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Protein

Neutral amino acid transporter A

Gene

SLC1A4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transporter for alanine, serine, cysteine, and threonine. Exhibits sodium dependence.1 Publication

GO - Molecular functioni

  • amino acid transmembrane transporter activity Source: Reactome
  • chloride channel activity Source: UniProtKB
  • L-alanine transmembrane transporter activity Source: UniProtKB
  • L-cystine transmembrane transporter activity Source: UniProtKB
  • L-glutamine transmembrane transporter activity Source: BHF-UCL
  • L-hydroxyproline transmembrane transporter activity Source: UniProtKB
  • L-proline transmembrane transporter activity Source: UniProtKB
  • L-serine transmembrane transporter activity Source: UniProtKB
  • L-threonine transmembrane transporter activity Source: UniProtKB
  • symporter activity Source: UniProtKB-KW

GO - Biological processi

  • amino acid transport Source: Reactome
  • cognition Source: UniProtKB
  • glutamine transport Source: BHF-UCL
  • hydroxyproline transport Source: UniProtKB
  • L-alanine transport Source: UniProtKB
  • L-cystine transport Source: UniProtKB
  • L-serine transport Source: UniProtKB
  • proline transport Source: UniProtKB
  • synaptic transmission, glutamatergic Source: UniProtKB
  • threonine transport Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Symport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000115902-MONOMER.
ReactomeiR-HSA-352230. Amino acid transport across the plasma membrane.

Protein family/group databases

TCDBi2.A.23.3.1. the dicarboxylate/amino acid:cation (na(+) or h(+)) symporter (daacs) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Neutral amino acid transporter A
Alternative name(s):
Alanine/serine/cysteine/threonine transporter 1
Short name:
ASCT-1
SATT
Solute carrier family 1 member 4
Gene namesi
Name:SLC1A4
Synonyms:ASCT1, SATT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:10942. SLC1A4.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 41CytoplasmicSequence analysisAdd BLAST41
Transmembranei42 – 62HelicalSequence analysisAdd BLAST21
Transmembranei88 – 108HelicalSequence analysisAdd BLAST21
Transmembranei119 – 139HelicalSequence analysisAdd BLAST21
Topological domaini140 – 216ExtracellularSequence analysisAdd BLAST77
Transmembranei217 – 237HelicalSequence analysisAdd BLAST21
Transmembranei257 – 277HelicalSequence analysisAdd BLAST21
Transmembranei298 – 318HelicalSequence analysisAdd BLAST21
Transmembranei328 – 348HelicalSequence analysisAdd BLAST21
Transmembranei373 – 393HelicalSequence analysisAdd BLAST21
Transmembranei418 – 438HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • cell surface Source: UniProtKB
  • centrosome Source: HPA
  • dendrite Source: Ensembl
  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: UniProtKB
  • integral component of plasma membrane Source: UniProtKB
  • intermediate filament Source: UniProtKB
  • melanosome Source: UniProtKB-SubCell
  • membrane Source: UniProtKB
  • microtubule organizing center Source: HPA
  • neuronal cell body Source: Ensembl
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:616657
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075085256E → K in SPATCCM; does not affect localization at the cell surface; decreased uptake of L-serine and L-alanine; Vmax is decreased by at least 50% for both substrates; 3-fold increase of affinity for L-serine; 2-fold increase of affinity for L-alanine. 3 PublicationsCorresponds to variant rs201278558dbSNPEnsembl.1
Natural variantiVAR_075086457R → W in SPATCCM; does not affect localization at the cell surface; loss of uptake of L-serine and L-alanine. 1 PublicationCorresponds to variant rs761533681dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNETi6509.
MIMi616657. phenotype.
OpenTargetsiENSG00000115902.
PharmGKBiPA35829.

Chemistry databases

DrugBankiDB00160. L-Alanine.

Polymorphism and mutation databases

BioMutaiSLC1A4.
DMDMi1173365.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002020791 – 532Neutral amino acid transporter AAdd BLAST532

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Glycosylationi201N-linked (GlcNAc...)1 Publication1
Glycosylationi206N-linked (GlcNAc...)1 Publication1
Modified residuei507PhosphoserineCombined sources1
Modified residuei527PhosphoserineBy similarity1
Modified residuei530PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP43007.
MaxQBiP43007.
PaxDbiP43007.
PeptideAtlasiP43007.
PRIDEiP43007.

PTM databases

iPTMnetiP43007.
PhosphoSitePlusiP43007.
SwissPalmiP43007.

Miscellaneous databases

PMAP-CutDBP43007.

Expressioni

Tissue specificityi

Expressed mostly in brain, muscle, and pancreas but detected in all tissues examined.

Gene expression databases

BgeeiENSG00000115902.
CleanExiHS_SLC1A4.
GenevisibleiP43007. HS.

Organism-specific databases

HPAiHPA034963.
HPA034964.

Interactioni

Protein-protein interaction databases

BioGridi112400. 5 interactors.
IntActiP43007. 1 interactor.
MINTiMINT-4656683.
STRINGi9606.ENSP00000234256.

Structurei

3D structure databases

ProteinModelPortaliP43007.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3787. Eukaryota.
COG1301. LUCA.
GeneTreeiENSGT00760000119117.
HOGENOMiHOG000208776.
HOVERGENiHBG000080.
InParanoidiP43007.
KOiK05615.
OMAiCMAAVFI.
OrthoDBiEOG091G0UCE.
PhylomeDBiP43007.
TreeFamiTF315206.

Family and domain databases

Gene3Di1.10.3860.10. 2 hits.
InterProiIPR001991. Na-dicarboxylate_symporter.
IPR018107. Na-dicarboxylate_symporter_CS.
[Graphical view]
PANTHERiPTHR11958. PTHR11958. 1 hit.
PfamiPF00375. SDF. 1 hit.
[Graphical view]
PRINTSiPR00173. EDTRNSPORT.
SUPFAMiSSF118215. SSF118215. 2 hits.
PROSITEiPS00713. NA_DICARBOXYL_SYMP_1. 1 hit.
PS00714. NA_DICARBOXYL_SYMP_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P43007-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEKSNETNGY LDSAQAGPAA GPGAPGTAAG RARRCAGFLR RQALVLLTVS
60 70 80 90 100
GVLAGAGLGA ALRGLSLSRT QVTYLAFPGE MLLRMLRMII LPLVVCSLVS
110 120 130 140 150
GAASLDASCL GRLGGIAVAY FGLTTLSASA LAVALAFIIK PGSGAQTLQS
160 170 180 190 200
SDLGLEDSGP PPVPKETVDS FLDLARNLFP SNLVVAAFRT YATDYKVVTQ
210 220 230 240 250
NSSSGNVTHE KIPIGTEIEG MNILGLVLFA LVLGVALKKL GSEGEDLIRF
260 270 280 290 300
FNSLNEATMV LVSWIMWYVP VGIMFLVGSK IVEMKDIIVL VTSLGKYIFA
310 320 330 340 350
SILGHVIHGG IVLPLIYFVF TRKNPFRFLL GLLAPFATAF ATCSSSATLP
360 370 380 390 400
SMMKCIEENN GVDKRISRFI LPIGATVNMD GAAIFQCVAA VFIAQLNNVE
410 420 430 440 450
LNAGQIFTIL VTATASSVGA AGVPAGGVLT IAIILEAIGL PTHDLPLILA
460 470 480 490 500
VDWIVDRTTT VVNVEGDALG AGILHHLNQK ATKKGEQELA EVKVEAIPNC
510 520 530
KSEEETSPLV THQNPAGPVA SAPELESKES VL
Length:532
Mass (Da):55,723
Last modified:November 1, 1995 - v1
Checksum:i57925860042FCEB6
GO
Isoform 2 (identifier: P43007-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-220: Missing.
     267-345: WYVPVGIMFL...FATAFATCSS → C

Note: No experimental confirmation available.
Show »
Length:234
Mass (Da):24,620
Checksum:i4478DAA139931DAB
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti117A → R in AAA02761 (PubMed:8101838).Curated1
Sequence conflicti127S → T in AAA19438 (PubMed:8340364).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01187837G → R.Corresponds to variant rs1064512dbSNPEnsembl.1
Natural variantiVAR_075085256E → K in SPATCCM; does not affect localization at the cell surface; decreased uptake of L-serine and L-alanine; Vmax is decreased by at least 50% for both substrates; 3-fold increase of affinity for L-serine; 2-fold increase of affinity for L-alanine. 3 PublicationsCorresponds to variant rs201278558dbSNPEnsembl.1
Natural variantiVAR_011879399V → I.Corresponds to variant rs759458dbSNPEnsembl.1
Natural variantiVAR_075086457R → W in SPATCCM; does not affect localization at the cell surface; loss of uptake of L-serine and L-alanine. 1 PublicationCorresponds to variant rs761533681dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0428801 – 220Missing in isoform 2. 1 PublicationAdd BLAST220
Alternative sequenceiVSP_042881267 – 345WYVPV…ATCSS → C in isoform 2. 1 PublicationAdd BLAST79

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L14595 mRNA. Translation: AAA02761.1.
L19444 mRNA. Translation: AAA19438.1.
U05235
, U05229, U05230, U05231, U05232, U05233, U05234 Genomic DNA. Translation: AAC51349.1.
AK295687 mRNA. Translation: BAH12156.1.
AC007386 Genomic DNA. Translation: AAF03519.1.
CH471053 Genomic DNA. Translation: EAW99932.1.
CH471053 Genomic DNA. Translation: EAW99933.1.
BC026216 mRNA. Translation: AAH26216.1.
BC072423 mRNA. Translation: AAH72423.1.
CCDSiCCDS1879.1. [P43007-1]
CCDS54362.1. [P43007-2]
PIRiI37188.
I55389.
RefSeqiNP_001180422.1. NM_001193493.1. [P43007-2]
NP_003029.2. NM_003038.4. [P43007-1]
UniGeneiHs.654352.

Genome annotation databases

EnsembliENST00000234256; ENSP00000234256; ENSG00000115902. [P43007-1]
ENST00000531327; ENSP00000431942; ENSG00000115902. [P43007-2]
GeneIDi6509.
KEGGihsa:6509.
UCSCiuc010ypz.3. human. [P43007-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L14595 mRNA. Translation: AAA02761.1.
L19444 mRNA. Translation: AAA19438.1.
U05235
, U05229, U05230, U05231, U05232, U05233, U05234 Genomic DNA. Translation: AAC51349.1.
AK295687 mRNA. Translation: BAH12156.1.
AC007386 Genomic DNA. Translation: AAF03519.1.
CH471053 Genomic DNA. Translation: EAW99932.1.
CH471053 Genomic DNA. Translation: EAW99933.1.
BC026216 mRNA. Translation: AAH26216.1.
BC072423 mRNA. Translation: AAH72423.1.
CCDSiCCDS1879.1. [P43007-1]
CCDS54362.1. [P43007-2]
PIRiI37188.
I55389.
RefSeqiNP_001180422.1. NM_001193493.1. [P43007-2]
NP_003029.2. NM_003038.4. [P43007-1]
UniGeneiHs.654352.

3D structure databases

ProteinModelPortaliP43007.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112400. 5 interactors.
IntActiP43007. 1 interactor.
MINTiMINT-4656683.
STRINGi9606.ENSP00000234256.

Chemistry databases

DrugBankiDB00160. L-Alanine.

Protein family/group databases

TCDBi2.A.23.3.1. the dicarboxylate/amino acid:cation (na(+) or h(+)) symporter (daacs) family.

PTM databases

iPTMnetiP43007.
PhosphoSitePlusiP43007.
SwissPalmiP43007.

Polymorphism and mutation databases

BioMutaiSLC1A4.
DMDMi1173365.

Proteomic databases

EPDiP43007.
MaxQBiP43007.
PaxDbiP43007.
PeptideAtlasiP43007.
PRIDEiP43007.

Protocols and materials databases

DNASUi6509.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000234256; ENSP00000234256; ENSG00000115902. [P43007-1]
ENST00000531327; ENSP00000431942; ENSG00000115902. [P43007-2]
GeneIDi6509.
KEGGihsa:6509.
UCSCiuc010ypz.3. human. [P43007-1]

Organism-specific databases

CTDi6509.
DisGeNETi6509.
GeneCardsiSLC1A4.
HGNCiHGNC:10942. SLC1A4.
HPAiHPA034963.
HPA034964.
MIMi600229. gene.
616657. phenotype.
neXtProtiNX_P43007.
OpenTargetsiENSG00000115902.
PharmGKBiPA35829.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3787. Eukaryota.
COG1301. LUCA.
GeneTreeiENSGT00760000119117.
HOGENOMiHOG000208776.
HOVERGENiHBG000080.
InParanoidiP43007.
KOiK05615.
OMAiCMAAVFI.
OrthoDBiEOG091G0UCE.
PhylomeDBiP43007.
TreeFamiTF315206.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000115902-MONOMER.
ReactomeiR-HSA-352230. Amino acid transport across the plasma membrane.

Miscellaneous databases

ChiTaRSiSLC1A4. human.
GeneWikiiSLC1A4.
GenomeRNAii6509.
PMAP-CutDBP43007.
PROiP43007.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000115902.
CleanExiHS_SLC1A4.
GenevisibleiP43007. HS.

Family and domain databases

Gene3Di1.10.3860.10. 2 hits.
InterProiIPR001991. Na-dicarboxylate_symporter.
IPR018107. Na-dicarboxylate_symporter_CS.
[Graphical view]
PANTHERiPTHR11958. PTHR11958. 1 hit.
PfamiPF00375. SDF. 1 hit.
[Graphical view]
PRINTSiPR00173. EDTRNSPORT.
SUPFAMiSSF118215. SSF118215. 2 hits.
PROSITEiPS00713. NA_DICARBOXYL_SYMP_1. 1 hit.
PS00714. NA_DICARBOXYL_SYMP_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSATT_HUMAN
AccessioniPrimary (citable) accession number: P43007
Secondary accession number(s): B7Z3C0, D6W5F0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: November 1, 1995
Last modified: November 2, 2016
This is version 155 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.