Entity Details

Primary name SLC45A1
Entity type gene
Source Source Link

Details

PrimaryID50651
RefseqGeneNG_034025
SymbolSLC45A1
Namesolute carrier family 45 member 1
Chromosome1
Location1p36.23
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-04-10
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsS45A1_HUMAN

GO terms

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GOName
GO:0008506 sucrose:proton symporter activity
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:1904659 glucose transmembrane transport

Diseases

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Disease IDSourceNameDescription
617532 OMIMIntellectual developmental disorder with neuropsychiatric features (IDDNPF)An autosomal recessive disorder characterized by moderate to severe intellectual disability, epilepsy, and variable neuropsychiatric features, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphism may also be present. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
SLC45A1PPP1CABioGRID, IntAct22321011 details