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GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta [ Homo sapiens (human) ]

Gene ID: 79158, updated on 1-Jun-2020

Summary

Official Symbol
GNPTABprovided by HGNC
Official Full Name
N-acetylglucosamine-1-phosphate transferase subunits alpha and betaprovided by HGNC
Primary source
HGNC:HGNC:29670
See related
Ensembl:ENSG00000111670 MIM:607840
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
ICD; GNPTA
Summary
This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]
Expression
Ubiquitous expression in colon (RPKM 16.4), lung (RPKM 13.5) and 25 other tissues See more
Orthologs

Genomic context

See GNPTAB in Genome Data Viewer
Location:
12q23.2
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (101745499..101830959, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (102139275..102224645, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene choline phosphotransferase 1 Neighboring gene RNY1 pseudogene 16 Neighboring gene synaptonemal complex protein 3 Neighboring gene RNA, U6 small nuclear 101, pseudogene Neighboring gene ST13, Hsp70 interacting protein pseudogene 22 Neighboring gene RNA, 5S ribosomal pseudogene 368 Neighboring gene RNA, U6 small nuclear 172, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 369 Neighboring gene CRISPRi-validated cis-regulatory element chr12.3152

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC4170, KIAA1208, DKFZp762B226

Gene Ontology Provided by GOA

Process Evidence Code Pubs
N-glycan processing to lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
N-glycan processing to lysosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
carbohydrate phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carbohydrate phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
lysosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
secretion of lysosomal enzymes IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
Names
GlcNAc phosphotransferase
N-acetylglucosamine-1-phosphate transferase alpha and beta subunits
UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine
glcNAc-1-phosphotransferase subunits alpha/beta
glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase
stealth protein GNPTAB
NP_077288.2
XP_006719656.1
XP_011537033.1
XP_016875450.1
XP_016875451.1

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.

Genomic

  1. NG_021243.1 RefSeqGene

    Range
    4909..90369
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_024312.5NP_077288.2  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta precursor

    See identical proteins and their annotated locations for NP_077288.2

    Status: REVIEWED

    Source sequence(s)
    AC063950, AM085438, BP276948
    Consensus CDS
    CCDS9088.1
    UniProtKB/Swiss-Prot
    Q3T906
    Related
    ENSP00000299314.7, ENST00000299314.12
    Conserved Domains (6) summary
    pfam00066
    Location:435469
    Notch; LNR domain
    pfam06464
    Location:699814
    DMAP_binding; DMAP1-binding Domain
    pfam11380
    Location:322429
    Stealth_CR2; Stealth protein CR2, conserved region 2
    pfam17101
    Location:73101
    Stealth_CR1; Stealth protein CR1, conserved region 1
    pfam17102
    Location:9551003
    Stealth_CR3; Stealth protein CR3, conserved region 3
    pfam17103
    Location:11381194
    Stealth_CR4; Stealth protein CR4, conserved region 4

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_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    101745499..101830959 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019961.1XP_016875450.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X2

  2. XM_017019962.2XP_016875451.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X4

  3. XM_011538731.2XP_011537033.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X1

    Conserved Domains (6) summary
    pfam00066
    Location:408442
    Notch; LNR domain
    pfam06464
    Location:672787
    DMAP_binding; DMAP1-binding Domain
    pfam11380
    Location:295402
    Stealth_CR2; Stealth protein CR2, conserved region 2
    pfam17101
    Location:4674
    Stealth_CR1; Stealth protein CR1, conserved region 1
    pfam17102
    Location:928976
    Stealth_CR3; Stealth protein CR3, conserved region 3
    pfam17103
    Location:11111167
    Stealth_CR4; Stealth protein CR4, conserved region 4
  4. XM_006719593.3XP_006719656.1  N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X3

    Conserved Domains (5) summary
    pfam00066
    Location:435469
    Notch; LNR domain
    pfam06464
    Location:699814
    DMAP_binding; DMAP1-binding Domain
    pfam11380
    Location:322429
    Stealth_CR2; Stealth protein CR2, conserved region 2
    pfam17101
    Location:73101
    Stealth_CR1; Stealth protein CR1, conserved region 1
    pfam17102
    Location:9551003
    Stealth_CR3; Stealth protein CR3, conserved region 3
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