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Aliases for SLC35A3 Gene

Aliases for SLC35A3 Gene

  • Solute Carrier Family 35 Member A3 2 3 4 5
  • 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
  • UDP-N-Acetylglucosamine Transporter 3
  • 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 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant. 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 SLC35A2.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G099598 1.6 Ensembl ENCODE dbSUPER 9.7 -368.9 -368907 2.5 HDGF PKNOX1 FOXA2 ARNT YBX1 FOS JUNB REST ZNF592 MEF2D TRMT13 MFSD14A FRRS1 SLC35A3 LINC01708 ENSG00000233983
GH01G099943 1.2 Ensembl ENCODE 11.8 -25.0 -24998 1.6 HDAC1 PKNOX1 ATF1 CREB3L1 ARNT CHAMP1 TCF12 GATA2 ZSCAN5C NCOA1 LRRC39 SLC35A3 ENSG00000228084 FRRS1 GC01P099965 AGL
GH01G100130 1.2 ENCODE 7.9 +163.2 163182 4.1 CREB3L1 DMAP1 YY1 ZNF143 SP3 NFYC ZNF610 GLIS1 NBN NR2C1 RTCA SASS6 SLC35A3 ENSG00000226952
GH01G099969 1.2 ENCODE 5.9 +1.6 1589 2.9 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 SASS6 HNRNPA1P68 TRMT13 RTCA SLC30A7 ENSG00000227034 SLC35A3 GPR88 ENSG00000283761 RNU6-750P
GH01G099557 1.1 Ensembl ENCODE dbSUPER 4.8 -410.9 -410948 1.3 FOSL1 JUND JUN BHLHE40 MAFG FOS MAFK PALMD SLC35A3 BRI3P1 LINC01708 ENSG00000233983
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000010605 1413 1800 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3

Genomic Location for SLC35A3 Gene

Chromosome:
1
Start:
99,968,887 bp from pter
End:
100,035,637 bp from pter
Size:
66,751 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

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:0005351 sugar:proton symporter activity IEA --
GO:0005462 UDP-N-acetylglucosamine transmembrane transporter activity TAS --
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

Inhibitory RNA Products

Flow Cytometry 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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 IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC35A3: view

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:0006810 transport IEA --
GO:0008643 carbohydrate transport IEA --
GO:0015788 UDP-N-acetylglucosamine transport IMP 23089177
GO:0015992 proton transport IEA --
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:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SLC35A3 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC35A3 Gene:

SLC35A3

SOURCE GeneReport for Unigene cluster for SLC35A3 Gene:

Hs.448979

Evidence on tissue expression from TISSUES for SLC35A3 Gene

  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC35A3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • chin
  • face
  • head
  • jaw
  • mandible
  • skull
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • femur
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
genes like me logo Genes that share expression patterns with SLC35A3: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia SLC35A3 34 35
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia SLC35A3 34 35
  • 94.05 (n)
cow
(Bos Taurus)
Mammalia SLC35A3 34 35
  • 93.74 (n)
mouse
(Mus musculus)
Mammalia Slc35a3 34 16 35
  • 89.85 (n)
rat
(Rattus norvegicus)
Mammalia Slc35a3 34
  • 89.54 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC35A3 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC35A3 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC35A3 34 35
  • 75.16 (n)
lizard
(Anolis carolinensis)
Reptilia SLC35A3 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc35a3.2 34
  • 70.67 (n)
MGC75571 34
zebrafish
(Danio rerio)
Actinopterygii SLC35A3 (1 of 2) 35
  • 77 (a)
OneToMany
si:ch211-228b23.2 34
  • 68.21 (n)
SLC35A3 (2 of 2) 35
  • 67 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2501 34
fruit fly
(Drosophila melanogaster)
Insecta Csat 36
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea nstp-4 34 35
  • 58.61 (n)
C03H5.2 36
  • 47 (a)
B0212.4a 36
  • 40 (a)
B0212.4b 36
  • 40 (a)
ZK370.7 36
  • 39 (a)
ZK896.9 36
  • 39 (a)
F44C8.7 36
  • 38 (a)
ZC250.3 36
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8816 35
  • 50 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13887 34
Species where no ortholog for SLC35A3 was found in the sources mined by GeneCards:
  • 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

Sequence variations from dbSNP and Humsavar for SLC35A3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs141952252 Pathogenic 100,017,814(+) CAACC(A/G)GGTAA intron-variant, reference, missense
rs398122524 Pathogenic 100,011,413(+) GTTCT(C/T)AATTT reference, stop-gained
rs1000023518 -- 99,975,064(+) TAGCC(C/T)CCCAA intron-variant, utr-variant-5-prime
rs1000028546 -- 100,014,466(+) ATTCT(C/T)CTGCT intron-variant
rs1000181834 -- 99,974,374(+) CAGAG(A/T)GATTA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2567165 CNV deletion 19546169
esv2758952 CNV loss 17122850
nsv1003259 CNV loss 25217958
nsv10406 CNV gain 18304495
nsv1137786 CNV deletion 24896259
nsv428146 CNV gain 18775914
nsv526047 CNV gain 19592680
nsv546888 CNV loss 21841781

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC35A3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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
ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
  • ceroid lipofuscinosis, neuronal, 8
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 64
  2. Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis. (PMID: 24031089) Edvardson S. … Elpeleg O. (J. Med. Genet. 2013) 3 4 64
  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 64
  4. 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 64
  5. 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 64

Products for SLC35A3 Gene

Sources for SLC35A3 Gene

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