Human Gene SORCS3 (ENST00000369701.8) from GENCODE V44
  Description: Homo sapiens sortilin related VPS10 domain containing receptor 3 (SORCS3), mRNA. (from RefSeq NM_014978)
RefSeq Summary (NM_014978): 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].
Gencode Transcript: ENST00000369701.8
Gencode Gene: ENSG00000156395.14
Transcript (Including UTRs)
   Position: hg38 chr10:104,641,290-105,265,242 Size: 623,953 Total Exon Count: 27 Strand: +
Coding Region
   Position: hg38 chr10:104,641,328-105,263,374 Size: 622,047 Coding Exon Count: 27 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:104,641,290-105,265,242)mRNA (may differ from genome)Protein (1222 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SORC3_HUMAN
DESCRIPTION: RecName: Full=VPS10 domain-containing receptor SorCS3; Flags: Precursor;
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
TISSUE SPECIFICITY: Highly expressed in brain.
SIMILARITY: Belongs to the VPS10-related sortilin family. SORCS subfamily.
SIMILARITY: Contains 6 BNR repeats.
SIMILARITY: Contains 1 PKD domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.82 RPKM in Brain - Nucleus accumbens (basal ganglia)
Total median expression: 37.62 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.6038-0.358 Picture PostScript Text
3' UTR -518.601868-0.278 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000601 - PKD_dom
IPR006581 - VPS10

Pfam Domains:
PF00801 - PKD domain

ModBase Predicted Comparative 3D Structure on Q9UPU3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008188 neuropeptide receptor activity

Biological Process:
GO:0007218 neuropeptide signaling pathway
GO:0007612 learning
GO:0007613 memory
GO:1900452 regulation of long term synaptic depression

Cellular Component:
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AB028982 - Homo sapiens mRNA for KIAA1059 protein, complete cds.
BC117417 - Homo sapiens sortilin-related VPS10 domain containing receptor 3, mRNA (cDNA clone MGC:151026 IMAGE:40125968), complete cds.
AB384097 - Synthetic construct DNA, clone: pF1KSDA1059, Homo sapiens SORCS3 gene for sortilin-related VPS10 domain-containing receptor 3, complete cds, without stop codon, in Flexi system.
AK303009 - Homo sapiens cDNA FLJ50313 complete cds, highly similar to VPS10 domain-containing receptor SorCS3 precursor.
BC045754 - Homo sapiens sortilin-related VPS10 domain containing receptor 3, mRNA (cDNA clone IMAGE:4792838), partial cds.
JD104623 - Sequence 85647 from Patent EP1572962.
JD176631 - Sequence 157655 from Patent EP1572962.
JD094698 - Sequence 75722 from Patent EP1572962.
JD325612 - Sequence 306636 from Patent EP1572962.
JD525707 - Sequence 506731 from Patent EP1572962.
JD253248 - Sequence 234272 from Patent EP1572962.
JD124517 - Sequence 105541 from Patent EP1572962.
JD123595 - Sequence 104619 from Patent EP1572962.
JD387177 - Sequence 368201 from Patent EP1572962.
JD207418 - Sequence 188442 from Patent EP1572962.
JD210965 - Sequence 191989 from Patent EP1572962.
JD248264 - Sequence 229288 from Patent EP1572962.
JD124710 - Sequence 105734 from Patent EP1572962.
JD484356 - Sequence 465380 from Patent EP1572962.
JD227974 - Sequence 208998 from Patent EP1572962.
JD355889 - Sequence 336913 from Patent EP1572962.
JD107018 - Sequence 88042 from Patent EP1572962.
JD486662 - Sequence 467686 from Patent EP1572962.
JD452023 - Sequence 433047 from Patent EP1572962.
JD359813 - Sequence 340837 from Patent EP1572962.
JD500255 - Sequence 481279 from Patent EP1572962.
JD182244 - Sequence 163268 from Patent EP1572962.
JD050085 - Sequence 31109 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000369701.1, ENST00000369701.2, ENST00000369701.3, ENST00000369701.4, ENST00000369701.5, ENST00000369701.6, ENST00000369701.7, KIAA1059, NM_014978, Q5VXF9, Q9NQJ2, Q9UPU3, SORC3_HUMAN, uc001kyi.1, uc001kyi.2
UCSC ID: ENST00000369701.8
RefSeq Accession: NM_014978
Protein: Q9UPU3 (aka SORC3_HUMAN or SOR3_HUMAN)
CCDS: CCDS7558.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.