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Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ike... See more...
Aliases for ST6GALNAC1 Gene
Aliases for ST6GALNAC1 Gene
- ST6 N-Acetylgalactosaminide Alpha-2,6-Sialyltransferase 1 2 3 5
- ST6GalNAcI 2 3 4
- Sialyltransferase 7 ((Alpha-N-Acetylneuraminyl-2,3-Beta-Galactosyl-1,3)-N-Acetyl Galactosaminide Alpha-2,6-Sialyltransferase) A 2 3
- ST6 (Alpha-N-Acetyl-Neuraminyl-2,3-Beta-Galactosyl-1,3)-N-Acetylgalactosaminide Alpha-2,6-Sialyltransferase 1 2 3
- Alpha-N-Acetylgalactosaminide Alpha-2,6-Sialyltransferase 1 3 4
- ST6 GalNAc Alpha-2,6-Sialyltransferase 1 2 3
- GalNAc Alpha-2,6-Sialyltransferase I 3 4
- Sialyltransferase 7A 3 4
External Ids for ST6GALNAC1 Gene
- HGNC: 23614
- NCBI Entrez Gene: 55808
- Ensembl: ENSG00000070526
- OMIM®: 610138
- UniProtKB/Swiss-Prot: Q9NSC7
Previous HGNC Symbols for ST6GALNAC1 Gene
- SIAT7A
Previous GeneCards Identifiers for ST6GALNAC1 Gene
- GC17M072133
- GC17M074620
- GC17M070050
Summaries for ST6GALNAC1 Gene
-
Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM, Mar 2008]
GeneCards Summary for ST6GALNAC1 Gene
ST6GALNAC1 (ST6 N-Acetylgalactosaminide Alpha-2,6-Sialyltransferase 1) is a Protein Coding gene. Diseases associated with ST6GALNAC1 include Hypermethioninemia Due To Adenosine Kinase Deficiency. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. 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 ST6GALNAC2.
Additional gene information for ST6GALNAC1 Gene
- HGNC (23614)
- NCBI Entrez Gene (55808)
- Ensembl (ENSG00000070526)
- OMIM® (610138)
- UniProtKB/Swiss-Prot (Q9NSC7)
- Open Targets Platform(ENSG00000070526)
- Search for ST6GALNAC1 at DataMed
- Search for ST6GALNAC1 at HumanCyc
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ST6GALNAC1 Gene
Genomics for ST6GALNAC1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ST6GALNAC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ST6GALNAC1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ST6GALNAC1
- Top Transcription factor binding sites by QIAGEN in the ST6GALNAC1 gene promoter:
-
- GR-alpha
- GR-beta
- Ik-1
- Nkx3-1
- Nkx3-1 v1
- Nkx3-1 v2
- Nkx3-1 v3
- Nkx3-1 v4
- RORalpha2
- Zic1
Genomic Locations for ST6GALNAC1 Gene
Latest Assembly
- chr17:76,617,769-76,643,786
- (GRCh38/hg38)
- Size:
- 26,018 bases
- Orientation:
- Minus strand
Previous Assembly
- chr17:74,620,845-74,639,839
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 18,995 bases
- Orientation:
- Minus strand
- chr17:74,620,843-74,639,920
- (GRCh37/hg19 by Ensembl)
- Size:
- 19,078 bases
- Orientation:
- Minus strand
Genomic View for ST6GALNAC1 Gene
Genes around ST6GALNAC1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q25.1 by HGNC
- 17q25.1 by Entrez Gene
- 17q25.1 by Ensembl
ST6GALNAC1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ST6GALNAC1 Gene
Proteins for ST6GALNAC1 Gene
-
Protein details for ST6GALNAC1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NSC7-SIA7A_HUMAN
- Recommended name:
- Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1
- Protein Accession:
- Q9NSC7
- Q6UW90
- Q9NSC6
Protein attributes for ST6GALNAC1 Gene
- Size:
- 600 amino acids
- Molecular mass:
- 68564 Da
- Quaternary structure:
- No Data Available
Protein Expression for ST6GALNAC1 Gene
Post-translational modifications for ST6GALNAC1 Gene
Other Protein References for ST6GALNAC1 Gene
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for ST6GALNAC1
- Novus Biologicals Antibodies for ST6GALNAC1
- Invitrogen Antibodies for ST6GALNAC1 (AFLGC-ST6GALNAC1)
Protein products for research
-
OriGene Purified Proteins for ST6GALNAC1
- Search Origene for MassSpec and Protein Over-expression Lysates for ST6GALNAC1
- Origene Custom Protein Services for ST6GALNAC1
- antibodies-online: Show 6 available ST6GALNAC1 Proteins ranked by validation data
- Compare Top ST6GALNAC1 Proteins
-
Quality Products:
-
Abcam proteins for ST6GALNAC1
Assay products for research
No data available for DME Specific Peptides for ST6GALNAC1 Gene
Domains & Families for ST6GALNAC1 Gene
Gene Families for ST6GALNAC1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for ST6GALNAC1 Gene
- InterPro:
- Blocks:
-
- Glycosyl transferase, family 29
- ProtoNet:
Suggested Antigen Peptide Sequences for ST6GALNAC1 Gene
- GenScript: Design optimal peptide antigens:
-
- ST6GALNAC1 protein (Q8TBJ6_HUMAN)
- Sialyltransferase 7A (SIA7A_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9NSC7- Family:
-
- Belongs to the glycosyltransferase 29 family.
Function for ST6GALNAC1 Gene
Molecular function for ST6GALNAC1 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a beta-D-galactosyl-(1->3)-N-acetyl-alpha-D-galactosaminyl derivative + CMP-N-acetyl-beta-neuraminate = a beta-D-galactosyl-(1->3)-[N-acetyl-alpha-neuraminyl-(2->6)]-N-acetyl-alpha-D-galactosaminyl derivative + CMP + H(+); Xref=Rhea:RHEA:11136, ChEBI:CHEBI:15378, ChEBI:CHEBI:57812, ChEBI:CHEBI:60377, ChEBI:CHEBI:133470, ChEBI:CHEBI:140764; EC=2.4.99.3;.
Enzyme Numbers (IUBMB) for ST6GALNAC1 Gene
Phenotypes From GWAS Catalog for ST6GALNAC1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001665 | alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity | IEA,IBA | 21873635 |
| GO:0008373 | sialyltransferase activity | IEA,NAS | 10536037 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
Phenotypes for ST6GALNAC1 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ST6GALNAC1 - Starting at $85 >
- * ST6GALNAC1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ST6GALNAC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ST6GALNAC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ST6GALNAC1
miRNA for ST6GALNAC1 Gene
- miRTarBase miRNAs that target ST6GALNAC1
-
- hsa-miR-335-5p (MIRT016766)
- mmu-miR-3473c (MIRT585760)
- mmu-miR-343 (MIRT585761)
- mmu-miR-1b-5p (MIRT597163)
- mmu-miR-466i-3p (MIRT603282)
- mmu-miR-362-3p (MIRT603283)
- mmu-miR-329-3p (MIRT603284)
- hsa-miR-4652-3p (MIRT650921)
- hsa-miR-4743-3p (MIRT650922)
- hsa-miR-3686 (MIRT650923)
- hsa-miR-3607-3p (MIRT650924)
- hsa-miR-4673 (MIRT650925)
- hsa-miR-4645-5p (MIRT650926)
- hsa-miR-484 (MIRT650927)
- hsa-miR-3155b (MIRT650928)
- hsa-miR-3155a (MIRT650929)
- hsa-miR-605-5p (MIRT650930)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ST6GALNAC1
- Browse OriGene Inhibitory RNA Products For ST6GALNAC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ST6GALNAC1
Clone products for research
- Applied Biological Materials (abm): Clones for ST6GALNAC1 - Starting at $45 >
- * ST6GALNAC1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ST6GALNAC1
- Addgene plasmids for ST6GALNAC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ST6GALNAC1
Cell Lines for research
-
Horizon Cell Lines for ST6GALNAC1
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ST6GALNAC1 Gene
Localization for ST6GALNAC1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ST6GALNAC1 Gene
- Golgi apparatus membrane. Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| extracellular | 3 |
| plasma membrane | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| peroxisome | 0 |
- Golgi apparatus (2)
- Nucleoplasm (2)
| 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 | -- |
Pathways & Interactions for ST6GALNAC1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Synthesis of substrates in N-glycan biosythesis | ||
| 2 | Metabolism of proteins | ||
| 3 | Metabolism | ||
| 4 | Mucin type O-glycan biosynthesis | ||
| 5 | Transport to the Golgi and subsequent modification | ||
Pathways by source for ST6GALNAC1 Gene
1 BioSystems pathway for ST6GALNAC1 Gene
2 KEGG pathways for ST6GALNAC1 Gene
UniProtKB/Swiss-Prot Q9NSC7-SIA7A_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for ST6GALNAC1 Gene
Selected Interacting proteins:
ENSP00000156626
Q9NSC7-SIA7A_HUMAN
for ST6GALNAC1 Gene via
STRING
IID
GPS-Prot Interaction Network for ST6GALNAC1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006486 | protein glycosylation | IEA,NAS | 10536037 |
| GO:0009312 | oligosaccharide biosynthetic process | IEA | -- |
| GO:0097503 | sialylation | IEA | -- |
No data available for SIGNOR curated interactions for ST6GALNAC1 Gene
Drugs & Compounds for ST6GALNAC1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Cytidine monophosphate | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Cytidine 5'-monophosphate-N-acetylneuraminic acid |
|
3063-71-6 |
|
Transcripts for ST6GALNAC1 Gene
mRNA/cDNA for ST6GALNAC1 Gene
- 2 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000156626 2489 nts (view in UCSC)
- ENST00000359088 2321 nts (view in UCSC)
- ENST00000585633 667 nts (view in UCSC)
- ENST00000588375 633 nts (view in UCSC)
- ENST00000589004 758 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ST6GALNAC1 - Starting at $85 >
- * ST6GALNAC1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ST6GALNAC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ST6GALNAC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ST6GALNAC1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ST6GALNAC1
- Browse OriGene Inhibitory RNA Products For ST6GALNAC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ST6GALNAC1
Clone products for research
- Applied Biological Materials (abm): Clones for ST6GALNAC1 - Starting at $45 >
- * ST6GALNAC1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ST6GALNAC1
- Addgene plasmids for ST6GALNAC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ST6GALNAC1
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP7: | - |
Relevant External Links for ST6GALNAC1 Gene
- GeneLoc Exon Structure for
- ST6GALNAC1
Expression for ST6GALNAC1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for ST6GALNAC1 Gene
This gene is overexpressed in Colon - Transverse (x18.9), Stomach (x6.4), and Small Intestine - Terminal Ileum (x5.4).
This gene is overexpressed in Serum (33.8), Cervix (7.2), and Oral epithelium (7.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ST6GALNAC1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ST6GALNAC1
SOURCE GeneReport for Unigene cluster for ST6GALNAC1 Gene:
Hs.105352Evidence on tissue expression from TISSUES for ST6GALNAC1 Gene
- Intestine(3.4)
- Stomach(2.4)
- Kidney(2.1)
Primer products for research
-
OriGene qPCR primer pairs for ST6GALNAC1
Gene Expression Assays for research
No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ST6GALNAC1 Gene
Orthologs for ST6GALNAC1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ST6GALNAC1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ST6GALNAC1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | St6galnac1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | St6galnac1 30 17 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ST6GALNAC1 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ST6GALNAC1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ST6GALNAC1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ST6GALNAC1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | st6galnac1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | st6galnac1.1 30 31 |
|
OneToMany | |
| st6galnac1.2 31 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4378 31 |
|
OneToMany |
- Species where no ortholog for ST6GALNAC1 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)
- 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)
- Oppossum (Monodelphis domestica)
- 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 Vase (Ciona intestinalis)
- 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 ST6GALNAC1 Gene
- ENSEMBL:
- Gene Tree for ST6GALNAC1 (if available)
- TreeFam:
- Gene Tree for ST6GALNAC1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ST6GALNAC1: view image
Paralogs for ST6GALNAC1 Gene
Paralogs for ST6GALNAC1 Gene
(2) SIMAP similar genes for ST6GALNAC1 Gene using alignment to 7 proteins:
- SIA7A_HUMAN
- G3XAD9_HUMAN
- K7EJA8_HUMAN
- K7EJC9_HUMAN
- K7ELU9_HUMAN
- K7EMB6_HUMAN
- Q8TBJ6_HUMAN
Variants for ST6GALNAC1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ST6GALNAC1 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs146032525 | Benign: not provided | 76,629,224(-) |
T/G NM_018414.5(ST6GALNAC1):c.619A>C (p.Thr207Pro) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| rs146469768 | Likely Benign: not provided | 76,629,223(-) |
G/A NM_018414.5(ST6GALNAC1):c.620C>T (p.Thr207Ile) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| rs35948039 | - |
p.Ile424Val |
|||
| rs8077382 | - |
p.Val80Ala |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv588e214 | CNV | loss | 21293372 |
| esv2671702 | CNV | deletion | 23128226 |
| esv2716257 | CNV | deletion | 23290073 |
| esv3305624 | CNV | mobile element insertion | 20981092 |
| esv3331560 | CNV | insertion | 20981092 |
| esv3641295 | CNV | gain | 21293372 |
| nsv1058486 | CNV | gain | 25217958 |
| nsv1060182 | CNV | gain | 25217958 |
| nsv518385 | CNV | gain | 19592680 |
| nsv820158 | CNV | gain | 19587683 |
Residual Variation Intolerance Score:
70.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.68;
46.08% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ST6GALNAC1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- ST6GALNAC1
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ST6GALNAC1 Gene
Disorders for ST6GALNAC1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypermethioninemia due to adenosine kinase deficiency |
|
|
Search ST6GALNAC1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ST6GALNAC1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for ST6GALNAC1 Gene
Publications for ST6GALNAC1 Gene
- Expression of sialyl-Tn antigen in breast cancer cells transfected with the human CMP-Neu5Ac: GalNAc alpha2,6-sialyltransferase (ST6GalNac I) cDNA. (PMID: 12820722) Julien S … Delannoy P (Glycoconjugate journal 2001) 3 4 23
- Cloning and expression of a human gene encoding an N-acetylgalactosamine-alpha2,6-sialyltransferase (ST6GalNAc I): a candidate for synthesis of cancer-associated sialyl-Tn antigens. (PMID: 10536037) Ikehara Y … Narimatsu H (Glycobiology 1999) 3 4 23
- 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
- The ST6GalNAc-I sialyltransferase localizes throughout the Golgi and is responsible for the synthesis of the tumor-associated sialyl-Tn O-glycan in human breast cancer. (PMID: 16319059) Sewell R … Taylor-Papadimitriou J (The Journal of biological chemistry 2006) 3 23
- The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4
Products for ST6GALNAC1 Gene
- Custom Antibody ServicesOriGene Antibodies for ST6GALNAC1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for ST6GALNAC1
- Search Origene for MassSpec and Protein Over-expression Lysates for ST6GALNAC1
- Origene Custom Protein Services for ST6GALNAC1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ST6GALNAC1
- Browse OriGene Inhibitory RNA Products For ST6GALNAC1
- OriGene qPCR primer pairs for ST6GALNAC1
- OriGene CRISPR knockouts for ST6GALNAC1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ST6GALNAC1
- Sino Biological Human cDNA Clone for ST6GALNAC1
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for ST6GALNAC1
- Novus Biologicals proteins and lysates for ST6GALNAC1
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- Abcam proteins for ST6GALNAC1
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- Invitrogen Antibodies for ST6GALNAC1 (AFLGC-ST6GALNAC1)
- VectorBuilder Custom and pre-made DNA vectors for ST6GALNAC1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for ST6GALNAC1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for ST6GALNAC1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for ST6GALNAC1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for ST6GALNAC1
- Addgene plasmids for ST6GALNAC1
- antibodies-online: Show 14 available ST6GALNAC1 Antibodies ranked by validation data
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- antibodies-online: Search results for available ST6GALNAC1 related products ranked by validation data
- antibodies-online: Show 6 available ST6GALNAC1 Proteins ranked by validation data
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- Browse Santa Cruz Biotechnology (SCBT) Antibodies
- Search Santa Cruz Biotechnology (SCBT) for ST6GALNAC1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ST6GALNAC1
- Horizon Cell Lines for ST6GALNAC1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ST6GALNAC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ST6GALNAC1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ST6GALNAC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ST6GALNAC1
Sources for ST6GALNAC1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB