• Gene id: 6509

Gene Summary

• Gene Symbol: SLC1A4   Gene   UCSC   Ensembl
• Aliases: ASCT1, SATT, SPATCCM
• Gene name: solute carrier family 1 member 4
• Alternate names: neutral amino acid transporter A, alanine/serine/cysteine/threonine transporter 1, glutamate/neutral amino acid transporter, solute carrier family 1 (glutamate/neutral amino acid transporter), member 4,
• Gene location: 2p14 (64988478: 65023864)     Exons: 9     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by
• OMIM: 600229

Protein Summary

• Protein general information: P43007  
  • Name: Neutral amino acid transporter A (Alanine/serine/cysteine/threonine transporter 1) (ASCT 1) (SATT) (Solute carrier family 1 member 4)
  • Length: 532  
  • Mass: 55723
  • Tissue specificity: Expressed mostly in brain, muscle, and pancreas but detected in all tissues examined.
• Sequence:

  MEKSNETNGYLDSAQAGPAAGPGAPGTAAGRARRCAGFLRRQALVLLTVSGVLAGAGLGAALRGLSLSRTQVTYL
  AFPGEMLLRMLRMIILPLVVCSLVSGAASLDASCLGRLGGIAVAYFGLTTLSASALAVALAFIIKPGSGAQTLQS
  SDLGLEDSGPPPVPKETVDSFLDLARNLFPSNLVVAAFRTYATDYKVVTQNSSSGNVTHEKIPIGTEIEGMNILG
  LVLFALVLGVALKKLGSEGEDLIRFFNSLNEATMVLVSWIMWYVPVGIMFLVGSKIVEMKDIIVLVTSLGKYIFA
  SILGHVIHGGIVLPLIYFVFTRKNPFRFLLGLLAPFATAFATCSSSATLPSMMKCIEENNGVDKRISRFILPIGA
  TVNMDGAAIFQCVAAVFIAQLNNVELNAGQIFTILVTATASSVGAAGVPAGGVLTIAIILEAIGLPTHDLPLILA
  VDWIVDRTTTVVNVEGDALGAGILHHLNQKATKKGEQELAEVKVEAIPNCKSEEETSPLVTHQNPAGPVASAPEL
  ESKESVL

• Structural information:
  • Interpro: IPR001991  IPR018107  IPR036458  
  • Prosite: PS00713 PS00714
  • STRING: ENSP00000234256
• Other Databases: GeneCards:  SLC1A4  Malacards:  SLC1A4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IDA	cellular component
GO:0015183	L-aspartate transmembrane transporter activity	ISS	molecular function
GO:0015180	L-alanine transmembrane transporter activity	IMP	molecular function
GO:0015194	L-serine transmembrane transporter activity	IMP	molecular function
GO:0140009	L-aspartate import across plasma membrane	ISS	biological process
GO:1903812	L-serine import across plasma membrane	IMP	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:1904273	L-alanine import across plasma membrane	IMP	biological process
GO:0005886	plasma membrane	IMP	is active in
GO:0015293	symporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0006865	amino acid transport	TAS	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0015825	L-serine transport	IEA	biological process
GO:0015194	L-serine transmembrane transporter activity	IEA	molecular function
GO:0015175	neutral amino acid transmembrane transporter activity	IEA	molecular function
GO:0005882	intermediate filament	IEA	cellular component
GO:0015186	L-glutamine transmembrane transporter activity	TAS	molecular function
GO:0006868	glutamine transport	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0035524	proline transmembrane transport	IEA	biological process
GO:0015808	L-alanine transport	IDA	biological process
GO:0015193	L-proline transmembrane transporter activity	IDA	molecular function
GO:0015184	L-cystine transmembrane transporter activity	IDA	NOT|molecular function
GO:0015184	L-cystine transmembrane transporter activity	IDA	molecular function
GO:0034590	L-hydroxyproline transmembrane transporter activity	IDA	molecular function
GO:0034589	hydroxyproline transport	IDA	biological process
GO:0015825	L-serine transport	IDA	biological process
GO:0015825	L-serine transport	IDA	biological process
GO:0015825	L-serine transport	IDA	biological process
GO:0015824	proline transport	IDA	biological process
GO:0015811	L-cystine transport	IDA	biological process
GO:0015194	L-serine transmembrane transporter activity	IDA	molecular function
GO:0015180	L-alanine transmembrane transporter activity	IDA	molecular function
GO:0005254	chloride channel activity	IDA	molecular function
GO:0015826	threonine transport	IDA	biological process
GO:0015811	L-cystine transport	IDA	NOT|biological process
GO:0015811	L-cystine transport	IDA	biological process
GO:0015194	L-serine transmembrane transporter activity	IDA	molecular function
GO:0015194	L-serine transmembrane transporter activity	IDA	molecular function
GO:0015180	L-alanine transmembrane transporter activity	IDA	molecular function
GO:0015180	L-alanine transmembrane transporter activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IC	cellular component
GO:0015808	L-alanine transport	IDA	biological process
GO:0015808	L-alanine transport	IDA	biological process
GO:0015195	L-threonine transmembrane transporter activity	IDA	molecular function
GO:0015184	L-cystine transmembrane transporter activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0009986	cell surface	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0035249	synaptic transmission, glutamatergic	NAS	biological process
GO:0050890	cognition	IMP	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0005882	intermediate filament	ISS	cellular component

Diseases

Associated diseases	References
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	KEGG:H02282
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	KEGG:H02282
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray