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UniProtKB - Q7Z2H8 (S36A1_HUMAN)

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Protein

Proton-coupled amino acid transporter 1

Gene

SLC36A1

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

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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processAmino-acid transport, Symport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-352230 Amino acid transport across the plasma membrane
R-HSA-428559 Proton-coupled neutral amino acid transporters

Protein family/group databases

TCDBi2.A.18.8.7 the amino acid/auxin permease (aaap) family

Names & Taxonomyi

Protein namesi
Recommended name:
Proton-coupled amino acid transporter 1
Short name:
Proton/amino acid transporter 1
Short name:
hPAT1
Alternative name(s):
Solute carrier family 36 member 1
Gene namesi
Name:SLC36A1
Synonyms:PAT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000123643.12
HGNCiHGNC:18761 SLC36A1
MIMi606561 gene
neXtProtiNX_Q7Z2H8

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 – 51CytoplasmicSequence analysisAdd BLAST51
Transmembranei52 – 72Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini73 – 78ExtracellularSequence analysis6
Transmembranei79 – 99Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini100 – 141CytoplasmicSequence analysisAdd BLAST42
Transmembranei142 – 162Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini163 – 190ExtracellularSequence analysisAdd BLAST28
Transmembranei191 – 211Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini212 – 215CytoplasmicSequence analysis4
Transmembranei216 – 236Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini237 – 257ExtracellularSequence analysisAdd BLAST21
Transmembranei258 – 278Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini279 – 289CytoplasmicSequence analysisAdd BLAST11
Transmembranei290 – 310Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini311 – 342ExtracellularSequence analysisAdd BLAST32
Transmembranei343 – 363Helical; Name=8Sequence analysisAdd BLAST21
Topological domaini364 – 372CytoplasmicSequence analysis9
Transmembranei373 – 393Helical; Name=9Sequence analysisAdd BLAST21
Topological domaini394 – 397ExtracellularSequence analysis4
Transmembranei398 – 418Helical; Name=10Sequence analysisAdd BLAST21
Topological domaini419 – 439CytoplasmicSequence analysisAdd BLAST21
Transmembranei440 – 460Helical; Name=11Sequence analysisAdd BLAST21
Topological domaini461 – 476ExtracellularSequence analysisAdd BLAST16

Keywords - Cellular componenti

Cell membrane, Lysosome, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi180C → A or S: Abolishes the transport function. 1 Publication1
Mutagenesisi329C → A or S: Abolishes the transport function. 1 Publication1
Mutagenesisi473C → A or S: No effect. 1 Publication1

Organism-specific databases

DisGeNETi206358
OpenTargetsiENSG00000123643
PharmGKBiPA134870308

Chemistry databases

ChEMBLiCHEMBL1914279
DrugBankiDB00659 Acamprosate
DB02853 D-Proline
DB06554 Gaboxadol
DB00145 Glycine
DB08847 Hydroxyproline
DB00160 L-Alanine
DB08835 Spaglumic Acid
DB01080 Vigabatrin
GuidetoPHARMACOLOGYi1161

Polymorphism and mutation databases

BioMutaiSLC36A1
DMDMi51316800

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000938251 – 476Proton-coupled amino acid transporter 1Add BLAST476

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi174N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi180 ↔ 3291 Publication
Glycosylationi183N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi470N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ7Z2H8
MaxQBiQ7Z2H8
PaxDbiQ7Z2H8
PeptideAtlasiQ7Z2H8
PRIDEiQ7Z2H8
ProteomicsDBi68959
TopDownProteomicsiQ7Z2H8-1 [Q7Z2H8-1]

PTM databases

iPTMnetiQ7Z2H8
PhosphoSitePlusiQ7Z2H8

Expressioni

Gene expression databases

BgeeiENSG00000123643
CleanExiHS_SLC36A1
ExpressionAtlasiQ7Z2H8 baseline and differential
GenevisibleiQ7Z2H8 HS

Organism-specific databases

HPAiHPA035937

Interactioni

Protein-protein interaction databases

BioGridi128503, 3 interactors
IntActiQ7Z2H8, 8 interactors
STRINGi9606.ENSP00000243389

Chemistry databases

BindingDBiQ7Z2H8

Structurei

3D structure databases

ProteinModelPortaliQ7Z2H8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the amino acid/polyamine transporter 2 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1304 Eukaryota
COG0814 LUCA
GeneTreeiENSGT00390000011245
HOGENOMiHOG000171648
HOVERGENiHBG057183
InParanoidiQ7Z2H8
KOiK14209
OMAiPAYLHYK
OrthoDBiEOG091G079T
PhylomeDBiQ7Z2H8
TreeFamiTF314873

Family and domain databases

InterProiView protein in InterPro
IPR013057 AA_transpt_TM
PfamiView protein in Pfam
PF01490 Aa_trans, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7Z2H8-1) [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
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
Length:476
Mass (Da):53,076
Last modified:October 1, 2003 - v1
Checksum:i628AE7FC7A6559F0
GO
Isoform 2 (identifier: Q7Z2H8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     387-476: Missing.

