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 me... See more...

Aliases for ST3GAL5 Gene

Aliases for ST3GAL5 Gene

  • ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 5 2 3 5
  • Lactosylceramide Alpha-2,3-Sialyltransferase 2 3 4
  • Ganglioside GM3 Synthase 2 3 4
  • Sialyltransferase 9 (CMP-NeuAc:Lactosylceramide Alpha-2,3-Sialyltransferase; GM3 Synthase) 2 3
  • CMP-NeuAc:Lactosylceramide Alpha-2,3-Sialyltransferase 3 4
  • EC 2.4.99.9 4 52
  • 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
  • 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 Salt And Pepper Developmental Regression Syndrome and Infantile Epilepsy Syndrome. Among its related pathways are Metabolism of proteins and Glycosphingolipid biosynthesis - ganglio series. Gene Ontology (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 Summary 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

Additional gene information for ST3GAL5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ST3GAL5 Gene

Genomics for ST3GAL5 Gene

GeneHancer (GH) Regulatory Elements for ST3GAL5 Gene

Promoters and enhancers for ST3GAL5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J085885 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 510.5 +16.7 16664 5.2 HNRNPK ZBTB40 CTCF SIN3A NRF1 TCF12 USF1 SP1 JUND FOS ST3GAL5 ST3GAL5-AS1 lnc-POLR1A-7 ENSG00000229498 RNU1-38P GNLY CAPG lnc-POLR1A-5
GH02J085859 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 500.3 +41.1 41122 8.2 EP300 ZIC2 RELA TRIM22 ATF2 BCL11A NR2F2 TCF12 CREB1 ZNF316 ST3GAL5 ENSG00000229498 ATOH8 RNU1-38P POLR1A MRPL35 ENSG00000272564 IMMT lnc-POLR1A-6 lnc-POLR1A-7
GH02J085904 Enhancer 0.9 Ensembl dbSUPER 500.7 +1.2 1198 0.4 KDM6A TEAD1 ZSCAN9 FOXA2 USF1 SAP130 ZNF205 MIER3 FOXP1 SMAD4 ENSG00000272564 ST3GAL5 lnc-POLR1A-8 ST3GAL5-AS1
GH02J085905 Enhancer 0.6 Ensembl dbSUPER 500.7 -0.3 -302 1 CEBPB PCBP1 HNRNPK ESR1 ENSG00000272564 ST3GAL5 lnc-POLR1A-8 IMMT ST3GAL5-AS1 ENSG00000287628
GH02J085903 Enhancer 0.2 dbSUPER 500.7 +1.8 1818 0.2 ENSG00000272564 ST3GAL5 lnc-POLR1A-8 ST3GAL5-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ST3GAL5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ST3GAL5

Top Transcription factor binding sites by QIAGEN in the ST3GAL5 gene promoter:
  • aMEF-2
  • AREB6
  • ATF
  • CREB
  • deltaCREB
  • MEF-2A
  • RSRFC4
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for ST3GAL5 Gene

Genomic Locations for ST3GAL5 Gene
chr2:85,837,120-85,905,199
(GRCh38/hg38)
Size:
68,080 bases
Orientation:
Minus strand
chr2:86,066,267-86,116,157
(GRCh37/hg19)
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

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ST3GAL5 Gene

Blocks:
  • Glycosyl transferase, family 29
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ST3GAL5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ42872 fis, clone BRHIP2024165, moderately similar to Homo sapiens sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase (Q6ZV93_HUMAN)
  • Sialyltransferase 9 (SIAT9_HUMAN)

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 Function:
Catalyzes the formation of ganglioside GM3 (alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1, 4-beta-D-glucosylceramide).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = CMP + ganglioside GM3 (d18:1(4E)) + H(+); Xref=Rhea:RHEA:18417, ChEBI:CHEBI:15378, ChEBI:CHEBI:17950, ChEBI:CHEBI:57812, ChEBI:CHEBI:60065, ChEBI:CHEBI:60377; EC=2.4.99.9;.

Enzyme Numbers (IUBMB) for ST3GAL5 Gene

Phenotypes From GWAS Catalog for ST3GAL5 Gene

Gene Ontology (GO) - Molecular Function for ST3GAL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004513 neolactotetraosylceramide alpha-2,3-sialyltransferase activity TAS 9822625
GO:0008373 sialyltransferase activity IBA 21873635
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0047291 lactosylceramide alpha-2,3-sialyltransferase activity IBA,IDA 9822625
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ST3GAL5

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
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
cytoskeleton 1
peroxisome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 IEA,TAS 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

SIGNOR curated interactions for ST3GAL5 Gene

Is activated by:

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 IBA 21873635
GO:0006688 glycosphingolipid biosynthetic process TAS 10092602
GO:0097503 sialylation IEA --
genes like me logo Genes that share ontologies with ST3GAL5: view

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cytidine monophosphate N-acetylneuraminic acid
  • CMP-beta-Neu5ac
  • CMP-N-Acetylneuraminate
  • CMP-Sialic acid
  • CYTIDINE-5'-monophosphATE-5-N-acetylneuraminIC ACID
  • CMP-b-Neu5ac
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
Ganglioside GA1 (d18:1/16:0)
  • asialo Ganglioside GM1a
  • asialo GM1
  • asialo GM1 Ganglioside
  • Asialoganglioside g(m1) from bovine brain
  • Asialoganglioside GM1
Ganglioside GA1 (d18:1/18:0)
  • asialo Ganglioside GM1a
  • asialo GM1
  • asialo GM1 Ganglioside
  • Asialoganglioside g(m1) from bovine brain
  • Asialoganglioside GM1
Ganglioside GA1 (d18:1/20:0)
  • asialo Ganglioside GM1a
  • asialo GM1
  • asialo GM1 Ganglioside
  • Asialoganglioside g(m1) from bovine brain
  • Asialoganglioside GM1
genes like me logo Genes that share compounds with ST3GAL5: view

Transcripts for ST3GAL5 Gene

mRNA/cDNA for ST3GAL5 Gene

13 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
69 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ST3GAL5

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

Expression for ST3GAL5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for ST3GAL5 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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

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 31 30
  • 99.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ST3GAL5 31 30
  • 89.63 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ST3GAL5 31 30
  • 85.33 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia St3gal5 30
  • 84.37 (n)
mouse
(Mus musculus)
Mammalia St3gal5 17 31 30
  • 83.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ST3GAL5 31
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ST3GAL5 31
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ST3GAL5 31 30
  • 72.56 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ST3GAL5 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia st3gal5 30
  • 61.97 (n)
zebrafish
(Danio rerio)
Actinopterygii st3gal5 31 30
  • 53.06 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for ST3GAL5: view image

Paralogs for ST3GAL5 Gene

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

  • SIAT9_HUMAN
  • C9JYS9_HUMAN
  • E7EPY0_HUMAN
  • F8WEA8_HUMAN
  • G3V199_HUMAN

Pseudogenes.org Pseudogenes for ST3GAL5 Gene

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

Variants for ST3GAL5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ST3GAL5 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
644446 Uncertain Significance: Salt and pepper developmental regression syndrome 85,840,308(-) G/C MISSENSE_VARIANT
648244 Uncertain Significance: Salt and pepper developmental regression syndrome 85,848,035(-) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
649313 Uncertain Significance: Salt and pepper developmental regression syndrome 85,840,322(-) C/T MISSENSE_VARIANT
649422 Uncertain Significance: Salt and pepper developmental regression syndrome 85,840,154(-) C/T MISSENSE_VARIANT
650345 Uncertain Significance: Salt and pepper developmental regression syndrome 85,848,179(-) A/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for ST3GAL5 Gene

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)

Additional Variant Information 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

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

- 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.

Additional Disease Information for ST3GAL5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (The Journal of biological chemistry 1998) 2 3 4 23 54
  2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41 54
  3. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot". (PMID: 20628624) Johnatty SE … Australian Cancer Study (Ovarian Cancer) (PLoS genetics 2010) 3 41 54
  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 (Leukemia research 2010) 3 23 54
  5. Ganglioside depletion and EGF responses of human GM3 synthase-deficient fibroblasts. (PMID: 18480157) Liu Y … Ladisch S (Glycobiology 2008) 3 23 54

Products for ST3GAL5 Gene

Sources for ST3GAL5 Gene