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

Gene ID: 27090, updated on 27-Nov-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
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Genomic context

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See ST6GALNAC4 in Genome Data Viewer
Location:
9q34.11
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (127907886..127917041, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (140115658..140124816, complement)
RS_2024_09 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. 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
  3. 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
  4. Human ST3Gal II and ST6GalNAc IV genes increase human serum-mediated cytotoxicity to xenogeneic cells. Choi H, et al. Xenotransplantation, 2024 Mar-Apr. PMID 38602029
  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 (25) 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)

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_2024_08

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

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