Aliases for GNPTAB Gene
Aliases for GNPTAB Gene
- N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta Subunits 2 3 5
- UDP-N-Acetylglucosamine-1-Phosphotransferase Subunits Alpha/Beta 3 4
- GlcNAc-1-Phosphotransferase Subunits Alpha/Beta 3 4
- Stealth Protein GNPTAB 3 4
- GNPTA 3 4
- Glucosamine (UDP-N-Acetyl)-Lysosomal-Enzyme N-Acetylglucosamine Phosphotransferase 3
- N-Acetylglucosamine-1-Phosphate Transferase, Alpha And Beta Subunits 2
External Ids for GNPTAB Gene
- HGNC: 29670
- Entrez Gene: 79158
- Ensembl: ENSG00000111670
- OMIM: 607840
- UniProtKB: Q3T906
Previous HGNC Symbols for GNPTAB Gene
- GNPTA
Previous GeneCards Identifiers for GNPTAB Gene
- GC12M100642
- GC12M100663
- GC12M102139
- GC12M099198
Summaries 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 Alpha And Beta Subunits) is a Protein Coding gene. Diseases associated with GNPTAB include Mucolipidosis Ii Alpha/Beta and Mucolipidosis Iii 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 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.
Additional gene information for GNPTAB Gene
- Monarch Initiative
- Search for GNPTAB at DataMed
- Search for GNPTAB at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNPTAB Gene
Genomics for GNPTAB Gene
GeneHancer (GH) Regulatory Elements for GNPTAB Gene
Promoters and enhancers for GNPTAB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around GNPTAB on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for GNPTAB Gene
Genomic Locations for GNPTAB Gene
- chr12:101,745,497-101,830,938
- (GRCh38/hg38)
- Size:
- 85,442 bases
- Orientation:
- Minus strand
- chr12:102,139,275-102,224,716
- (GRCh37/hg19)
Genomic View for GNPTAB Gene
Genes around GNPTAB on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q23.2 by Ensembl
- 12q23.2 by Entrez Gene
- 12q23.2 by HGNC
GNPTAB Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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 posLast=8383, isoforms=2114, isoforms=2148, posLast=179179, posLast=250250, posLast=614614, isoforms=699, isoforms=729, posLast=759759, posLast=782782, isoforms=789, posLast=813813, isoforms=829, posLast=844844, isoforms=873, isoforms=1009, isoforms=1098, and isoforms=1129
- Modification sites at PhosphoSitePlus
Other Protein References for GNPTAB Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for GNPTAB
- Novus Biologicals Antibodies for GNPTAB
- Invitrogen Antibodies for GNPTAB
- GeneTex GNPTAB antibody for GNPTAB
Protein Products
-
OriGene Purified Proteins for GNPTAB
- Search Origene for MassSpec and Protein Over-expression Lysates for GNPTAB
- Origene Custom Protein Services for GNPTAB
- Novus Biologicals lysates for GNPTAB
- antibodies-online: Search results for 4 available GNPTAB Proteins ranked by validation data
- Compare Top GNPTAB Proteins
-
Quality Products:
- Search GeneTex for Proteins for GNPTAB
Assay Products
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
Protein Domains for GNPTAB Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for GNPTAB Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q3T906UniProtKB/Swiss-Prot:
GNPTA_HUMAN :- The DMAP-interaction 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 DMAP-interaction domain mediates substrate recognition. It specifically recognizes a conformation-dependent protein determinant present in acid hydrolases (PubMed:23733939).
- Family:
-
- Belongs to the stealth family.
Function for GNPTAB Gene
Molecular function for GNPTAB Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose = UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose.
- 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.
