AutismKB 2.0

Annotation Details for SLC7A1


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Basic Information Top
Gene Symbol:SLC7A1 ( ATRC1,CAT-1,ERR,HCAT1,REC1L )
Gene Full Name: solute carrier family 7 (cationic amino acid transporter, y+ system), member 1
Band: 13q12.3
Quick LinksEntrez ID:6541; OMIM: 104615; Uniprot ID:CTR1_HUMAN; ENSEMBL ID: ENSG00000139514; HGNC ID: 11057
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005887TAS-integral component of plasma membrane1718082
GO:0016020IDA-membrane19946888
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding25416956
GO:0015171TAS-amino acid transmembrane transporter activity-
GO:0015181IEA-arginine transmembrane transporter activity-
GO ID Evidence Qualifier GO_term References
GO:0006810NAS-transport1348489
GO:0006865TAS-amino acid transport-
GO:1903826IEA-arginine transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:88117
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (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


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