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

Summary

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: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

EC 2.4.1.41

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)

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