Show »
Length:386
Mass (Da):43,487
Checksum:i3591BF6A356FD808
GO
Isoform 3 (identifier: Q7Z2H8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     242-243: RI → IL
     244-476: Missing.

Show »
Length:243
Mass (Da):27,278
Checksum:i602053121F38BE5D
GO

Sequence cautioni

The sequence BAB71435 differs from that shown. Aberrant splicing.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti72V → A in BAB71435 (PubMed:14702039).Curated1
Sequence conflicti394P → L in AAP47194 (PubMed:12527723).Curated1
Sequence conflicti446V → G in AAP47194 (PubMed:12527723).Curated1
Sequence conflicti449 – 450VV → GG in AAP47194 (PubMed:12527723).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048122362F → L. Corresponds to variant dbSNP:rs9687945Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_044390242 – 243RI → IL in isoform 3. 1 Publication2
Alternative sequenceiVSP_044391244 – 476Missing in isoform 3. 1 PublicationAdd BLAST233
Alternative sequenceiVSP_044392387 – 476Missing in isoform 2. 1 PublicationAdd BLAST90

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY162213 mRNA Translation: AAO11787.1
AF516142 mRNA Translation: AAP47194.1
AY227111 mRNA Translation: AAO37091.1
AY227112 mRNA Translation: AAO37092.1
AY227113 mRNA Translation: AAO37093.1
BX537963 mRNA Translation: CAD97927.1
AC034205 Genomic DNA No translation available.
BC136437 mRNA Translation: AAI36438.1
BC136438 mRNA Translation: AAI36439.1
AK057340 mRNA Translation: BAB71435.1 Sequence problems.
BK001052 mRNA Translation: DAA01126.1
CCDSiCCDS4316.1 [Q7Z2H8-1]
CCDS78073.1 [Q7Z2H8-4]
CCDS83035.1 [Q7Z2H8-3]
RefSeqiNP_001295079.1, NM_001308150.1 [Q7Z2H8-3]
NP_001295080.1, NM_001308151.1 [Q7Z2H8-4]
NP_510968.2, NM_078483.3 [Q7Z2H8-1]
XP_005268443.1, XM_005268386.1 [Q7Z2H8-1]
XP_011535883.1, XM_011537581.1 [Q7Z2H8-1]
XP_011535885.1, XM_011537583.2 [Q7Z2H8-1]
XP_011535886.1, XM_011537584.2 [Q7Z2H8-1]
XP_011535887.1, XM_011537585.1 [Q7Z2H8-1]
XP_011535888.1, XM_011537586.2 [Q7Z2H8-1]
XP_011535889.1, XM_011537587.2 [Q7Z2H8-1]
XP_011535890.1, XM_011537588.2 [Q7Z2H8-1]
XP_011535891.1, XM_011537589.2 [Q7Z2H8-1]
XP_011535892.1, XM_011537590.1 [Q7Z2H8-1]
XP_011535893.1, XM_011537591.1 [Q7Z2H8-1]
XP_011535894.1, XM_011537592.2 [Q7Z2H8-1]
XP_016864705.1, XM_017009216.1 [Q7Z2H8-1]
XP_016864709.1, XM_017009220.1 [Q7Z2H8-4]
UniGeneiHs.269004

Genome annotation databases

EnsembliENST00000243389; ENSP00000243389; ENSG00000123643 [Q7Z2H8-1]
ENST00000429484; ENSP00000395640; ENSG00000123643 [Q7Z2H8-4]
ENST00000520701; ENSP00000428140; ENSG00000123643 [Q7Z2H8-1]
ENST00000616007; ENSP00000480948; ENSG00000123643 [Q7Z2H8-3]
GeneIDi206358
KEGGihsa:206358
UCSCiuc003luc.4 human [Q7Z2H8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiS36A1_HUMAN
AccessioniPrimary (citable) accession number: Q7Z2H8
Secondary accession number(s): C9JI34
, Q1LZ56, Q7Z7C0, Q86YK4, Q96M74
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: October 1, 2003
Last modified: July 18, 2018
This is version 137 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. Human chromosome 5
    Human chromosome 5: 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

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