AutismKB 2.0

Annotation Details for PCSK1N


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Basic Information Top
Gene Symbol:PCSK1N ( PROSAAS,SAAS )
Gene Full Name: proprotein convertase subtilisin/kexin type 1 inhibitor
Band: Xp11.23
Quick LinksEntrez ID:27344; OMIM: 300399; Uniprot ID:PCSK1_HUMAN; ENSEMBL ID: ENSG00000102109; HGNC ID: 17301
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005615IBA-extracellular space-
GO:0005802IEA-trans-Golgi network-
GO:0030141IEA-secretory granule-
GO:0070062IDA-extracellular exosome23376485
GO ID Evidence Qualifier GO_term References
GO:0004866TAS-endopeptidase inhibitor activity10632593
GO:0004867IEA-serine-type endopeptidase inhibitor activity-
GO:0005102TAS-receptor binding10632593
GO ID Evidence Qualifier GO_term References
GO:0002021IEA-response to dietary excess-
GO:0007218IEA-neuropeptide signaling pathway-
GO:0009409IEA-response to cold-
GO:0010951IEA-negative regulation of endopeptidase activity-
GO:0016486IEA-peptide hormone processing-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1353431
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018