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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 63
  • ST3Gal V 3 4
  • ST3GalV 3 4
  • SIAT9 3 4
  • ST3 Beta-Galactoside Alpha-23-Sialyltransferase 5 3
  • Alpha 2,3-Sialyltransferase V 3
  • Sialyltransferase 9 4
  • GM3 Synthase 3
  • SIATGM3S 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 epilepsy syndrome. Among its related pathways are Glycosphingolipid biosynthesis - ganglio series and Metabolism. GO annotations related to this gene include sialyltransferase activity and lactosylceramide alpha-2,3-sialyltransferase activity. An important paralog of this gene is ST3GAL4.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ST3GAL5 Gene

Genomics for ST3GAL5 Gene

Regulatory Elements for ST3GAL5 Gene

Promoters for ST3GAL5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ST3GAL5 on UCSC Golden Path with GeneCards custom track

Genomic Location for ST3GAL5 Gene

Chromosome:
2
Start:
85,839,144 bp from pter
End:
85,889,034 bp from pter
Size:
49,891 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

Proteomics data for ST3GAL5 Gene at MOPED

Post-translational modifications for ST3GAL5 Gene

Other Protein References 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

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

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for ST3GAL5 Gene COMPARTMENTS Subcellular localization image for ST3GAL5 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 4
cytosol 2
mitochondrion 1
nucleus 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for ST3GAL5 Gene

Pathways & Interactions for ST3GAL5 Gene

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

Interacting Proteins for ST3GAL5 Gene

Gene Ontology (GO) - Biological Process for ST3GAL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 9822625
GO:0006486 protein glycosylation IEA --
GO:0043687 post-translational protein modification TAS --
GO:0097503 sialylation TAS 10092602
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

(1) Drugs for ST3GAL5 Gene - From: DrugBank

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cytidine monophosphate
  • 5'-CMP
  • 5-Cytidylate
  • 5-Cytidylic acid
  • CMP
  • Cytidine 5'-monophosphate
63-37-6
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
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:

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 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, MOPED, and MaxQB for ST3GAL5 Gene



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.
genes like me logo Genes that share expression patterns with ST3GAL5: view

Primer Products

In Situ Assay 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 35
  • 99.26 (n)
  • 98.62 (a)
ST3GAL5 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ST3GAL5 36
  • 87 (a)
OneToOne
ST3GAL5 35
  • 85.33 (n)
  • 86.12 (a)
dog
(Canis familiaris)
Mammalia ST3GAL5 35
  • 89.63 (n)
  • 91.63 (a)
ST3GAL5 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia St3gal5 16
St3gal5 36
  • 84 (a)
OneToOne
St3gal5 35
  • 83.62 (n)
  • 83.05 (a)
oppossum
(Monodelphis domestica)
Mammalia ST3GAL5 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ST3GAL5 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia St3gal5 35
  • 84.37 (n)
  • 83.16 (a)
chicken
(Gallus gallus)
Aves ST3GAL5 35
  • 72.56 (n)
  • 69.89 (a)
ST3GAL5 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ST3GAL5 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia st3gal5 35
  • 61.97 (n)
  • 60.26 (a)
zebrafish
(Danio rerio)
Actinopterygii st3gal5 36
  • 45 (a)
OneToOne
st3gal5 35
  • 53.06 (n)
  • 48.42 (a)
Species with no ortholog for ST3GAL5:
  • 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
VAR_025510 -
rs1533605 -- 85,865,130(-) acaag(A/G)cagaa intron-variant
rs1533606 -- 85,864,596(-) TTTTT(C/T)TTTTT intron-variant
rs1518990 -- 85,852,218(-) GACAC(A/G)AGTTT intron-variant
rs1518991 -- 85,886,391(-) cagtc(A/G)cggcc intron-variant

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

HapMap Linkage Disequilibrium report
ST3GAL5
Human Gene Mutation Database (HGMD)
ST3GAL5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ST3GAL5 Gene

Disorders for ST3GAL5 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
amish infantile epilepsy syndrome
  • epilepsy syndrome, infantile-onset symptomatic
epilepsy syndrome
  • epilepsy
epileptic encephalopathy, early infantile, 18
  • eiee18
salt and pepper syndrome
  • salt & pepper syndrome
in situ pulmonary adenocarcinoma
  • bronchioalveolar carcinoma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SIAT9_HUMAN
  • Amish infantile epilepsy syndrome (AIES) [MIM:609056]: An autosomal recessive, infantile-onset symptomatic epilepsy associated with developmental stagnation and blindness. {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 23 67
  2. 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 23
  3. Ganglioside depletion and EGF responses of human GM3 synthase-deficient fibroblasts. (PMID: 18480157) Liu Y. … Ladisch S. (Glycobiology 2008) 3 23
  4. Molecular mechanism for transcriptional activation of ganglioside GM3 synthase and its function in differentiation of HL-60 cells. (PMID: 15385432) Chung T.W. … Kim C.H. (Glycobiology 2005) 3 23
  5. Combinatorial PCR approach to homology-based cloning: cloning and expression of mouse and human GM3-synthase. (PMID: 10619706) Kapitonov D. … Yu R.K. (Glycoconj. J. 1999) 3 23

Products for ST3GAL5 Gene

Sources for ST3GAL5 Gene

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