
Selected Interacting proteins: ENSP00000345964 Q8WY21-SORC1_HUMAN for SORCS1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for SORCS1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SORCS1 Gene

Drugs & Compounds for SORCS1 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for SORCS1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for SORCS1 Gene

(15) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(55) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SORCS1 Gene

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

Flow Cytometry 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

Products:

  1. Primer

mRNA expression in normal human tissues for SORCS1 Gene

mRNA expression in normal human tissues for SORCS1 Gene
mRNA expression by BioGPS for SORCS1 GenemRNA expression by GTEx 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



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.
genes like me logo Genes that share expression patterns with SORCS1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners 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
cow
(Bos Taurus)
 Mammalia SORCS1 35
  • 91.18 (n)
  • 95.16 (a)
SORCS1 36
  • 94 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia SORCS1 35
  • 93.18 (n)
  • 97.73 (a)
SORCS1 36
  • 95 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Sorcs1 35
  • 87.86 (n)
  • 93.69 (a)
Sorcs1 16
Sorcs1 36
  • 90 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia SORCS1 35
  • 99.38 (n)
  • 99.58 (a)
SORCS1 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Sorcs1 35
  • 87.57 (n)
  • 93.61 (a)
oppossum
(Monodelphis domestica)
 Mammalia SORCS1 36
  • 94 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia SORCS1 36
  • 93 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SORCS1 35
  • 79.49 (n)
  • 86.49 (a)
SORCS1 36
  • 76 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia -- 36
  • 77 (a)
 OneToMany
-- 36
  • 92 (a)
 OneToMany
zebrafish
(Danio rerio)
 Actinopterygii sorcs1 35
  • 69.22 (n)
  • 71.29 (a)
SORCS1 36
  • 71 (a)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes -- 36
  • 23 (a)
 ManyToMany
-- 36
  • 17 (a)
 ManyToMany
-- 36
  • 18 (a)
 ManyToMany
-- 36
  • 11 (a)
 ManyToMany
-- 36
  • 14 (a)
 ManyToMany
PEP1 36
  • 12 (a)
 ManyToMany
VTH1 36
  • 11 (a)
 ManyToMany
VTH2 36
  • 11 (a)
 ManyToMany
-- 38
-- 38
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 25 (a)
 OneToMany
Species with no ortholog for SORCS1:
  • 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:

Pseudogenes.org Pseudogenes for SORCS1 Gene

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 Sequence Context AA Info Type
VAR_036374 A breast cancer sample
rs1535396 -- 106,634,222(-) ACACA(G/T)TCTAC intron-variant
rs1535397 -- 106,634,066(-) TTACA(A/G)TCCTA intron-variant
rs1536672 -- 106,966,299(+) TAACA(A/T)GTGAA intron-variant
rs1536673 -- 106,991,768(+) AAGAG(A/G)AAAAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv831977 CNV Gain 17160897
nsv7539 CNV Insertion 18451855
esv269214 CNV Insertion 20981092
nsv25362 CNV Loss 16902084
nsv7540 CNV Insertion 18451855
esv2740640 CNV Deletion 23290073
nsv519092 CNV Loss 19592680
nsv831978 CNV Loss 17160897
esv272334 CNV Insertion 20981092
nsv7211 OTHER Inversion 18451855
esv2431185 CNV Deletion 19546169
nsv525854 CNV Loss 19592680
nsv7541 CNV Insertion 18451855
nsv895988 CNV Loss 21882294
esv2740651 CNV Deletion 23290073

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)

Relevant External Links for SORCS1 Gene

Human Gene Mutation Database (HGMD)
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

Relevant External Links for SORCS1

Genetic Association Database (GAD)
SORCS1
Human Genome Epidemiology (HuGE) Navigator
SORCS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SORCS1
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. The genes for the human VPS10 domain-containing receptors are large and contain many small exons. (PMID: 11499680) Hampe W. … Schaller H.C. (Hum. Genet. 2001) 2 3 4 67
  2. Different motifs regulate trafficking of SorCS1 isoforms. (PMID: 18315530) Nielsen M.S. … Hermey G. (Traffic 2008) 3 23
  3. Characterization of sorCS1, an alternatively spliced receptor with completely different cytoplasmic domains that mediate different trafficking in cells. (PMID: 12482870) Hermey G. … Gliemann J. (J. Biol. Chem. 2003) 3 23
  4. Human sorCS1 binds sortilin and hampers its cellular functions. (PMID: 24128306) Larsen J.V. … Petersen C.M. (Biochem. J. 2014) 3
  5. Genome-wide association study link novel loci to endometriosis. (PMID: 23472165) Albertsen H.M. … Ward K. (PLoS ONE 2013) 3

Products for SORCS1 Gene

Sources for SORCS1 Gene

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