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Aliases for SLC35A3 Gene

Aliases for SLC35A3 Gene

  • Solute Carrier Family 35 (UDP-N-Acetylglucosamine (UDP-GlcNAc) Transporter), Member A3 2 3
  • Solute Carrier Family 35 (UDP-N-Acetylglucosamine (UDP-GlcNAc) Transporter), Member 3 2 3
  • Golgi UDP-GlcNAc Transporter 3 4
  • AMRS 3 6
  • UDP-N-Acetylglucosamine Transporter 3
  • Solute Carrier Family 35 Member A3 4

External Ids for SLC35A3 Gene

Summaries for SLC35A3 Gene

Entrez Gene Summary for SLC35A3 Gene

  • This gene encodes a UDP-N-acetylglucosamine transporter found in the golgi apparatus membrane. In cattle, a missense mutation in this gene causes complex vertebral malformation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

GeneCards Summary for SLC35A3 Gene

SLC35A3 (Solute Carrier Family 35 (UDP-N-Acetylglucosamine (UDP-GlcNAc) Transporter), Member A3) is a Protein Coding gene. Diseases associated with SLC35A3 include arthrogryposis, mental retardation, and seizures and autism spectrum disorder-epilepsy-arthrogryposis syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include sugar:proton symporter activity and UDP-N-acetylglucosamine transmembrane transporter activity. An important paralog of this gene is SLC35A5.

UniProtKB/Swiss-Prot for SLC35A3 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC35A3 Gene

Genomics for SLC35A3 Gene

Genomic Location for SLC35A3 Gene

Start:
99,968,955 bp from pter
End:
100,026,979 bp from pter
Size:
58,025 bases
Orientation:
Plus strand

Genomic View for SLC35A3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC35A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC35A3 Gene

Regulatory Elements for SLC35A3 Gene

Proteins for SLC35A3 Gene

  • Protein details for SLC35A3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2D2-S35A3_HUMAN
    Recommended name:
    UDP-N-acetylglucosamine transporter
    Protein Accession:
    Q9Y2D2
    Secondary Accessions:
    • A8K3F8
    • D3DT54
    • Q68CR2
    • Q9BSB7

    Protein attributes for SLC35A3 Gene

    Size:
    325 amino acids
    Molecular mass:
    35985 Da
    Quaternary structure:
    • Interacts with SLC35A2.

    Alternative splice isoforms for SLC35A3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC35A3 Gene

Proteomics data for SLC35A3 Gene at MOPED

Post-translational modifications for SLC35A3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC35A3 Gene

No data available for DME Specific Peptides for SLC35A3 Gene

Domains for SLC35A3 Gene

Gene Families for SLC35A3 Gene

Protein Domains for SLC35A3 Gene

UniProtKB/Swiss-Prot:

S35A3_HUMAN
Family:
  • Belongs to the nucleotide-sugar transporter family. SLC35A subfamily.:
    • Q9Y2D2
genes like me logo Genes that share domains with SLC35A3: view

Function for SLC35A3 Gene

Molecular function for SLC35A3 Gene

GENATLAS Biochemistry: solute carrier family 35,member A3,UDP N-acetylglucosamine transporter,ubiquitously expressed
UniProtKB/Swiss-Prot Function: 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.

Gene Ontology (GO) - Molecular Function for SLC35A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005338 nucleotide-sugar transmembrane transporter activity --
GO:0005351 sugar:proton symporter activity IEA --
GO:0005462 UDP-N-acetylglucosamine transmembrane transporter activity TAS 10393322
GO:0005515 protein binding IPI 23089177
genes like me logo Genes that share ontologies with SLC35A3: view
genes like me logo Genes that share phenotypes with SLC35A3: view

miRNA for SLC35A3 Gene

miRTarBase miRNAs that target SLC35A3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SLC35A3 Gene

Localization for SLC35A3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC35A3 Gene

Golgi apparatus membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC35A3 Gene COMPARTMENTS Subcellular localization image for SLC35A3 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 2
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SLC35A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus TAS 10393322
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC35A3: view

Pathways for SLC35A3 Gene

genes like me logo Genes that share pathways with SLC35A3: view

Gene Ontology (GO) - Biological Process for SLC35A3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006047 UDP-N-acetylglucosamine metabolic process TAS 10393322
GO:0008643 carbohydrate transport IEA --
GO:0015780 nucleotide-sugar transport --
GO:0015788 UDP-N-acetylglucosamine transport IMP 23089177
GO:0015992 proton transport IEA --
genes like me logo Genes that share ontologies with SLC35A3: view

Compounds for SLC35A3 Gene

(1) HMDB Compounds for SLC35A3 Gene

Compound Synonyms Cas Number PubMed IDs
Uridine diphosphate-N-acetylglucosamine
  • N-[2-[[[5-[(2,4-dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide
528-04-1
genes like me logo Genes that share compounds with SLC35A3: view

Transcripts for SLC35A3 Gene

Unigene Clusters for SLC35A3 Gene

Solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC35A3 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: - - - -
SP2:
SP3: - - - - - -
SP4:
SP5: - - -
SP6: -
SP7: - -

Relevant External Links for SLC35A3 Gene

GeneLoc Exon Structure for
SLC35A3
ECgene alternative splicing isoforms for
SLC35A3

Expression for SLC35A3 Gene

mRNA expression in normal human tissues for SLC35A3 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC35A3 Gene

SOURCE GeneReport for Unigene cluster for SLC35A3 Gene Hs.448979

genes like me logo Genes that share expressions with SLC35A3: view

Orthologs for SLC35A3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC35A3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC35A3 36
  • 99.69 (n)
  • 99.69 (a)
SLC35A3 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC35A3 36
  • 93.74 (n)
  • 98.46 (a)
SLC35A3 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC35A3 36
  • 94.05 (n)
  • 98.15 (a)
SLC35A3 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc35a3 36
  • 89.85 (n)
  • 95.38 (a)
Slc35a3 16
Slc35a3 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC35A3 37
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC35A3 37
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc35a3 36
  • 89.54 (n)
  • 94.77 (a)
chicken
(Gallus gallus)
Aves SLC35A3 36
  • 75.16 (n)
  • 81.68 (a)
SLC35A3 37
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC35A3 37
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75571 36
slc35a3.2 36
  • 70.67 (n)
  • 85.54 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2501 36
zebrafish
(Danio rerio)
Actinopterygii si:ch211-228b23.2 36
  • 68.21 (n)
  • 78.33 (a)
SLC35A3 (1 of 2) 37
  • 77 (a)
OneToMany
SLC35A3 (2 of 2) 37
  • 67 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Csat 38
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea nstp-4 36
  • 58.61 (n)
  • 57.49 (a)
nstp-4 37
  • 53 (a)
OneToOne
ZK370.7 38
  • 39 (a)
B0212.4b 38
  • 40 (a)
C03H5.2 38
  • 47 (a)
ZK896.9 38
  • 39 (a)
B0212.4a 38
  • 40 (a)
ZC250.3 38
  • 36 (a)
F44C8.7 38
  • 38 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13887 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8816 37
  • 50 (a)
OneToOne
Species with no ortholog for SLC35A3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC35A3 Gene

ENSEMBL:
Gene Tree for SLC35A3 (if available)
TreeFam:
Gene Tree for SLC35A3 (if available)

Paralogs for SLC35A3 Gene

Paralogs for SLC35A3 Gene

Selected SIMAP similar genes for SLC35A3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SLC35A3: view

Variants for SLC35A3 Gene

Sequence variations from dbSNP and Humsavar for SLC35A3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs14699 -- 100,025,991(-) TCCAC(C/G)GTAAA utr-variant-3-prime
rs473688 -- 100,027,311(+) agcca(A/G)tatgt downstream-variant-500B
rs474492 -- 100,015,471(+) TAATA(C/T)AAAGA intron-variant
rs481660 -- 100,005,288(-) tctac(C/T)aaaag intron-variant
rs482466 -- 100,022,621(-) CACAT(A/C/G/T)TCTTA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SLC35A3 Gene

Variant ID Type Subtype PubMed ID
nsv526047 CNV Gain 19592680
nsv871116 CNV Gain 21882294
dgv73e1 CNV Complex 17122850
nsv428146 CNV Gain 18775914
nsv10406 CNV Gain 18304495
esv2567165 CNV Deletion 19546169

Relevant External Links for SLC35A3 Gene

HapMap Linkage Disequilibrium report
SLC35A3
Human Gene Mutation Database (HGMD)
SLC35A3

Disorders for SLC35A3 Gene

(1) OMIM Diseases for SLC35A3 Gene (605632)

UniProtKB/Swiss-Prot

S35A3_HUMAN
  • 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. {ECO:0000269 PubMed:24031089}. 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.

Relevant External Links for SLC35A3

Genetic Association Database (GAD)
SLC35A3
genes like me logo Genes that share disorders with SLC35A3: view

Publications for SLC35A3 Gene

  1. Molecular cloning and functional expression of the human Golgi UDP-N- acetylglucosamine transporter. (PMID: 10393322) Ishida N. … Kawakita M. (J. Biochem. 1999) 2 3 4
  2. Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis. (PMID: 24031089) Edvardson S. … Elpeleg O. (J. Med. Genet. 2013) 3 4
  3. UDP-N-acetylglucosamine transporter and UDP-galactose transporter form heterologous complexes in the Golgi membrane. (PMID: 23089177) Maszczak-Seneczko D. … Olczak M. (FEBS Lett. 2012) 3 4
  4. UDP-Gal/UDP-GlcNAc chimeric transporter complements mutation defect in mammalian cells deficient in UDP-Gal transporter. (PMID: 23583405) Olczak M. … Olczak T. (Biochem. Biophys. Res. Commun. 2013) 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 4

Products for SLC35A3 Gene

  • antibodies-online proteins for SLC35A3
  • antibodies-online antibodies for SLC35A3
  • antibodies-online kits for SLC35A3

Sources for SLC35A3 Gene

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