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    ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 [ Homo sapiens (human) ]

    Gene ID: 27090, updated on 22-Apr-2024

    Summary

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    Official Symbol
    ST6GALNAC4provided by HGNC
    Official Full Name
    ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4provided by HGNC
    Primary source
    HGNC:HGNC:17846
    See related
    Ensembl:ENSG00000136840 MIM:606378; AllianceGenome:HGNC:17846
    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
    IV; SIAT3C; SIAT7D; SIAT3-C; SIAT7-D; ST6GalNAc; ST6GALNACIV
    Summary
    The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein prefers glycoproteins rather than glycolipids as substrates and shows restricted substrate specificity, utilizing only the trisaccharide sequence Neu5Ac-alpha-2,3-Gal-beta-1,3-GalNAc. In addition, it is involved in the synthesis of ganglioside GD1A from GM1B. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Transcript variants encoding different isoforms have been found for this gene. Readthrough transcripts exist for this gene and the downstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022]
    Expression
    Ubiquitous expression in bone marrow (RPKM 14.6), spleen (RPKM 9.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    9q34.11
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (127907886..127917041, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (140115658..140124816, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (130670165..130679320, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ST6GALNAC4-ST6GALNAC6-AK1 readthrough Neighboring gene microRNA 4672 Neighboring gene adenylate kinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130645163-130645663 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130646401-130647398 Neighboring gene ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130658469-130659290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20314 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130660112-130660932 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130660933-130661753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29057 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:130667147-130667673 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130667812-130668411 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29058 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29060 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20317 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:130685680-130686879 Neighboring gene phosphatidylinositol-4-phosphate 5-kinase like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130688781-130689504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130689505-130690228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130690229-130690952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130691676-130692399 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20318 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130693123-130693846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130696662-130697162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:130697163-130697663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29062 Neighboring gene dolichyl-phosphate mannosyltransferase subunit 2, regulatory

    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
    • 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. ST6GALNAC4 promotes hepatocellular carcinogenesis by inducing abnormal glycosylation. Man D, et al. J Transl Med, 2023 Jun 29. PMID 37381011, Free PMC Article
    2. Identification of gangliosides recognized by IgG anti-GalNAc-GD1a antibodies in bovine spinal motor neurons and motor nerves. Yoshino H, et al. Brain Res, 2008 Aug 28. PMID 18598683
    3. Genomic structure and promoter analysis of human NeuAc alpha2,3Gal beta1,3GalNAc alpha2,6-sialyltransferase (hST6GalNAc IV) gene. Kim SW, et al. Gene, 2003 Feb 13. PMID 12594047
    4. miR-4299 mediates the invasive properties and tumorigenicity of human follicular thyroid carcinoma by targeting ST6GALNAC4. Miao X, et al. IUBMB Life, 2016 Feb. PMID 26715099
    5. Cloning, expression and gene organization of a human Neu5Ac alpha 2-3Gal beta 1-3GalNAc alpha 2,6-sialyltransferase: hST6GalNAcIV. Harduin-Lepers A, et al. Biochem J, 2000 Nov 15. PMID 11062056, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human ST3Gal II and ST6GalNAc IV genes increase human serum-mediated cytotoxicity to xenogeneic cells.
      Title: Human ST3Gal II and ST6GalNAc IV genes increase human serum-mediated cytotoxicity to xenogeneic cells.
    2. ST6GALNAC4 promotes hepatocellular carcinogenesis by inducing abnormal glycosylation.
      Title: ST6GALNAC4 promotes hepatocellular carcinogenesis by inducing abnormal glycosylation.
    3. This study implies the potential therapeutic application of miR-4299 and ST6GALNAC4 in modulating the invasion and tumorigenicity of follicular thyroid carcinoma cell
      Title: miR-4299 mediates the invasive properties and tumorigenicity of human follicular thyroid carcinoma by targeting ST6GALNAC4.
    4. Data show that serum from a patient with axonal Guillain-Barre syndrome (GBS) with IgG anti-GalNAc-GD1a antibody yielded positive immunostaining with X1, X2, and X3.
      Title: Identification of gangliosides recognized by IgG anti-GalNAc-GD1a antibodies in bovine spinal motor neurons and motor nerves.
    5. Sp1 and MZF1 are involved in the transcriptional regulation of the hST6GalNAc IV gene in Jurkat T cells
      Title: Regulatory elements involved in transcription of the human NeuAcalpha2,3Galbeta1,3GalNAcalpha2,6-sialyltransferase (hST6GalNAc IV) gene.
    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

    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

    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 TAS
    Traceable Author Statement
    more info
    		  
    enables alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables sialyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in O-glycan processing TAS
    Traceable Author Statement
    more info
    		  
    involved_in ganglioside biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glycolipid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in oligosaccharide metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in viral protein processing TAS
    Traceable Author Statement
    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-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase
    Names
    NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-alpha-2, 6-sialyltransferase alpha2,6-sialyltransferase
    NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-alpha-2,6-sialyltransferase IV
    ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4
    ST6 GalNAc alpha-2,6-sialyltransferase 4
    ST6 neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminidealpha-2,6-sialyltransferase 4
    sialyltransferase 3C
    sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)
    NP_778204.1
    NP_778205.1

    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_175039.4 → NP_778204.1  alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase isoform a

      See identical proteins and their annotated locations for NP_778204.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL157935
      Consensus CDS
      CCDS6883.1
      UniProtKB/Swiss-Prot
      Q5T9D0, Q9H4F1, Q9NWU6, Q9UKU1, Q9ULB9, Q9Y3G3, Q9Y3G4
      Related
      ENSP00000336733.5, ENST00000335791.10
      Conserved Domains (1) summary
      pfam00777
      Location:59 → 254
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    2. NM_175040.4 → NP_778205.1  alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase isoform b

      See identical proteins and their annotated locations for NP_778205.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' coding region and utilizes a downstream in-frame start codon compared to variant 1. Variant 2 encodes isoform b which has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AL157935
      UniProtKB/TrEMBL
      A6NJX0, A8K7N4, B7ZBP4
      Related
      ENSP00000355130.3, ENST00000361444.3
      Conserved Domains (1) summary
      pfam00777
      Location:2 → 205
      Glyco_transf_29; Glycosyltransferase family 29 (sialyltransferase)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      127907886..127917041 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      140115658..140124816 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_014403.3: Suppressed sequence

      Description
      NM_014403.3: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H4F1.2 GenPept UniProtKB/Swiss-Prot:Q9H4F1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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