Cell atlas - GNPTAB - The Human Protein Atlas

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GNPTAB

TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Vesicles

Human cell
	Vesicles

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GENERAL INFORMATION
Gene name	GNPTAB
Gene description	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
Protein class	Cancer-related genes Disease related genes Enzymes Potential drug targets Predicted intracellular proteins Predicted membrane proteins
Predicted localization	Intracellular,Membrane
Number of transcripts	6
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to vesicles.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Vesicles (approved)
Single-cell variation	Single-cell variation in protein expression observed.

DATA RELIABILITY
Reliability score	Approved based on 1 antibody. HPA017754
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to vesicles.

Main location

Vesicles (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA017754	SiHa	Vesicles	Intensity

GENE INFORMATION
Gene name	GNPTAB (HGNC Symbol)
Synonyms	GNPTA, KIAA1208, MGC4170
Description	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (HGNC Symbol)
Entrez gene 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]
Chromosome	12
Cytoband	q23.2
Chromosome location (bp)	101745497 - 101830938
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000111670 (version 83.38)
Entrez gene	79158
UniProt	Q3T906 (UniProt - Evidence at protein level)
neXtProt	NX_Q3T906
Antibodypedia	GNPTAB antibodies

PROTEIN BROWSER

GNPTAB-001	GNPTAB-002	GNPTAB-003	GNPTAB-004	GNPTAB-009	GNPTAB-011

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
GNPTAB-001 ENSP00000299314 ENST00000299314	Q3T906 [Direct mapping] N-acetylglucosamine-1-phosphotransferase subunits alpha/beta N-acetylglucosamine-1-phosphotransferase subunit alpha N-acetylglucosamine-1-phosphotransferase subunit beta Show all	Enzymes ENZYME proteins Transferases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Cancer-related genes Mutated cancer genes Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000139 [Golgi membrane] GO:0003976 [UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005794 [Golgi apparatus] GO:0007040 [lysosome organization] GO:0008134 [transcription factor binding] GO:0009306 [protein secretion] GO:0016021 [integral component of membrane] GO:0016256 [N-glycan processing to lysosome] GO:0016772 [transferase activity, transferring phosphorus-containing groups] GO:0046835 [carbohydrate phosphorylation] Show all	1256 aa 143.6 kDa	No	2
GNPTAB-002 ENSP00000376651 ENST00000392919	Q9BUA5 [Direct mapping] GNPTAB protein; N-acetylglucosamine-1-phosphotransferase subunits alpha/beta Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Cancer-related genes Mutated cancer genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0016021 [integral component of membrane] Show all	71 aa 8.4 kDa	No	1
GNPTAB-003 ENSP00000449150 ENST00000549940	Q3T906 [Direct mapping] N-acetylglucosamine-1-phosphotransferase subunits alpha/beta N-acetylglucosamine-1-phosphotransferase subunit alpha N-acetylglucosamine-1-phosphotransferase subunit beta Show all	Enzymes ENZYME proteins Transferases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Cancer-related genes Mutated cancer genes Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0000139 [Golgi membrane] GO:0003976 [UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005794 [Golgi apparatus] GO:0007040 [lysosome organization] GO:0008134 [transcription factor binding] GO:0016021 [integral component of membrane] GO:0016256 [N-glycan processing to lysosome] GO:0016772 [transferase activity, transferring phosphorus-containing groups] GO:0046835 [carbohydrate phosphorylation] Show all	490 aa 56 kDa	No	1
GNPTAB-004 ENSP00000449217 ENST00000552681	H0YIE6 [Direct mapping] N-acetylglucosamine-1-phosphotransferase subunits alpha/beta Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Protein evidence (Ezkurdia et al 2014) Show all		138 aa 15.3 kDa	No	0
GNPTAB-009 ENSP00000450413 ENST00000549165	F8VQW2 [Direct mapping] N-acetylglucosamine-1-phosphotransferase subunits alpha/beta Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Cancer-related genes Mutated cancer genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0016021 [integral component of membrane] Show all	68 aa 8.1 kDa	No	1
GNPTAB-011 ENSP00000449557 ENST00000550718	H0YIK3 [Direct mapping] N-acetylglucosamine-1-phosphotransferase subunits alpha/beta Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Protein evidence (Ezkurdia et al 2014) Show all		117 aa 13.2 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.