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Q7Z2H8

- S36A1_HUMAN

UniProt

Q7Z2H8 - S36A1_HUMAN

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Protein
Proton-coupled amino acid transporter 1
Gene
SLC36A1, PAT1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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 recognize their D-enantiomers and selected amino acid derivatives such as gamma-aminobutyric acid By similarity.1 Publication

GO - Molecular functioni

  1. L-alanine transmembrane transporter activity Source: Ensembl
  2. L-proline transmembrane transporter activity Source: Ensembl
  3. glycine transmembrane transporter activity Source: Ensembl
  4. hydrogen ion transmembrane transporter activity Source: Ensembl
  5. symporter activity Source: UniProtKB-KW

GO - Biological processi

  1. amino acid transport Source: Reactome
  2. ion transport Source: Reactome
  3. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Amino-acid transport, Symport, Transport

Enzyme and pathway databases

ReactomeiREACT_13796. Amino acid transport across the plasma membrane.
REACT_19348. 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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:18761. SLC36A1.

Subcellular locationi

Cell membrane; Multi-pass membrane protein By similarity. Lysosome membrane; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 5151Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei52 – 7221Helical; Name=1; Reviewed prediction
Add
BLAST
Topological domaini73 – 786Extracellular Reviewed prediction
Transmembranei79 – 9921Helical; Name=2; Reviewed prediction
Add
BLAST
Topological domaini100 – 14142Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei142 – 16221Helical; Name=3; Reviewed prediction
Add
BLAST
Topological domaini163 – 19028Extracellular Reviewed prediction
Add
BLAST
Transmembranei191 – 21121Helical; Name=4; Reviewed prediction
Add
BLAST
Topological domaini212 – 2154Cytoplasmic Reviewed prediction
Transmembranei216 – 23621Helical; Name=5; Reviewed prediction
Add
BLAST
Topological domaini237 – 25721Extracellular Reviewed prediction
Add
BLAST
Transmembranei258 – 27821Helical; Name=6; Reviewed prediction
Add
BLAST
Topological domaini279 – 28911Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei290 – 31021Helical; Name=7; Reviewed prediction
Add
BLAST
Topological domaini311 – 34232Extracellular Reviewed prediction
Add
BLAST
Transmembranei343 – 36321Helical; Name=8; Reviewed prediction
Add
BLAST
Topological domaini364 – 3729Cytoplasmic Reviewed prediction
Transmembranei373 – 39321Helical; Name=9; Reviewed prediction
Add
BLAST
Topological domaini394 – 3974Extracellular Reviewed prediction
Transmembranei398 – 41821Helical; Name=10; Reviewed prediction
Add
BLAST
Topological domaini419 – 43921Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei440 – 46021Helical; Name=11; Reviewed prediction
Add
BLAST
Topological domaini461 – 47616Extracellular Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: LIFEdb
  2. integral component of membrane Source: UniProtKB-KW
  3. lysosomal membrane Source: UniProtKB
  4. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Lysosome, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi180 – 1801C → A or S: Abolishes the transport function. 1 Publication
Mutagenesisi329 – 3291C → A or S: Abolishes the transport function. 1 Publication
Mutagenesisi473 – 4731C → A or S: No effect. 1 Publication

Organism-specific databases

PharmGKBiPA134870308.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 476476Proton-coupled amino acid transporter 1
PRO_0000093825Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi174 – 1741N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi180 ↔ 3291 Publication
Glycosylationi183 – 1831N-linked (GlcNAc...) Reviewed prediction
Glycosylationi470 – 4701N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ7Z2H8.
PaxDbiQ7Z2H8.
PRIDEiQ7Z2H8.

PTM databases

PhosphoSiteiQ7Z2H8.

Expressioni

Gene expression databases

ArrayExpressiQ7Z2H8.
BgeeiQ7Z2H8.
CleanExiHS_SLC36A1.
GenevestigatoriQ7Z2H8.

Organism-specific databases

HPAiHPA035937.

Interactioni

Protein-protein interaction databases

MINTiMINT-4722054.
STRINGi9606.ENSP00000243389.

Structurei

3D structure databases

ProteinModelPortaliQ7Z2H8.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0814.
HOVERGENiHBG057183.
InParanoidiQ7Z2H8.
KOiK14209.
OMAiQFIVQGI.
PhylomeDBiQ7Z2H8.
TreeFamiTF314873.

Family and domain databases

InterProiIPR013057. AA_transpt_TM.
[Graphical view]
PfamiPF01490. Aa_trans. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

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

MSTQRLRNED YHDYSSTDVS PEESPSEGLN NLSSPGSYQR FGQSNSTTWF    50
QTLIHLLKGN IGTGLLGLPL AVKNAGIVMG PISLLIIGIV AVHCMGILVK 100
CAHHFCRRLN KSFVDYGDTV MYGLESSPCS WLRNHAHWGR RVVDFFLIVT 150
QLGFCCVYFV FLADNFKQVI EAANGTTNNC HNNETVILTP TMDSRLYMLS 200
FLPFLVLLVF IRNLRALSIF SLLANITMLV SLVMIYQFIV QRIPDPSHLP 250
LVAPWKTYPL FFGTAIFSFE GIGMVLPLEN KMKDPRKFPL ILYLGMVIVT 300
ILYISLGCLG YLQFGANIQG SITLNLPNCW LYQSVKLLYS IGIFFTYALQ 350
FYVPAEIIIP FFVSRAPEHC ELVVDLFVRT VLVCLTCILA ILIPRLDLVI 400
SLVGSVSSSA LALIIPPLLE VTTFYSEGMS PLTIFKDALI SILGFVGFVV 450
GTYEALYELI QPSNAPIFIN STCAFI 476
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 BAB71435.1 differs from that shown. Reason: Aberrant splicing.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti362 – 3621F → L.
Corresponds to variant rs9687945 [ dbSNP | Ensembl ].
VAR_048122

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei242 – 2432RI → IL in isoform 3.
VSP_044390
Alternative sequencei244 – 476233Missing in isoform 3.
VSP_044391Add
BLAST
Alternative sequencei387 – 47690Missing in isoform 2.
VSP_044392Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti72 – 721V → A in BAB71435. 1 Publication
Sequence conflicti394 – 3941P → L in AAP47194. 1 Publication
Sequence conflicti446 – 4461V → G in AAP47194. 1 Publication
Sequence conflicti449 – 4502VV → GG in AAP47194. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
RefSeqiNP_510968.2. NM_078483.2. [Q7Z2H8-1]
XP_005268443.1. XM_005268386.1. [Q7Z2H8-1]
XP_006714823.1. XM_006714760.1. [Q7Z2H8-3]
UniGeneiHs.269004.

Genome annotation databases

EnsembliENST00000243389; ENSP00000243389; ENSG00000123643. [Q7Z2H8-1]
ENST00000429484; ENSP00000395640; ENSG00000123643. [Q7Z2H8-4]
ENST00000520701; ENSP00000428140; ENSG00000123643. [Q7Z2H8-1]
GeneIDi206358.
KEGGihsa:206358.
UCSCiuc003lub.1. human. [Q7Z2H8-1]

Polymorphism databases

DMDMi51316800.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS4316.1. [Q7Z2H8-1 ]
RefSeqi NP_510968.2. NM_078483.2. [Q7Z2H8-1 ]
XP_005268443.1. XM_005268386.1. [Q7Z2H8-1 ]
XP_006714823.1. XM_006714760.1. [Q7Z2H8-3 ]
UniGenei Hs.269004.

3D structure databases

ProteinModelPortali Q7Z2H8.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

MINTi MINT-4722054.
STRINGi 9606.ENSP00000243389.

Chemistry

BindingDBi Q7Z2H8.
ChEMBLi CHEMBL1914279.
DrugBanki DB00145. Glycine.
DB00160. L-Alanine.
GuidetoPHARMACOLOGYi 1161.

