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Protein

Neutral amino acid transporter A

Gene

SLC1A4

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

Functioni

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processSymport, Transport

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000115902.10
HGNCiHGNC:10942 SLC1A4
MIMi600229 gene
neXtProtiNX_P43007

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

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 dbSNP:rs201278558EnsemblClinVar.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 dbSNP:rs761533681EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNETi6509
MalaCardsiSLC1A4
MIMi616657 phenotype
OpenTargetsiENSG00000115902
Orphaneti447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
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...) asparagine1 Publication1
Glycosylationi206N-linked (GlcNAc...) asparagine1 Publication1
Modified residuei507PhosphoserineCombined sources1
Modified residuei527PhosphoserineBy similarity1
Modified residuei530PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP43007
MaxQBiP43007
PaxDbiP43007
PeptideAtlasiP43007
PRIDEiP43007
ProteomicsDBi55572
55573 [P43007-2]

PTM databases

iPTMnetiP43007
PhosphoSitePlusiP43007
SwissPalmiP43007

Miscellaneous databases

PMAP-CutDBiP43007

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000115902 Expressed in 228 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_SLC1A4
GenevisibleiP43007 HS

Organism-specific databases

HPAiHPA034963
HPA034964

Interactioni

Protein-protein interaction databases

BioGridi112400, 5 interactors
IntActiP43007, 1 interactor
STRINGi9606.ENSP00000234256

Structurei

3D structure databases

ProteinModelPortaliP43007
SMRiP43007
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

InterProiView protein in InterPro
IPR001991 Na-dicarboxylate_symporter
IPR018107 Na-dicarboxylate_symporter_CS
IPR036458 Na:dicarbo_symporter_sf
PfamiView protein in Pfam
PF00375 SDF, 1 hit
SUPFAMiSSF118215 SSF118215, 1 hit
PROSITEiView protein in PROSITE
PS00713 NA_DICARBOXYL_SYMP_1, 1 hit
PS00714 NA_DICARBOXYL_SYMP_2, 1 hit

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 dbSNP:rs1064512Ensembl.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 dbSNP:rs201278558EnsemblClinVar.1
Natural variantiVAR_011879399V → I. Corresponds to variant dbSNP:rs759458Ensembl.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 dbSNP:rs761533681EnsemblClinVar.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

Similar proteinsi

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
SMRiP43007
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112400, 5 interactors
IntActiP43007, 1 interactor
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
ProteomicsDBi55572
55573 [P43007-2]

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
EuPathDBiHostDB:ENSG00000115902.10
GeneCardsiSLC1A4
HGNCiHGNC:10942 SLC1A4
HPAiHPA034963
HPA034964
MalaCardsiSLC1A4
MIMi600229 gene
616657 phenotype
neXtProtiNX_P43007
OpenTargetsiENSG00000115902
Orphaneti447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
PharmGKBiPA35829
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-352230 Amino acid transport across the plasma membrane

Miscellaneous databases

ChiTaRSiSLC1A4 human
GeneWikiiSLC1A4
GenomeRNAii6509
PMAP-CutDBiP43007
PROiPR:P43007
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000115902 Expressed in 228 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_SLC1A4
GenevisibleiP43007 HS

Family and domain databases

InterProiView protein in InterPro
IPR001991 Na-dicarboxylate_symporter
IPR018107 Na-dicarboxylate_symporter_CS
IPR036458 Na:dicarbo_symporter_sf
PfamiView protein in Pfam
PF00375 SDF, 1 hit
SUPFAMiSSF118215 SSF118215, 1 hit
PROSITEiView protein in PROSITE
PS00713 NA_DICARBOXYL_SYMP_1, 1 hit
PS00714 NA_DICARBOXYL_SYMP_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSATT_HUMAN
AccessioniPrimary (citable) accession number: P43007
Secondary accession number(s): B7Z3C0, D6W5F0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: November 1, 1995
Last modified: November 7, 2018
This is version 167 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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