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Q9NTN3 (S35D1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 105. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:SLC35D1
Synonyms:KIAA0260, UGTREL7
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length355 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Tissue specificity

Ubiquitous.

Involvement in disease

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. Ref.6

Sequence similarities

Belongs to the TPT transporter family. SLC35D subfamily.

Sequence caution

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 355355UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter
PRO_0000213394

Regions

Transmembrane37 – 5923Helical; Potential
Transmembrane69 – 8820Helical; Potential
Transmembrane158 – 17720Helical; Potential
Transmembrane187 – 20519Helical; Potential
Transmembrane217 – 23923Helical; Potential
Transmembrane254 – 27623Helical; Potential
Transmembrane281 – 30323Helical; Potential
Transmembrane308 – 33023Helical; Potential

Natural variations

Natural variant821A → T.
Corresponds to variant rs10157422 [ dbSNP | Ensembl ].
VAR_042729

Sequences

Sequence LengthMass (Da)Tools
Q9NTN3 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: CAFF15D49605CA27

FASTA35539,240
        10         20         30         40         50         60 
MAEVHRRQHA RVKGEAPAKS STLRDEEELG MASAETLTVF LKLLAAGFYG VSSFLIVVVN 

        70         80         90        100        110        120 
KSVLTNYRFP SSLCVGLGQM VATVAVLWVG KALRVVKFPD LDRNVPRKTF PLPLLYFGNQ 

       130        140        150        160        170        180 
ITGLFSTKKL NLPMFTVLRR FSILFTMFAE GVLLKKTFSW GIKMTVFAMI IGAFVAASSD 

       190        200        210        220        230        240 
LAFDLEGYAF ILINDVLTAA NGAYVKQKLD SKELGKYGLL YYNALFMILP TLAIAYFTGD 

       250        260        270        280        290        300 
AQKAVEFEGW ADTLFLLQFT LSCVMGFILM YATVLCTQYN SALTTTIVGC IKNILITYIG 

       310        320        330        340        350 
MVFGGDYIFT WTNFIGLNIS IAGSLVYSYI TFTEEQLSKQ SEANNKLDIK GKGAV 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_055954.1. NM_015139.2.
UniGeneHs.213642.

3D structure databases

ProteinModelPortalQ9NTN3.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116781. 2 interactions.
STRING9606.ENSP00000235345.

Chemistry

DrugBankDB00186. Lorazepam.

Protein family/group databases

TCDB2.A.7.15.4. the drug/metabolite transporter (dmt) superfamily.

Polymorphism databases

DMDM20140875.

Proteomic databases

PaxDbQ9NTN3.
PRIDEQ9NTN3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000235345; ENSP00000235345; ENSG00000116704.
GeneID23169.
KEGGhsa:23169.
UCSCuc001ddk.2. human.

Organism-specific databases

CTD23169.
GeneCardsGC01M067465.
HGNCHGNC:20800. SLC35D1.
MIM269250. phenotype.
610804. gene.
neXtProtNX_Q9NTN3.
Orphanet3144. Schneckenbecken dysplasia.
PharmGKBPA134978757.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG261892.
HOGENOMHOG000038339.
HOVERGENHBG054071.
InParanoidQ9NTN3.
KOK15281.
OMAQITGLFG.
OrthoDBEOG76DTT0.
PhylomeDBQ9NTN3.
TreeFamTF313307.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ9NTN3.
BgeeQ9NTN3.
CleanExHS_SLC35D1.
GenevestigatorQ9NTN3.

Family and domain databases

InterProIPR004853. Tpt_PEP_trans_dom.
[Graphical view]
PfamPF03151. TPT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSLC35D1. human.
GenomeRNAi23169.
NextBio44571.
PROQ9NTN3.
SOURCESearch...

Entry information

Entry nameS35D1_HUMAN
AccessionPrimary (citable) accession number: Q9NTN3
Secondary accession number(s): A8K185, Q52LU5, Q92548
Entry history
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: October 1, 2000
Last modified: April 16, 2014
This is version 105 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM