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Q7Z2H8 (S36A1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 104. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:SLC36A1
Synonyms:PAT1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length476 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.1

Subcellular location

Cell membrane; Multi-pass membrane protein By similarity. Lysosome membrane; Multi-pass membrane protein Ref.8.

Sequence similarities

Belongs to the amino acid/polyamine transporter 2 family.

Sequence caution

The sequence BAB71435.1 differs from that shown. Reason: Aberrant splicing.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z2H8-1)

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.
Isoform 2 (identifier: Q7Z2H8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     387-476: Missing.
Isoform 3 (identifier: Q7Z2H8-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 476476Proton-coupled amino acid transporter 1
PRO_0000093825

Regions

Topological domain1 – 5151Cytoplasmic Potential
Transmembrane52 – 7221Helical; Name=1; Potential
Topological domain73 – 786Extracellular Potential
Transmembrane79 – 9921Helical; Name=2; Potential
Topological domain100 – 14142Cytoplasmic Potential
Transmembrane142 – 16221Helical; Name=3; Potential
Topological domain163 – 19028Extracellular Potential
Transmembrane191 – 21121Helical; Name=4; Potential
Topological domain212 – 2154Cytoplasmic Potential
Transmembrane216 – 23621Helical; Name=5; Potential
Topological domain237 – 25721Extracellular Potential
Transmembrane258 – 27821Helical; Name=6; Potential
Topological domain279 – 28911Cytoplasmic Potential
Transmembrane290 – 31021Helical; Name=7; Potential
Topological domain311 – 34232Extracellular Potential
Transmembrane343 – 36321Helical; Name=8; Potential
Topological domain364 – 3729Cytoplasmic Potential
Transmembrane373 – 39321Helical; Name=9; Potential
Topological domain394 – 3974Extracellular Potential
Transmembrane398 – 41821Helical; Name=10; Potential
Topological domain419 – 43921Cytoplasmic Potential
Transmembrane440 – 46021Helical; Name=11; Potential
Topological domain461 – 47616Extracellular Potential

Amino acid modifications

Glycosylation1741N-linked (GlcNAc...) Potential
Glycosylation1831N-linked (GlcNAc...) Potential
Glycosylation4701N-linked (GlcNAc...) Potential
Disulfide bond180 ↔ 329 Ref.9

Natural variations

Alternative sequence242 – 2432RI → IL in isoform 3.
VSP_044390
Alternative sequence244 – 476233Missing in isoform 3.
VSP_044391
Alternative sequence387 – 47690Missing in isoform 2.
VSP_044392
Natural variant3621F → L.
Corresponds to variant rs9687945 [ dbSNP | Ensembl ].
VAR_048122

Experimental info

Mutagenesis1801C → A or S: Abolishes the transport function. Ref.9
Mutagenesis3291C → A or S: Abolishes the transport function. Ref.9
Mutagenesis4731C → A or S: No effect. Ref.9
Sequence conflict721V → A in BAB71435. Ref.7
Sequence conflict3941P → L in AAP47194. Ref.2
Sequence conflict4461V → G in AAP47194. Ref.2
Sequence conflict449 – 4502VV → GG in AAP47194. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2003. Version 1.
Checksum: 628AE7FC7A6559F0

FASTA47653,076
        10         20         30         40         50         60 
MSTQRLRNED YHDYSSTDVS PEESPSEGLN NLSSPGSYQR FGQSNSTTWF QTLIHLLKGN 

        70         80         90        100        110        120 
IGTGLLGLPL AVKNAGIVMG PISLLIIGIV AVHCMGILVK CAHHFCRRLN KSFVDYGDTV 

       130        140        150        160        170        180 
MYGLESSPCS WLRNHAHWGR RVVDFFLIVT QLGFCCVYFV FLADNFKQVI EAANGTTNNC 

       190        200        210        220        230        240 
HNNETVILTP TMDSRLYMLS FLPFLVLLVF IRNLRALSIF SLLANITMLV SLVMIYQFIV 

       250        260        270        280        290        300 
QRIPDPSHLP LVAPWKTYPL FFGTAIFSFE GIGMVLPLEN KMKDPRKFPL ILYLGMVIVT 

       310        320        330        340        350        360 
ILYISLGCLG YLQFGANIQG SITLNLPNCW LYQSVKLLYS IGIFFTYALQ FYVPAEIIIP 

       370        380        390        400        410        420 
FFVSRAPEHC ELVVDLFVRT VLVCLTCILA ILIPRLDLVI SLVGSVSSSA LALIIPPLLE 

       430        440        450        460        470 
VTTFYSEGMS PLTIFKDALI SILGFVGFVV GTYEALYELI QPSNAPIFIN STCAFI 

« Hide

Isoform 2 [UniParc].

Checksum: 3591BF6A356FD808
Show »

FASTA38643,487
Isoform 3 [UniParc].

Checksum: 602053121F38BE5D
Show »

FASTA24327,278

References

« Hide 'large scale' references
[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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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]"Integral and associated lysosomal membrane proteins."
Schroeder B., Wrocklage C., Pan C., Jaeger R., Koesters B., Schaefer H., Elsaesser H.-P., Mann M., Hasilik A.
Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS4316.1. [Q7Z2H8-1]
RefSeqNP_510968.2. NM_078483.2. [Q7Z2H8-1]
XP_005268443.1. XM_005268386.1. [Q7Z2H8-1]
XP_006714823.1. XM_006714760.1. [Q7Z2H8-3]
UniGeneHs.269004.

3D structure databases

ProteinModelPortalQ7Z2H8.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

MINTMINT-4722054.
STRING9606.ENSP00000243389.

Chemistry

BindingDBQ7Z2H8.
ChEMBLCHEMBL1914279.
DrugBankDB00145. Glycine.
DB00160. L-Alanine.
GuidetoPHARMACOLOGY1161.

Protein family/group databases

TCDB2.A.18.8.7. the amino acid/auxin permease (aaap) family.

PTM databases

PhosphoSiteQ7Z2H8.

Polymorphism databases

DMDM51316800.

Proteomic databases

MaxQBQ7Z2H8.
PaxDbQ7Z2H8.
PRIDEQ7Z2H8.

Protocols and materials databases

DNASU206358.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000243389; ENSP00000243389; ENSG00000123643. [Q7Z2H8-1]
ENST00000429484; ENSP00000395640; ENSG00000123643. [Q7Z2H8-4]
ENST00000520701; ENSP00000428140; ENSG00000123643. [Q7Z2H8-1]
GeneID206358.
KEGGhsa:206358.
UCSCuc003lub.1. human. [Q7Z2H8-1]

Organism-specific databases

CTD206358.
GeneCardsGC05P150807.
HGNCHGNC:18761. SLC36A1.
HPAHPA035937.
MIM606561. gene.
neXtProtNX_Q7Z2H8.
PharmGKBPA134870308.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0814.
HOVERGENHBG057183.
InParanoidQ7Z2H8.
KOK14209.
OMAQFIVQGI.
PhylomeDBQ7Z2H8.
TreeFamTF314873.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.
REACT_19419. Amino acid and oligopeptide SLC transporters.

Gene expression databases

ArrayExpressQ7Z2H8.
BgeeQ7Z2H8.
CleanExHS_SLC36A1.
GenevestigatorQ7Z2H8.

Family and domain databases

InterProIPR013057. AA_transpt_TM.
[Graphical view]
PfamPF01490. Aa_trans. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSLC36A1. human.
GeneWikiSLC36A1.
GenomeRNAi206358.
NextBio35486576.
PROQ7Z2H8.
SOURCESearch...

Entry information

Entry nameS36A1_HUMAN
AccessionPrimary (citable) accession number: Q7Z2H8
Secondary accession number(s): C9JI34 expand/collapse secondary AC list , Q1LZ56, Q7Z7C0, Q86YK4, Q96M74
Entry history
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: October 1, 2003
Last modified: July 9, 2014
This is version 104 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM