Q9NTN3 (S35D1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	SLC35D1
Synonyms:	KIAA0260, UGTREL7

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	355 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Defects in SLC35D1 are a cause of Schneckenbecken dysplasia (SCHBCKD) [MIM:269250]. Schneckenbecken dysplagia is a rare, autosomal recessive, lethal short-limbed skeletal dysplasia with platyspondylia. 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.

Ontologies

Keywords
Biological process	Sugar transport Transport
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	UDP-glucuronate biosynthetic process Traceable author statement. Source: Reactome chondroitin sulfate biosynthetic process Non-traceable author statement. Source: UniProtKB xenobiotic metabolic process Traceable author statement. Source: Reactome
Cellular component	integral to endoplasmic reticulum membrane Non-traceable author statement. Source: UniProtKB
Molecular function	UDP-N-acetylgalactosamine transmembrane transporter activity Non-traceable author statement. Source: UniProtKB UDP-glucuronic acid transmembrane transporter activity Traceable author statement. Source: Reactome
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 355	355	UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter		PRO_0000213394
Regions
	Transmembrane	37 – 59	23	Helical; Potential
	Transmembrane	69 – 88	20	Helical; Potential
	Transmembrane	158 – 177	20	Helical; Potential
	Transmembrane	187 – 205	19	Helical; Potential
	Transmembrane	217 – 239	23	Helical; Potential
	Transmembrane	254 – 276	23	Helical; Potential
	Transmembrane	281 – 303	23	Helical; Potential
	Transmembrane	308 – 330	23	Helical; Potential
Natural variations
	Natural variant	82	1	A → T. Corresponds to variant rs10157422 [ dbSNP | Ensembl ].		VAR_042729

Sequences

	Sequence		Length	Mass (Da)
	Q9NTN3 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: CAFF15D49605CA27	FASTA	355	39,240
	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

References

	« Hide 'large scale' referencesShow '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: 11322953] [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: 9039502] [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: 14702039] [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: 16710414] [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: 15489334] [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: 17952091] [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.
IPI	IPI00027554.
RefSeq	NP_055954.1. NM_015139.2.
UniGene	Hs.213642.
3D structure databases
ProteinModelPortal	Q9NTN3.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9NTN3.
Protein family/group databases
TCDB	2.A.7.15.4. drug/metabolite transporter (DMT) superfamily.
Polymorphism databases
DMDM	20140875.
Proteomic databases
PRIDE	Q9NTN3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000235345; ENSP00000235345; ENSG00000116704.
GeneID	23169.
KEGG	hsa:23169.
UCSC	uc001ddk.1. human.
Organism-specific databases
CTD	23169.
GeneCards	GC01M067465.
H-InvDB	HIX0000682.
HGNC	HGNC:20800. SLC35D1.
MIM	269250. phenotype. 610804. gene.
neXtProt	NX_Q9NTN3.
Orphanet	3144. Schneckenbecken dysplasia.
PharmGKB	PA134978757.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG12255.
GeneTree	ENSGT00390000014204.
HOGENOM	HBG381255.
HOVERGEN	HBG054071.
InParanoid	Q9NTN3.
OMA	KMDIKGK.
OrthoDB	EOG4V1712.
PhylomeDB	Q9NTN3.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism. REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	Q9NTN3.
Bgee	Q9NTN3.
CleanEx	HS_SLC35D1.
Genevestigator	Q9NTN3.
GermOnline	ENSG00000116704. Homo sapiens.
Family and domain databases
InterPro	IPR004853. DUF250. [Graphical view]
KO	K15281.
Pfam	PF03151. TPT. 1 hit. [Graphical view]
ProtoNet	Search...
Other
DrugBank	DB00186. Lorazepam.
NextBio	44571.
SOURCE	Search...

Entry information

Entry name

S35D1_HUMAN

Accession

Primary (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:	January 25, 2012
This is version 84 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.