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GALNT1 polypeptide N-acetylgalactosaminyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 2589, updated on 3-Apr-2024

Summary

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Official Symbol
GALNT1provided by HGNC
Official Full Name
polypeptide N-acetylgalactosaminyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:4123
See related
Ensembl:ENSG00000141429 MIM:602273; AllianceGenome:HGNC:4123
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-T1
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. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in urinary bladder (RPKM 44.6), esophagus (RPKM 32.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
18q12.2
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (35580922..35711834)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (35772406..35903330)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (33160886..33291798)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:33037967-33038794 Neighboring gene GATA motif-containing MPRA enhancer 294 Neighboring gene ZNF24 transcription regulator Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:33058203-33059402 Neighboring gene Sharpr-MPRA regulatory region 729 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:33069875-33070595 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:33070661-33071322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:33071323-33071984 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13226 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:33083620-33083814 Neighboring gene INO80 complex subunit C Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:33088818-33089400 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13229 Neighboring gene microRNA 3975 Neighboring gene uncharacterized LOC105372065 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:33251128-33251300 Neighboring gene uncharacterized LOC124904285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13231 Neighboring gene uncharacterized LOC105372064 Neighboring gene Sharpr-MPRA regulatory region 10371 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:33328223-33328722 Neighboring gene Sharpr-MPRA regulatory region 7575 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:33370492-33370994 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:33407991-33408524 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:33429551-33430482 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:33430483-33431416 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:33431417-33432348 Neighboring gene nuclear receptor binding factor 2 pseudogene 1 Neighboring gene microRNA 187

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. GALNT1 Enhances Malignant Phenotype of Gastric Cancer via Modulating CD44 Glycosylation to Activate the Wnt/β-catenin Signaling Pathway. Zhang J, et al. Int J Biol Sci, 2022. PMID 36439876, Free PMC Article
  2. High Expression of N-Acetylgalactosaminyl-transferase 1 (GALNT1) Associated with Invasion, Metastasis, and Proliferation in Osteosarcoma. Zhang L, et al. Med Sci Monit, 2020 Dec 7. PMID 33284788, Free PMC Article
  3. Site-specific glycosylation of Ebola virus glycoprotein by human polypeptide GalNAc-transferase 1 induces cell adhesion defects. Simon EJ, et al. J Biol Chem, 2018 Dec 21. PMID 30389789, Free PMC Article
  4. ppGalNAc T1 as a potential novel marker for human bladder cancer. Ding MX, et al. Asian Pac J Cancer Prev, 2012. PMID 23317233
  5. Elucidation of the sugar recognition ability of the lectin domain of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3 by using unnatural glycopeptide substrates. Yoshimura Y, et al. Glycobiology, 2012 Mar. PMID 22042768

See all (64) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. GALNT1 Enhances Malignant Phenotype of Gastric Cancer via Modulating CD44 Glycosylation to Activate the Wnt/beta-catenin Signaling Pathway.
    Title: GALNT1 Enhances Malignant Phenotype of Gastric Cancer via Modulating CD44 Glycosylation to Activate the Wnt/β-catenin Signaling Pathway.
  2. High Expression of N-Acetylgalactosaminyl-transferase 1 (GALNT1) Associated with Invasion, Metastasis, and Proliferation in Osteosarcoma.
    Title: High Expression of N-Acetylgalactosaminyl-transferase 1 (GALNT1) Associated with Invasion, Metastasis, and Proliferation in Osteosarcoma.
  3. LAMTOR5 raises abnormal initiation of O-glycosylation in breast cancer metastasis via modulating GALNT1 activity.
    Title: LAMTOR5 raises abnormal initiation of O-glycosylation in breast cancer metastasis via modulating GALNT1 activity.
  4. SNHG7 positively regulated GALNT1 level through sponging miR-216b, and played an oncogenic role in colorectal cancer progression.
    Title: LncRNA SNHG7 sponges miR-216b to promote proliferation and liver metastasis of colorectal cancer through upregulating GALNT1.
  5. a mechanism of Ebola GP-induced cell detachment that depends solely on ectodomain bulkiness and identify a single host-derived glycosylation enzyme, ppGalNAc-T1
    Title: Site-specific glycosylation of Ebola virus glycoprotein by human polypeptide GalNAc-transferase 1 induces cell adhesion defects.
  6. We have elucidated a novel miR-30-GALNT1/2 axis whose dysregulation increases the proportion of inactive proBNP secreted by the heart and impairs the compensatory actions of BNP during the progression of heart failure.
    Title: MiR30-GALNT1/2 Axis-Mediated Glycosylation Contributes to the Increased Secretion of Inactive Human Prohormone for Brain Natriuretic Peptide (proBNP) From Failing Hearts.
  7. the GalNAc-T13 isoform is predicted to function similarly to GalNAc-T1 against peptide substrates in vivo, in contrast to a prior report, but is unique by being selectively expressed in the brain.
    Title: Revisiting the human polypeptide GalNAc-T1 and T13 paralogs.
  8. Expression of GALNT3 was reduced in CAD patients, and down regulation of GALNT3 contributed to endothelial injury by promoting apoptosis and up-regulating the expression of MMP-2 and MMP-14 genes via p38 MAPK activation.
    Title: Down regulation of GALNT3 contributes to endothelial cell injury via activation of p38 MAPK signaling pathway.
  9. appears to be responsive to the inhibition of GALNT1 and SHH signaling
    Title: GALNT1-Mediated Glycosylation and Activation of Sonic Hedgehog Signaling Maintains the Self-Renewal and Tumor-Initiating Capacity of Bladder Cancer Stem Cells.
  10. Study demonstrates that down-regulation of GALNT1 is sufficient to suppress malignant phenotype of HCC cells by decreasing EGFR signaling.
    Title: Knockdown of GALNT1 suppresses malignant phenotype of hepatocellular carcinoma by suppressing EGFR signaling.
Submit: New GeneRIF Correction See all GeneRIFs (23)

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

EBI GWAS Catalog

Description
Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes.
EBI GWAS Catalog

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 carbohydrate binding IEA
Inferred from Electronic Annotation
more info
  
enables manganese ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables polypeptide N-acetylgalactosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables polypeptide N-acetylgalactosaminyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
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
  
involved_in protein O-linked glycosylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein O-linked glycosylation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein O-linked glycosylation via serine IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein O-linked glycosylation via threonine IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in viral protein processing TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
colocalizes_with Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
  
located_in Golgi membrane TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum-Golgi intermediate compartment membrane TAS
Traceable Author Statement
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in membrane HDA PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
polypeptide N-acetylgalactosaminyltransferase 1
Names
GalNAc transferase 1
UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 1
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)
polypeptide GalNAc transferase 1
pp-GaNTase 1
protein-UDP acetylgalactosaminyltransferase 1
NP_001371367.1
NP_001371368.1
NP_001371369.1
NP_001371370.1
NP_001371371.1
NP_001371372.1
NP_001371373.1
NP_001371374.1
NP_001371375.1
NP_065207.2
XP_047293421.1
XP_047293422.1
XP_047293423.1

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_001384438.1 → NP_001371367.1  polypeptide N-acetylgalactosaminyltransferase 1

    Status: REVIEWED

    Source sequence(s)
    AC090220, AC090229
    Consensus CDS
    CCDS11915.1
    UniProtKB/Swiss-Prot
    Q10472, Q86TJ7, Q9UM86
    UniProtKB/TrEMBL
    A8KAJ7
    Conserved Domains (2) summary
    cd02510
    Location:119 → 419
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    pfam00652
    Location:432 → 548
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

  2. NM_001384439.1 → NP_001371368.1  polypeptide N-acetylgalactosaminyltransferase 1

    Status: REVIEWED

    Source sequence(s)
    AC090220, AC090229
    Consensus CDS
    CCDS11915.1
    UniProtKB/Swiss-Prot
    Q10472, Q86TJ7, Q9UM86
    UniProtKB/TrEMBL
    A8KAJ7
    Conserved Domains (2) summary
    cd02510
    Location:119 → 419
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    pfam00652
    Location:432 → 548
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

  3. NM_001384440.1 → NP_001371369.1  polypeptide N-acetylgalactosaminyltransferase 1

    Status: REVIEWED

    Source sequence(s)
    AC090220, AC090229
    Consensus CDS
    CCDS11915.1
    UniProtKB/Swiss-Prot
    Q10472, Q86TJ7, Q9UM86
    UniProtKB/TrEMBL
    A8KAJ7
    Conserved Domains (2) summary
    cd02510
    Location:119 → 419
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    pfam00652
    Location:432 → 548
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

  4. NM_001384441.1 → NP_001371370.1  polypeptide N-acetylgalactosaminyltransferase 1

    Status: REVIEWED

    Source sequence(s)
    AC090220, AC090229
    Consensus CDS
    CCDS11915.1
    UniProtKB/Swiss-Prot
    Q10472, Q86TJ7, Q9UM86
    UniProtKB/TrEMBL
    A8KAJ7
    Conserved Domains (2) summary
    cd02510
    Location:119 → 419
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    pfam00652
    Location:432 → 548
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

  5. NM_001384442.1 → NP_001371371.1  polypeptide N-acetylgalactosaminyltransferase 1

    Status: REVIEWED

    Source sequence(s)
    AC090220, AC090229
    Consensus CDS
    CCDS11915.1
    UniProtKB/Swiss-Prot
    Q10472, Q86TJ7, Q9UM86
    UniProtKB/TrEMBL
    A8KAJ7
    Conserved Domains (2) summary
    cd02510
    Location:119 → 419
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    pfam00652
    Location:432 → 548
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

  6. NM_001384443.1 → NP_001371372.1  polypeptide N-acetylgalactosaminyltransferase 1

    Status: REVIEWED

    Source sequence(s)
    AC090220, AC090229
    Consensus CDS
    CCDS11915.1
    UniProtKB/Swiss-Prot
    Q10472, Q86TJ7, Q9UM86
    UniProtKB/TrEMBL
    A8KAJ7
    Conserved Domains (2) summary
    cd02510
    Location:119 → 419
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    pfam00652
    Location:432 → 548
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

  7. NM_001384444.1 → NP_001371373.1  polypeptide N-acetylgalactosaminyltransferase 1

    Status: REVIEWED

    Source sequence(s)
    AC090220, AC090229
    Consensus CDS
    CCDS11915.1
    UniProtKB/Swiss-Prot
    Q10472, Q86TJ7, Q9UM86
    UniProtKB/TrEMBL
    A8KAJ7
    Conserved Domains (2) summary
    cd02510
    Location:119 → 419
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    pfam00652
    Location:432 → 548
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

  8. NM_001384445.1 → NP_001371374.1  polypeptide N-acetylgalactosaminyltransferase 1

    Status: REVIEWED

    Source sequence(s)
    AC090220, AC090229
    Consensus CDS
    CCDS11915.1
    UniProtKB/Swiss-Prot
    Q10472, Q86TJ7, Q9UM86
    UniProtKB/TrEMBL
    A8KAJ7
    Conserved Domains (2) summary
    cd02510
    Location:119 → 419
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    pfam00652
    Location:432 → 548
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

  9. NM_001384446.1 → NP_001371375.1  polypeptide N-acetylgalactosaminyltransferase 1

    Status: REVIEWED

    Source sequence(s)
    AC090220, AC090229
    Consensus CDS
    CCDS11915.1
    UniProtKB/Swiss-Prot
    Q10472, Q86TJ7, Q9UM86
    UniProtKB/TrEMBL
    A8KAJ7
    Conserved Domains (2) summary
    cd02510
    Location:119 → 419
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    pfam00652
    Location:432 → 548
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

  10. NM_020474.4 → NP_065207.2  polypeptide N-acetylgalactosaminyltransferase 1

    See identical proteins and their annotated locations for NP_065207.2

    Status: REVIEWED

    Source sequence(s)
    AC090220, AC090229
    Consensus CDS
    CCDS11915.1
    UniProtKB/Swiss-Prot
    Q10472, Q86TJ7, Q9UM86
    UniProtKB/TrEMBL
    A8KAJ7
    Related
    ENSP00000269195.4, ENST00000269195.6
    Conserved Domains (2) summary
    cd02510
    Location:119 → 419
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    pfam00652
    Location:432 → 548
    Ricin_B_lectin; Ricin-type beta-trefoil lectin 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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    35580922..35711834
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047437466.1 → XP_047293422.1  polypeptide N-acetylgalactosaminyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q10472, Q86TJ7, Q9UM86

  2. XM_047437465.1 → XP_047293421.1  polypeptide N-acetylgalactosaminyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q10472, Q86TJ7, Q9UM86

  3. XM_047437467.1 → XP_047293423.1  polypeptide N-acetylgalactosaminyltransferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q10472, Q86TJ7, Q9UM86

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    35772406..35903330
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q10472.1 GenPept UniProtKB/Swiss-Prot:Q10472

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