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ST6GALNAC5 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 [ Homo sapiens (human) ]

Gene ID: 81849, updated on 2-Nov-2024

Summary

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Official Symbol
ST6GALNAC5provided by HGNC
Official Full Name
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5provided by HGNC
Primary source
HGNC:HGNC:19342
See related
Ensembl:ENSG00000117069 MIM:610134; AllianceGenome:HGNC:19342
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SIAT7E; SIAT7-E; ST6GalNAcV
Summary
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]
Expression
Biased expression in lung (RPKM 3.9), brain (RPKM 3.0) and 13 other tissues See more
Orthologs
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Genomic context

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See ST6GALNAC5 in Genome Data Viewer
Location:
1p31.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (76867480..77067546)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (76705077..76905729)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (77333165..77533231)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr1:77231962-77232537 Neighboring gene RNA, U6 small nuclear 161, pseudogene Neighboring gene long intergenic non-protein coding RNA 2567 Neighboring gene MPRA-validated peak293 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:77319872-77320409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1212 Neighboring gene NANOG hESC enhancer GRCh37_chr1:77365662-77366201 Neighboring gene NANOG hESC enhancer GRCh37_chr1:77426151-77426652 Neighboring gene MPRA-validated peak295 silencer Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:77463853-77465052 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:77489814-77490314 Neighboring gene MPRA-validated peak297 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1213 Neighboring gene microRNA 7156 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class K Neighboring gene ribosomal protein L17 pseudogene 6 Neighboring gene alanyl-tRNA synthetase domain containing 1 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mutation in ST6GALNAC5 identified in family with coronary artery disease. InanlooRahatloo K, et al. Sci Rep, 2014 Jan 8. PMID 24399302, Free PMC Article
  2. A novel glycosyltransferase with a polyglutamine repeat; a new candidate for GD1alpha synthase (ST6GalNAc V)(1). Ikehara Y, et al. FEBS Lett, 1999 Dec 10. PMID 10601645
  3. Molecular cloning of brain-specific GD1alpha synthase (ST6GalNAc V) containing CAG/Glutamine repeats. Okajima T, et al. J Biol Chem, 1999 Oct 22. PMID 10521438
  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. Tsuchida A, et al. J Biol Chem, 2003 Jun 20. PMID 12668675
  5. Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. Xie T, et al. Neurobiol Aging, 2014 Jul. PMID 24529757

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Sequence data from combined Iranian and US controls and CAD affected individuals provided evidence consistent with potential role of ST6GALNAC5 in coronary artery disease
    Title: Mutation in ST6GALNAC5 identified in family with coronary artery disease.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC3184

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity TAS
Traceable Author Statement
more info
  
enables sialyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
Process Evidence Code Pubs
involved_in ganglioside biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glycosphingolipid biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in glycosphingolipid biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in oligosaccharide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in oligosaccharide metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein glycosylation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5
Names
GD1 alpha synthase
GalNAc alpha-2,6-sialyltransferase V
ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5
ST6 GalNAc alpha-2,6-sialyltransferase 5
ST6 neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5
ST6GalNAc V
alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase V
alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase E
sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E
sialyltransferase 7E
NP_001307202.1
NP_001307203.1
NP_112227.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001320273.2 → NP_001307202.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK300902, AL035409, BU742124, DC358960
    UniProtKB/TrEMBL
    B4DV27

  2. NM_001320274.2 → NP_001307203.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate exons compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL035409, BU742124, DA166913, DC358960

  3. NM_030965.3 → NP_112227.1  alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 isoform 1

    See identical proteins and their annotated locations for NP_112227.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK056241, AL035409, BU742124
    Consensus CDS
    CCDS673.1
    UniProtKB/Swiss-Prot
    B1AK82, Q9BVH7
    Related
    ENSP00000417583.1, ENST00000477717.6
    Conserved Domains (1) summary
    pfam00777
    Location:92 → 275
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    76867480..77067546
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    76705077..76905729
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BVH7.1 GenPept UniProtKB/Swiss-Prot:Q9BVH7

Gene LinkOut

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