Protein family/group databases

TCDBi 2.A.18.8.7. the amino acid/auxin permease (aaap) family.

PTM databases

PhosphoSitei Q7Z2H8.

Polymorphism databases

DMDMi 51316800.

Proteomic databases

MaxQBi Q7Z2H8.
PaxDbi Q7Z2H8.
PRIDEi Q7Z2H8.

Protocols and materials databases

DNASUi 206358.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000243389 ; ENSP00000243389 ; ENSG00000123643 . [Q7Z2H8-1 ]
ENST00000429484 ; ENSP00000395640 ; ENSG00000123643 . [Q7Z2H8-4 ]
ENST00000520701 ; ENSP00000428140 ; ENSG00000123643 . [Q7Z2H8-1 ]
GeneIDi 206358.
KEGGi hsa:206358.
UCSCi uc003lub.1. human. [Q7Z2H8-1 ]

Organism-specific databases

CTDi 206358.
GeneCardsi GC05P150807.
HGNCi HGNC:18761. SLC36A1.
HPAi HPA035937.
MIMi 606561. gene.
neXtProti NX_Q7Z2H8.
PharmGKBi PA134870308.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0814.
HOVERGENi HBG057183.
InParanoidi Q7Z2H8.
KOi K14209.
OMAi QFIVQGI.
PhylomeDBi Q7Z2H8.
TreeFami TF314873.

Enzyme and pathway databases

Reactomei REACT_13796. Amino acid transport across the plasma membrane.
REACT_19348. Proton-coupled neutral amino acid transporters.

Miscellaneous databases

ChiTaRSi SLC36A1. human.
GeneWikii SLC36A1.
GenomeRNAii 206358.
NextBioi 35486576.
PROi Q7Z2H8.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q7Z2H8.
Bgeei Q7Z2H8.
CleanExi HS_SLC36A1.
Genevestigatori Q7Z2H8.

Family and domain databases

InterProi IPR013057. AA_transpt_TM.
[Graphical view ]
Pfami PF01490. Aa_trans. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A cluster of proton/amino acid transporter genes in the human and mouse genomes."
    Boll M., Foltz M., Rubio-Aliaga I., Daniel H.
    Genomics 82:47-56(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION.
    Tissue: Intestine.
  2. "Structure, function and immunolocalization of a proton-coupled amino acid transporter (hPAT1) in the human intestinal cell line Caco-2."
    Chen Z., Fei Y.-J., Anderson C.M.H., Wake K.A., Miyauchi S., Huang W., Thwaites D.T., Ganapathy V.
    J. Physiol. (Lond.) 546:349-361(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. "Organization and expression of the SLC36 cluster of amino acid transporter genes."
    Bermingham J.R. Jr., Pennington J.
    Mamm. Genome 15:114-125(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3), NUCLEOTIDE SEQUENCE [MRNA] OF 164-476 (ISOFORM 1), ALTERNATIVE SPLICING.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Endometrial tumor.
  5. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Testis.
  7. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-356.
    Tissue: Testis.
  8. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    Tissue: Placenta.
  9. "Identification of a disulfide bridge essential for transport function of the human proton-coupled amino acid transporter hPAT1."
    Dorn M., Weiwad M., Markwardt F., Laug L., Rudolph R., Brandsch M., Bosse-Doenecke E.
    J. Biol. Chem. 284:22123-22132(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISULFIDE BOND, TOPOLOGY MODEL, MUTAGENESIS OF CYS-180; CYS-329 AND CYS-473.

Entry informationi

Entry nameiS36A1_HUMAN
AccessioniPrimary (citable) accession number: Q7Z2H8
Secondary accession number(s): C9JI34
, Q1LZ56, Q7Z7C0, Q86YK4, Q96M74
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: October 1, 2003
Last modified: September 3, 2014
This is version 105 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 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

External Data

Dasty 3

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