UniProtKB - Q7Z2H8 (S36A1_HUMAN)
Protein
Proton-coupled amino acid transporter 1
Gene
SLC36A1
Organism
Homo sapiens (Human)
Status
Functioni
Neutral amino acid/proton symporter. Has a pH-dependent electrogenic transport activity for small amino acids such as glycine, alanine and proline. Besides small apolar L-amino acids, it also recognizes their D-enantiomers and selected amino acid derivatives such as gamma-aminobutyric acid (By similarity).By similarity1 Publication
GO - Molecular functioni
- alanine transmembrane transporter activity Source: ARUK-UCL
- amino acid:proton symporter activity Source: GO_Central
- amino acid transmembrane transporter activity Source: GO_Central
- glycine transmembrane transporter activity Source: GO_Central
- L-alanine transmembrane transporter activity Source: GO_Central
- L-proline transmembrane transporter activity Source: GO_Central
- taurine transmembrane transporter activity Source: ARUK-UCL
GO - Biological processi
- alanine transport Source: ARUK-UCL
- amino acid import across plasma membrane Source: ARUK-UCL
- amino acid transmembrane transport Source: GO_Central
- amino acid transport Source: Reactome
- glycine transport Source: GO_Central
- ion transport Source: Reactome
- L-alanine transport Source: GO_Central
- proline transmembrane transport Source: GO_Central
- proton transmembrane transport Source: GO_Central
- taurine transport Source: ARUK-UCL
Keywordsi
Biological process | Amino-acid transport, Symport, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q7Z2H8 |
Reactomei | R-HSA-352230, Amino acid transport across the plasma membrane R-HSA-428559, Proton-coupled neutral amino acid transporters |
Protein family/group databases
TCDBi | 2.A.18.8.7, the amino acid/auxin permease (aaap) family |
Names & Taxonomyi
Protein namesi | Recommended name: Proton-coupled amino acid transporter 1Short name: Proton/amino acid transporter 1 Short name: hPAT1 Alternative name(s): Solute carrier family 36 member 1 |
Gene namesi | Name:SLC36A1 Synonyms:PAT1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000123643.12 |
HGNCi | HGNC:18761, SLC36A1 |
MIMi | 606561, gene |
neXtProti | NX_Q7Z2H8 |
Subcellular locationi
Plasma membrane
- Cell membrane By similarity; Multi-pass membrane protein Sequence analysis
Lysosome
- Lysosome membrane 1 Publication; Multi-pass membrane protein 1 Publication
Note: In neurons, colocalizes with the exocyst complex in the axonal processes.By similarity
Endoplasmic reticulum
- endoplasmic reticulum Source: LIFEdb
Lysosome
- lysosomal membrane Source: UniProtKB
Plasma Membrane
- plasma membrane Source: Reactome
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 51 | CytoplasmicSequence analysisAdd BLAST | 51 | |
Transmembranei | 52 – 72 | Helical; Name=1Sequence analysisAdd BLAST | 21 | |
Topological domaini | 73 – 78 | ExtracellularSequence analysis | 6 | |
Transmembranei | 79 – 99 | Helical; Name=2Sequence analysisAdd BLAST | 21 | |
Topological domaini | 100 – 141 | CytoplasmicSequence analysisAdd BLAST | 42 | |
Transmembranei | 142 – 162 | Helical; Name=3Sequence analysisAdd BLAST | 21 | |
Topological domaini | 163 – 190 | ExtracellularSequence analysisAdd BLAST | 28 | |
Transmembranei | 191 – 211 | Helical; Name=4Sequence analysisAdd BLAST | 21 | |
Topological domaini | 212 – 215 | CytoplasmicSequence analysis | 4 | |
Transmembranei | 216 – 236 | Helical; Name=5Sequence analysisAdd BLAST | 21 | |
Topological domaini | 237 – 257 | ExtracellularSequence analysisAdd BLAST | 21 | |
Transmembranei | 258 – 278 | Helical; Name=6Sequence analysisAdd BLAST | 21 | |
Topological domaini | 279 – 289 | CytoplasmicSequence analysisAdd BLAST | 11 | |
Transmembranei | 290 – 310 | Helical; Name=7Sequence analysisAdd BLAST | 21 | |
Topological domaini | 311 – 342 | ExtracellularSequence analysisAdd BLAST | 32 | |
Transmembranei | 343 – 363 | Helical; Name=8Sequence analysisAdd BLAST | 21 | |
Topological domaini | 364 – 372 | CytoplasmicSequence analysis | 9 | |
Transmembranei | 373 – 393 | Helical; Name=9Sequence analysisAdd BLAST | 21 | |
Topological domaini | 394 – 397 | ExtracellularSequence analysis | 4 | |
Transmembranei | 398 – 418 | Helical; Name=10Sequence analysisAdd BLAST | 21 | |
Topological domaini | 419 – 439 | CytoplasmicSequence analysisAdd BLAST | 21 | |
Transmembranei | 440 – 460 | Helical; Name=11Sequence analysisAdd BLAST | 21 | |
Topological domaini | 461 – 476 | ExtracellularSequence analysisAdd BLAST | 16 |
Keywords - Cellular componenti
Cell membrane, Lysosome, MembranePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 180 | C → A or S: Abolishes the transport function. 1 Publication | 1 | |
Mutagenesisi | 329 | C → A or S: Abolishes the transport function. 1 Publication | 1 | |
Mutagenesisi | 473 | C → A or S: No effect. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 206358 |
OpenTargetsi | ENSG00000123643 |
PharmGKBi | PA134870308 |
Miscellaneous databases
Pharosi | Q7Z2H8, Tchem |
Chemistry databases
ChEMBLi | CHEMBL1914279 |
DrugBanki | DB00659, Acamprosate DB00160, Alanine DB02853, D-Proline DB06554, Gaboxadol DB02530, gamma-Aminobutyric acid DB00145, Glycine DB08847, Hydroxyproline DB00563, Methotrexate DB08849, Nipecotic acid DB08835, Spaglumic Acid DB01956, Taurine DB01080, Vigabatrin |
GuidetoPHARMACOLOGYi | 1161 |
Polymorphism and mutation databases
BioMutai | SLC36A1 |
DMDMi | 51316800 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000093825 | 1 – 476 | Proton-coupled amino acid transporter 1Add BLAST | 476 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 174 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 180 ↔ 329 | 1 Publication | ||
Glycosylationi | 183 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 470 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
jPOSTi | Q7Z2H8 |
MassIVEi | Q7Z2H8 |
MaxQBi | Q7Z2H8 |
PaxDbi | Q7Z2H8 |
PeptideAtlasi | Q7Z2H8 |
PRIDEi | Q7Z2H8 |
ProteomicsDBi | 10285 68959 [Q7Z2H8-1] |
TopDownProteomicsi | Q7Z2H8-1 [Q7Z2H8-1] |
PTM databases
GlyGeni | Q7Z2H8, 3 sites |
iPTMneti | Q7Z2H8 |
PhosphoSitePlusi | Q7Z2H8 |
Expressioni
Gene expression databases
Bgeei | ENSG00000123643, Expressed in colon and 221 other tissues |
ExpressionAtlasi | Q7Z2H8, baseline and differential |
Genevisiblei | Q7Z2H8, HS |
Organism-specific databases
HPAi | ENSG00000123643, Tissue enhanced (brain) |
Interactioni
Binary interactionsi
Q7Z2H8
With | #Exp. | IntAct |
---|---|---|
TUSC5 [A5PKU2] | 3 | EBI-9978258,EBI-11988865 |
