AutismKB 2.0

Annotation Details for SLC29A1


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Basic Information Top
Gene Symbol:SLC29A1 ( ENT1,MGC1465,MGC3778 )
Gene Full Name: solute carrier family 29 (nucleoside transporters), member 1
Band: 6p21.1
Quick LinksEntrez ID:2030; OMIM: 602193; Uniprot ID:S29A1_HUMAN; ENSEMBL ID: ENSG00000112759; HGNC ID: 11003
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005887IEA-integral component of plasma membrane-
GO:0016020IDA-membrane19946888
GO:0016323IDA-basolateral plasma membrane12527552
GO:0016324IDA-apical plasma membrane12527552
GO:0098794IEA-postsynapse-
GO ID Evidence Qualifier GO_term References
GO:0005337TAS-nucleoside transmembrane transporter activity-
GO ID Evidence Qualifier GO_term References
GO:0006139TAS-nucleobase-containing compound metabolic process8986748
GO:0007595IEA-lactation-
GO:0015858IDA-nucleoside transport12527552
GO:0015862IEA-uridine transport-
GO:0030431IEA-sleep-
GO:0060079IEA-excitatory postsynaptic potential-
GO:0071333IEA-cellular response to glucose stimulus-
GO:0071456IEA-cellular response to hypoxia-
GO:1901642IEA-nucleoside transmembrane transport-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
STK19SLC29A111438314667819 Two-hybrid
STK19SLC29A110834414667819 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1927073
  • 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