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

Gene ID: 2589, updated on 8-Jul-2021

Summary

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
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

See GALNT1 in Genome Data Viewer
Location:
18q12.2
Exon count:
16
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (35580922..35711834)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (33160886..33291798)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene GATA motif-containing MPRA enhancer 294 Neighboring gene INO80 complex subunit C Neighboring gene microRNA 3975 Neighboring gene uncharacterized LOC105372065 Neighboring gene uncharacterized LOC105372064 Neighboring gene nuclear receptor binding factor 2 pseudogene 1 Neighboring gene microRNA 187

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

General protein information

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

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_001384438.1NP_001371367.1  polypeptide N-acetylgalactosaminyltransferase 1

    Status: REVIEWED

    Source sequence(s)
    AC090220, AC090229
    Conserved Domains (2) summary
    cd02510
    Location:119419
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    pfam00652
    Location:432548
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
  2. NM_001384439.1NP_001371368.1  polypeptide N-acetylgalactosaminyltransferase 1

    Status: REVIEWED

    Source sequence(s)
    AC090220, AC090229
    Conserved Domains (2) summary
    cd02510
    Location:119419
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    pfam00652
    Location:432548
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
  3. NM_001384440.1NP_001371369.1  polypeptide N-acetylgalactosaminyltransferase 1

    Status: REVIEWED

    Source sequence(s)
    AC090220, AC090229
    Conserved Domains (2) summary
    cd02510
    Location:119419
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    pfam00652
    Location:432548
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
  4. NM_001384441.1NP_001371370.1  polypeptide N-acetylgalactosaminyltransferase 1

    Status: REVIEWED

    Source sequence(s)
    AC090220, AC090229
    Conserved Domains (2) summary
    cd02510
    Location:119419
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    pfam00652
    Location:432548
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
  5. NM_001384442.1NP_001371371.1  polypeptide N-acetylgalactosaminyltransferase 1

    Status: REVIEWED

    Source sequence(s)
    AC090220, AC090229
    Conserved Domains (2) summary
    cd02510
    Location:119419
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    pfam00652
    Location:432548
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
  6. NM_001384443.1NP_001371372.1  polypeptide N-acetylgalactosaminyltransferase 1

    Status: REVIEWED

    Source sequence(s)
    AC090220, AC090229
    Conserved Domains (2) summary
    cd02510
    Location:119419
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    pfam00652
    Location:432548
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
  7. NM_001384444.1NP_001371373.1  polypeptide N-acetylgalactosaminyltransferase 1

    Status: REVIEWED

    Source sequence(s)
    AC090220, AC090229
    Conserved Domains (2) summary
    cd02510
    Location:119419
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    pfam00652
    Location:432548
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
  8. NM_001384445.1NP_001371374.1  polypeptide N-acetylgalactosaminyltransferase 1

    Status: REVIEWED

    Source sequence(s)
    AC090220, AC090229
    Conserved Domains (2) summary
    cd02510
    Location:119419
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    pfam00652
    Location:432548
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
  9. NM_001384446.1NP_001371375.1  polypeptide N-acetylgalactosaminyltransferase 1

    Status: REVIEWED

    Source sequence(s)
    AC090220, AC090229
    Conserved Domains (2) summary
    cd02510
    Location:119419
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    pfam00652
    Location:432548
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain
  10. NM_020474.4NP_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
    UniProtKB/TrEMBL
    A0A024RC48, Q05BM8
    Related
    ENSP00000269195.4, ENST00000269195.6
    Conserved Domains (2) summary
    cd02510
    Location:119419
    pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
    pfam00652
    Location:432548
    Ricin_B_lectin; Ricin-type beta-trefoil lectin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

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