The protein encoded by this gene is a Golgi type II transmembrane glycosyltransferase. The encoded protein catalyzes the transfer of sialic acid to cell surface proteins to modulate cell-cell interactions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016] See more...

Aliases for ST6GALNAC5 Gene

Aliases for ST6GALNAC5 Gene

  • ST6 N-Acetylgalactosaminide Alpha-2,6-Sialyltransferase 5 2 3 5
  • ST6GalNAcV 2 3 4
  • Sialyltransferase 7 ((Alpha-N-Acetylneuraminyl-2,3-Beta-Galactosyl-1,3)-N-Acetyl Galactosaminide Alpha-2,6-Sialyltransferase) E 2 3
  • ST6 (Alpha-N-Acetyl-Neuraminyl-2,3-Beta-Galactosyl-1,3)-N-Acetylgalactosaminide Alpha-2,6-Sialyltransferase 5 2 3
  • Alpha-N-Acetylgalactosaminide Alpha-2,6-Sialyltransferase 5 3 4
  • ST6 GalNAc Alpha-2,6-Sialyltransferase 5 2 3
  • GalNAc Alpha-2,6-Sialyltransferase V 3 4
  • Sialyltransferase 7E 3 4
  • GD1 Alpha Synthase 3 4
  • ST6GalNAc V 3 4
  • SIAT7-E 3 4
  • SIAT7E 3 4
  • Alpha-N-Acetylneuraminyl 2,3-Betagalactosyl-1,3)-N-Acetyl Galactosaminide Alpha-2,6-Sialyltransferase E 3
  • ST6 Neuraminyl-2,3-Beta-Galactosyl-1,3)-N-Acetylgalactosaminide Alpha-2,6-Sialyltransferase 5 3
  • Alpha-N-Acetylgalactosaminide Alpha-2,6-Sialyltransferase V 3
  • EC 2.4.99.7 51
  • EC 2.4.99.- 4
  • ST6GALNAC5 5
  • EC 2.4.99 51
  • MGC3184 2

External Ids for ST6GALNAC5 Gene

Previous HGNC Symbols for ST6GALNAC5 Gene

  • SIAT7E

Previous GeneCards Identifiers for ST6GALNAC5 Gene

  • GC01P077046
  • GC01P077333
  • GC01P075464

Summaries for ST6GALNAC5 Gene

Entrez Gene Summary for ST6GALNAC5 Gene

  • The protein encoded by this gene is a Golgi type II transmembrane glycosyltransferase. The encoded protein catalyzes the transfer of sialic acid to cell surface proteins to modulate cell-cell interactions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

GeneCards Summary for ST6GALNAC5 Gene

ST6GALNAC5 (ST6 N-Acetylgalactosaminide Alpha-2,6-Sialyltransferase 5) is a Protein Coding gene. Among its related pathways are Transport to the Golgi and subsequent modification and Glycosphingolipid biosynthesis - ganglio series. Gene Ontology (GO) annotations related to this gene include sialyltransferase activity and alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity. An important paralog of this gene is ENSG00000257524.

UniProtKB/Swiss-Prot Summary for ST6GALNAC5 Gene

  • Involved in the biosynthesis of ganglioside GD1a from GM1b. It exhibits higher activity with glycolipids than with glycoproteins (By similarity).

Additional gene information for ST6GALNAC5 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ST6GALNAC5 Gene

Genomics for ST6GALNAC5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ST6GALNAC5 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
GH01J076867 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 606.6 +1.5 1451 3.8 PRDM10 ZNF692 LARP7 ZIC2 ZSCAN4 POLR2A PATZ1 ZNF501 EZH2 CTCF ST6GALNAC5 piR-35398-002 PIGK
GH01J076919 Enhancer 0.5 FANTOM5 Ensembl 11.9 +52.0 51952 1.6 TEAD4 ST6GALNAC5 piR-30444-010 piR-33605-011 PIGK
GH01J076891 Enhancer 0.3 Ensembl 11.6 +25.7 25652 2.6 CEBPB piR-41245-012 ST6GALNAC5 piR-50357-004 PIGK
GH01J076433 Enhancer 0.3 Ensembl 6.7 -433.6 -433648 1.2 NFE2 FEZF1 ST6GALNAC5 AB372670-002 RF00017-250 ST6GALNAC3
GH01J076765 Enhancer 0.5 FANTOM5 4.3 -102.2 -102198 0.2 ZNF629 ZBTB20 ZFHX2 ZFP37 GATA2 ST6GALNAC5 LINC02567 RF00026-053 ST6GALNAC3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ST6GALNAC5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ST6GALNAC5

Top Transcription factor binding sites by QIAGEN in the ST6GALNAC5 gene promoter:
  • AML1a
  • AP-4
  • c-Myc
  • E47
  • GR
  • GR-alpha
  • GR-beta
  • Max
  • MyoD
  • Tal-1

Genomic Locations for ST6GALNAC5 Gene

Genomic Locations for ST6GALNAC5 Gene
chr1:76,867,449-77,069,167
(GRCh38/hg38)
Size:
201,719 bases
Orientation:
Plus strand
chr1:77,333,126-77,531,396
(GRCh37/hg19)
Size:
198,271 bases
Orientation:
Plus strand

Genomic View for ST6GALNAC5 Gene

Genes around ST6GALNAC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ST6GALNAC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ST6GALNAC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ST6GALNAC5 Gene

Proteins for ST6GALNAC5 Gene

  • Protein details for ST6GALNAC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BVH7-SIA7E_HUMAN
    Recommended name:
    Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5
    Protein Accession:
    Q9BVH7
    Secondary Accessions:
    • B1AK82

    Protein attributes for ST6GALNAC5 Gene

    Size:
    336 amino acids
    Molecular mass:
    38443 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ST6GALNAC5 Gene

Selected DME Specific Peptides for ST6GALNAC5 Gene

Q9BVH7:
  • HHRFITEKRVF
  • HRFITEK
  • LSTGWFT
  • TVFIFWGP
  • IRMNDAPT

Post-translational modifications for ST6GALNAC5 Gene

  • Glycosylation at Asn137 and Asn161
  • Modification sites at PhosphoSitePlus

Other Protein References for ST6GALNAC5 Gene

Domains & Families for ST6GALNAC5 Gene

Gene Families for ST6GALNAC5 Gene

Protein Domains for ST6GALNAC5 Gene

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

Suggested Antigen Peptide Sequences for ST6GALNAC5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55842, highly similar to Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (EC 2.4.99.-) (B4DHB7_HUMAN)
  • Sialyltransferase 7E (SIA7E_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BVH7

UniProtKB/Swiss-Prot:

SIA7E_HUMAN :
  • Belongs to the glycosyltransferase 29 family.
Family:
  • Belongs to the glycosyltransferase 29 family.
genes like me logo Genes that share domains with ST6GALNAC5: view

Function for ST6GALNAC5 Gene

Molecular function for ST6GALNAC5 Gene

UniProtKB/Swiss-Prot Function:
Involved in the biosynthesis of ganglioside GD1a from GM1b. It exhibits higher activity with glycolipids than with glycoproteins (By similarity).

Enzyme Numbers (IUBMB) for ST6GALNAC5 Gene

Phenotypes From GWAS Catalog for ST6GALNAC5 Gene

Gene Ontology (GO) - Molecular Function for ST6GALNAC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001665 alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity ISS --
GO:0008373 sialyltransferase activity IEA,ISS 12668675
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with ST6GALNAC5: view
genes like me logo Genes that share phenotypes with ST6GALNAC5: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ST6GALNAC5

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ST6GALNAC5 Gene

Localization for ST6GALNAC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ST6GALNAC5 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 ST6GALNAC5 gene
Compartment Confidence
golgi apparatus 5
extracellular 3
plasma membrane 2
endoplasmic reticulum 2
lysosome 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
cytosol 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ST6GALNAC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ST6GALNAC5: view

Pathways & Interactions for ST6GALNAC5 Gene

genes like me logo Genes that share pathways with ST6GALNAC5: view

UniProtKB/Swiss-Prot Q9BVH7-SIA7E_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for ST6GALNAC5 Gene

Gene Ontology (GO) - Biological Process for ST6GALNAC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001574 ganglioside biosynthetic process IBA 21873635
GO:0006486 protein glycosylation IEA --
GO:0006688 glycosphingolipid biosynthetic process ISS --
GO:0009311 oligosaccharide metabolic process IBA 21873635
GO:0009312 oligosaccharide biosynthetic process ISS 12668675
genes like me logo Genes that share ontologies with ST6GALNAC5: view

No data available for SIGNOR curated interactions for ST6GALNAC5 Gene

Drugs & Compounds for ST6GALNAC5 Gene

No Compound Related Data Available

Transcripts for ST6GALNAC5 Gene

mRNA/cDNA for ST6GALNAC5 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 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 ST6GALNAC5

Alternative Splicing Database (ASD) splice patterns (SP) for ST6GALNAC5 Gene

No ASD Table

Relevant External Links for ST6GALNAC5 Gene

GeneLoc Exon Structure for
ST6GALNAC5

Expression for ST6GALNAC5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ST6GALNAC5 Gene

mRNA differential expression in normal tissues according to GTEx for ST6GALNAC5 Gene

This gene is overexpressed in Brain - Hippocampus (x6.1), Brain - Frontal Cortex (BA9) (x5.3), Brain - Anterior cingulate cortex (BA24) (x4.4), and Brain - Cortex (x4.3).

