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GCNT1 glucosaminyl (N-acetyl) transferase 1 [ Homo sapiens (human) ]

Gene ID: 2650, updated on 13-Mar-2020

Summary

Official Symbol
GCNT1provided by HGNC
Official Full Name
glucosaminyl (N-acetyl) transferase 1provided by HGNC
Primary source
HGNC:HGNC:4203
See related
Ensembl:ENSG00000187210 MIM:600391
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
G6NT; C2GNT; C2GNT1; NACGT2; NAGCT2; C2GNT-L
Summary
This gene is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. The gene coding this enzyme was originally mapped to 9q21, but was later localized to 9q13. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
Expression
Biased expression in duodenum (RPKM 20.0), stomach (RPKM 13.9) and 13 other tissues See more
Orthologs

Genomic context

See GCNT1 in Genome Data Viewer
Location:
9q21.13
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (76441666..76507416)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (79034752..79122332)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein SA pseudogene 9 Neighboring gene H3 histone pseudogene 32 Neighboring gene uncharacterized LOC105376093 Neighboring gene peptidylprolyl isomerase A pseudogene 87 Neighboring gene uncharacterized LOC105376095 Neighboring gene prune homolog 2 with BCH domain

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

NHGRI GWAS Catalog

Description
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126335, MGC126336

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
O-glycan processing TAS
Traceable Author Statement
more info
 
cell adhesion molecule production IMP
Inferred from Mutant Phenotype
more info
PubMed 
glycoprotein biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
kidney morphogenesis IEA
Inferred from Electronic Annotation
more info
 
leukocyte tethering or rolling IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to insulin IEA
Inferred from Electronic Annotation
more info
 
tissue morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi cisterna IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase
Names
beta-1,6-N-acetylglucosaminyltransferase
core 2 GnT
core 2 beta-1,6-N-acetylglucosaminyltransferase I
core 2 beta1,6 N-acetylglucosaminyltransferase-I
core 2 branching enzyme
core2-GlcNAc-transferase
glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)
NP_001091102.1
NP_001091103.1
NP_001091104.1
NP_001091105.1
NP_001481.2

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_001097633.1NP_001091102.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase

    See identical proteins and their annotated locations for NP_001091102.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1, and uses the P2 promoter.
    Source sequence(s)
    AI445628, AL161626, AL832647, BC109101, BP359964, DA479942
    Consensus CDS
    CCDS6653.1
    UniProtKB/Swiss-Prot
    Q02742
    UniProtKB/TrEMBL
    Q86T81
    Related
    ENSP00000390703.2, ENST00000444201.6
    Conserved Domains (1) summary
    pfam02485
    Location:123391
    Branch; Core-2/I-Branching enzyme
  2. NM_001097634.1NP_001091103.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase

    See identical proteins and their annotated locations for NP_001091103.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript, and uses the P1 promoter.
    Source sequence(s)
    AI445628, AL161626, AL832647, AY196293, BC109101
    Consensus CDS
    CCDS6653.1
    UniProtKB/Swiss-Prot
    Q02742
    UniProtKB/TrEMBL
    Q86T81
    Related
    ENSP00000415454.1, ENST00000442371.5
    Conserved Domains (1) summary
    pfam02485
    Location:123391
    Branch; Core-2/I-Branching enzyme
  3. NM_001097635.1NP_001091104.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase

    See identical proteins and their annotated locations for NP_001091104.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1, and uses the P3 promoter.
    Source sequence(s)
    AI445628, AL161626, AL832647, AY196296, BC109101
    Consensus CDS
    CCDS6653.1
    UniProtKB/Swiss-Prot
    Q02742
    UniProtKB/TrEMBL
    Q86T81
    Conserved Domains (1) summary
    pfam02485
    Location:123391
    Branch; Core-2/I-Branching enzyme
  4. NM_001097636.1NP_001091105.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase

    See identical proteins and their annotated locations for NP_001091105.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1, and uses the P4 promoter.
    Source sequence(s)
    AI445628, AL161626, AL832647, AY196297, BC109101
    Consensus CDS
    CCDS6653.1
    UniProtKB/Swiss-Prot
    Q02742
    UniProtKB/TrEMBL
    Q86T81
    Conserved Domains (1) summary
    pfam02485
    Location:123391
    Branch; Core-2/I-Branching enzyme
  5. NM_001490.5NP_001481.2  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase

    See identical proteins and their annotated locations for NP_001481.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1, and uses the P2 promoter.
    Source sequence(s)
    AI445628, AL161626, AL832647, BC109101, BP359964
    Consensus CDS
    CCDS6653.1
    UniProtKB/Swiss-Prot
    Q02742
    UniProtKB/TrEMBL
    Q86T81
    Related
    ENSP00000365920.4, ENST00000376730.5
    Conserved Domains (1) summary
    pfam02485
    Location:123391
    Branch; Core-2/I-Branching enzyme

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    76441666..76507416
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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