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

    Gene ID: 6480, updated on 28-Oct-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ST6GAL1 in Genome Data Viewer
    Location:
    3q27.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (186930526..187078553)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (189748335..189896308)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (186648315..186796341)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:186626722-186627417 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:186627418-186628112 Neighboring gene ribosomal protein S20 pseudogene 14 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:186647930-186648538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20947 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:186659211-186659712 Neighboring gene ribosomal protein L29 pseudogene 9 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:186673829-186674071 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:186674568-186675068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:186681641-186682220 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:186693287-186694168 Neighboring gene uncharacterized LOC124906314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20949 Neighboring gene Sharpr-MPRA regulatory region 11729 Neighboring gene Sharpr-MPRA regulatory region 4195 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20951 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:186716158-186717048 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:186717049-186717939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20958 Neighboring gene ST6GAL1 promoter P2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20959 Neighboring gene ST6GAL1 promoter P1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20963 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14993 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:186789896-186790855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:186854800-186855300 Neighboring gene ribosomal protein L39 pseudogene 19 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:186856490-186856996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14994 Neighboring gene ribosomal protein L39 like Neighboring gene NANOG hESC enhancer GRCh37_chr3:186888631-186889132 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:186892851-186893682 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:186893683-186894513 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:186894725-186895400 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:186898085-186898586 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:186898587-186899086 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:186899087-186899588 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:186900591-186901090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:186901091-186901592 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:186903095-186904094 Neighboring gene uncharacterized LOC101929106 Neighboring gene receptor transporter protein 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    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

    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
     
    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 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)

    NEW Try the new Transcript table

    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
      A8KA14, B2R513, D3DNV3, P15907
      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
      A8KA14, B2R513, 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
      A8KA14, B2R513, 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: 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_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)