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Q9NTN3

- S35D1_HUMAN

UniProt

Q9NTN3 - S35D1_HUMAN

Protein

UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter

Gene

SLC35D1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    Transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to into the endoplasmic reticulum lumen. May participate in glucuronidation and/or chondroitin sulfate biosynthesis.

    GO - Molecular functioni

    1. UDP-glucuronic acid transmembrane transporter activity Source: Reactome

    GO - Biological processi

    1. carbohydrate transport Source: UniProtKB-KW
    2. cellular glucuronidation Source: Reactome
    3. chondroitin sulfate biosynthetic process Source: Ensembl
    4. embryonic skeletal system development Source: Ensembl
    5. small molecule metabolic process Source: Reactome
    6. transmembrane transport Source: Reactome
    7. UDP-glucuronate biosynthetic process Source: Reactome
    8. UDP-glucuronic acid transport Source: GOC
    9. xenobiotic metabolic process Source: Reactome

    Keywords - Biological processi

    Sugar transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_22151. Transport of nucleotide sugars.
    REACT_6737. Formation of the active cofactor, UDP-glucuronate.

    Protein family/group databases

    TCDBi2.A.7.15.4. the drug/metabolite transporter (dmt) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter
    Short name:
    UDP-GlcA/UDP-GalNAc transporter
    Alternative name(s):
    Solute carrier family 35 member D1
    UDP-galactose transporter-related protein 7
    Short name:
    UGTrel7
    Gene namesi
    Name:SLC35D1
    Synonyms:KIAA0260, UGTREL7
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:20800. SLC35D1.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Reactome
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Schneckenbecken dysplasia (SCHBCKD) [MIM:269250]: Rare, autosomal recessive, lethal short-limbed skeletal dysplasia with platyspondylia.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi269250. phenotype.
    Orphaneti3144. Schneckenbecken dysplasia.
    PharmGKBiPA134978757.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 355355UDP-glucuronic acid/UDP-N-acetylgalactosamine transporterPRO_0000213394Add
    BLAST

    Proteomic databases

    MaxQBiQ9NTN3.
    PaxDbiQ9NTN3.
    PRIDEiQ9NTN3.

    Expressioni

    Tissue specificityi

    Ubiquitous.

    Gene expression databases

    ArrayExpressiQ9NTN3.
    BgeeiQ9NTN3.
    CleanExiHS_SLC35D1.
    GenevestigatoriQ9NTN3.

    Interactioni

    Protein-protein interaction databases

    BioGridi116781. 2 interactions.
    STRINGi9606.ENSP00000235345.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NTN3.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei37 – 5923HelicalSequence AnalysisAdd
    BLAST
    Transmembranei69 – 8820HelicalSequence AnalysisAdd
    BLAST
    Transmembranei158 – 17720HelicalSequence AnalysisAdd
    BLAST
    Transmembranei187 – 20519HelicalSequence AnalysisAdd
    BLAST
    Transmembranei217 – 23923HelicalSequence AnalysisAdd
    BLAST
    Transmembranei254 – 27623HelicalSequence AnalysisAdd
    BLAST
    Transmembranei281 – 30323HelicalSequence AnalysisAdd
    BLAST
    Transmembranei308 – 33023HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG261892.
    HOGENOMiHOG000038339.
    HOVERGENiHBG054071.
    InParanoidiQ9NTN3.
    KOiK15281.
    OMAiQITGLFG.
    OrthoDBiEOG76DTT0.
    PhylomeDBiQ9NTN3.
    TreeFamiTF313307.

    Family and domain databases

    InterProiIPR004853. Tpt_PEP_trans_dom.
    [Graphical view]
    PfamiPF03151. TPT. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9NTN3-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAEVHRRQHA RVKGEAPAKS STLRDEEELG MASAETLTVF LKLLAAGFYG    50
    VSSFLIVVVN KSVLTNYRFP SSLCVGLGQM VATVAVLWVG KALRVVKFPD 100
    LDRNVPRKTF PLPLLYFGNQ ITGLFSTKKL NLPMFTVLRR FSILFTMFAE 150
    GVLLKKTFSW GIKMTVFAMI IGAFVAASSD LAFDLEGYAF ILINDVLTAA 200
    NGAYVKQKLD SKELGKYGLL YYNALFMILP TLAIAYFTGD AQKAVEFEGW 250
    ADTLFLLQFT LSCVMGFILM YATVLCTQYN SALTTTIVGC IKNILITYIG 300
    MVFGGDYIFT WTNFIGLNIS IAGSLVYSYI TFTEEQLSKQ SEANNKLDIK 350
    GKGAV 355
    Length:355
    Mass (Da):39,240
    Last modified:October 1, 2000 - v1
    Checksum:iCAFF15D49605CA27
    GO

    Sequence cautioni

    The sequence BAA13390.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti82 – 821A → T.
    Corresponds to variant rs10157422 [ dbSNP | Ensembl ].
    VAR_042729

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB044343 mRNA. Translation: BAB18586.1.
    D87449 mRNA. Translation: BAA13390.1. Different initiation.
    AK289800 mRNA. Translation: BAF82489.1.
    AL133320 Genomic DNA. Translation: CAB92090.1.
    BC093786 mRNA. Translation: AAH93786.1.
    BC112031 mRNA. Translation: AAI12032.1.
    CCDSiCCDS636.1.
    RefSeqiNP_055954.1. NM_015139.2.
    UniGeneiHs.213642.

    Genome annotation databases

    EnsembliENST00000235345; ENSP00000235345; ENSG00000116704.
    GeneIDi23169.
    KEGGihsa:23169.
    UCSCiuc001ddk.2. human.

    Polymorphism databases

    DMDMi20140875.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB044343 mRNA. Translation: BAB18586.1 .
    D87449 mRNA. Translation: BAA13390.1 . Different initiation.
    AK289800 mRNA. Translation: BAF82489.1 .
    AL133320 Genomic DNA. Translation: CAB92090.1 .
    BC093786 mRNA. Translation: AAH93786.1 .
    BC112031 mRNA. Translation: AAI12032.1 .
    CCDSi CCDS636.1.
    RefSeqi NP_055954.1. NM_015139.2.
    UniGenei Hs.213642.

    3D structure databases

    ProteinModelPortali Q9NTN3.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116781. 2 interactions.
    STRINGi 9606.ENSP00000235345.

    Chemistry

    DrugBanki DB00186. Lorazepam.

    Protein family/group databases

    TCDBi 2.A.7.15.4. the drug/metabolite transporter (dmt) superfamily.

    Polymorphism databases

    DMDMi 20140875.

    Proteomic databases

    MaxQBi Q9NTN3.
    PaxDbi Q9NTN3.
    PRIDEi Q9NTN3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000235345 ; ENSP00000235345 ; ENSG00000116704 .
    GeneIDi 23169.
    KEGGi hsa:23169.
    UCSCi uc001ddk.2. human.

    Organism-specific databases

    CTDi 23169.
    GeneCardsi GC01M067465.
    HGNCi HGNC:20800. SLC35D1.
    MIMi 269250. phenotype.
    610804. gene.
    neXtProti NX_Q9NTN3.
    Orphaneti 3144. Schneckenbecken dysplasia.
    PharmGKBi PA134978757.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG261892.
    HOGENOMi HOG000038339.
    HOVERGENi HBG054071.
    InParanoidi Q9NTN3.
    KOi K15281.
    OMAi QITGLFG.
    OrthoDBi EOG76DTT0.
    PhylomeDBi Q9NTN3.
    TreeFami TF313307.

    Enzyme and pathway databases

    Reactomei REACT_22151. Transport of nucleotide sugars.
    REACT_6737. Formation of the active cofactor, UDP-glucuronate.

    Miscellaneous databases

    ChiTaRSi SLC35D1. human.
    GenomeRNAii 23169.
    NextBioi 44571.
    PROi Q9NTN3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NTN3.
    Bgeei Q9NTN3.
    CleanExi HS_SLC35D1.
    Genevestigatori Q9NTN3.

    Family and domain databases

    InterProi IPR004853. Tpt_PEP_trans_dom.
    [Graphical view ]
    Pfami PF03151. TPT. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular characterization of human UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter, a novel nucleotide sugar transporter with dual substrate specificity."
      Muraoka M., Kawakita M., Ishida N.
      FEBS Lett. 495:87-93(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], CHARACTERIZATION.
      Tissue: Uterus.
    2. "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain."
      Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O., Tanaka A., Kotani H., Miyajima N., Nomura N.
      DNA Res. 3:321-329(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Bone marrow.
    3. "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].
      Tissue: Brain.
    4. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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].
      Tissue: Liver.
    6. "Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human."
      Hiraoka S., Furuichi T., Nishimura G., Shibata S., Yanagishita M., Rimoin D.L., Superti-Furga A., Nikkels P.G., Ogawa M., Katsuyama K., Toyoda H., Kinoshita-Toyoda A., Ishida N., Isono K., Sanai Y., Cohn D.H., Koseki H., Ikegawa S.
      Nat. Med. 13:1363-1367(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SCHBCKD.

    Entry informationi

    Entry nameiS35D1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NTN3
    Secondary accession number(s): A8K185, Q52LU5, Q92548
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 23, 2002
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 109 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 1
      Human chromosome 1: 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