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GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 [ Homo sapiens (human) ]

Gene ID: 26290, updated on 8-Mar-2024

Summary

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Official Symbol
GALNT8provided by HGNC
Official Full Name
polypeptide N-acetylgalactosaminyltransferase 8provided by HGNC
Primary source
HGNC:HGNC:4130
See related
Ensembl:ENSG00000130035 MIM:606250; AllianceGenome:HGNC:4130
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
GALNAC-T8
Summary
This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. [provided by RefSeq, Jul 2008]
Expression
Biased expression in colon (RPKM 8.3), small intestine (RPKM 6.0) and 3 other tissues See more
Orthologs
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Genomic context

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Location:
12p13.32
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (4720400..4772726)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (4727222..4779711)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (4829566..4881892)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4758050-4758705 Neighboring gene NADH:ubiquinone oxidoreductase subunit A9 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4828687-4829682 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:4829683-4830678 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4830679-4831674 Neighboring gene GALNT8 antisense upstream 1 Neighboring gene uncharacterized LOC124902863 Neighboring gene Sharpr-MPRA regulatory region 13428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4872941-4873441 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:4932879-4934078 Neighboring gene MPRA-validated peak1537 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4939415-4939916 Neighboring gene potassium voltage-gated channel subfamily A member 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4962778-4963278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5833 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5834 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:4966717-4967360 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:5008995-5010194 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:5015702-5016901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:5017696-5018452 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4155 Neighboring gene potassium voltage-gated channel subfamily A member 1

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. Single-nucleotide polymorphisms in GALNT8 are associated with the response to interferon therapy for chronic hepatitis C. Nakano R, et al. J Gen Virol, 2013 Jan. PMID 23034592
  2. Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene. White KE, et al. Gene, 2000 Apr 4. PMID 10767557
  3. GALNT8 suppresses breast cancer cell metastasis potential by regulating EGFR O-GalNAcylation. Huang T, et al. Biochem Biophys Res Commun, 2022 Apr 23. PMID 35220009
  4. Dynamic chromosomal tuning of a novel GAU1 lncing driver at chr12p13.32 accelerates tumorigenesis. Chai P, et al. Nucleic Acids Res, 2018 Jul 6. PMID 29741668, Free PMC Article
  5. Expression of GALNT8 and O-glycosylation of BMP receptor 1A suppress breast cancer cell proliferation by upregulating ERα levels. Huang T, et al. Biochim Biophys Acta Gen Subj, 2022 Jan. PMID 34743989

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GALNT8 suppresses breast cancer cell metastasis potential by regulating EGFR O-GalNAcylation.
    Title: GALNT8 suppresses breast cancer cell metastasis potential by regulating EGFR O-GalNAcylation.
  2. Expression of GALNT8 and O-glycosylation of BMP receptor 1A suppress breast cancer cell proliferation by upregulating ERalpha levels.
    Title: Expression of GALNT8 and O-glycosylation of BMP receptor 1A suppress breast cancer cell proliferation by upregulating ERα levels.
  3. Dynamic tuning of chromatin co-drives the activation of a gene cluster that includes the lncRNA GAU1 and the protein-coding gene GALNT8, thereby inducing tumorigenesis.
    Title: Dynamic chromosomal tuning of a novel GAU1 lncing driver at chr12p13.32 accelerates tumorigenesis.
  4. we integrated different computational tools to perform the in silico analysis of clinically significant mutations (nsSNPs/single amino acid change) at both functional and structural levels, found in human GALNT3, GALNT8, GALNT12, and GALNT13 genes.
    Title: Clinically significant missense variants in human GALNT3, GALNT8, GALNT12, and GALNT13 genes: intriguing in silico findings.
  5. GALNT8 variants were associated with treatment outcome independently of HCV genotype.
    Title: Single-nucleotide polymorphisms in GALNT8 are associated with the response to interferon therapy for chronic hepatitis C.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
  7. This enzyme initiates O-glycan synthesis in IgA1 the hinge region.
    Title: Initiation of O-glycan synthesis in IgA1 hinge region is determined by a single enzyme, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2.
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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Potential readthrough

Included gene: NDUFA9

Homology

Clone Names

  • FLJ17364

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables carbohydrate binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables polypeptide N-acetylgalactosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables polypeptide N-acetylgalactosaminyltransferase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in O-glycan processing TAS
Traceable Author Statement
more info
  
involved_in protein O-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
probable polypeptide N-acetylgalactosaminyltransferase 8
Names
GalNAc transferase 8
UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase 8
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)
polypeptide GalNAc transferase 8
pp-GaNTase 8
protein-UDP acetylgalactosaminyltransferase 8
NP_059113.1

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_017417.2 → NP_059113.1  probable polypeptide N-acetylgalactosaminyltransferase 8

    See identical proteins and their annotated locations for NP_059113.1

    Status: REVIEWED

    Source sequence(s)
    AC005833, AJ271385
    Consensus CDS
    CCDS8533.1
    UniProtKB/Swiss-Prot
    B2RU02, Q9NY28
    Related
    ENSP00000252318.2, ENST00000252318.7
    Conserved Domains (3) summary
    cd02510
    Location:184 → 485
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    cd00161
    Location:498 → 624
    RICIN; Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific ...
    cl25732
    Location:48 → 161
    SMC_N; RecF/RecN/SMC N terminal domain

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    4720400..4772726
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    4727222..4779711
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NY28.1 GenPept UniProtKB/Swiss-Prot:Q9NY28

Gene LinkOut

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