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Aliases for SLC35A3 Gene

Aliases for SLC35A3 Gene

  • Solute Carrier Family 35 Member A3 2 3 4
  • Solute Carrier Family 35 (UDP-N-Acetylglucosamine (UDP-GlcNAc) Transporter), Member A3 2 3 5
  • Solute Carrier Family 35 (UDP-N-Acetylglucosamine (UDP-GlcNAc) Transporter), Member 3 2 3
  • Golgi UDP-GlcNAc Transporter 3 4
  • AMRS 3

External Ids for SLC35A3 Gene

Previous GeneCards Identifiers for SLC35A3 Gene

  • GC01P101231
  • GC01P099569
  • GC01P099726
  • GC01P099898
  • GC01P100147
  • GC01P100208
  • GC01P100435
  • GC01P098557

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 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 vitamins, nucleosides, and related molecules. 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

Regulatory Elements for SLC35A3 Gene

Enhancers for SLC35A3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC35A3 on UCSC Golden Path with GeneCards custom track

Promoters for SLC35A3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC35A3 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC35A3 Gene

Chromosome:
1
Start:
99,968,887 bp from pter
End:
100,026,979 bp from pter
Size:
58,093 bases
Orientation:
Plus strand

Genomic View for SLC35A3 Gene

Genes around SLC35A3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC35A3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC35A3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

No data available for DME Specific Peptides for SLC35A3 Gene

Domains & Families for SLC35A3 Gene

Gene Families for SLC35A3 Gene

Protein Domains for SLC35A3 Gene

Suggested Antigen Peptide Sequences for SLC35A3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2D2

UniProtKB/Swiss-Prot:

S35A3_HUMAN :
  • Belongs to the nucleotide-sugar transporter family. SLC35A subfamily.
Family:
  • Belongs to the nucleotide-sugar transporter family. SLC35A subfamily.
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: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

Human Phenotype Ontology for SLC35A3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for SLC35A3 Gene

Pathways & Interactions 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:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with SLC35A3: view

No data available for SIGNOR curated interactions for SLC35A3 Gene

Drugs & Compounds for SLC35A3 Gene

(1) Additional Compounds for SLC35A3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs 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
  • UDP-a-D-N-Acetylglucosamine
  • UDP-Acetyl-D-glucosamine
  • UDP-Acetyl-delta-glucosamine
  • UDP-Acetylglucosamine
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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC35A3 Gene

This gene is overexpressed in Nasal epithelium (57.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SLC35A3: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for SLC35A3 Gene

Orthologs for SLC35A3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC35A3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC35A3 35
  • 93.74 (n)
  • 98.46 (a)
SLC35A3 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC35A3 35
  • 94.05 (n)
  • 98.15 (a)
SLC35A3 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc35a3 35
  • 89.85 (n)
  • 95.38 (a)
Slc35a3 16
Slc35a3 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC35A3 35
  • 99.69 (n)
  • 99.69 (a)
SLC35A3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc35a3 35
  • 89.54 (n)
  • 94.77 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC35A3 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC35A3 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC35A3 35
  • 75.16 (n)
  • 81.68 (a)
SLC35A3 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC35A3 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75571 35
slc35a3.2 35
  • 70.67 (n)
  • 85.54 (a)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-228b23.2 35
  • 68.21 (n)
  • 78.33 (a)
SLC35A3 (1 of 2) 36
  • 77 (a)
OneToMany
SLC35A3 (2 of 2) 36
  • 67 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2501 35
fruit fly
(Drosophila melanogaster)
Insecta Csat 37
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea B0212.4a 37
  • 40 (a)
B0212.4b 37
  • 40 (a)
C03H5.2 37
  • 47 (a)
F44C8.7 37
  • 38 (a)
ZC250.3 37
  • 36 (a)
ZK370.7 37
  • 39 (a)
ZK896.9 37
  • 39 (a)
nstp-4 35
  • 58.61 (n)
  • 57.49 (a)
nstp-4 36
  • 53 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13887 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8816 36
  • 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

(3) 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

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

Variation tolerance for SLC35A3 Gene

Residual Variation Intolerance Score: 32.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.93; 59.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC35A3 Gene

Human Gene Mutation Database (HGMD)
SLC35A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for SLC35A3 Gene

Disorders for SLC35A3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC35A3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
arthrogryposis, mental retardation, and seizures
  • arthrogryposis, mental retardation and seizures
autism spectrum disorder-epilepsy-arthrogryposis syndrome
  • slc35a3-cdg
autism spectrum disorder
  • pervasive development disorder
- elite association - COSMIC cancer census association via MalaCards

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC35A3
genes like me logo Genes that share disorders with SLC35A3: view

No data available for Genatlas for SLC35A3 Gene

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 67
  2. UDP-galactose (SLC35A2) and UDP-N-acetylglucosamine (SLC35A3) Transporters Form Glycosylation-related Complexes with Mannoside Acetylglucosaminyltransferases (Mgats). (PMID: 25944901) Maszczak-Seneczko D. … Olczak M. (J. Biol. Chem. 2015) 3
  3. 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
  4. Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis. (PMID: 24031089) Edvardson S. … Elpeleg O. (J. Med. Genet. 2013) 3
  5. 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

Products for SLC35A3 Gene

Sources for SLC35A3 Gene

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