Protein-protein interaction databases
BioGRIDi | 128503, 4 interactors |
IntActi | Q7Z2H8, 9 interactors |
STRINGi | 9606.ENSP00000243389 |
Chemistry databases
BindingDBi | Q7Z2H8 |
Miscellaneous databases
RNActi | Q7Z2H8, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the amino acid/polyamine transporter 2 family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1304, Eukaryota |
GeneTreei | ENSGT00940000156583 |
HOGENOMi | CLU_009646_0_2_1 |
InParanoidi | Q7Z2H8 |
OMAi | ALCYATF |
OrthoDBi | 464614at2759 |
PhylomeDBi | Q7Z2H8 |
TreeFami | TF314873 |
Family and domain databases
InterProi | View protein in InterPro IPR013057, AA_transpt_TM |
Pfami | View protein in Pfam PF01490, Aa_trans, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q7Z2H8-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSTQRLRNED YHDYSSTDVS PEESPSEGLN NLSSPGSYQR FGQSNSTTWF
60 70 80 90 100
QTLIHLLKGN IGTGLLGLPL AVKNAGIVMG PISLLIIGIV AVHCMGILVK
110 120 130 140 150
CAHHFCRRLN KSFVDYGDTV MYGLESSPCS WLRNHAHWGR RVVDFFLIVT
160 170 180 190 200
QLGFCCVYFV FLADNFKQVI EAANGTTNNC HNNETVILTP TMDSRLYMLS
210 220 230 240 250
FLPFLVLLVF IRNLRALSIF SLLANITMLV SLVMIYQFIV QRIPDPSHLP
260 270 280 290 300
LVAPWKTYPL FFGTAIFSFE GIGMVLPLEN KMKDPRKFPL ILYLGMVIVT
310 320 330 340 350
ILYISLGCLG YLQFGANIQG SITLNLPNCW LYQSVKLLYS IGIFFTYALQ
360 370 380 390 400
FYVPAEIIIP FFVSRAPEHC ELVVDLFVRT VLVCLTCILA ILIPRLDLVI
410 420 430 440 450
SLVGSVSSSA LALIIPPLLE VTTFYSEGMS PLTIFKDALI SILGFVGFVV
460 470
GTYEALYELI QPSNAPIFIN STCAFI
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE5RHG5 | E5RHG5_HUMAN | Proton-coupled amino acid transport... | SLC36A1 | 99 | Annotation score: | ||
E7EW39 | E7EW39_HUMAN | Proton-coupled amino acid transport... | SLC36A1 | 388 | Annotation score: | ||
H0YB60 | H0YB60_HUMAN | Proton-coupled amino acid transport... | SLC36A1 | 145 | Annotation score: | ||
H0YBS2 | H0YBS2_HUMAN | Proton-coupled amino acid transport... | SLC36A1 | 89 | Annotation score: | ||
E5RI40 | E5RI40_HUMAN | Proton-coupled amino acid transport... | SLC36A1 | 71 | Annotation score: | ||
E5RG64 | E5RG64_HUMAN | Proton-coupled amino acid transport... | SLC36A1 | 70 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 72 | V → A in BAB71435 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 394 | P → L in AAP47194 (PubMed:12527723).Curated | 1 | |
Sequence conflicti | 446 | V → G in AAP47194 (PubMed:12527723).Curated | 1 | |
Sequence conflicti | 449 – 450 | VV → GG in AAP47194 (PubMed:12527723).Curated | 2 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_048122 | 362 | F → L. Corresponds to variant dbSNP:rs9687945EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_044390 | 242 – 243 | RI → IL in isoform 3. 1 Publication | 2 | |
Alternative sequenceiVSP_044391 | 244 – 476 | Missing in isoform 3. 1 PublicationAdd BLAST | 233 | |
Alternative sequenceiVSP_044392 | 387 – 476 | Missing in isoform 2. 1 PublicationAdd BLAST | 90 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000243389; ENSP00000243389; ENSG00000123643 [Q7Z2H8-1] ENST00000429484; ENSP00000395640; ENSG00000123643 [Q7Z2H8-4] ENST00000520701; ENSP00000428140; ENSG00000123643 [Q7Z2H8-1] ENST00000616007; ENSP00000480948; ENSG00000123643 [Q7Z2H8-3] |
GeneIDi | 206358 |
KEGGi | hsa:206358 |
UCSCi | uc003luc.4, human [Q7Z2H8-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 128503, 4 interactors |
IntActi | Q7Z2H8, 9 interactors |
STRINGi | 9606.ENSP00000243389 |
Chemistry databases
BindingDBi | Q7Z2H8 |
ChEMBLi | CHEMBL1914279 |
DrugBanki | DB00659, Acamprosate DB00160, Alanine DB02853, D-Proline DB06554, Gaboxadol DB02530, gamma-Aminobutyric acid DB00145, Glycine DB08847, Hydroxyproline DB00563, Methotrexate DB08849, Nipecotic acid DB08835, Spaglumic Acid DB01956, Taurine DB01080, Vigabatrin |
GuidetoPHARMACOLOGYi | 1161 |
Protein family/group databases
TCDBi | 2.A.18.8.7, the amino acid/auxin permease (aaap) family |
PTM databases
GlyGeni | Q7Z2H8, 3 sites |
iPTMneti | Q7Z2H8 |
PhosphoSitePlusi | Q7Z2H8 |
Polymorphism and mutation databases
BioMutai | SLC36A1 |
DMDMi | 51316800 |
Proteomic databases
jPOSTi | Q7Z2H8 |
MassIVEi | Q7Z2H8 |
MaxQBi | Q7Z2H8 |
PaxDbi | Q7Z2H8 |
PeptideAtlasi | Q7Z2H8 |
PRIDEi | Q7Z2H8 |
ProteomicsDBi | 10285 68959 [Q7Z2H8-1] |
TopDownProteomicsi | Q7Z2H8-1 [Q7Z2H8-1] |
Protocols and materials databases
Antibodypediai | 49166, 78 antibodies |
DNASUi | 206358 |
Genome annotation databases
Ensembli | ENST00000243389; ENSP00000243389; ENSG00000123643 [Q7Z2H8-1] ENST00000429484; ENSP00000395640; ENSG00000123643 [Q7Z2H8-4] ENST00000520701; ENSP00000428140; ENSG00000123643 [Q7Z2H8-1] ENST00000616007; ENSP00000480948; ENSG00000123643 [Q7Z2H8-3] |
GeneIDi | 206358 |
KEGGi | hsa:206358 |
UCSCi | uc003luc.4, human [Q7Z2H8-1] |
Organism-specific databases
CTDi | 206358 |
DisGeNETi | 206358 |
EuPathDBi | HostDB:ENSG00000123643.12 |
GeneCardsi | SLC36A1 |
HGNCi | HGNC:18761, SLC36A1 |
HPAi | ENSG00000123643, Tissue enhanced (brain) |
MIMi | 606561, gene |
neXtProti | NX_Q7Z2H8 |
OpenTargetsi | ENSG00000123643 |
PharmGKBi | PA134870308 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1304, Eukaryota |
GeneTreei | ENSGT00940000156583 |
HOGENOMi | CLU_009646_0_2_1 |
InParanoidi | Q7Z2H8 |
OMAi | ALCYATF |
OrthoDBi | 464614at2759 |
PhylomeDBi | Q7Z2H8 |
TreeFami | TF314873 |
Enzyme and pathway databases
PathwayCommonsi | Q7Z2H8 |
Reactomei | R-HSA-352230, Amino acid transport across the plasma membrane R-HSA-428559, Proton-coupled neutral amino acid transporters |
Miscellaneous databases
BioGRID-ORCSi | 206358, 4 hits in 840 CRISPR screens |
ChiTaRSi | SLC36A1, human |
GeneWikii | SLC36A1 |
GenomeRNAii | 206358 |
Pharosi | Q7Z2H8, Tchem |
PROi | PR:Q7Z2H8 |
RNActi | Q7Z2H8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000123643, Expressed in colon and 221 other tissues |
ExpressionAtlasi | Q7Z2H8, baseline and differential |
Genevisiblei | Q7Z2H8, HS |
Family and domain databases
InterProi | View protein in InterPro IPR013057, AA_transpt_TM |
Pfami | View protein in Pfam PF01490, Aa_trans, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | S36A1_HUMAN | |
Accessioni | Q7Z2H8Primary (citable) accession number: Q7Z2H8 Secondary accession number(s): C9JI34 Q96M74 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 16, 2004 |
Last sequence update: | October 1, 2003 | |
Last modified: | December 2, 2020 | |
This is version 155 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations