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

Gene ID: 81849, updated on 12-Oct-2019

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
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

Genomic context

See ST6GALNAC5 in Genome Data Viewer
Location:
1p31.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (76867449..77069167)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (77333126..77533223)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 161, pseudogene Neighboring gene long intergenic non-protein coding RNA 2567 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: 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

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3184

Gene Ontology Provided by GOA

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

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)

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
    Q9BVH7
    Related
    ENSP00000417583.1, ENST00000477717.6
    Conserved Domains (1) summary
    pfam00777
    Location:92275
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    76867449..77069167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001737460.2 RNA Sequence

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