ID S35A3_HUMAN Reviewed; 325 AA. AC Q9Y2D2; A8K3F8; D3DT54; Q68CR2; Q9BSB7; DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot. DT 01-NOV-1999, sequence version 1. DT 05-OCT-2016, entry version 134. DE RecName: Full=UDP-N-acetylglucosamine transporter; DE AltName: Full=Golgi UDP-GlcNAc transporter; DE AltName: Full=Solute carrier family 35 member A3; GN Name=SLC35A3; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, AND SUBCELLULAR RP LOCATION. RX PubMed=10393322; DOI=10.1093/oxfordjournals.jbchem.a022437; RA Ishida N., Yoshioka S., Chiba Y., Takeuchi M., Kawakita M.; RT "Molecular cloning and functional expression of the human Golgi UDP-N- RT acetylglucosamine transporter."; RL J. Biochem. 126:68-77(1999). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). 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., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA 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., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). RC TISSUE=Colon carcinoma; RX PubMed=17974005; DOI=10.1186/1471-2164-8-399; RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.; RT "The full-ORF clone resource of the German cDNA consortium."; RL BMC Genomics 8:399-399(2007). 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., RA Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., RA Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., RA McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C., RA Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., RA Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., RA Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., RA Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., RA Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., RA Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., RA 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., RA Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., RA Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., RA Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., RA Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., RA Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., RA Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., RA Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., RA 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., RA Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., RA Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., RA Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., RA Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., RA Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., RA 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 GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., RA Venter J.C.; RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). RC TISSUE=Placenta; 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [7] RP INTERACTION WITH SLC35A2. RX PubMed=23089177; DOI=10.1016/j.febslet.2012.10.016; RA Maszczak-Seneczko D., Sosicka P., Majkowski M., Olczak T., Olczak M.; RT "UDP-N-acetylglucosamine transporter and UDP-galactose transporter RT form heterologous complexes in the Golgi membrane."; RL FEBS Lett. 586:4082-4087(2012). RN [8] RP INVOLVEMENT IN AMRS. RX PubMed=24031089; DOI=10.1136/jmedgenet-2013-101753; RA Edvardson S., Ashikov A., Jalas C., Sturiale L., Shaag A., Fedick A., RA Treff N.R., Garozzo D., Gerardy-Schahn R., Elpeleg O.; RT "Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and RT arthrogryposis."; RL J. Med. Genet. 50:733-739(2013). CC -!- FUNCTION: Uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc) CC transporter in the Golgi apparatus. May supply UDP-GlcNAc as CC substrate for Golgi-resident glycosyltransferases that generate CC branching of diantennary oligosaccharides. CC {ECO:0000269|PubMed:10393322}. CC -!- SUBUNIT: Interacts with SLC35A2. {ECO:0000269|PubMed:23089177}. CC -!- INTERACTION: CC P78381-1:SLC35A2; NbExp=3; IntAct=EBI-3917581, EBI-8101118; CC P78381-2:SLC35A2; NbExp=2; IntAct=EBI-3917581, EBI-8101093; CC -!- SUBCELLULAR LOCATION: Golgi apparatus membrane CC {ECO:0000269|PubMed:10393322}; Multi-pass membrane protein CC {ECO:0000269|PubMed:10393322}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=Q9Y2D2-1; Sequence=Displayed; CC Name=2; CC IsoId=Q9Y2D2-2; Sequence=VSP_012786; CC Note=No experimental confirmation available.; CC Name=3; CC IsoId=Q9Y2D2-3; Sequence=VSP_054232, VSP_054233; CC Note=No experimental confirmation available.; CC -!- DISEASE: Arthrogryposis, mental retardation, and seizures (AMRS) CC [MIM:615553]: A disease characterized by arthrogryposis, mental CC retardation, autism spectrum disorder, and epilepsy. Additional CC features include limb malformations, distal joint involvement, CC microcephaly, retromicrognathia, and general muscle hypotonia. CC {ECO:0000269|PubMed:24031089}. Note=The disease is caused by CC mutations affecting the gene represented in this entry. In Golgi CC vesicles isolated from patient fibroblasts the transport of the CC respective nucleotide sugar is significantly reduced causing a CC massive decrease in the content of cell surface expressed highly CC branched N-glycans and a concomitant sharp increase of lower CC branched glycoforms. CC -!- SIMILARITY: Belongs to the nucleotide-sugar transporter family. CC SLC35A subfamily. {ECO:0000305}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AB021981; BAA77841.1; -; mRNA. DR EMBL; AK290573; BAF83262.1; -; mRNA. DR EMBL; CR749816; CAH18676.1; -; mRNA. DR EMBL; AC118553; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471097; EAW72977.1; -; Genomic_DNA. DR EMBL; CH471097; EAW72978.1; -; Genomic_DNA. DR EMBL; CH471097; EAW72979.1; -; Genomic_DNA. DR EMBL; BC005136; AAH05136.1; -; mRNA. DR CCDS; CCDS60204.1; -. [Q9Y2D2-2] DR CCDS; CCDS60205.1; -. [Q9Y2D2-3] DR CCDS; CCDS762.1; -. [Q9Y2D2-1] DR RefSeq; NP_001258613.1; NM_001271684.1. [Q9Y2D2-3] DR RefSeq; NP_001258614.1; NM_001271685.1. [Q9Y2D2-2] DR RefSeq; NP_036375.1; NM_012243.2. [Q9Y2D2-1] DR RefSeq; XP_005270748.1; XM_005270691.4. [Q9Y2D2-1] DR RefSeq; XP_011539438.1; XM_011541136.2. [Q9Y2D2-1] DR UniGene; Hs.448979; -. DR UniGene; Hs.534953; -. DR ProteinModelPortal; Q9Y2D2; -. DR SMR; Q9Y2D2; 37-315, 123-270, 180-313. DR BioGrid; 117010; 2. DR IntAct; Q9Y2D2; 3. DR MINT; MINT-4781806; -. DR STRING; 9606.ENSP00000359174; -. DR TCDB; 2.A.7.12.7; the drug/metabolite transporter (dmt) superfamily. DR iPTMnet; Q9Y2D2; -. DR PhosphoSite; Q9Y2D2; -. DR DMDM; 9087207; -. DR PaxDb; Q9Y2D2; -. DR PeptideAtlas; Q9Y2D2; -. DR PRIDE; Q9Y2D2; -. DR TopDownProteomics; Q9Y2D2-1; -. [Q9Y2D2-1] DR Ensembl; ENST00000370153; ENSP00000359172; ENSG00000117620. [Q9Y2D2-2] DR Ensembl; ENST00000427993; ENSP00000414947; ENSG00000117620. [Q9Y2D2-1] DR Ensembl; ENST00000465289; ENSP00000418527; ENSG00000117620. [Q9Y2D2-3] DR Ensembl; ENST00000533028; ENSP00000433849; ENSG00000117620. [Q9Y2D2-1] DR GeneID; 23443; -. DR KEGG; hsa:23443; -. DR UCSC; uc001dsp.3; human. [Q9Y2D2-1] DR CTD; 23443; -. DR GeneCards; SLC35A3; -. DR HGNC; HGNC:11023; SLC35A3. DR HPA; HPA015253; -. DR MalaCards; SLC35A3; -. DR MIM; 605632; gene. DR MIM; 615553; phenotype. DR neXtProt; NX_Q9Y2D2; -. DR Orphanet; 370943; Autism spectrum disorder-epilepsy-arthrogryposis syndrome. DR PharmGKB; PA35891; -. DR eggNOG; KOG2234; Eukaryota. DR eggNOG; COG0697; LUCA. DR GeneTree; ENSGT00550000074563; -. DR HOGENOM; HOG000216649; -. DR HOVERGEN; HBG054025; -. DR InParanoid; Q9Y2D2; -. DR KO; K15272; -. DR OMA; NWAVWST; -. DR OrthoDB; EOG091G0CHS; -. DR PhylomeDB; Q9Y2D2; -. DR TreeFam; TF315345; -. DR Reactome; R-HSA-5619083; Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS). DR Reactome; R-HSA-727802; Transport of nucleotide sugars. DR ChiTaRS; SLC35A3; human. DR GenomeRNAi; 23443; -. DR PRO; PR:Q9Y2D2; -. DR Proteomes; UP000005640; Chromosome 1. DR Bgee; ENSG00000117620; -. DR CleanEx; HS_SLC35A3; -. DR ExpressionAtlas; Q9Y2D2; baseline and differential. DR Genevisible; Q9Y2D2; HS. DR GO; GO:0005794; C:Golgi apparatus; TAS:ProtInc. DR GO; GO:0000139; C:Golgi membrane; TAS:Reactome. DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW. DR GO; GO:0005351; F:sugar:proton symporter activity; IEA:InterPro. DR GO; GO:0005462; F:UDP-N-acetylglucosamine transmembrane transporter activity; TAS:Reactome. DR GO; GO:0006047; P:UDP-N-acetylglucosamine metabolic process; TAS:ProtInc. DR GO; GO:0015788; P:UDP-N-acetylglucosamine transport; IMP:UniProtKB. DR InterPro; IPR007271; Nuc_sug_transpt. DR PANTHER; PTHR10231; PTHR10231; 1. DR Pfam; PF04142; Nuc_sug_transp; 1. DR PIRSF; PIRSF005799; UDP-gal_transpt; 1. PE 1: Evidence at protein level; KW Alternative splicing; Autism spectrum disorder; Complete proteome; KW Epilepsy; Golgi apparatus; Membrane; Mental retardation; KW Reference proteome; Sugar transport; Transmembrane; KW Transmembrane helix; Transport. FT CHAIN 1 325 UDP-N-acetylglucosamine transporter. FT /FTId=PRO_0000213357. FT TRANSMEM 8 24 Helical. {ECO:0000255}. FT TRANSMEM 42 58 Helical. {ECO:0000255}. FT TRANSMEM 138 154 Helical. {ECO:0000255}. FT TRANSMEM 173 189 Helical. {ECO:0000255}. FT TRANSMEM 209 225 Helical. {ECO:0000255}. FT TRANSMEM 246 262 Helical. {ECO:0000255}. FT TRANSMEM 268 284 Helical. {ECO:0000255}. FT TRANSMEM 295 311 Helical. {ECO:0000255}. FT VAR_SEQ 1 1 M -> MSSRSVLSPVVGTDAPDQHLELKKPQELKEMERLPL FT ANEDKTM (in isoform 2). FT {ECO:0000303|PubMed:17974005}. FT /FTId=VSP_012786. FT VAR_SEQ 212 220 GFFGSIFGL -> VSFSLEPSL (in isoform 3). FT {ECO:0000303|PubMed:15489334}. FT /FTId=VSP_054232. FT VAR_SEQ 221 325 Missing (in isoform 3). FT {ECO:0000303|PubMed:15489334}. FT /FTId=VSP_054233. SQ SEQUENCE 325 AA; 35985 MW; 69DFD944E37206C8 CRC64; MFANLKYVSL GILVFQTTSL VLTMRYSRTL KEEGPRYLSS TAVVVAELLK IMACILLVYK DSKCSLRALN RVLHDEILNK PMETLKLAIP SGIYTLQNNL LYVALSNLDA ATYQVTYQLK ILTTALFSVS MLSKKLGVYQ WLSLVILMTG VAFVQWPSDS QLDSKELSAG SQFVGLMAVL TACFSSGFAG VYFEKILKET KQSVWIRNIQ LGFFGSIFGL MGVYIYDGEL VSKNGFFQGY NRLTWIVVVL QALGGLVIAA VIKYADNILK GFATSLSIIL STLISYFWLQ DFVPTSVFFL GAILVITATF LYGYDPKPAG NPTKA //