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Q9NTN3

- S35D1_HUMAN

UniProt

Q9NTN3 - S35D1_HUMAN

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Protein
UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter
Gene
SLC35D1, KIAA0260, UGTREL7
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei37 – 5923Helical; Reviewed prediction
Add
BLAST
Transmembranei69 – 8820Helical; Reviewed prediction
Add
BLAST
Transmembranei158 – 17720Helical; Reviewed prediction
Add
BLAST
Transmembranei187 – 20519Helical; Reviewed prediction
Add
BLAST
Transmembranei217 – 23923Helical; Reviewed prediction
Add
BLAST
Transmembranei254 – 27623Helical; Reviewed prediction
Add
BLAST
Transmembranei281 – 30323Helical; Reviewed prediction
Add
BLAST
Transmembranei308 – 33023Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

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 transporter
PRO_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.

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 108 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

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