S35D1_HUMAN
ID S35D1_HUMAN Reviewed; 355 AA.
AC Q9NTN3; A8K185; B7Z3X2; Q52LU5; Q92548;
DT 23-JAN-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 165.
DE RecName: Full=UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter;
DE Short=UDP-GlcA/UDP-GalNAc transporter;
DE AltName: Full=Solute carrier family 35 member D1;
DE AltName: Full=UDP-galactose transporter-related protein 7;
DE Short=UGTrel7;
GN Name=SLC35D1; Synonyms=KIAA0260, UGTREL7;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, SUBCELLULAR LOCATION, AND
RP TISSUE SPECIFICITY.
RC TISSUE=Uterus;
RX PubMed=11322953; DOI=10.1016/s0014-5793(01)02358-4;
RA Muraoka M., Kawakita M., Ishida N.;
RT "Molecular characterization of human UDP-glucuronic acid/UDP-N-
RT acetylgalactosamine transporter, a novel nucleotide sugar transporter with
RT dual substrate specificity.";
RL FEBS Lett. 495:87-93(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Bone marrow;
RX PubMed=9039502; DOI=10.1093/dnares/3.5.321;
RA Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O.,
RA Tanaka A., Kotani H., Miyajima N., Nomura N.;
RT "Prediction of the coding sequences of unidentified human genes. VI. The
RT coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of
RT cDNA clones from cell line KG-1 and brain.";
RL DNA Res. 3:321-329(1996).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, and Thalamus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Liver;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP FUNCTION, AND INVOLVEMENT IN SHNKND.
RX PubMed=17952091; DOI=10.1038/nm1655;
RA Hiraoka S., Furuichi T., Nishimura G., Shibata S., Yanagishita M.,
RA Rimoin D.L., Superti-Furga A., Nikkels P.G., Ogawa M., Katsuyama K.,
RA Toyoda H., Kinoshita-Toyoda A., Ishida N., Isono K., Sanai Y., Cohn D.H.,
RA Koseki H., Ikegawa S.;
RT "Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate
RT synthesis in cartilage and skeletal development in mouse and human.";
RL Nat. Med. 13:1363-1367(2007).
CC -!- FUNCTION: Transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-
CC acetylgalactosamine (UDP-GalNAc) from the cytoplasm into the
CC endoplasmic reticulum lumen (PubMed:11322953, PubMed:17952091). Plays a
CC role in chondroitin sulfate biosynthesis, which is important for
CC formation of cartilage extracellular matrix and normal skeletal
CC development (By similarity). {ECO:0000250|UniProtKB:A2AKQ0,
CC ECO:0000269|PubMed:11322953, ECO:0000269|PubMed:17952091}.
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000269|PubMed:11322953}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9NTN3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NTN3-2; Sequence=VSP_056860, VSP_056861;
CC -!- TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11322953}.
CC -!- DISEASE: Schneckenbecken dysplasia (SHNKND) [MIM:269250]: A rare,
CC lethal autosomal recessive skeletal dysplasia characterized by snail-
CC like configuration of the hypoplastic iliac bone, short-limbed
CC dwarfism, short ribs, and flattened, hypoplastic vertebral bodies.
CC SHNKND is lethal in the neonatal period. {ECO:0000269|PubMed:17952091}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- SIMILARITY: Belongs to the TPT transporter family. SLC35D subfamily.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA13390.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB044343; BAB18586.1; -; mRNA.
DR EMBL; D87449; BAA13390.1; ALT_INIT; mRNA.
DR EMBL; AK289800; BAF82489.1; -; mRNA.
DR EMBL; AK296449; BAH12358.1; -; mRNA.
DR EMBL; AL133320; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC093786; AAH93786.1; -; mRNA.
DR EMBL; BC112031; AAI12032.1; -; mRNA.
DR CCDS; CCDS636.1; -. [Q9NTN3-1]
DR RefSeq; NP_055954.1; NM_015139.2. [Q9NTN3-1]
DR AlphaFoldDB; Q9NTN3; -.
DR SMR; Q9NTN3; -.
DR BioGRID; 116781; 3.
DR STRING; 9606.ENSP00000235345; -.
DR TCDB; 2.A.7.15.4; the drug/metabolite transporter (dmt) superfamily.
DR iPTMnet; Q9NTN3; -.
DR PhosphoSitePlus; Q9NTN3; -.
DR BioMuta; SLC35D1; -.
DR DMDM; 20140875; -.
DR EPD; Q9NTN3; -.
DR jPOST; Q9NTN3; -.
DR MassIVE; Q9NTN3; -.
DR MaxQB; Q9NTN3; -.
DR PaxDb; Q9NTN3; -.
DR PeptideAtlas; Q9NTN3; -.
DR PRIDE; Q9NTN3; -.
DR ProteomicsDB; 6551; -.
DR ProteomicsDB; 82626; -. [Q9NTN3-1]
DR Antibodypedia; 33400; 117 antibodies from 19 providers.
DR DNASU; 23169; -.
DR Ensembl; ENST00000235345.6; ENSP00000235345.5; ENSG00000116704.8. [Q9NTN3-1]
DR GeneID; 23169; -.
DR KEGG; hsa:23169; -.
DR MANE-Select; ENST00000235345.6; ENSP00000235345.5; NM_015139.3; NP_055954.1.
DR UCSC; uc001ddk.3; human. [Q9NTN3-1]
DR CTD; 23169; -.
DR DisGeNET; 23169; -.
DR GeneCards; SLC35D1; -.
DR HGNC; HGNC:20800; SLC35D1.
DR HPA; ENSG00000116704; Tissue enhanced (liver).
DR MalaCards; SLC35D1; -.
DR MIM; 269250; phenotype.
DR MIM; 610804; gene.
DR neXtProt; NX_Q9NTN3; -.
DR OpenTargets; ENSG00000116704; -.
DR Orphanet; 3144; Schneckenbecken dysplasia.
DR PharmGKB; PA134978757; -.
DR VEuPathDB; HostDB:ENSG00000116704; -.
DR eggNOG; KOG1444; Eukaryota.
DR GeneTree; ENSGT00940000155665; -.
DR HOGENOM; CLU_040726_1_0_1; -.
DR InParanoid; Q9NTN3; -.
DR OMA; IQSTVCV; -.
DR OrthoDB; 1093260at2759; -.
DR PhylomeDB; Q9NTN3; -.
DR TreeFam; TF313307; -.
DR PathwayCommons; Q9NTN3; -.
DR Reactome; R-HSA-173599; Formation of the active cofactor, UDP-glucuronate.
DR Reactome; R-HSA-5579020; Defective SLC35D1 causes SCHBCKD.
DR Reactome; R-HSA-727802; Transport of nucleotide sugars.
DR BioGRID-ORCS; 23169; 13 hits in 1077 CRISPR screens.
DR ChiTaRS; SLC35D1; human.
DR GenomeRNAi; 23169; -.
DR Pharos; Q9NTN3; Tbio.
DR PRO; PR:Q9NTN3; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9NTN3; protein.
DR Bgee; ENSG00000116704; Expressed in secondary oocyte and 200 other tissues.
DR Genevisible; Q9NTN3; HS.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; TAS:Reactome.
DR GO; GO:0005794; C:Golgi apparatus; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0015297; F:antiporter activity; IBA:GO_Central.
DR GO; GO:0005461; F:UDP-glucuronic acid transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0005463; F:UDP-N-acetylgalactosamine transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0005462; F:UDP-N-acetylglucosamine transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0008643; P:carbohydrate transport; IEA:UniProtKB-KW.
DR InterPro; IPR004853; Sugar_P_trans_dom.
DR Pfam; PF03151; TPT; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Dwarfism; Endoplasmic reticulum; Membrane;
KW Reference proteome; Sugar transport; Transmembrane; Transmembrane helix;
KW Transport.
FT CHAIN 1..355
FT /note="UDP-glucuronic acid/UDP-N-acetylgalactosamine
FT transporter"
FT /id="PRO_0000213394"
FT TRANSMEM 37..59
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 69..88
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 158..177
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 187..205
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 217..239
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 254..276
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 281..303
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 308..330
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..22
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..79
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056860"
FT VAR_SEQ 321..355
FT /note="IAGSLVYSYITFTEEQLSKQSEANNKLDIKGKGAV -> CICHRGLCELRVG
FT SATLGG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056861"
FT VARIANT 82
FT /note="A -> T (in dbSNP:rs10157422)"
FT /id="VAR_042729"
SQ SEQUENCE 355 AA; 39240 MW; CAFF15D49605CA27 CRC64;
MAEVHRRQHA RVKGEAPAKS STLRDEEELG MASAETLTVF LKLLAAGFYG VSSFLIVVVN
KSVLTNYRFP SSLCVGLGQM VATVAVLWVG KALRVVKFPD LDRNVPRKTF PLPLLYFGNQ
ITGLFSTKKL NLPMFTVLRR FSILFTMFAE GVLLKKTFSW GIKMTVFAMI IGAFVAASSD
LAFDLEGYAF ILINDVLTAA NGAYVKQKLD SKELGKYGLL YYNALFMILP TLAIAYFTGD
AQKAVEFEGW ADTLFLLQFT LSCVMGFILM YATVLCTQYN SALTTTIVGC IKNILITYIG
MVFGGDYIFT WTNFIGLNIS IAGSLVYSYI TFTEEQLSKQ SEANNKLDIK GKGAV
