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

Gene ID: 2589, updated on 8-Dec-2018

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

Genomic context

See GALNT1 in Genome Data Viewer
Location:
18q12.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (35654569..35711834)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (33207400..33291798)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • COPI-independent Golgi-to-ER retrograde traffic, organism-specific biosystem (from REACTOME)
    COPI-independent Golgi-to-ER retrograde traffic, organism-specific biosystemIn addition to the better characterized COPI-dependent retrograde Golgi-to-ER pathway, a second COPI-independent pathway has also been identified. This pathway is RAB6 dependent and transports cargo...
  • Golgi-to-ER retrograde transport, organism-specific biosystem (from REACTOME)
    Golgi-to-ER retrograde transport, organism-specific biosystemRetrograde traffic from the cis-Golgi to the ERGIC or the ER occurs through either COPI-coated vesicles or through a less well characterized RAB6-dependent route that makes use of tubular carriers (r...
  • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Mucin type O-glycan biosynthesis, organism-specific biosystem (from KEGG)
    Mucin type O-glycan biosynthesis, organism-specific biosystemO-glycans are a class of glycans that modify serine or threonine residues of proteins. Biosynthesis of O-glycans starts from the transfer of N-acetylgalactosamine (GalNAc) to serine or threonine. The...
  • Mucin type O-glycan biosynthesis, conserved biosystem (from KEGG)
    Mucin type O-glycan biosynthesis, conserved biosystemO-glycans are a class of glycans that modify serine or threonine residues of proteins. Biosynthesis of O-glycans starts from the transfer of N-acetylgalactosamine (GalNAc) to serine or threonine. The...
  • O-glycan biosynthesis, mucin type core, organism-specific biosystem (from KEGG)
    O-glycan biosynthesis, mucin type core, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Glycan metabolism
  • O-glycan biosynthesis, mucin type core, conserved biosystem (from KEGG)
    O-glycan biosynthesis, mucin type core, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Glycan metabolism
  • O-linked glycosylation, organism-specific biosystem (from REACTOME)
    O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
  • O-linked glycosylation of mucins, organism-specific biosystem (from REACTOME)
    O-linked glycosylation of mucins, organism-specific biosystemMucins are a family of high molecular weight, heavily glycosylated proteins (glycoconjugates) produced by epithelial tissues in most metazoa. Mucins' key characteristic is their ability to form gels...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
  • mucin core 1 and core 2 O-glycosylation, organism-specific biosystem (from BIOCYC)
    mucin core 1 and core 2 O-glycosylation, organism-specific biosystemGeneral Background Glycosylation is one of the major types of post-translational modification of proteins, and is an essential process in all eukaryotes. Protein glycosylation is known to be involve...
  • mucin core 1 and core 2 O-glycosylation, conserved biosystem (from BIOCYC)
    mucin core 1 and core 2 O-glycosylation, conserved biosystemGeneral Background Glycosylation is one of the major types of post-translational modification of proteins, and is an essential process in all eukaryotes. Protein glycosylation is known to be involve...
  • mucin core 3 and core 4 O-glycosylation, conserved biosystem (from BIOCYC)
    mucin core 3 and core 4 O-glycosylation, conserved biosystemGeneral Background Glycosylation is one of the major types of post-translational modification of proteins, and is an essential process in all eukaryotes. Protein glycosylation is known to be involve...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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_065207.2

NCBI Reference Sequences (RefSeq)

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_020474.3NP_065207.2  polypeptide N-acetylgalactosaminyltransferase 1

    See identical proteins and their annotated locations for NP_065207.2

    Status: REVIEWED

    Source sequence(s)
    BC038440, BM668856, BM838102, CB164572, CK431238, DA991281, DN996147, X85018
    Consensus CDS
    CCDS11915.1
    UniProtKB/Swiss-Prot
    Q10472
    UniProtKB/TrEMBL
    A0A024RC48, Q05BM8
    Related
    ENSP00000269195.4, ENST00000269195.5
    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 Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

    Range
    35654569..35711834
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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