Protein differential expression in normal tissues from HIPED for ST6GALNAC5 Gene

This gene is overexpressed in Vitreous humor (68.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ST6GALNAC5 Gene



Protein tissue co-expression partners for ST6GALNAC5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ST6GALNAC5

SOURCE GeneReport for Unigene cluster for ST6GALNAC5 Gene:

Hs.303609

Evidence on tissue expression from TISSUES for ST6GALNAC5 Gene

  • Nervous system(4.3)
  • Eye(4.3)
  • Lung(2.1)
  • Intestine(2)
genes like me logo Genes that share expression patterns with ST6GALNAC5: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ST6GALNAC5 Gene

Orthologs for ST6GALNAC5 Gene

This gene was present in the common ancestor of animals.

Orthologs for ST6GALNAC5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SIAT7E 31
  • 100 (a)
OneToOne
ST6GALNAC5 30
  • 99.6 (n)
Cow
(Bos Taurus)
Mammalia ST6GALNAC5 30 31
  • 92.85 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ST6GALNAC5 30 31
  • 91.27 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia St6galnac5 30
  • 89.25 (n)
Mouse
(Mus musculus)
Mammalia St6galnac5 30 17 31
  • 89.15 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ST6GALNAC5 31
  • 82 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ST6GALNAC5 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ST6GALNAC5 30
  • 77.51 (n)
SIAT7E 31
  • 73 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ST6GALNAC5 31
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia st6galnac5 30
  • 73.38 (n)
Zebrafish
(Danio rerio)
Actinopterygii st6galnac5a 30 31
  • 70.11 (n)
OneToMany
st6galnac5b 31
  • 63 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1875 30
Fruit Fly
(Drosophila melanogaster)
Insecta ST6Gal 31
  • 13 (a)
OneToMany
Species where no ortholog for ST6GALNAC5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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 ST6GALNAC5 Gene

ENSEMBL:
Gene Tree for ST6GALNAC5 (if available)
TreeFam:
Gene Tree for ST6GALNAC5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ST6GALNAC5: view image

Paralogs for ST6GALNAC5 Gene

(3) SIMAP similar genes for ST6GALNAC5 Gene using alignment to 3 proteins:

  • SIA7E_HUMAN
  • F2Z2C8_HUMAN
  • V5N4G2_HUMAN
genes like me logo Genes that share paralogs with ST6GALNAC5: view

Variants for ST6GALNAC5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ST6GALNAC5 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
780770 Benign: not provided 76,868,492(+) C/T INTRON_VARIANT
784950 Benign: not provided 77,044,323(+) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ST6GALNAC5 Gene

Structural Variations from Database of Genomic Variants (DGV) for ST6GALNAC5 Gene

Variant ID Type Subtype PubMed ID
dgv113e59 CNV duplication 20981092
dgv114e59 CNV tandem duplication 20981092
dgv200n100 CNV gain 25217958
esv2663416 CNV deletion 23128226
esv2667776 CNV deletion 23128226
esv2676599 CNV deletion 23128226
esv2750141 CNV deletion 23290073
esv2762156 CNV loss 21179565
esv3581804 CNV gain 25503493
esv3586510 CNV loss 21293372
esv3586511 CNV loss 21293372
esv3586513 CNV loss 21293372
esv3893734 CNV loss 25118596
nsv1003386 CNV gain 25217958
nsv1005649 CNV loss 25217958
nsv1129462 CNV tandem duplication 24896259
nsv1510 CNV insertion 18451855
nsv478984 CNV novel sequence insertion 20440878
nsv820187 CNV gain 19587683
nsv830292 CNV loss 17160897

Variation tolerance for ST6GALNAC5 Gene

Residual Variation Intolerance Score: 19.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.04; 68.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ST6GALNAC5 Gene

Human Gene Mutation Database (HGMD)
ST6GALNAC5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ST6GALNAC5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ST6GALNAC5 Gene

Disorders for ST6GALNAC5 Gene

Additional Disease Information for ST6GALNAC5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for ST6GALNAC5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ST6GALNAC5 Gene

Publications for ST6GALNAC5 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Synthesis of disialyl Lewis a (Le(a)) structure in colon cancer cell lines by a sialyltransferase, ST6GalNAc VI, responsible for the synthesis of alpha-series gangliosides. (PMID: 12668675) Tsuchida A … Furukawa K (The Journal of biological chemistry 2003) 3 23
  5. A novel glycosyltransferase with a polyglutamine repeat; a new candidate for GD1alpha synthase (ST6GalNAc V)(1). (PMID: 10601645) Ikehara Y … Tatematsu M (FEBS letters 1999) 2 3

Products for ST6GALNAC5 Gene

Sources for ST6GALNAC5 Gene