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Aliases for ST3GAL5 Gene

Aliases for ST3GAL5 Gene

  • ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 5 2 3 5
  • Sialyltransferase 9 (CMP-NeuAc:Lactosylceramide Alpha-2,3-Sialyltransferase; GM3 Synthase) 2 3
  • CMP-NeuAc:Lactosylceramide Alpha-2,3-Sialyltransferase 3 4
  • Ganglioside GM3 Synthase 3 4
  • EC 2.4.99.9 4 61
  • ST3Gal V 3 4
  • ST3GalV 3 4
  • SIAT9 3 4
  • ST3 Beta-Galactoside Alpha-23-Sialyltransferase 5 3
  • Lactosylceramide Alpha-2,3-Sialyltransferase 3
  • Alpha 2,3-Sialyltransferase V 3
  • Sialyltransferase 9 4
  • GM3 Synthase 3
  • SIATGM3S 3
  • SPDRS 3
  • SATI 3

External Ids for ST3GAL5 Gene

Previous HGNC Symbols for ST3GAL5 Gene

  • SIAT9

Previous GeneCards Identifiers for ST3GAL5 Gene

  • GC02M085978
  • GC02M085919
  • GC02M086066
  • GC02M085963

Summaries for ST3GAL5 Gene

Entrez Gene Summary for ST3GAL5 Gene

  • Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ST3GAL5 Gene

ST3GAL5 (ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 5) is a Protein Coding gene. Diseases associated with ST3GAL5 include Amish Infantile Epilepsy Syndrome and In Situ Pulmonary Adenocarcinoma. Among its related pathways are Synthesis of substrates in N-glycan biosythesis and Glycosphingolipid biosynthesis - ganglio series. GO annotations related to this gene include sialyltransferase activity and lactosylceramide alpha-2,3-sialyltransferase activity. An important paralog of this gene is ST3GAL3.

UniProtKB/Swiss-Prot for ST3GAL5 Gene

  • Catalyzes the formation of ganglioside GM3 (alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1, 4-beta-D-glucosylceramide).

Gene Wiki entry for ST3GAL5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ST3GAL5 Gene

Genomics for ST3GAL5 Gene

Regulatory Elements for ST3GAL5 Gene

Enhancers for ST3GAL5 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
GH02G085885 1.7 FANTOM5 ENCODE dbSUPER 10.5 +16.7 16664 5.2 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A ZBTB7B YY1 ZNF766 CBX5 LOC284950 RNU1-38P ST3GAL5 ST3GAL5-AS1 GNLY CAPG GC02M085888 GC02M085889 GC02P085883
GH02G085892 1.6 FANTOM5 Ensembl ENCODE dbSUPER 6.1 +11.0 11040 3.0 FOXA2 SIN3A ARID3A POLR2A CBX5 PRDM10 PAF1 RFX1 ZNF10 HLF ST3GAL5-AS1 ST3GAL5 POLR1A ENSG00000272564
GH02G085933 1.6 FANTOM5 Ensembl ENCODE 4.6 -30.4 -30356 4.0 HDGF PKNOX1 CREB3L1 ARNT SIN3A FEZF1 YY1 ZNF766 FOS JUNB LOC284950 IMMT ENSG00000273080 POLR1A MRPL35 ST3GAL5 GC02P085952
GH02G085920 1.4 Ensembl ENCODE dbSUPER 4.5 -16.8 -16815 2.0 HDAC1 TBL1XR1 ARNT RAD21 YY1 TCF12 ZNF766 GATA2 FOS CREM LOC284950 RNU1-38P ST3GAL5-AS1 ST3GAL5 GC02P085952
GH02G085896 0.8 dbSUPER 4.9 +3.7 3734 9.9 HDGF FOXA2 MLX ZFP64 RAD21 ZSCAN9 ZNF366 SCRT2 FOS PAF1 MRPL35 POLR1A IMMT ST3GAL5-AS1 ENSG00000272564 ST3GAL5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ST3GAL5 on UCSC Golden Path with GeneCards custom track

Genomic Location for ST3GAL5 Gene

Chromosome:
2
Start:
85,837,120 bp from pter
End:
85,905,199 bp from pter
Size:
68,080 bases
Orientation:
Minus strand

Genomic View for ST3GAL5 Gene

Genes around ST3GAL5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ST3GAL5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ST3GAL5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ST3GAL5 Gene

Proteins for ST3GAL5 Gene

  • Protein details for ST3GAL5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UNP4-SIAT9_HUMAN
    Recommended name:
    Lactosylceramide alpha-2,3-sialyltransferase
    Protein Accession:
    Q9UNP4
    Secondary Accessions:
    • B3KM82
    • D6W5L9
    • O94902
    • Q53QU1
    • Q6NZX4
    • Q6YFL1

    Protein attributes for ST3GAL5 Gene

    Size:
    418 amino acids
    Molecular mass:
    47990 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD14634.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAF66146.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAQ89463.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAY24147.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA33950.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ST3GAL5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ST3GAL5 Gene

Selected DME Specific Peptides for ST3GAL5 Gene

Q9UNP4:
  • EGYSEHVGNKTTIRMTYPEGAPLSD
  • LPFWVRLFFWKQVAEK
  • MHNVTTET
  • VLFKSVDF
  • DVVIRLN
  • QPRTPLHYFD
  • KYDPPFGFRKFS

Post-translational modifications for ST3GAL5 Gene

Domains & Families for ST3GAL5 Gene

Gene Families for ST3GAL5 Gene

Protein Domains for ST3GAL5 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UNP4

UniProtKB/Swiss-Prot:

SIAT9_HUMAN :
  • Belongs to the glycosyltransferase 29 family.
Family:
  • Belongs to the glycosyltransferase 29 family.
genes like me logo Genes that share domains with ST3GAL5: view

Function for ST3GAL5 Gene

Molecular function for ST3GAL5 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
CMP-N-acetylneuraminate + beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide = CMP + alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide.
UniProtKB/Swiss-Prot Function:
Catalyzes the formation of ganglioside GM3 (alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1, 4-beta-D-glucosylceramide).

Enzyme Numbers (IUBMB) for ST3GAL5 Gene

Gene Ontology (GO) - Molecular Function for ST3GAL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003836 beta-galactoside (CMP) alpha-2,3-sialyltransferase activity TAS --
GO:0004513 neolactotetraosylceramide alpha-2,3-sialyltransferase activity TAS 9822625
GO:0008373 sialyltransferase activity IEA,TAS 10092602
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with ST3GAL5: view
genes like me logo Genes that share phenotypes with ST3GAL5: view

Human Phenotype Ontology for ST3GAL5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ST3GAL5 Gene

MGI Knock Outs for ST3GAL5:

Animal Model Products

  • Taconic Biosciences Mouse Models for ST3GAL5

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ST3GAL5 Gene

Localization for ST3GAL5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ST3GAL5 Gene

Golgi apparatus membrane; Single-pass type II 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 ST3GAL5 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 4
cytosol 2
mitochondrion 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ST3GAL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0005887 integral component of plasma membrane TAS 9822625
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS,IEA 10092602
genes like me logo Genes that share ontologies with ST3GAL5: view

Pathways & Interactions for ST3GAL5 Gene

genes like me logo Genes that share pathways with ST3GAL5: view

Gene Ontology (GO) - Biological Process for ST3GAL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001574 ganglioside biosynthetic process NAS 9822625
GO:0005975 carbohydrate metabolic process TAS 9822625
GO:0006486 protein glycosylation IEA --
GO:0006688 glycosphingolipid biosynthetic process TAS 10092602
GO:0009311 oligosaccharide metabolic process IBA --
genes like me logo Genes that share ontologies with ST3GAL5: view

No data available for SIGNOR curated interactions for ST3GAL5 Gene

Drugs & Compounds for ST3GAL5 Gene

(2) Drugs for ST3GAL5 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytidine monophosphate Experimental Pharma 0
99mTc-14 F7 Mab Investigational Pharma Target 0

(79) Additional Compounds for ST3GAL5 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cytidine monophosphate N-acetylneuraminic acid
  • CMP-N-Acetylneuraminate
  • CMP-N-Acylneuraminate
  • CMP-NeuNAc
  • Cytidine 5'-monophosphate N-acetylneuraminic acid
  • Cytidine Monophosphate N-Acetylneuraminate
22-12-8
Ganglioside GA1 (d18:1/12:0)
  • Asialo ganglioside GM1a
  • Asialo GM1
  • Asialo GM1 ganglioside
  • Asialoganglioside G(M1) from bovine brain
  • Asialoganglioside GM1
71012-19-6
Ganglioside GA1 (d18:1/16:0)
  • Asialo ganglioside GM1a
  • Asialo GM1
  • Asialo GM1 ganglioside
  • Asialoganglioside G(M1) from bovine brain
  • Asialoganglioside GM1
71012-19-6
Ganglioside GA1 (d18:1/20:0)
  • Asialo ganglioside GM1a
  • Asialo GM1
  • Asialo GM1 ganglioside
  • Asialoganglioside G(M1) from bovine brain
  • Asialoganglioside GM1
71012-19-6
Ganglioside GA1 (d18:1/24:0)
  • Asialo ganglioside GM1a
  • Asialo GM1
  • Asialo GM1 ganglioside
  • Asialoganglioside G(M1) from bovine brain
  • Asialoganglioside GM1
71012-19-6
genes like me logo Genes that share compounds with ST3GAL5: view

Transcripts for ST3GAL5 Gene

Unigene Clusters for ST3GAL5 Gene

ST3 beta-galactoside alpha-2,3-sialyltransferase 5:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ST3GAL5 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ·
SP1: - - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - -
SP5: - - - -
SP6:
SP7: - - - - - - - - -
SP8: - - -
SP9: - -
SP10: - - - -
SP11: - - -
SP12:

ExUns: 14c · 14d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for ST3GAL5 Gene

GeneLoc Exon Structure for
ST3GAL5
ECgene alternative splicing isoforms for
ST3GAL5

Expression for ST3GAL5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ST3GAL5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ST3GAL5 Gene

This gene is overexpressed in Heart (61.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ST3GAL5 Gene



NURSA nuclear receptor signaling pathways regulating expression of ST3GAL5 Gene:

ST3GAL5

SOURCE GeneReport for Unigene cluster for ST3GAL5 Gene:

Hs.415117

mRNA Expression by UniProt/SwissProt for ST3GAL5 Gene:

Q9UNP4-SIAT9_HUMAN
Tissue specificity: Ubiquitous. High expression in brain, skeletal muscle, placenta, and testis.

Evidence on tissue expression from TISSUES for ST3GAL5 Gene

  • Nervous system(4.8)
  • Skin(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ST3GAL5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
Thorax:
  • esophagus
Abdomen:
  • stomach
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ST3GAL5: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for ST3GAL5 Gene

Orthologs for ST3GAL5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ST3GAL5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ST3GAL5 34 35
  • 99.26 (n)
dog
(Canis familiaris)
Mammalia ST3GAL5 34 35
  • 89.63 (n)
cow
(Bos Taurus)
Mammalia ST3GAL5 34 35
  • 85.33 (n)
rat
(Rattus norvegicus)
Mammalia St3gal5 34
  • 84.37 (n)
mouse
(Mus musculus)
Mammalia St3gal5 34 16 35
  • 83.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ST3GAL5 35
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ST3GAL5 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ST3GAL5 34 35
  • 72.56 (n)
lizard
(Anolis carolinensis)
Reptilia ST3GAL5 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia st3gal5 34
  • 61.97 (n)
zebrafish
(Danio rerio)
Actinopterygii st3gal5 34 35
  • 53.06 (n)
Species where no ortholog for ST3GAL5 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ST3GAL5 Gene

ENSEMBL:
Gene Tree for ST3GAL5 (if available)
TreeFam:
Gene Tree for ST3GAL5 (if available)

Paralogs for ST3GAL5 Gene

(5) SIMAP similar genes for ST3GAL5 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for ST3GAL5 Gene

genes like me logo Genes that share paralogs with ST3GAL5: view

Variants for ST3GAL5 Gene

Sequence variations from dbSNP and Humsavar for ST3GAL5 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs104893668 Pathogenic 85,844,542(-) GGGTA(C/T)GACTC intron-variant, nc-transcript-variant, reference, stop-gained
rs534438354 Pathogenic 85,840,338(+) GACTT(C/T)ATCGC nc-transcript-variant, reference, missense
rs771732955 Pathogenic 85,847,922(+) TCCTC(C/T)GCTTC nc-transcript-variant, reference, missense
rs886037930 Pathogenic 85,847,939(-) GCGCT(C/G)TGTGG nc-transcript-variant, reference, missense
rs112372963 Uncertain significance 85,839,729(+) CAAGC(A/G/T)GCGCA nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ST3GAL5 Gene

Variant ID Type Subtype PubMed ID
nsv1143942 CNV deletion 24896259

Variation tolerance for ST3GAL5 Gene

Residual Variation Intolerance Score: 54.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.28; 76.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ST3GAL5 Gene

Human Gene Mutation Database (HGMD)
ST3GAL5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ST3GAL5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ST3GAL5 Gene

Disorders for ST3GAL5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ST3GAL5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
amish infantile epilepsy syndrome
  • salt-and-pepper syndrome
in situ pulmonary adenocarcinoma
  • bronchioalveolar carcinoma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SIAT9_HUMAN
  • Salt and pepper developmental regression syndrome (SPDRS) [MIM:609056]: A rare autosomal recessive disorder characterized by infantile onset of severe, recurrent and refractory seizures, failure to thrive, psychomotor delay, developmental stagnation, and cortical blindness. Deafness is observed in some patients. Affected individuals have patches of skin hypo- or hyperpigmentation on the trunk, face, and extremities. {ECO:0000269 PubMed:15502825}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ST3GAL5

Genetic Association Database (GAD)
ST3GAL5
Human Genome Epidemiology (HuGE) Navigator
ST3GAL5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ST3GAL5
genes like me logo Genes that share disorders with ST3GAL5: view

No data available for Genatlas for ST3GAL5 Gene

Publications for ST3GAL5 Gene

  1. Expression cloning and functional characterization of human cDNA for ganglioside GM3 synthase. (PMID: 9822625) Ishii A. … Saito M. (J. Biol. Chem. 1998) 2 3 4 22 64
  2. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility &amp;quot;hot-spot&amp;quot;. (PMID: 20628624) Johnatty S.E. … . (PLoS Genet. 2010) 3 46 64
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 64
  4. Elevated mRNA level of hST6Gal I and hST3Gal V positively correlates with the high risk of pediatric acute leukemia. (PMID: 19709745) Mondal S. … Mandal C. (Leuk. Res. 2010) 3 22 64
  5. Ganglioside depletion and EGF responses of human GM3 synthase-deficient fibroblasts. (PMID: 18480157) Liu Y. … Ladisch S. (Glycobiology 2008) 3 22 64

Products for ST3GAL5 Gene

Sources for ST3GAL5 Gene

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