AutismKB 2.0

Annotation Details for PMEPA1


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Basic Information Top
Gene Symbol:PMEPA1 ( STAG1,TMEPAI )
Gene Full Name: prostate transmembrane protein, androgen induced 1
Band: 20q13.31
Quick LinksEntrez ID:56937; OMIM: 606564; Uniprot ID:PMEPA_HUMAN; ENSEMBL ID: ENSG00000124225; HGNC ID: 14107
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139IDA-Golgi membrane20129061
GO:0005886TAS-plasma membrane-
GO:0010008IDA-endosome membrane20129061
GO:0016021NAS-integral component of membrane10873380
GO:0031901IDA-early endosome membrane24627487
GO:0031901TAS-early endosome membrane-
GO:0043231IDA-intracellular membrane-bounded organelle-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding24627487
GO:0050699IPI-WW domain binding12907594
GO:0070412IPI-R-SMAD binding20129061
GO ID Evidence Qualifier GO_term References
GO:0010991IDA-negative regulation of SMAD protein complex assembly20129061
GO:0030512IDA-negative regulation of transforming growth factor beta receptor signaling pathway24627487
GO:0030512IMP-negative regulation of transforming growth factor beta receptor signaling pathway20129061
GO:0030512TAS-negative regulation of transforming growth factor beta receptor signaling pathway-
GO:0030521NAS-androgen receptor signaling pathway10873380
GO:0060394IDA-negative regulation of pathway-restricted SMAD protein phosphorylation24627487
GO:0060394IMP-negative regulation of pathway-restricted SMAD protein phosphorylation20129061
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PMEPA1AR10686218703514 Affinity Capture-Western
PMEPA1AR12126218703514 Affinity Capture-Western
PMEPA1NEDD411081112907594 Affinity Capture-Western; Reconstituted Complex
PMEPA1NEDD412126212907594 Affinity Capture-Western; Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1929600
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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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