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

Gene ID: 22986, updated on 13-Mar-2020

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
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

Genomic context

See SORCS3 in Genome Data Viewer
Location:
10q25.1
Exon count:
28
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (104641290..105265242)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (106400859..107024993)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2620 Neighboring gene uncharacterized LOC105378464 Neighboring gene SORCS3 antisense RNA 1 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

Homology

Clone Names

  • 6330404A12Rik

Gene Ontology Provided by GOA

Function Evidence Code Pubs
neuropeptide receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
learning IEA
Inferred from Electronic Annotation
more info
 
memory IEA
Inferred from Electronic Annotation
more info
 
neuropeptide signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
regulation of long-term synaptic depression IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of postsynaptic density membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    Q9UPU3
    UniProtKB/TrEMBL
    Q86XB2
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 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
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