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 (Gen... See more...

Aliases for GNPTAB Gene

Aliases for GNPTAB Gene

  • N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha And Beta 2 3 5
  • UDP-N-Acetylglucosamine-1-Phosphotransferase Subunits Alpha/Beta 3 4
  • N-Acetylglucosamine-1-Phosphotransferase Subunits Alpha/Beta 3 4
  • GlcNAc-1-Phosphotransferase Subunits Alpha/Beta 3 4
  • Stealth Protein GNPTAB 3 4
  • KIAA1208 2 4
  • GNPTA 3 4
  • Glucosamine (UDP-N-Acetyl)-Lysosomal-Enzyme N-Acetylglucosamine Phosphotransferase 3
  • N-Acetylglucosamine-1-Phosphate Transferase, Alpha And Beta Subunits 2
  • N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta Subunits 3
  • UDP-N-Acetylglucosamine-Lysosomal-Enzyme N-Acetylglucosamine 3
  • GlcNAc Phosphotransferase 3
  • EC 2.7.8.17 4
  • MGC4170 2
  • GNPTAB 5
  • ICD 3

External Ids for GNPTAB Gene

Previous HGNC Symbols for GNPTAB Gene

  • GNPTA

Previous GeneCards Identifiers for GNPTAB Gene

  • GC12M100642
  • GC12M100663
  • GC12M102139
  • GC12M099198

Summaries for GNPTAB Gene

Entrez Gene Summary for GNPTAB Gene

  • 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]

GeneCards Summary for GNPTAB Gene

GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha And Beta) is a Protein Coding gene. Diseases associated with GNPTAB include Mucolipidosis Iii Alpha/Beta and Mucolipidosis Ii Alpha/Beta. Among its related pathways are Lysosome. Gene Ontology (GO) annotations related to this gene include calcium ion binding and transcription factor binding.

UniProtKB/Swiss-Prot Summary for GNPTAB Gene

  • Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GNPTAB Gene

Genomics for GNPTAB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GNPTAB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J101828 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 617.1 +1.1 1086 3.5 CTCF HNRNPL PRDM10 BACH1 FOXA1 LARP7 ZNF143 RBFOX2 POLR2A PATZ1 GNPTAB CHPT1 piR-57133-127 SYCP3
GH12J101791 Enhancer 1.2 FANTOM5 Ensembl ENCODE 42.1 +36.0 35958 7.6 LEF1 CTCF JUND PKNOX1 ZNF24 DPF2 HDAC1 SOX6 TCF12 EP300 RF00026-265 RNU6-172P GNPTAB DRAM1 CHPT1 RNA5SP369 RNU6-1183P SYCP3 SNODB658
GH12J101712 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 26.4 +116.7 116685 3.7 GATAD2A TFE3 IKZF1 RCOR2 FOXA1 RXRB IRF2 SP1 CEBPA KMT2B MN309594 GNPTAB CHPT1 SYCP3 RNU6-101P RNA5SP369 RNY1P16 RF00019-021 NONHSAG012080.2
GH12J101929 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15.3 -105.3 -105329 12.7 SP1 CTCF PRDM10 ZNF629 POLR2A BACH1 JUND STAT3 PRDM1 ZNF143 RPL9P24 lnc-PARPBP-8 PARPBP GNPTAB WASHC3 IGF1 RNA5SP369 RNU6-101P SYCP3 DRAM1
GH12J101854 Enhancer 1.4 FANTOM5 Ensembl ENCODE 23 -27.2 -27228 9.2 PRDM10 ZNF629 LEF1 IKZF1 JUND FOXA1 STAT3 DDX20 MTA2 RELA lnc-GNPTAB-2 DRAM1 GNPTAB CHPT1 RNA5SP369 SYCP3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GNPTAB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GNPTAB

Top Transcription factor binding sites by QIAGEN in the GNPTAB gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • Egr-3
  • IRF-7A
  • p53
  • SEF-1 (1)
  • Spz1
  • SRF
  • SRF (504 AA)

Genomic Locations for GNPTAB Gene

Genomic Locations for GNPTAB Gene
chr12:101,745,499-101,830,959
(GRCh38/hg38)
Size:
85,461 bases
Orientation:
Minus strand
chr12:102,139,275-102,224,716
(GRCh37/hg19)
Size:
85,442 bases
Orientation:
Minus strand

Genomic View for GNPTAB Gene

Genes around GNPTAB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNPTAB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNPTAB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNPTAB Gene

Proteins for GNPTAB Gene

  • Protein details for GNPTAB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3T906-GNPTA_HUMAN
    Recommended name:
    N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
    Protein Accession:
    Q3T906
    Secondary Accessions:
    • A2RRQ9
    • Q3ZQK2
    • Q6IPW5
    • Q86TQ2
    • Q96N13
    • Q9ULL2

    Protein attributes for GNPTAB Gene

    Size:
    1256 amino acids
    Molecular mass:
    143622 Da
    Quaternary structure:
    • Hexamer of two alpha, two beta and two gamma (GNPTG) subunits; disulfide-linked. The alpha and/or the beta subunits of the enzyme constitute the catalytic subunits.
    Miscellaneous:
    • Due to the low pH in the endosomal/prelysosomal compartment, the lysosomal enzyme-MPR complex dissociates and then the enzyme is delivered to the lysosome. Between 5% and 20% of newly synthesized lysosomal enzymes escape the binding to the MPR in the Golgi apparatus and are secreted.
    • Stealth proteins are part of a protein family that is conserved from bacteria to higher eukaryotes. Family members were first identified in microbes as proteins that help pathogens to elude the host innate immune system. Microbial stealth proteins are most likely involved in the biosynthesis of exopolysaccharides. Stealth proteins are predicted to function as hexose-1-phosphoryltransferases.

    Three dimensional structures from OCA and Proteopedia for GNPTAB Gene

    Alternative splice isoforms for GNPTAB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GNPTAB Gene

Post-translational modifications for GNPTAB Gene

  • The alpha- and beta-subunits are generated by a proteolytic cleavage by MBTPS1 protease at the Lys-928-Asp-929 bond.
  • Glycosylation at Asn83, Asn114, Asn148, Asn179, Asn250, Asn287, Asn614, Asn642, Asn699, Asn729, Asn759, Ser782, Thr789, Ser794, Thr812, Thr813, Asn829, Ser837, Ser844, Thr847, Thr873, Asn1009, Thr1098, and Asn1129
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • GNPTA_HUMAN (1532)

No data available for DME Specific Peptides for GNPTAB Gene

Domains & Families for GNPTAB Gene

Gene Families for GNPTAB Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for GNPTAB Gene

GenScript: Design optimal peptide antigens:
  • UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta (GNPTA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q3T906

UniProtKB/Swiss-Prot:

GNPTA_HUMAN :
  • The DMAP1-binding domain mediates substrate recognition. It specifically recognizes a conformation-dependent protein determinant present in acid hydrolases (PubMed:23733939).
  • Belongs to the stealth family.
Domain:
  • The DMAP1-binding domain mediates substrate recognition. It specifically recognizes a conformation-dependent protein determinant present in acid hydrolases (PubMed:23733939).
Family:
  • Belongs to the stealth family.
genes like me logo Genes that share domains with GNPTAB: view

Function for GNPTAB Gene

Molecular function for GNPTAB Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=N(4)-[alpha-D-mannosyl-(1->2)-alpha-D-mannosyl-(glycan)]-L-asparaginyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N(4)-[6-(N-acetyl-alpha-D-glucosaminyl-1-phospho)-alpha-D-mannosyl-(1->2)-alpha-D-mannosyl-(glycan)]-L-asparaginyl-[protein] + UMP; Xref=Rhea:RHEA:13581, Rhea:RHEA-COMP:14507, Rhea:RHEA-COMP:14508, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:57865, ChEBI:CHEBI:140357, ChEBI:CHEBI:140369; EC=2.7.8.17; Evidence={ECO:0000269|PubMed:19955174};.

Enzyme Numbers (IUBMB) for GNPTAB Gene

Phenotypes From GWAS Catalog for GNPTAB Gene

Gene Ontology (GO) - Molecular Function for GNPTAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003976 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity IBA,IMP 25505245
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0016740 transferase activity IEA --
GO:0016772 transferase activity, transferring phosphorus-containing groups IEA --
genes like me logo Genes that share ontologies with GNPTAB: view
genes like me logo Genes that share phenotypes with GNPTAB: view

Human Phenotype Ontology for GNPTAB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GNPTAB Gene

MGI Knock Outs for GNPTAB:

Animal Model Products

  • Taconic Biosciences Mouse Models for GNPTAB

CRISPR Products

miRNA for GNPTAB Gene

miRTarBase miRNAs that target GNPTAB

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNPTAB

No data available for Transcription Factor Targets and HOMER Transcription for GNPTAB Gene

Localization for GNPTAB Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNPTAB Gene

[N-acetylglucosamine-1-phosphotransferase subunit alpha]: Golgi apparatus membrane. Single-pass type I membrane protein.
[N-acetylglucosamine-1-phosphotransferase subunit beta]: Golgi apparatus membrane. Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNPTAB gene
Compartment Confidence
golgi apparatus 5
plasma membrane 3
extracellular 2
nucleus 2
lysosome 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GNPTAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA,IDA 23733939
GO:0005794 Golgi apparatus IBA,IDA 21719679
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GNPTAB: view

Pathways & Interactions for GNPTAB Gene

PathCards logo

SuperPathways for GNPTAB Gene

SuperPathway Contained pathways
1 Lysosome
genes like me logo Genes that share pathways with GNPTAB: view

Pathways by source for GNPTAB Gene

1 KEGG pathway for GNPTAB Gene

Gene Ontology (GO) - Biological Process for GNPTAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007040 lysosome organization IMP 21719679
GO:0009306 protein secretion IEA --
GO:0016256 N-glycan processing to lysosome IBA,IMP 19938078
GO:0033299 secretion of lysosomal enzymes IEA --
GO:0046835 carbohydrate phosphorylation IBA,IDA 19955174
genes like me logo Genes that share ontologies with GNPTAB: view

No data available for SIGNOR curated interactions for GNPTAB Gene

Drugs & Compounds for GNPTAB Gene

(12) Drugs for GNPTAB Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citric acid Approved, Vet_approved Nutra Activator, Agonist, Target, substrate, inhibitor 1509
(R)-Propylene glycol Experimental Pharma Target 0
(S)-oxalosuccinic acid Experimental Pharma Target 0
(S)-propane-1,2-diol Experimental Pharma Target 0
3-Isopropylmalic Acid Experimental Pharma Target 0

(3) Additional Compounds for GNPTAB Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uridine diphosphate-N-acetylglucosamine
  • (2R,3R,4R,5S,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphate (non-preferred name)
  • UDP-GlcNAc
  • UDP-N-Acetyl-D-glucosamine
  • UDP-N-Acetylglucosamine
  • URIDINE-diphosphATE-N-acetylglucosamine
528-04-1
genes like me logo Genes that share compounds with GNPTAB: view

Transcripts for GNPTAB Gene

mRNA/cDNA for GNPTAB Gene

1 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNPTAB

Alternative Splicing Database (ASD) splice patterns (SP) for GNPTAB Gene

No ASD Table

Relevant External Links for GNPTAB Gene

GeneLoc Exon Structure for
GNPTAB

Expression for GNPTAB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GNPTAB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GNPTAB Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (50.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GNPTAB Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GNPTAB

SOURCE GeneReport for Unigene cluster for GNPTAB Gene:

Hs.46850

mRNA Expression by UniProt/SwissProt for GNPTAB Gene:

Q3T906-GNPTA_HUMAN
Tissue specificity: Expressed in the heart, whole brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for GNPTAB Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Skin(2.6)
  • Heart(2.5)
  • Intestine(2.4)
  • Spleen(2.2)
  • Kidney(2.2)
  • Blood(2.2)
  • Muscle(2.2)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GNPTAB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • aorta
  • breast
  • bronchus
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • liver
  • spleen
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with GNPTAB: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for GNPTAB Gene

Orthologs for GNPTAB Gene

This gene was present in the common ancestor of animals.

Orthologs for GNPTAB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GNPTAB 30 31
  • 99.5 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GNPTAB 30 31
  • 89.55 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GNPTAB 30 31
  • 87.92 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gnptab 30 17 31
  • 84.75 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gnptab 30
  • 83.88 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia GNPTAB 31
  • 83 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GNPTAB 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GNPTAB 30 31
  • 76.02 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GNPTAB 31
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gnptab 30
  • 67.75 (n)
Zebrafish
(Danio rerio)
Actinopterygii gnptab 30 31
  • 65.86 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG8027 31
  • 34 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
OneToOne
Species where no ortholog for GNPTAB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GNPTAB Gene

ENSEMBL:
Gene Tree for GNPTAB (if available)
TreeFam:
Gene Tree for GNPTAB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GNPTAB: view image

Paralogs for GNPTAB Gene

(37) SIMAP similar genes for GNPTAB Gene using alignment to 6 proteins:

