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

Gene ID: 81849, updated on 10-Dec-2024

Summary

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

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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

General gene information

Clone Names

  • MGC3184

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in ganglioside biosynthetic process  
involved_in glycosphingolipid biosynthetic process  
involved_in glycosphingolipid biosynthetic process  
involved_in oligosaccharide biosynthetic process PubMed 
involved_in oligosaccharide metabolic process  
involved_in protein glycosylation  
Component Evidence Code Pubs
located_in Golgi membrane  

General protein information

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_001320273.2NP_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_001320274.2NP_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_030965.3NP_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:92275
    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)
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