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GCNT7 glucosaminyl (N-acetyl) transferase family member 7 [ Homo sapiens (human) ]

Gene ID: 140687, updated on 11-Jun-2021

Summary

Official Symbol
GCNT7provided by HGNC
Official Full Name
glucosaminyl (N-acetyl) transferase family member 7provided by HGNC
Primary source
HGNC:HGNC:16099
See related
Ensembl:ENSG00000124091
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
gcnt; C20orf105; dJ1153D9.2
Expression
Biased expression in testis (RPKM 2.8), bone marrow (RPKM 1.8) and 2 other tissues See more
Orthologs
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Genomic context

See GCNT7 in Genome Data Viewer
Location:
20q13.31
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (56491492..56525925, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (55066548..55100981, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cleavage stimulation factor subunit 1 Neighboring gene Cas scaffold protein family member 4 Neighboring gene ribosomal protein L39 pseudogene Neighboring gene replication termination factor 2 Neighboring gene uncharacterized LOC105372681 Neighboring gene family with sequence similarity 209 member A Neighboring gene family with sequence similarity 209 member B Neighboring gene long intergenic non-protein coding RNA 1716

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

Phenotypes

Associated conditions

Description Tests
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
GeneReviews: Not available
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
GeneReviews: Not available

Pathways from PubChem

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7
Names
beta 1,6-N-acetylglucosaminyltransferase

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_080615.1NP_542182.1  beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7

    See identical proteins and their annotated locations for NP_542182.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1, coding) differs at a polymorphic nucleotide compared to the reference genome sequence and represents the protein coding allele.
    Source sequence(s)
    AK131203, AL109806
    UniProtKB/Swiss-Prot
    Q6ZNI0
    UniProtKB/TrEMBL
    F2Z6J8
    Conserved Domains (1) summary
    pfam02485
    Location:111374
    Branch; Core-2/I-Branching enzyme

RNA

  1. NR_160308.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1, non-coding) contains a polymorphic nt that creates an early termination codon compared to variant 1, coding. The resulting transcript is considered to be non-protein coding since it is a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL109806
    Related
    ENST00000243913.8

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_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    56491492..56525925 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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