Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q495M3

- S36A2_HUMAN

UniProt

Q495M3 - S36A2_HUMAN

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
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 82 (01 Oct 2014)
      Sequence version 1 (13 Sep 2005)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    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-SubCell
    2. extracellular vesicular exosome Source: UniProt
    3. integral component of membrane Source: UniProtKB-KW
    4. plasma membrane Source: Reactome

    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.
    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.
    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

    MSVTKSTEGP QGAVAIKLDL MSPPESAKKL ENKDSTFLDE SPSESAGLKK    50
    TKGITVFQAL IHLVKGNMGT GILGLPLAVK NAGILMGPLS LLVMGFIACH 100
    CMHILVKCAQ RFCKRLNKPF MDYGDTVMHG LEANPNAWLQ NHAHWGRHIV 150
    SFFLIITQLG FCCVYIVFLA DNLKQVVEAV NSTTNNCYSN ETVILTPTMD 200
    SRLYMLSFLP FLVLLVLIRN LRILTIFSML ANISMLVSLV IIIQYITQEI 250
    PDPSRLPLVA SWKTYPLFFG TAIFSFESIG VVLPLENKMK NARHFPAILS 300
    LGMSIVTSLY IGMAALGYLR FGDDIKASIS LNLPNCWLYQ SVKLLYIAGI 350
    LCTYALQFYV PAEIIIPFAI SRVSTRWALP LDLSIRLVMV CLTCLLAILI 400
    PRLDLVISLV GSVSGTALAL IIPPLLEVTT FYSEGMSPLT IFKDALISIL 450
    GFVGFVVGTY QALDELLKSE DSHPFSNSTT FVR 483
    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.
    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.
    Genevestigatori Q495M3.

    Family and domain databases

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

    Publicationsi

    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 1, 2014
    This is version 82 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