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

    Gene ID: 2589, updated on 27-Nov-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
    mouse all
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    Genomic context

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    See GALNT1 in Genome Data Viewer
    Location:
    18q12.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (35580922..35711834)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (35772406..35903330)
    RS_2024_09 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. Glycosyltransferases. Structure, localization, and control of cell type-specific glycosylation. Paulson JC, et al. J Biol Chem, 1989 Oct 25. PMID 2681181
    2. 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
    3. ppGalNAc T1 as a potential novel marker for human bladder cancer. Ding MX, et al. Asian Pac J Cancer Prev, 2012. PMID 23317233
    4. 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
    5. 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

    See all (69) 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)

    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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    NEW Try the new Transcript table

    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_2024_08

    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

    Gene LinkOut

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