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GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma [ Homo sapiens (human) ]

Gene ID: 84572, updated on 26-Nov-2021

Summary

Official Symbol
GNPTGprovided by HGNC
Official Full Name
N-acetylglucosamine-1-phosphate transferase subunit gammaprovided by HGNC
Primary source
HGNC:HGNC:23026
See related
Ensembl:ENSG00000090581 MIM:607838
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
RJD9; GNPTAG; LP2537; C16orf27
Summary
This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]
Expression
Ubiquitous expression in adrenal (RPKM 53.6), kidney (RPKM 34.3) and 25 other tissues See more
Orthologs
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Genomic context

See GNPTG in Genome Data Viewer
Location:
16p13.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (1351931..1364113)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1401932..1414114)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S20 pseudogene 2 Neighboring gene BAI1 associated protein 3 Neighboring gene TSR3 ribosome maturation factor Neighboring gene unk like zinc finger Neighboring gene tight junction protein 1 pseudogene 1 Neighboring gene uncharacterized LOC101929440

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in carbohydrate phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 

General protein information

Preferred Names
N-acetylglucosamine-1-phosphotransferase subunit gamma
Names
N-acetylglucosamine-1-phosphate transferase gamma subunit
UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma
glcNAc-1-phosphotransferase subunit gamma

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.

Genomic

  1. NG_016985.1 RefSeqGene

    Range
    5033..17215
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032520.5NP_115909.1  N-acetylglucosamine-1-phosphotransferase subunit gamma precursor

    See identical proteins and their annotated locations for NP_115909.1

    Status: REVIEWED

    Source sequence(s)
    AK312067, AL031709, AY203933, BC014592, DT219524
    Consensus CDS
    CCDS10436.1
    UniProtKB/Swiss-Prot
    Q9UJJ9
    Related
    ENSP00000204679.4, ENST00000204679.9
    Conserved Domains (1) summary
    pfam07915
    Location:69129
    PRKCSH; Glucosidase II beta subunit-like protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    1351931..1364113
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023782.1XP_016879271.1  N-acetylglucosamine-1-phosphotransferase subunit gamma isoform X1

    Related
    ENSP00000506886.1, ENST00000683887.1
  2. XM_017023783.1XP_016879272.1  N-acetylglucosamine-1-phosphotransferase subunit gamma isoform X2

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