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ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 6480, updated on 22-Sep-2022

Summary

Official Symbol
ST6GAL1provided by HGNC
Official Full Name
ST6 beta-galactoside alpha-2,6-sialyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:10860
See related
Ensembl:ENSG00000073849 MIM:109675; AllianceGenome:HGNC:10860
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
ST6N; CDw75; SIAT1; ST6GalI
Summary
This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
Expression
Broad expression in liver (RPKM 87.7), lymph node (RPKM 37.8) and 18 other tissues See more
Orthologs
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Genomic context

See ST6GAL1 in Genome Data Viewer
Location:
3q27.3
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (186930526..187078553)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (189748335..189896308)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (186648315..186796341)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S20 pseudogene 14 Neighboring gene ribosomal protein L29 pseudogene 9 Neighboring gene uncharacterized LOC124906314 Neighboring gene Sharpr-MPRA regulatory region 11729 Neighboring gene Sharpr-MPRA regulatory region 4195 Neighboring gene ST6GAL1 promoter P2 Neighboring gene ST6GAL1 promoter P1 Neighboring gene ribosomal protein L39 pseudogene 19 Neighboring gene ribosomal protein L39 like Neighboring gene uncharacterized LOC101929106 Neighboring gene receptor transporter protein 1

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.
EBI GWAS Catalog
Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci.
EBI GWAS Catalog
Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder.
EBI GWAS Catalog
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
EBI GWAS Catalog
HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin.
EBI GWAS Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC48859

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
 
located_in Golgi medial cisterna IEA
Inferred from Electronic Annotation
more info
 
located_in Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in Golgi membrane TAS
Traceable Author Statement
more info
 
located_in Golgi trans cisterna IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
beta-galactoside alpha-2,6-sialyltransferase 1
Names
B-cell antigen CD75
CMP-N-acetylneuraminate beta-galactosamide alpha-2,6-sialyltransferase
CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,6-sialyltransferase 1
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1
ST6 beta-galactosamide alpha-2,6-sialyltranferase 1
alpha 2,6-ST 1
sialyltransferase 1 (beta-galactoside alpha-2,6-sialyltransferase)
NP_001340845.1
NP_003023.1
NP_775323.1
NP_775324.1

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_001353916.2NP_001340845.1  beta-galactoside alpha-2,6-sialyltransferase 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 4 encode the same protein (isoform a).
    Source sequence(s)
    AC007488, AC007690
    Consensus CDS
    CCDS3285.1
    UniProtKB/Swiss-Prot
    D3DNV3
    Related
    ENSP00000504448.1, ENST00000676633.1
    Conserved Domains (1) summary
    pfam00777
    Location:169384
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  2. NM_003032.3NP_003023.1  beta-galactoside alpha-2,6-sialyltransferase 1 isoform a

    See identical proteins and their annotated locations for NP_003023.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. The promoter and 5' terminal exon sequence is from an endogenous retroviral LTR (PMID: 8724135). Variant 2 is expressed in mature B lymphocytes and variants 1, 2 and 4 encode the same protein (isoform a).
    Source sequence(s)
    AC007488, AC007690
    Consensus CDS
    CCDS3285.1
    UniProtKB/Swiss-Prot
    D3DNV3, P15907
    Related
    ENSP00000389337.1, ENST00000448044.5
    Conserved Domains (1) summary
    pfam00777
    Location:169384
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  3. NM_173216.2NP_775323.1  beta-galactoside alpha-2,6-sialyltransferase 1 isoform a

    See identical proteins and their annotated locations for NP_775323.1

    Status: REVIEWED

    Source sequence(s)
    AC007488, AC007690, DB152155, X17247
    Consensus CDS
    CCDS3285.1
    UniProtKB/Swiss-Prot
    D3DNV3, P15907
    Related
    ENSP00000169298.3, ENST00000169298.8
    Conserved Domains (1) summary
    pfam00777
    Location:169384
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)
  4. NM_173217.2NP_775324.1  beta-galactoside alpha-2,6-sialyltransferase 1 isoform b

    See identical proteins and their annotated locations for NP_775324.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks the exon containing the translation start site compared to variant 1, resulting in an isoform (b) with a shorter N-terminus compared to isoform a. Isoform b is likely to be a soluble rather than membrane-bound protein.
    Source sequence(s)
    AC007488, BC040009, DB152155, DB235666
    Consensus CDS
    CCDS46973.1
    UniProtKB/Swiss-Prot
    P15907
    Related
    ENSP00000412221.2, ENST00000457772.6
    Conserved Domains (1) summary
    pfam00777
    Location:24153
    Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    186930526..187078553
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    189748335..189896308
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)