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Protein

UDP-N-acetylglucosamine transporter

Gene

SLC35A3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

GO - Biological processi

  • carbohydrate transport Source: UniProtKB-KW
  • UDP-N-acetylglucosamine metabolic process Source: ProtInc
  • UDP-N-acetylglucosamine transmembrane transport Source: UniProtKB

Keywordsi

Biological processSugar transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-5619083 Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS)
R-HSA-727802 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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000117620.12
HGNCiHGNC:11023 SLC35A3
MIMi605632 gene
neXtProtiNX_Q9Y2D2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei8 – 24HelicalSequence analysisAdd BLAST17
Transmembranei42 – 58HelicalSequence analysisAdd BLAST17
Transmembranei138 – 154HelicalSequence analysisAdd BLAST17
Transmembranei173 – 189HelicalSequence analysisAdd BLAST17
Transmembranei209 – 225HelicalSequence analysisAdd BLAST17
Transmembranei246 – 262HelicalSequence analysisAdd BLAST17
Transmembranei268 – 284HelicalSequence analysisAdd BLAST17
Transmembranei295 – 311HelicalSequence analysisAdd BLAST17

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Arthrogryposis, mental retardation, and seizures (AMRS)1 Publication
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.
Disease descriptionA 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.
See also OMIM:615553

Keywords - Diseasei

Autism spectrum disorder, Epilepsy, Mental retardation

Organism-specific databases

DisGeNETi23443
MalaCardsiSLC35A3
MIMi615553 phenotype
OpenTargetsiENSG00000117620
Orphaneti370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome
PharmGKBiPA35891

Polymorphism and mutation databases

DMDMi9087207

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002133571 – 325UDP-N-acetylglucosamine transporterAdd BLAST325

Proteomic databases

PaxDbiQ9Y2D2
PeptideAtlasiQ9Y2D2
PRIDEiQ9Y2D2
TopDownProteomicsiQ9Y2D2-1 [Q9Y2D2-1]

PTM databases

iPTMnetiQ9Y2D2
PhosphoSitePlusiQ9Y2D2

Expressioni

Gene expression databases

BgeeiENSG00000117620
CleanExiHS_SLC35A3
ExpressionAtlasiQ9Y2D2 baseline and differential
GenevisibleiQ9Y2D2 HS

Organism-specific databases

HPAiHPA015253

Interactioni

Subunit structurei

Interacts with SLC35A2.1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi117010, 2 interactors
CORUMiQ9Y2D2
IntActiQ9Y2D2, 3 interactors
MINTiQ9Y2D2
STRINGi9606.ENSP00000359174

Structurei

3D structure databases

ProteinModelPortaliQ9Y2D2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2234 Eukaryota
COG0697 LUCA
GeneTreeiENSGT00550000074563
HOGENOMiHOG000216649
HOVERGENiHBG054025
InParanoidiQ9Y2D2
KOiK15272
OMAiEHSAGSQ
OrthoDBiEOG091G0CHS
PhylomeDBiQ9Y2D2
TreeFamiTF315345

Family and domain databases

InterProiView protein in InterPro
IPR007271 Nuc_sug_transpt
PANTHERiPTHR10231 PTHR10231, 1 hit
PfamiView protein in Pfam
PF04142 Nuc_sug_transp, 1 hit
PIRSFiPIRSF005799 UDP-gal_transpt, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0127861M → MSSRSVLSPVVGTDAPDQHL ELKKPQELKEMERLPLANED KTM in isoform 2. 1 Publication1
Alternative sequenceiVSP_054232212 – 220GFFGSIFGL → VSFSLEPSL in isoform 3. 1 Publication9
Alternative sequenceiVSP_054233221 – 325Missing in isoform 3. 1 PublicationAdd BLAST105

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_005270691.4 [Q9Y2D2-1]
XP_011539438.1, XM_011541136.2 [Q9Y2D2-1]
UniGeneiHs.448979
Hs.534953

Genome annotation databases

EnsembliENST00000370153; ENSP00000359172; ENSG00000117620 [Q9Y2D2-2]
ENST00000427993; ENSP00000414947; ENSG00000117620 [Q9Y2D2-1]
ENST00000465289; ENSP00000418527; ENSG00000117620 [Q9Y2D2-1]
ENST00000533028; ENSP00000433849; ENSG00000117620 [Q9Y2D2-1]
ENST00000638336; ENSP00000491145; ENSG00000117620 [Q9Y2D2-3]
GeneIDi23443
KEGGihsa:23443
UCSCiuc001dsp.3 human [Q9Y2D2-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiS35A3_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2D2
Secondary accession number(s): A8K3F8
, D3DT54, Q68CR2, Q9BSB7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1999
Last modified: April 25, 2018
This is version 143 of the entry and version 1 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health