  • GNPTA_HUMAN
  • F8VQW2_HUMAN
  • H0YIE6_HUMAN
  • H0YIK3_HUMAN
  • H0YIU2_HUMAN
  • Q9BUA5_HUMAN

Pseudogenes.org Pseudogenes for GNPTAB Gene

genes like me logo Genes that share paralogs with GNPTAB: view

No data available for Paralogs for GNPTAB Gene

Variants for GNPTAB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GNPTAB Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
635307 Uncertain Significance: Mucolipidosis type II 101,761,306(-) G/T MISSENSE_VARIANT
642316 Pathogenic: Mucolipidosis type II; Pseudo-Hurler polydystrophy 101,764,461(-) TC/T FRAMESHIFT_VARIANT
642935 Likely Pathogenic: Mucolipidosis type II; Pseudo-Hurler polydystrophy 101,796,675(-) A/G SPLICE_DONOR_VARIANT
657090 Uncertain Significance: Mucolipidosis type II; Pseudo-Hurler polydystrophy 101,789,989(-) T/C MISSENSE_VARIANT
659152 Likely Pathogenic: Mucolipidosis type II; Pseudo-Hurler polydystrophy 101,830,558(-) C/A SPLICE_DONOR_VARIANT

Additional dbSNP identifiers (rs#s) for GNPTAB Gene

Structural Variations from Database of Genomic Variants (DGV) for GNPTAB Gene

Variant ID Type Subtype PubMed ID
esv2615882 CNV insertion 19546169
esv3310570 CNV novel sequence insertion 20981092
esv3401797 CNV duplication 20981092
nsv560030 CNV gain 21841781
nsv832497 CNV gain 17160897
nsv861 CNV insertion 18451855
nsv973110 CNV duplication 23825009

Variation tolerance for GNPTAB Gene

Residual Variation Intolerance Score: 16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.36; 63.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GNPTAB Gene

Human Gene Mutation Database (HGMD)
GNPTAB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNPTAB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNPTAB Gene

Disorders for GNPTAB Gene

MalaCards: The human disease database

(16) MalaCards diseases for GNPTAB Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GNPTA_HUMAN
  • Mucolipidosis type II (MLII) [MIM:252500]: Fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth. {ECO:0000269 PubMed:16200072, ECO:0000269 PubMed:16835905, ECO:0000269 PubMed:19197337, ECO:0000269 PubMed:19617216, ECO:0000269 PubMed:19634183, ECO:0000269 PubMed:19938078, ECO:0000269 PubMed:22495880, ECO:0000269 PubMed:23566849, ECO:0000269 PubMed:23733939, ECO:0000269 PubMed:23773965, ECO:0000269 PubMed:24375680, ECO:0000269 PubMed:24798265, ECO:0000269 PubMed:25505245, ECO:0000269 PubMed:25788519, ECO:0000269 PubMed:28918368}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]: Autosomal recessive disease of lysosomal enzyme targeting. Clinically MLIII is characterized by restricted joint mobility, skeletal dysplasia, and short stature. Mildly coarsened facial features and thickening of the skin have been described. Cardiac valvular disease and corneal clouding may also occur. Half of the reported patients show learning disabilities or mental retardation. {ECO:0000269 PubMed:16094673, ECO:0000269 PubMed:16465621, ECO:0000269 PubMed:16630736, ECO:0000269 PubMed:17034777, ECO:0000269 PubMed:19197337, ECO:0000269 PubMed:19617216, ECO:0000269 PubMed:19634183, ECO:0000269 PubMed:19938078, ECO:0000269 PubMed:23566849, ECO:0000269 PubMed:24045841, ECO:0000269 PubMed:24375680, ECO:0000269 PubMed:24550498, ECO:0000269 PubMed:25505245, ECO:0000269 PubMed:25788519, ECO:0000269 PubMed:28918368}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Genetic variations in GNPTAB have been suggested to play a role in susceptibility to persistent stuttering. Stuttering is a common speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech. {ECO:0000269 PubMed:20147709}.

Additional Disease Information for GNPTAB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for GNPTAB Gene

  1. Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. (PMID: 19197337) Otomo T … Sakai N (Journal of human genetics 2009) 3 4 23 41
  2. Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. (PMID: 20147709) Kang C … Drayna D (The New England journal of medicine 2010) 3 4 23
  3. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. (PMID: 19617216) Cathey SS … Friez MJ (Journal of medical genetics 2010) 3 4 41
  4. Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III. (PMID: 19938078) Zarghooni M … Dittakavi SS (American journal of medical genetics. Part A 2009) 3 4 23
  5. Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients. (PMID: 19634183) Tappino B … Filocamo M (Human mutation 2009) 3 4 23

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