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    SORCS3 sortilin related VPS10 domain containing receptor 3 [ Homo sapiens (human) ]

    Gene ID: 22986, updated on 2-May-2024

    Summary

    Official Symbol
    SORCS3provided by HGNC
    Official Full Name
    sortilin related VPS10 domain containing receptor 3provided by HGNC
    Primary source
    HGNC:HGNC:16699
    See related
    Ensembl:ENSG00000156395 MIM:606285; AllianceGenome:HGNC:16699
    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
    SORCS
    Summary
    This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 2014]
    Expression
    Biased expression in brain (RPKM 4.8), adrenal (RPKM 1.2) and 1 other tissue See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SORCS3 in Genome Data Viewer
    Location:
    10q25.1
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (104641290..105265242)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (105529365..106155464)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (106401048..107025000)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:106240617-106241118 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:106241119-106241618 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:106267772-106267962 Neighboring gene long intergenic non-protein coding RNA 2620 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:106293232-106293744 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:106293745-106294257 Neighboring gene uncharacterized LOC105378464 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:106440811-106441310 Neighboring gene SORCS3 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr10:106494760-106495717 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:106568733-106569932 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:106827987-106829186 Neighboring gene uncharacterized LOC105378465 Neighboring gene uncharacterized LOC105378466 Neighboring gene uncharacterized LOC105378467

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • 6330404A12Rik

    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 learning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuropeptide signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in postsynaptic modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of long-term synaptic depression IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in postsynaptic density membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    VPS10 domain-containing receptor SorCS3
    Names
    VPS10 domain receptor protein SORCS 3 (SORCS3)

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_014978.3NP_055793.1  VPS10 domain-containing receptor SorCS3 precursor

      See identical proteins and their annotated locations for NP_055793.1

      Status: REVIEWED

      Source sequence(s)
      AB028982, AL353900, BC045754
      Consensus CDS
      CCDS7558.1
      UniProtKB/Swiss-Prot
      Q5VXF9, Q9NQJ2, Q9UPU3
      UniProtKB/TrEMBL
      Q17R88
      Related
      ENSP00000358715.3, ENST00000369701.8
      Conserved Domains (4) summary
      smart00602
      Location:219817
      VPS10; VPS10 domain
      pfam00801
      Location:831904
      PKD; PKD domain
      pfam12300
      Location:73184
      DUF3628; Protein of unknown function (DUF3628)
      pfam15901
      Location:665817
      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
      104641290..105265242
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539542.2XP_011537844.1  VPS10 domain-containing receptor SorCS3 isoform X1

      Conserved Domains (3) summary
      smart00602
      Location:1461
      VPS10; VPS10 domain
      pfam00801
      Location:475548
      PKD; PKD domain
      pfam15901
      Location:309461
      Sortilin_C; Sortilin, neurotensin receptor 3, C-terminal

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      105529365..106155464
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365273.1XP_054221248.1  VPS10 domain-containing receptor SorCS3 isoform X1