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Protein

UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter

Gene

SLC35D1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Sugar transport, Transport

Enzyme and pathway databases

ReactomeiREACT_22151. Transport of nucleotide sugars.
REACT_267818. Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD).
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 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:20800. SLC35D1.

Subcellular locationi

Topology

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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Schneckenbecken dysplasia (SCHBCKD)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionRare, autosomal recessive, lethal short-limbed skeletal dysplasia with platyspondylia.

See also OMIM:269250

Organism-specific databases

MIMi269250. phenotype.
Orphaneti3144. Schneckenbecken dysplasia.
PharmGKBiPA134978757.

Polymorphism and mutation databases

BioMutaiSLC35D1.
DMDMi20140875.

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

BgeeiQ9NTN3.
CleanExiHS_SLC35D1.
GenevisibleiQ9NTN3. HS.

Interactioni

Protein-protein interaction databases

BioGridi116781. 1 interaction.
STRINGi9606.ENSP00000235345.

Structurei

3D structure databases

ProteinModelPortaliQ9NTN3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG261892.
GeneTreeiENSGT00390000014204.
HOGENOMiHOG000038339.
HOVERGENiHBG054071.
InParanoidiQ9NTN3.
KOiK15281.
OMAiKFSRPVQ.
OrthoDBiEOG76DTT0.
PhylomeDBiQ9NTN3.
TreeFamiTF313307.

Family and domain databases

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NTN3-1) [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
MAEVHRRQHA RVKGEAPAKS STLRDEEELG MASAETLTVF LKLLAAGFYG
60 70 80 90 100
VSSFLIVVVN KSVLTNYRFP SSLCVGLGQM VATVAVLWVG KALRVVKFPD
110 120 130 140 150
LDRNVPRKTF PLPLLYFGNQ ITGLFSTKKL NLPMFTVLRR FSILFTMFAE
160 170 180 190 200
GVLLKKTFSW GIKMTVFAMI IGAFVAASSD LAFDLEGYAF ILINDVLTAA
210 220 230 240 250
NGAYVKQKLD SKELGKYGLL YYNALFMILP TLAIAYFTGD AQKAVEFEGW
260 270 280 290 300
ADTLFLLQFT LSCVMGFILM YATVLCTQYN SALTTTIVGC IKNILITYIG
310 320 330 340 350
MVFGGDYIFT WTNFIGLNIS IAGSLVYSYI TFTEEQLSKQ SEANNKLDIK

GKGAV
Length:355
Mass (Da):39,240
Last modified:October 1, 2000 - v1
Checksum:iCAFF15D49605CA27
GO
Isoform 2 (identifier: Q9NTN3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: Missing.
     321-355: IAGSLVYSYITFTEEQLSKQSEANNKLDIKGKGAV → CICHRGLCELRVGSATLGG

Note: No experimental confirmation available.
Show »
Length:260
Mass (Da):28,816
Checksum:i11489C2DA27E8DFD
GO

Sequence cautioni

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

Natural variant

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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7979Missing in isoform 2. 1 PublicationVSP_056860Add
BLAST
Alternative sequencei321 – 35535IAGSL…GKGAV → CICHRGLCELRVGSATLGG in isoform 2. 1 PublicationVSP_056861Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB044343 mRNA. Translation: BAB18586.1.
D87449 mRNA. Translation: BAA13390.1. Different initiation.
AK289800 mRNA. Translation: BAF82489.1.
AK296449 mRNA. Translation: BAH12358.1.
AL133320 Genomic DNA. Translation: CAB92090.1.
BC093786 mRNA. Translation: AAH93786.1.
BC112031 mRNA. Translation: AAI12032.1.
CCDSiCCDS636.1. [Q9NTN3-1]
RefSeqiNP_055954.1. NM_015139.2. [Q9NTN3-1]
UniGeneiHs.213642.

Genome annotation databases

EnsembliENST00000235345; ENSP00000235345; ENSG00000116704. [Q9NTN3-1]
GeneIDi23169.
KEGGihsa:23169.
UCSCiuc001ddk.2. human. [Q9NTN3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB044343 mRNA. Translation: BAB18586.1.
D87449 mRNA. Translation: BAA13390.1. Different initiation.
AK289800 mRNA. Translation: BAF82489.1.
AK296449 mRNA. Translation: BAH12358.1.
AL133320 Genomic DNA. Translation: CAB92090.1.
BC093786 mRNA. Translation: AAH93786.1.
BC112031 mRNA. Translation: AAI12032.1.
CCDSiCCDS636.1. [Q9NTN3-1]
RefSeqiNP_055954.1. NM_015139.2. [Q9NTN3-1]
UniGeneiHs.213642.

3D structure databases

ProteinModelPortaliQ9NTN3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116781. 1 interaction.
STRINGi9606.ENSP00000235345.

Protein family/group databases

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

Polymorphism and mutation databases

BioMutaiSLC35D1.
DMDMi20140875.

Proteomic databases

MaxQBiQ9NTN3.
PaxDbiQ9NTN3.
PRIDEiQ9NTN3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000235345; ENSP00000235345; ENSG00000116704. [Q9NTN3-1]
GeneIDi23169.
KEGGihsa:23169.
UCSCiuc001ddk.2. human. [Q9NTN3-1]

Organism-specific databases

CTDi23169.
GeneCardsiGC01M067465.
HGNCiHGNC:20800. SLC35D1.
MIMi269250. phenotype.
610804. gene.
neXtProtiNX_Q9NTN3.
Orphaneti3144. Schneckenbecken dysplasia.
PharmGKBiPA134978757.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG261892.
GeneTreeiENSGT00390000014204.
HOGENOMiHOG000038339.
HOVERGENiHBG054071.
InParanoidiQ9NTN3.
KOiK15281.
OMAiKFSRPVQ.
OrthoDBiEOG76DTT0.
PhylomeDBiQ9NTN3.
TreeFamiTF313307.

Enzyme and pathway databases

ReactomeiREACT_22151. Transport of nucleotide sugars.
REACT_267818. Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD).
REACT_6737. Formation of the active cofactor, UDP-glucuronate.

Miscellaneous databases

ChiTaRSiSLC35D1. human.
GenomeRNAii23169.
NextBioi35479339.
PROiQ9NTN3.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NTN3.
CleanExiHS_SLC35D1.
GenevisibleiQ9NTN3. HS.

Family and domain databases

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

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] (ISOFORM 1).
    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] (ISOFORMS 1 AND 2).
    Tissue: Brain and Thalamus.
  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] (ISOFORM 1).
    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
, B7Z3X2, Q52LU5, Q92548
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: October 1, 2000
Last modified: June 24, 2015
This is version 117 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.