• Gene id: 22986

Gene Summary

• Gene Symbol: SORCS3   Gene   UCSC   Ensembl
• Aliases: SORCS
• Gene name: sortilin related VPS10 domain containing receptor 3
• Alternate names: VPS10 domain-containing receptor SorCS3, VPS10 domain receptor protein SORCS 3 (SORCS3),
• Gene location: 10q25.1 (104641289: 105265241)     Exons: 7     NC_000010.11
• Gene summary(Entrez): 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 do
• OMIM: 606285

Protein Summary

• Protein general information: Q9UPU3  
  • Name: VPS10 domain containing receptor SorCS3
  • Length: 1222  
  • Mass: 135755
  • Tissue specificity: Highly expressed in brain.
• Sequence:

  MEAARTERPAGRPGAPLVRTGLLLLSTWVLAGAEITWDATGGPGRPAAPASRPPALSPLSPRAVASQWPEELASA
  RRAAVLGRRAGPELLPQQGGGRGGEMQVEAGGTSPAGERRGRGIPAPAKLGGARRSRRAQPPITQERGDAWATAP
  ADGSRGSRPLAKGSREEVKAPRAGGSAAEDLRLPSTSFALTGDSAHNQAMVHWSGHNSSVILILTKLYDFNLGSV
  TESSLWRSTDYGTTYEKLNDKVGLKTVLSYLYVNPTNKRKIMLLSDPEMESSILISSDEGATYQKYRLTFYIQSL
  LFHPKQEDWVLAYSLDQKLYSSMDFGRRWQLMHERITPNRFYWSVAGLDKEADLVHMEVRTTDGYAHYLTCRIQE
  CAETTRSGPFARSIDISSLVVQDEYIFIQVTTSGRASYYVSYRREAFAQIKLPKYSLPKDMHIISTDENQVFAAV
  QEWNQNDTYNLYISDTRGIYFTLAMENIKSSRGLMGNIIIELYEVAGIKGIFLANKKVDDQVKTYITYNKGRDWR
  LLQAPDVDLRGSPVHCLLPFCSLHLHLQLSENPYSSGRISSKETAPGLVVATGNIGPELSYTDIGVFISSDGGNT
  WRQIFDEEYNVWFLDWGGALVAMKHTPLPVRHLWVSFDEGHSWDKYGFTSVPLFVDGALVEAGMETHIMTVFGHF
  SLRSEWQLVKVDYKSIFSRHCTKEDYQTWHLLNQGEPCVMGERKIFKKRKPGAQCALGRDHSGSVVSEPCVCANW
  DFECDYGYERHGESQCVPAFWYNPASPSKDCSLGQSYLNSTGYRRIVSNNCTDGLREKYTAKAQMCPGKAPRGLH
  VVTTDGRLVAEQGHNATFIILMEEGDLQRTNIQLDFGDGIAVSYANFSPIEDGIKHVYKSAGIFQVTAYAENNLG
  SDTAVLFLHVVCPVEHVHLRVPFVAIRNKEVNISAVVWPSQLGTLTYFWWFGNSTKPLITLDSSISFTFLAEGTD
  TITVQVAAGNALIQDTKEIAVHEYFQSQLLSFSPNLDYHNPDIPEWRKDIGNVIKRALVKVTSVPEDQILIAVFP
  GLPTSAELFILPPKNLTERRKGNEGDLEQIVETLFNALNQNLVQFELKPGVQVIVYVTQLTLAPLVDSSAGHSSS
  AMLMLLSVVFVGLAVFLIYKFKRKIPWINIYAQVQHDKEQEMIGSVSQSENAPKITLSDFTEPEELLDKELDTRV
  IGGIATIANSESTKEIPNCTSV

• Structural information:
  • Protein Domains: (827..91-)
    (/note="PKD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00151"-)
  • Interpro: IPR013783  IPR000601  IPR035986  IPR031777  IPR031778   IPR006581  IPR015943  
  • Prosite: PS50093
  • STRING: ENSP00000358715
• Other Databases: GeneCards:  SORCS3  Malacards:  SORCS3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0099061	integral component of postsynaptic density membrane	IBA	cellular component
GO:0016021	integral component of membrane	IBA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007613	memory	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0007612	learning	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0099061	integral component of postsynaptic density membrane	IEA	cellular component
GO:1900452	regulation of long-term synaptic depression	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	NAS	cellular component
GO:0008188	neuropeptide receptor activity	NAS	molecular function
GO:0007218	neuropeptide signaling pathway	NAS	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq