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Q9Y2D2

- S35A3_HUMAN

UniProt

Q9Y2D2 - S35A3_HUMAN

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Protein

UDP-N-acetylglucosamine transporter

Gene

SLC35A3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc) transporter in the Golgi apparatus. May supply UDP-GlcNAc as substrate for Golgi-resident glycosyltransferases that generate branching of diantennary oligosaccharides.1 Publication

GO - Molecular functioni

  1. sugar:proton symporter activity Source: InterPro
  2. UDP-N-acetylglucosamine transmembrane transporter activity Source: ProtInc

GO - Biological processi

  1. transmembrane transport Source: Reactome
  2. UDP-N-acetylglucosamine metabolic process Source: ProtInc
  3. UDP-N-acetylglucosamine transport Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Sugar transport, Transport

Enzyme and pathway databases

ReactomeiREACT_22151. Transport of nucleotide sugars.

Protein family/group databases

TCDBi2.A.7.12.7. the drug/metabolite transporter (dmt) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
UDP-N-acetylglucosamine transporter
Alternative name(s):
Golgi UDP-GlcNAc transporter
Solute carrier family 35 member A3
Gene namesi
Name:SLC35A3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:11023. SLC35A3.

Subcellular locationi

Golgi apparatus membrane 1 Publication; Multi-pass membrane protein 1 Publication

GO - Cellular componenti

  1. Golgi apparatus Source: ProtInc
  2. Golgi membrane Source: Reactome
  3. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Arthrogryposis, mental retardation, and seizures (AMRS) [MIM:615553]: A disease characterized by arthrogryposis, mental retardation, autism spectrum disorder, and epilepsy. Additional features include limb malformations, distal joint involvement, microcephaly, retromicrognathia, and general muscle hypotonia.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry. In Golgi vesicles isolated from patient fibroblasts the transport of the respective nucleotide sugar is significantly reduced causing a massive decrease in the content of cell surface expressed highly branched N-glycans and a concomitant sharp increase of lower branched glycoforms.

Keywords - Diseasei

Epilepsy, Mental retardation

Organism-specific databases

MIMi615553. phenotype.
Orphaneti370943. Autism spectrum disorder-epilepsy-arthrogryposis syndrome.
PharmGKBiPA35891.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 325325UDP-N-acetylglucosamine transporterPRO_0000213357Add
BLAST

Proteomic databases

MaxQBiQ9Y2D2.
PaxDbiQ9Y2D2.
PRIDEiQ9Y2D2.

PTM databases

PhosphoSiteiQ9Y2D2.

Expressioni

Gene expression databases

BgeeiQ9Y2D2.
CleanExiHS_SLC35A3.
ExpressionAtlasiQ9Y2D2. baseline and differential.
GenevestigatoriQ9Y2D2.

Organism-specific databases

HPAiHPA015253.

Interactioni

Subunit structurei

Interacts with SLC35A2.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
SLC35A2P78381-13EBI-3917581,EBI-8101118
SLC35A2P78381-22EBI-3917581,EBI-8101093

Protein-protein interaction databases

BioGridi117010. 3 interactions.
IntActiQ9Y2D2. 3 interactions.
MINTiMINT-4781806.
STRINGi9606.ENSP00000359174.

Structurei

3D structure databases

ProteinModelPortaliQ9Y2D2.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei8 – 2417HelicalSequence AnalysisAdd
BLAST
Transmembranei42 – 5817HelicalSequence AnalysisAdd
BLAST
Transmembranei138 – 15417HelicalSequence AnalysisAdd
BLAST
Transmembranei173 – 18917HelicalSequence AnalysisAdd
BLAST
Transmembranei209 – 22517HelicalSequence AnalysisAdd
BLAST
Transmembranei246 – 26217HelicalSequence AnalysisAdd
BLAST
Transmembranei268 – 28417HelicalSequence AnalysisAdd
BLAST
Transmembranei295 – 31117HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0697.
GeneTreeiENSGT00550000074563.
HOGENOMiHOG000216649.
HOVERGENiHBG054025.
InParanoidiQ9Y2D2.
KOiK15272.
OrthoDBiEOG7NCV4D.
PhylomeDBiQ9Y2D2.
TreeFamiTF315345.

Family and domain databases

InterProiIPR007271. Nuc_sug_transpt.
IPR021189. UDP/CMP-sugar_transptr.
IPR004689. UDPgal_transpt.
[Graphical view]
PANTHERiPTHR10231. PTHR10231. 1 hit.
PfamiPF04142. Nuc_sug_transp. 1 hit.
[Graphical view]
PIRSFiPIRSF005799. UDP-gal_transpt. 1 hit.
TIGRFAMsiTIGR00803. nst. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9Y2D2-1) [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
MFANLKYVSL GILVFQTTSL VLTMRYSRTL KEEGPRYLSS TAVVVAELLK
60 70 80 90 100
IMACILLVYK DSKCSLRALN RVLHDEILNK PMETLKLAIP SGIYTLQNNL
110 120 130 140 150
LYVALSNLDA ATYQVTYQLK ILTTALFSVS MLSKKLGVYQ WLSLVILMTG
160 170 180 190 200
VAFVQWPSDS QLDSKELSAG SQFVGLMAVL TACFSSGFAG VYFEKILKET
210 220 230 240 250
KQSVWIRNIQ LGFFGSIFGL MGVYIYDGEL VSKNGFFQGY NRLTWIVVVL
260 270 280 290 300
QALGGLVIAA VIKYADNILK GFATSLSIIL STLISYFWLQ DFVPTSVFFL
310 320
GAILVITATF LYGYDPKPAG NPTKA
Length:325
Mass (Da):35,985
Last modified:November 1, 1999 - v1
Checksum:i69DFD944E37206C8
GO
Isoform 2 (identifier: Q9Y2D2-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSSRSVLSPVVGTDAPDQHLELKKPQELKEMERLPLANEDKTM

Note: No experimental confirmation available.

Show »
Length:367
Mass (Da):40,685
Checksum:i74DAFC72A15E3E74
GO
Isoform 3 (identifier: Q9Y2D2-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     212-220: GFFGSIFGL → VSFSLEPSL
     221-325: Missing.

Note: No experimental confirmation available.

Show »
Length:220
Mass (Da):24,545
Checksum:i1EDE61D54973288C
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MSSRSVLSPVVGTDAPDQHL ELKKPQELKEMERLPLANED KTM in isoform 2. 1 PublicationVSP_012786
Alternative sequencei212 – 2209GFFGSIFGL → VSFSLEPSL in isoform 3. 1 PublicationVSP_054232
Alternative sequencei221 – 325105Missing in isoform 3. 1 PublicationVSP_054233Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB021981 mRNA. Translation: BAA77841.1.
AK290573 mRNA. Translation: BAF83262.1.
CR749816 mRNA. Translation: CAH18676.1.
AC118553 Genomic DNA. No translation available.
CH471097 Genomic DNA. Translation: EAW72977.1.
CH471097 Genomic DNA. Translation: EAW72978.1.
CH471097 Genomic DNA. Translation: EAW72979.1.
BC005136 mRNA. Translation: AAH05136.1.
CCDSiCCDS60204.1. [Q9Y2D2-2]
CCDS60205.1. [Q9Y2D2-3]
CCDS762.1. [Q9Y2D2-1]
RefSeqiNP_001258613.1. NM_001271684.1. [Q9Y2D2-3]
NP_001258614.1. NM_001271685.1. [Q9Y2D2-2]
NP_036375.1. NM_012243.2. [Q9Y2D2-1]
XP_005270748.1. XM_005270691.2. [Q9Y2D2-1]
UniGeneiHs.448979.
Hs.534953.

Genome annotation databases

EnsembliENST00000370153; ENSP00000359172; ENSG00000117620. [Q9Y2D2-2]
ENST00000370155; ENSP00000359174; ENSG00000117620. [Q9Y2D2-1]
ENST00000427993; ENSP00000414947; ENSG00000117620. [Q9Y2D2-1]
ENST00000465289; ENSP00000418527; ENSG00000117620. [Q9Y2D2-3]
ENST00000533028; ENSP00000433849; ENSG00000117620. [Q9Y2D2-1]
GeneIDi23443.
KEGGihsa:23443.
UCSCiuc001dsp.2. human. [Q9Y2D2-1]
uc001dsr.2. human. [Q9Y2D2-2]
uc009wdy.2. human.

Polymorphism databases

DMDMi9087207.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB021981 mRNA. Translation: BAA77841.1 .
AK290573 mRNA. Translation: BAF83262.1 .
CR749816 mRNA. Translation: CAH18676.1 .
AC118553 Genomic DNA. No translation available.
CH471097 Genomic DNA. Translation: EAW72977.1 .
CH471097 Genomic DNA. Translation: EAW72978.1 .
CH471097 Genomic DNA. Translation: EAW72979.1 .
BC005136 mRNA. Translation: AAH05136.1 .
CCDSi CCDS60204.1. [Q9Y2D2-2 ]
CCDS60205.1. [Q9Y2D2-3 ]
CCDS762.1. [Q9Y2D2-1 ]
RefSeqi NP_001258613.1. NM_001271684.1. [Q9Y2D2-3 ]
NP_001258614.1. NM_001271685.1. [Q9Y2D2-2 ]
NP_036375.1. NM_012243.2. [Q9Y2D2-1 ]
XP_005270748.1. XM_005270691.2. [Q9Y2D2-1 ]
UniGenei Hs.448979.
Hs.534953.

3D structure databases

ProteinModelPortali Q9Y2D2.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117010. 3 interactions.
IntActi Q9Y2D2. 3 interactions.
MINTi MINT-4781806.
STRINGi 9606.ENSP00000359174.

Protein family/group databases

TCDBi 2.A.7.12.7. the drug/metabolite transporter (dmt) superfamily.

PTM databases

PhosphoSitei Q9Y2D2.

Polymorphism databases

DMDMi 9087207.

Proteomic databases

MaxQBi Q9Y2D2.
PaxDbi Q9Y2D2.
PRIDEi Q9Y2D2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000370153 ; ENSP00000359172 ; ENSG00000117620 . [Q9Y2D2-2 ]
ENST00000370155 ; ENSP00000359174 ; ENSG00000117620 . [Q9Y2D2-1 ]
ENST00000427993 ; ENSP00000414947 ; ENSG00000117620 . [Q9Y2D2-1 ]
ENST00000465289 ; ENSP00000418527 ; ENSG00000117620 . [Q9Y2D2-3 ]
ENST00000533028 ; ENSP00000433849 ; ENSG00000117620 . [Q9Y2D2-1 ]
GeneIDi 23443.
KEGGi hsa:23443.
UCSCi uc001dsp.2. human. [Q9Y2D2-1 ]
uc001dsr.2. human. [Q9Y2D2-2 ]
uc009wdy.2. human.

Organism-specific databases

CTDi 23443.
GeneCardsi GC01P100435.
HGNCi HGNC:11023. SLC35A3.
HPAi HPA015253.
MIMi 605632. gene.
615553. phenotype.
neXtProti NX_Q9Y2D2.
Orphaneti 370943. Autism spectrum disorder-epilepsy-arthrogryposis syndrome.
PharmGKBi PA35891.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0697.
GeneTreei ENSGT00550000074563.
HOGENOMi HOG000216649.
HOVERGENi HBG054025.
InParanoidi Q9Y2D2.
KOi K15272.
OrthoDBi EOG7NCV4D.
PhylomeDBi Q9Y2D2.
TreeFami TF315345.

Enzyme and pathway databases

Reactomei REACT_22151. Transport of nucleotide sugars.

Miscellaneous databases

ChiTaRSi SLC35A3. human.
GenomeRNAii 23443.
NextBioi 45719.
PROi Q9Y2D2.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y2D2.
CleanExi HS_SLC35A3.
ExpressionAtlasi Q9Y2D2. baseline and differential.
Genevestigatori Q9Y2D2.

Family and domain databases

InterProi IPR007271. Nuc_sug_transpt.
IPR021189. UDP/CMP-sugar_transptr.
IPR004689. UDPgal_transpt.
[Graphical view ]
PANTHERi PTHR10231. PTHR10231. 1 hit.
Pfami PF04142. Nuc_sug_transp. 1 hit.
[Graphical view ]
PIRSFi PIRSF005799. UDP-gal_transpt. 1 hit.
TIGRFAMsi TIGR00803. nst. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and functional expression of the human Golgi UDP-N-acetylglucosamine transporter."
    Ishida N., Yoshioka S., Chiba Y., Takeuchi M., Kawakita M.
    J. Biochem. 126:68-77(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION.
  2. "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] (ISOFORM 1).
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Colon carcinoma.
  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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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 3).
    Tissue: Placenta.
  7. "UDP-N-acetylglucosamine transporter and UDP-galactose transporter form heterologous complexes in the Golgi membrane."
    Maszczak-Seneczko D., Sosicka P., Majkowski M., Olczak T., Olczak M.
    FEBS Lett. 586:4082-4087(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH SLC35A2.
  8. "Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis."
    Edvardson S., Ashikov A., Jalas C., Sturiale L., Shaag A., Fedick A., Treff N.R., Garozzo D., Gerardy-Schahn R., Elpeleg O.
    J. Med. Genet. 50:733-739(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN AMRS.

Entry informationi

Entry nameiS35A3_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2D2
Secondary accession number(s): A8K3F8
, D3DT54, Q68CR2, Q9BSB7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1999
Last modified: October 29, 2014
This is version 119 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3