Entity Details

Primary name SLC1A4
Entity type gene
Source Source Link

Details

PrimaryID6509
RefseqGeneNG_053002
SymbolSLC1A4
Namesolute carrier family 1 member 4
Chromosome2
Location2p14
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSATT_HUMAN

GO terms

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GOName
GO:0005254 chloride channel activity
GO:0005813 centrosome
GO:0005882 intermediate filament
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006865 amino acid transport
GO:0006868 glutamine transport
GO:0009986 cell surface
GO:0015180 L-alanine transmembrane transporter activity
GO:0015183 L-aspartate transmembrane transporter activity
GO:0015184 L-cystine transmembrane transporter activity
GO:0015186 L-glutamine transmembrane transporter activity
GO:0015193 L-proline transmembrane transporter activity
GO:0015194 L-serine transmembrane transporter activity
GO:0015195 L-threonine transmembrane transporter activity
GO:0015293 symporter activity
GO:0015808 L-alanine transport
GO:0015811 L-cystine transport
GO:0015824 proline transport
GO:0015825 L-serine transport
GO:0015826 threonine transport
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030425 dendrite
GO:0034589 hydroxyproline transport
GO:0034590 L-hydroxyproline transmembrane transporter activity
GO:0035249 synaptic transmission, glutamatergic
GO:0042470 melanosome
GO:0043025 neuronal cell body
GO:0045202 synapse
GO:0050890 cognition
GO:0070062 extracellular exosome
GO:0140009 L-aspartate import across plasma membrane
GO:0150104 transport across blood-brain barrier
GO:1903812 L-serine import across plasma membrane
GO:1904273 L-alanine import across plasma membrane

Diseases

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Disease IDSourceNameDescription
616657 OMIMSpastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM)A neurodevelopmental disorder characterized by thin corpus callosum, severe progressive microcephaly, severe intellectual disability, seizures, spasticity, and global developmental delay. Most patients are unable to achieve independent walking or speech. The disease is caused by variants affecting the gene represented in this entry.