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Q495M3

- S36A2_HUMAN

UniProt

Q495M3 - S36A2_HUMAN

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Protein

Proton-coupled amino acid transporter 2

Gene

SLC36A2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Involved in a pH-dependent electrogenic neuronal transport and sequestration of small amino acids. Transports glycine and proline. Inhibited by sarcosine (By similarity).By similarity

GO - Molecular functioni

  1. glycine transmembrane transporter activity Source: UniProtKB
  2. hydrogen:amino acid symporter activity Source: Ensembl
  3. L-alanine transmembrane transporter activity Source: Ensembl
  4. L-proline transmembrane transporter activity Source: Ensembl

GO - Biological processi

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

Keywords - Biological processi

Amino-acid transport, 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.18.8.6. the amino acid/auxin permease (aaap) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Proton-coupled amino acid transporter 2
Short name:
Proton/amino acid transporter 2
Alternative name(s):
Solute carrier family 36 member 2
Tramdorin-1
Gene namesi
Name:SLC36A2
Synonyms:PAT2, TRAMD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:18762. SLC36A2.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
  2. extracellular vesicular exosome Source: UniProt
  3. integral component of membrane Source: UniProtKB-KW
  4. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Hyperglycinuria (HG) [MIM:138500]: A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti87 – 871G → V in HG and IG; partially inactivating mutation; results in a 3-fold increase of Km value for proline and a 5-fold increase of Km for glycine. 1 Publication
Corresponds to variant rs77010315 [ dbSNP | Ensembl ].
VAR_064795
Iminoglycinuria (IG) [MIM:242600]: A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine.1 Publication
Note: The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Mutations in SLC36A2 that retain residual transport activity result in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19. Additional polymorphisms and mutations in SLC6A18 can contribute to iminoglycinuria in some families.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti87 – 871G → V in HG and IG; partially inactivating mutation; results in a 3-fold increase of Km value for proline and a 5-fold increase of Km for glycine. 1 Publication
Corresponds to variant rs77010315 [ dbSNP | Ensembl ].
VAR_064795

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi138500. phenotype.
242600. phenotype.
Orphaneti42062. Iminoglycinuria.
PharmGKBiPA134899820.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 483483Proton-coupled amino acid transporter 2PRO_0000324819Add
BLAST

Proteomic databases

PaxDbiQ495M3.
PRIDEiQ495M3.

PTM databases

PhosphoSiteiQ495M3.

Expressioni

Tissue specificityi

Abundantly expressed in kidney and muscle. Expressed in the S1 segment of the proximal tubule close to the glomerulus.2 Publications

Gene expression databases

BgeeiQ495M3.
CleanExiHS_SLC36A2.
ExpressionAtlasiQ495M3. baseline.
GenevestigatoriQ495M3.

Organism-specific databases

HPAiHPA044002.

Interactioni

Protein-protein interaction databases

IntActiQ495M3. 1 interaction.
STRINGi9606.ENSP00000334223.

Structurei

3D structure databases

ProteinModelPortaliQ495M3.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 5858CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini80 – 812ExtracellularSequence Analysis
Topological domaini103 – 14846CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini170 – 19728ExtracellularSequence AnalysisAdd
BLAST
Topological domaini219 – 2224CytoplasmicSequence Analysis
Topological domaini244 – 26421ExtracellularSequence AnalysisAdd
BLAST
Topological domaini286 – 29611CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini318 – 34932ExtracellularSequence AnalysisAdd
BLAST
Topological domaini371 – 3799CytoplasmicSequence Analysis
Topological domaini401 – 4044ExtracellularSequence Analysis
Topological domaini426 – 43712CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini459 – 48325ExtracellularSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei59 – 7921HelicalSequence AnalysisAdd
BLAST
Transmembranei82 – 10221HelicalSequence AnalysisAdd
BLAST
Transmembranei149 – 16921HelicalSequence AnalysisAdd
BLAST
Transmembranei198 – 21821HelicalSequence AnalysisAdd
BLAST
Transmembranei223 – 24321HelicalSequence AnalysisAdd
BLAST
Transmembranei265 – 28521HelicalSequence AnalysisAdd
BLAST
Transmembranei297 – 31721HelicalSequence AnalysisAdd
BLAST
Transmembranei350 – 37021HelicalSequence AnalysisAdd
BLAST
Transmembranei380 – 40021HelicalSequence AnalysisAdd
BLAST
Transmembranei405 – 42521HelicalSequence AnalysisAdd
BLAST
Transmembranei438 – 45821HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0814.
GeneTreeiENSGT00390000011245.
HOGENOMiHOG000006823.
HOVERGENiHBG057183.
InParanoidiQ495M3.
KOiK14209.
OMAiFYSEGMN.
OrthoDBiEOG73V6KC.
PhylomeDBiQ495M3.
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: Q495M3-1) [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
MSVTKSTEGP QGAVAIKLDL MSPPESAKKL ENKDSTFLDE SPSESAGLKK
60 70 80 90 100
TKGITVFQAL IHLVKGNMGT GILGLPLAVK NAGILMGPLS LLVMGFIACH
110 120 130 140 150
CMHILVKCAQ RFCKRLNKPF MDYGDTVMHG LEANPNAWLQ NHAHWGRHIV
160 170 180 190 200
SFFLIITQLG FCCVYIVFLA DNLKQVVEAV NSTTNNCYSN ETVILTPTMD
210 220 230 240 250
SRLYMLSFLP FLVLLVLIRN LRILTIFSML ANISMLVSLV IIIQYITQEI
260 270 280 290 300
PDPSRLPLVA SWKTYPLFFG TAIFSFESIG VVLPLENKMK NARHFPAILS
310 320 330 340 350
LGMSIVTSLY IGMAALGYLR FGDDIKASIS LNLPNCWLYQ SVKLLYIAGI
360 370 380 390 400
LCTYALQFYV PAEIIIPFAI SRVSTRWALP LDLSIRLVMV CLTCLLAILI
410 420 430 440 450
PRLDLVISLV GSVSGTALAL IIPPLLEVTT FYSEGMSPLT IFKDALISIL
460 470 480
GFVGFVVGTY QALDELLKSE DSHPFSNSTT FVR
Length:483
Mass (Da):53,216
Last modified:September 13, 2005 - v1
Checksum:iE283B8C6F0C63666
GO
Isoform 2 (identifier: Q495M3-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-198: Missing.

Note: No experimental confirmation available.

Show »
Length:285
Mass (Da):31,642
Checksum:iEA3F89C90602A4CE
GO
Isoform 3 (identifier: Q495M3-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-276: Missing.
     277-281: ESIGV → MNDTA

Note: No experimental confirmation available.

Show »
Length:207
Mass (Da):22,680
Checksum:i6320177505ED6D96
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti156 – 1561I → N in AAO11788. (PubMed:12809675)Curated
Sequence conflicti408 – 4081S → P in AAO11788. (PubMed:12809675)Curated
Sequence conflicti410 – 4101V → M in BAC85496. (PubMed:14702039)Curated
Sequence conflicti429 – 4291T → P in BAC85496. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti87 – 871G → V in HG and IG; partially inactivating mutation; results in a 3-fold increase of Km value for proline and a 5-fold increase of Km for glycine. 1 Publication
Corresponds to variant rs77010315 [ dbSNP | Ensembl ].
VAR_064795
Natural varianti445 – 4451A → V.
Corresponds to variant rs10042608 [ dbSNP | Ensembl ].
VAR_039887

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 276276Missing in isoform 3. 1 PublicationVSP_032371Add
BLAST
Alternative sequencei1 – 198198Missing in isoform 2. 1 PublicationVSP_032372Add
BLAST
Alternative sequencei277 – 2815ESIGV → MNDTA in isoform 3. 1 PublicationVSP_032373

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY162214 mRNA. Translation: AAO11788.1.
AK122630 mRNA. Translation: BAC85496.1.
CH471062 Genomic DNA. Translation: EAW61678.1.
BC101100 mRNA. Translation: AAI01101.1.
BC101101 mRNA. Translation: AAI01102.1.
BC101102 mRNA. Translation: AAI01103.1.
BC101103 mRNA. Translation: AAI01104.1.
CCDSiCCDS4315.1. [Q495M3-1]
RefSeqiNP_861441.2. NM_181776.2. [Q495M3-1]
UniGeneiHs.483877.

Genome annotation databases

EnsembliENST00000335244; ENSP00000334223; ENSG00000186335. [Q495M3-1]
GeneIDi153201.
KEGGihsa:153201.
UCSCiuc003lty.3. human. [Q495M3-1]

Polymorphism databases

DMDMi121943282.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY162214 mRNA. Translation: AAO11788.1 .
AK122630 mRNA. Translation: BAC85496.1 .
CH471062 Genomic DNA. Translation: EAW61678.1 .
BC101100 mRNA. Translation: AAI01101.1 .
BC101101 mRNA. Translation: AAI01102.1 .
BC101102 mRNA. Translation: AAI01103.1 .
BC101103 mRNA. Translation: AAI01104.1 .
CCDSi CCDS4315.1. [Q495M3-1 ]
RefSeqi NP_861441.2. NM_181776.2. [Q495M3-1 ]
UniGenei Hs.483877.

3D structure databases

ProteinModelPortali Q495M3.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q495M3. 1 interaction.
STRINGi 9606.ENSP00000334223.

Chemistry

DrugBanki DB00260. Cycloserine.
GuidetoPHARMACOLOGYi 1162.

Protein family/group databases

TCDBi 2.A.18.8.6. the amino acid/auxin permease (aaap) family.

PTM databases

PhosphoSitei Q495M3.

Polymorphism databases

DMDMi 121943282.

Proteomic databases

PaxDbi Q495M3.
PRIDEi Q495M3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000335244 ; ENSP00000334223 ; ENSG00000186335 . [Q495M3-1 ]
GeneIDi 153201.
KEGGi hsa:153201.
UCSCi uc003lty.3. human. [Q495M3-1 ]

Organism-specific databases

CTDi 153201.
GeneCardsi GC05M150674.
HGNCi HGNC:18762. SLC36A2.
HPAi HPA044002.
MIMi 138500. phenotype.
242600. phenotype.
608331. gene.
neXtProti NX_Q495M3.
Orphaneti 42062. Iminoglycinuria.
PharmGKBi PA134899820.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0814.
GeneTreei ENSGT00390000011245.
HOGENOMi HOG000006823.
HOVERGENi HBG057183.
InParanoidi Q495M3.
KOi K14209.
OMAi FYSEGMN.
OrthoDBi EOG73V6KC.
PhylomeDBi Q495M3.
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 SLC36A2. human.
GeneWikii SLC36A2.
GenomeRNAii 153201.
NextBioi 87082.
PROi Q495M3.
SOURCEi Search...

Gene expression databases

Bgeei Q495M3.
CleanExi HS_SLC36A2.
ExpressionAtlasi Q495M3. baseline.
Genevestigatori Q495M3.

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).
    Tissue: Testis.
  2. "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] (ISOFORM 1).
    Tissue: Kidney.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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] (ISOFORMS 1; 2 AND 3).
  5. "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: TISSUE SPECIFICITY.
  6. "Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters."
    Broer S., Bailey C.G., Kowalczuk S., Ng C., Vanslambrouck J.M., Rodgers H., Auray-Blais C., Cavanaugh J.A., Broer A., Rasko J.E.
    J. Clin. Invest. 118:3881-3892(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, TISSUE SPECIFICITY, VARIANT IG VAL-87, VARIANT HG VAL-87, CHARACTERIZATION OF VARIANT HG VAL-87.

Entry informationi

Entry nameiS36A2_HUMAN
AccessioniPrimary (citable) accession number: Q495M3
Secondary accession number(s): Q495M4
, Q495M6, Q6ZWK5, Q7Z6B5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: September 13, 2005
Last modified: October 29, 2014
This is version 83 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