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    SORCS1 sortilin related VPS10 domain containing receptor 1 [ Homo sapiens (human) ]

    Gene ID: 114815, updated on 11-Apr-2024

    Summary

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    Official Symbol
    SORCS1provided by HGNC
    Official Full Name
    sortilin related VPS10 domain containing receptor 1provided by HGNC
    Primary source
    HGNC:HGNC:16697
    See related
    Ensembl:ENSG00000108018 MIM:606283; AllianceGenome:HGNC:16697
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    hSorCS
    Summary
    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]
    Expression
    Broad expression in thyroid (RPKM 5.3), brain (RPKM 3.7) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SORCS1 in Genome Data Viewer
    Location:
    10q25.1
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (106573663..107181138, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (107460647..108068078, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (108333421..108924464, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378472 Neighboring gene ribosomal protein L23a pseudogene 59 Neighboring gene NANOG hESC enhancer GRCh37_chr10:108374682-108375284 Neighboring gene uncharacterized LOC105378473 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2800 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:108610091-108610677 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3990 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:108701498-108702697 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:108716137-108716637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3991 Neighboring gene RNA, 5S ribosomal pseudogene 325 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:108924180-108924373 Neighboring gene uncharacterized LOC105378475 Neighboring gene uncharacterized LOC105378474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3992 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2801 Neighboring gene RNA, 5S ribosomal pseudogene 326

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. SorCS1 inhibits amyloid-β binding to neurexin and rescues amyloid-β-induced synaptic pathology. Lee AK, et al. Life Sci Alliance, 2023 Apr. PMID 36697254, Free PMC Article
    2. Decreased expression of SorCS1 in colorectal cancer: An independent predictor of poor prognosis. Huang PZ, et al. Neoplasma, 2020 Jan. PMID 31829024
    3. SORCS1 polymorphism and insulin secretion in obese women with polycystic ovary syndrome. Hrovat A, et al. Gynecol Endocrinol, 2016. PMID 27052493
    4. The genetic variation of SORCS1 is associated with late-onset Alzheimer's disease in Chinese Han population. Xu W, et al. PLoS One, 2013. PMID 23700427, Free PMC Article
    5. Sortilin-related VPS10 domain containing receptor 1 and Alzheimer's disease-associated allelic variations preferentially exist in female or type 2 diabetes mellitus patients in southern Han Chinese. He Y, et al. Psychogeriatrics, 2012 Dec. PMID 23279143

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SorCS1 inhibits amyloid-beta binding to neurexin and rescues amyloid-beta-induced synaptic pathology.
      Title: SorCS1 inhibits amyloid-β binding to neurexin and rescues amyloid-β-induced synaptic pathology.
    2. SorCS1 is epigenetically inactivated in a substantial fraction of colorectal cancers
      Title: Decreased expression of SorCS1 in colorectal cancer: An independent predictor of poor prognosis.
    3. Here the authors have characterized SorCS1, SorCS2 and SorCS3 using biochemical methods and electron microscopy. They found that their purified extracellular domains co-exist in stable dimeric and monomeric populations.
      Title: Hidden Twins: SorCS Neuroreceptors Form Stable Dimers.
    4. We report for the first time the relevance of SORCS1 polymorphisms for glycemic control and glucose stimulated insulin secretion in obese women with polycystic ovary syndrome. SORCS1 rs1416406 significantly influenced stimulated glucose plasma levels and increased glucose stimulated insulin secretion
      Title: SORCS1 polymorphism and insulin secretion in obese women with polycystic ovary syndrome.
    5. Data identified associations between single nucleotide polymorphisms in SORCS1 and renal function in large cohorts of European and African ancestry.
      Title: SORCS1 contributes to the development of renal disease in rats and humans.
    6. The propeptide region of sorCS1 contains two separate sites for binding to sortilin. One of these sites is removed from human sorCS1 during processing.
      Title: Human sorCS1 binds sortilin and hampers its cellular functions.
    7. Genetic variation of the rs10884402 and rs950809 in intron 1 of SORCS1 is associated with late onset Alzheimer disease in the Chinese Han population.
      Title: The genetic variation of SORCS1 is associated with late-onset Alzheimer's disease in Chinese Han population.
    8. The genetic link between AD[Alzheimer's disease]and SORCS1 gene variations are influenced by ethnic background, sex and whether an individual has type 2 diabetes mellitus
      Title: Sortilin-related VPS10 domain containing receptor 1 and Alzheimer's disease-associated allelic variations preferentially exist in female or type 2 diabetes mellitus patients in southern Han Chinese.
    9. [review] Emerging data from a rapidly growing area of research implicates the Vps10 family of receptors and the retromer in physiological intracellular trafficking by neurotrophins and pathogenesis of neurodegeneration.
      Title: Vps10 family proteins and the retromer complex in aging-related neurodegeneration and diabetes.
    10. Our data suggested that SORCS1 was in interaction with APOE in the development of late-onset Alzheimer's disease in a Northern Han Chinese population
      Title: SORCS1 and APOE polymorphisms interact to confer risk for late-onset Alzheimer's disease in a Northern Han Chinese population.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study link novel loci to endometriosis.
    EBI GWAS Catalog
    Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ41758, FLJ43475, FLJ44957

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables neuropeptide receptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in neuropeptide signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in post-Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    VPS10 domain-containing receptor SorCS1
    Names
    VPS10 domain receptor protein SORCS 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029120.2 RefSeqGene

      Range
      21432..612475
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001013031.3 → NP_001013049.1  VPS10 domain-containing receptor SorCS1 isoform b precursor

      See identical proteins and their annotated locations for NP_001013049.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (b).
      Source sequence(s)
      AB209142, AK123752, AK125464, AL133395, AW137766
      UniProtKB/TrEMBL
      B3KWN9
      Conserved Domains (3) summary
      smart00602
      Location:196 → 793
      VPS10; VPS10 domain
      pfam00801
      Location:807 → 880
      PKD; PKD domain
      pfam15901
      Location:638 → 793
      Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal

    2. NM_001206569.2 → NP_001193498.1  VPS10 domain-containing receptor SorCS1 isoform c precursor

      See identical proteins and their annotated locations for NP_001193498.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 2. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform b.
      Source sequence(s)
      AB209142, AK074581, AK125464, AL133395, AY099452
      UniProtKB/TrEMBL
      B3KWN9
      Conserved Domains (3) summary
      smart00602
      Location:196 → 793
      VPS10; VPS10 domain
      pfam00801
      Location:807 → 880
      PKD; PKD domain
      pfam15901
      Location:638 → 793
      Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal

    3. NM_001206570.2 → NP_001193499.1  VPS10 domain-containing receptor SorCS1 isoform d precursor

      See identical proteins and their annotated locations for NP_001193499.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon compared to variant 2, that causes a frameshift. The resulting isoform (d) has a shorter and distinct C-terminus compared to isoform b.
      Source sequence(s)
      AB209142, AK125464, AK289797, AL133395, AW137766
      UniProtKB/TrEMBL
      A8K182, B3KWN9
      Conserved Domains (2) summary
      smart00602
      Location:196 → 793
      VPS10; VPS10 domain
      pfam00801
      Location:807 → 880
      PKD; PKD domain

    4. NM_001206571.2 → NP_001193500.1  VPS10 domain-containing receptor SorCS1 isoform e precursor

      See identical proteins and their annotated locations for NP_001193500.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 3' UTR and coding sequence compared to variant 2. The resulting isoform (e) has a shorter and distinct C-terminus compared to isoform b.
      Source sequence(s)
      AB209142, AK074581, AK125464, AY099453
      UniProtKB/TrEMBL
      B3KWN9
      Conserved Domains (3) summary
      smart00602
      Location:196 → 793
      VPS10; VPS10 domain
      pfam00801
      Location:807 → 880
      PKD; PKD domain
      pfam15901
      Location:638 → 793
      Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal

    5. NM_001206572.2 → NP_001193501.1  VPS10 domain-containing receptor SorCS1 isoform f precursor

      See identical proteins and their annotated locations for NP_001193501.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 3' UTR and coding sequence compared to variant 2. The resulting isoform (f) has a shorter and distinct C-terminus compared to isoform b.
      Source sequence(s)
      AB209142, AK125464, AL133395, AW137766, EU281344
      UniProtKB/TrEMBL
      B3KWN9, E6Y3G0
      Conserved Domains (2) summary
      smart00602
      Location:196 → 793
      VPS10; VPS10 domain
      pfam00801
      Location:807 → 880
      PKD; PKD domain

    6. NM_001387556.1 → NP_001374485.1  VPS10 domain-containing receptor SorCS1 isoform g precursor

      Status: REVIEWED

      Source sequence(s)
      AL133395, AL160010, AL356255, AL356308, AL357333
      UniProtKB/TrEMBL
      B3KWN9
      Conserved Domains (2) summary
      smart00602
      Location:196 → 793
      VPS10; VPS10 domain
      pfam00801
      Location:807 → 880
      PKD; PKD domain

    7. NM_052918.5 → NP_443150.3  VPS10 domain-containing receptor SorCS1 isoform a precursor

      See identical proteins and their annotated locations for NP_443150.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 3' UTR and coding sequence compared to variant 2. The resulting isoform (a) has a shorter and distinct C-terminus compared to isoform b.
      Source sequence(s)
      AB209142, AF284756, AK125464, AL133395, AW137766
      Consensus CDS
      CCDS7559.1
      UniProtKB/Swiss-Prot
      A2RRF4, Q59GG7, Q5JVT7, Q5JVT8, Q5VY14, Q86WQ1, Q86WQ2, Q8WY21, Q9H1Y1, Q9H1Y2
      UniProtKB/TrEMBL
      B3KWN9
      Related
      ENSP00000263054.5, ENST00000263054.11
      Conserved Domains (3) summary
      smart00602
      Location:196 → 793
      VPS10; VPS10 domain
      pfam00801
      Location:807 → 880
      PKD; PKD domain
      pfam15901
      Location:638 → 793
      Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      106573663..107181138 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017015617.1 → XP_016871106.1  VPS10 domain-containing receptor SorCS1 isoform X9

      UniProtKB/TrEMBL
      B3KX79

    2. XM_047424547.1 → XP_047280503.1  VPS10 domain-containing receptor SorCS1 isoform X5

    3. XM_017015615.3 → XP_016871104.1  VPS10 domain-containing receptor SorCS1 isoform X2

      UniProtKB/TrEMBL
      B3KWN9

    4. XM_047424545.1 → XP_047280501.1  VPS10 domain-containing receptor SorCS1 isoform X3

    5. XM_047424546.1 → XP_047280502.1  VPS10 domain-containing receptor SorCS1 isoform X4

    6. XM_017015616.2 → XP_016871105.1  VPS10 domain-containing receptor SorCS1 isoform X8

      UniProtKB/TrEMBL
      B3KX79

    7. XM_017015618.1 → XP_016871107.1  VPS10 domain-containing receptor SorCS1 isoform X10

      UniProtKB/TrEMBL
      B3KVZ0
      Related
      ENSP00000358712.2, ENST00000369698.6

    8. XM_011539199.4 → XP_011537501.1  VPS10 domain-containing receptor SorCS1 isoform X1

      See identical proteins and their annotated locations for XP_011537501.1

      UniProtKB/TrEMBL
      B3KWN9, E6Y3F9
      Conserved Domains (2) summary
      smart00602
      Location:196 → 793
      VPS10; VPS10 domain
      pfam00801
      Location:807 → 880
      PKD; PKD domain

    9. XM_047424548.1 → XP_047280504.1  VPS10 domain-containing receptor SorCS1 isoform X7

    10. XM_011539201.4 → XP_011537503.1  VPS10 domain-containing receptor SorCS1 isoform X6

      UniProtKB/TrEMBL
      B3KWN9
      Conserved Domains (3) summary
      smart00602
      Location:196 → 793
      VPS10; VPS10 domain
      pfam00801
      Location:807 → 880
      PKD; PKD domain
      pfam15901
      Location:638 → 793
      Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      107460647..108068078 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364668.1 → XP_054220643.1  VPS10 domain-containing receptor SorCS1 isoform X9

    2. XM_054364664.1 → XP_054220639.1  VPS10 domain-containing receptor SorCS1 isoform X5

    3. XM_054364661.1 → XP_054220636.1  VPS10 domain-containing receptor SorCS1 isoform X2

    4. XM_054364662.1 → XP_054220637.1  VPS10 domain-containing receptor SorCS1 isoform X3

    5. XM_054364663.1 → XP_054220638.1  VPS10 domain-containing receptor SorCS1 isoform X4

    6. XM_054364667.1 → XP_054220642.1  VPS10 domain-containing receptor SorCS1 isoform X8

    7. XM_054364669.1 → XP_054220644.1  VPS10 domain-containing receptor SorCS1 isoform X10

    8. XM_054364660.1 → XP_054220635.1  VPS10 domain-containing receptor SorCS1 isoform X1

      UniProtKB/TrEMBL
      E6Y3F9

    9. XM_054364666.1 → XP_054220641.1  VPS10 domain-containing receptor SorCS1 isoform X7

    10. XM_054364665.1 → XP_054220640.1  VPS10 domain-containing receptor SorCS1 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WY21.3 GenPept UniProtKB/Swiss-Prot:Q8WY21

    Gene LinkOut

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