Neutral amino acid transporter A

Neutral amino acid transporter A is a protein that in humans is encoded by the SLC1A4 gene.^[5][6][7] In humans, it is expressed in the brain, lung, skeletal muscle, intestine and kidney.^[8]

SLC1A4
Identifiers
Aliases	SLC1A4, ASCT1, SATT, solute carrier family 1 member 4
External IDs	OMIM: 600229; MGI: 2135601; HomoloGene: 20655; GeneCards: SLC1A4; OMA:SLC1A4 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p14 Start 64,988,477 bp[1] End 65,023,865 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 A3.1|11 12.97 cM Start 20,252,180 bp[2] End 20,282,713 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell sperm glutes spinal ganglia entorhinal cortex internal globus pallidus nucleus accumbens external globus pallidus Skeletal muscle tissue of biceps brachii middle temporal gyrus Top expressed in supraoptic nucleus paraventricular nucleus of hypothalamus arcuate nucleus ascending aorta crypt of lieberkuhn of small intestine aortic valve fossa median eminence deep cerebellar nuclei medial vestibular nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function L-glutamine transmembrane transporter activity L-threonine transmembrane transporter activity L-proline transmembrane transporter activity L-serine transmembrane transporter activity L-hydroxyproline transmembrane transporter activity L-cystine transmembrane transporter activity neutral amino acid transmembrane transporter activity L-alanine transmembrane transporter activity symporter activity chloride channel activity amino acid transmembrane transporter activity Cellular component integral component of membrane membrane melanosome plasma membrane integral component of plasma membrane cell surface soma dendrite extracellular exosome intermediate filament centrosome microtubule organizing center Biological process synaptic transmission, glutamatergic cognition L-alanine transport proline transport hydroxyproline transport amino acid transport L-cystine transport L-serine transport glutamine transport threonine transport chloride transmembrane transport amino acid transmembrane transport proline transmembrane transport transmembrane transport chloride transport transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6509 55963 Ensembl ENSG00000115902 ENSMUSG00000020142 UniProt P43007 O35874 RefSeq (mRNA) NM_001135581 NM_001193493 NM_003038 NM_001348406 NM_001348407 NM_018861 RefSeq (protein) NP_001180422 NP_003029 NP_001335335 NP_001335336 NP_061349 Location (UCSC) Chr 2: 64.99 – 65.02 Mb Chr 11: 20.25 – 20.28 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

The transporter is responsible for transport of L-serine, D-serine, L-alanine, L-cysteine, and L-threonine.

Pathology

Mutations of the gene cause a disease called spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM). This disorder is inherited in an autosomal recessive fashion.

Interactions

In melanocytic cells SLC1A4 gene expression may be regulated by MITF.^[9]

See also

• Glutamate transporter
• Solute carrier family