Enzyme Numbers (IUBMB) for GNPTAB Gene
Phenotypes From GWAS Catalog for GNPTAB Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003976 | UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity | 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 | -- |
Phenotypes for GNPTAB Gene
- MGI mutant phenotypes for GNPTAB:
-
inferred from 4 alleles
- nervous system phenotype
- normal phenotype
- homeostasis/metabolism phenotype
- respiratory system phenotype
- muscle phenotype
- mortality/aging
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- integument phenotype
- hematopoietic system phenotype
- skeleton phenotype
- renal/urinary system phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for GNPTAB:
Animal Models for GNPTAB Gene
- MGI Knock Outs for GNPTAB:
-
- Gnptab tm1Dkji
Animal Model Products
-
Taconic Biosciences Mouse Models for GNPTAB
- Cyagen custom Knockout/knockin (KOKI) mouse models for GNPTAB
-
-
ViGene Biosciences lentiviral particle packaged cDNA for GNPTAB gene
-
ViGene Biosciences ready-to-package AAV shRNAs for GNPTAB gene
- Search ViGene Biosciences for GNPTAB
CRISPR Products
-
OriGene CRISPR knockouts for GNPTAB
- genomics-online: gRNA clones - Search results for 70 available GNPTAB gene related products
- Overview of 70 available GNPTAB gene related products
- Applied Biological Materials CRISPR for GNPTAB
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GNPTAB
- GenScript: Design CRISPR guide RNA sequences for GNPTAB
miRNA for GNPTAB Gene
- miRTarBase miRNAs that target GNPTAB
-
- hsa-mir-98-5p (MIRT027553)
- hsa-mir-615-3p (MIRT040448)
- hsa-mir-548aw (MIRT557565)
- hsa-mir-19b-3p (MIRT557566)
- hsa-mir-19a-3p (MIRT557567)
- hsa-mir-6739-5p (MIRT557568)
- hsa-mir-6733-5p (MIRT557569)
- hsa-mir-3153 (MIRT557570)
- hsa-mir-5093 (MIRT557571)
- hsa-mir-4668-5p (MIRT557572)
- hsa-mir-1468-3p (MIRT557573)
- hsa-mir-548x-5p (MIRT557574)
- hsa-mir-548g-5p (MIRT557575)
- hsa-mir-548f-5p (MIRT557576)
- hsa-mir-548aj-5p (MIRT557577)
- hsa-mir-548o-3p (MIRT557578)
- hsa-mir-1323 (MIRT557579)
- hsa-mir-454-3p (MIRT557580)
- hsa-mir-4295 (MIRT557581)
- hsa-mir-3666 (MIRT557582)
- hsa-mir-301b-3p (MIRT557583)
- hsa-mir-301a-3p (MIRT557584)
- hsa-mir-130b-3p (MIRT557585)
- hsa-mir-130a-3p (MIRT557586)
- hsa-mir-519c-3p (MIRT557587)
- hsa-mir-519b-3p (MIRT557588)
- hsa-mir-519a-3p (MIRT557589)
- hsa-mir-3646 (MIRT557590)
- hsa-mir-606 (MIRT557591)
- hsa-mir-93-5p (MIRT557592)
- hsa-mir-526b-3p (MIRT557593)
- hsa-mir-519d-3p (MIRT557594)
- hsa-mir-20b-5p (MIRT557595)
- hsa-mir-20a-5p (MIRT557596)
- hsa-mir-17-5p (MIRT557597)
- hsa-mir-106b-5p (MIRT557598)
- hsa-mir-106a-5p (MIRT557599)
- hsa-mir-548t-5p (MIRT557600)
- hsa-mir-548az-5p (MIRT557601)
- hsa-mir-5582-3p (MIRT557602)
- hsa-mir-548c-3p (MIRT557603)
- hsa-mir-1247-3p (MIRT761536)
- hsa-mir-25-5p (MIRT764223)
- hsa-mir-3160-3p (MIRT765119)
- hsa-mir-377-5p (MIRT767402)
- hsa-mir-4459 (MIRT769274)
- hsa-mir-4487 (MIRT769656)
- hsa-mir-455-3p (MIRT770328)
- hsa-mir-5186 (MIRT773496)
- hsa-mir-558 (MIRT774830)
- hsa-mir-6086 (MIRT775533)
- hsa-mir-6087 (MIRT775663)
- hsa-mir-6499-3p (MIRT776266)
- hsa-mir-6516-5p (MIRT777126)
- hsa-mir-658 (MIRT777342)
- hsa-mir-3065-5p (MIRT784486)
- hsa-mir-3129-3p (MIRT784598)
- hsa-mir-3529-3p (MIRT784915)
- hsa-mir-3613-3p (MIRT784949)
- hsa-mir-371a-5p (MIRT785299)
- hsa-mir-371b-5p (MIRT785306)
- hsa-mir-372-5p (MIRT785324)
- hsa-mir-373-5p (MIRT785341)
- hsa-mir-4264 (MIRT785554)
- hsa-mir-4797-3p (MIRT786821)
- hsa-mir-548ae-3p (MIRT787409)
- hsa-mir-548ah-3p (MIRT787419)
- hsa-mir-548aj-3p (MIRT787426)
- hsa-mir-548am-3p (MIRT787438)
- hsa-mir-548aq-3p (MIRT787457)
- hsa-mir-548j-3p (MIRT787546)
- hsa-mir-548x-3p (MIRT787587)
- hsa-mir-5571-5p (MIRT787640)
- hsa-mir-5583-5p (MIRT787673)
- hsa-mir-616-5p (MIRT788104)
miRNA Products
- Search ViGene Biosciences for GNPTAB
Inhibitory RNA Products
- Origene RNAi, shrna, and sirna products in human, mouse, rat for GNPTAB
- Browse OriGene Inhibitory RNA Products For GNPTAB
- genomics-online: shRNA clones - Search results for 70 available GNPTAB gene related products
- Overview of 70 available GNPTAB gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for GNPTAB gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for GNPTAB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for GNPTAB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for GNPTAB
- Applied Biological Materials Clones for GNPTAB
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for GNPTAB
-
ViGene Biosciences adenoviral particle packaged cDNA for GNPTAB gene
-
ViGene Biosciences lentiviral particle packaged cDNA for GNPTAB gene
-
ViGene Biosciences ready-to-package AAV shRNAs for GNPTAB gene
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.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| plasma membrane | 3 |
| lysosome | 2 |
| extracellular | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endosome | 1 |
- Golgi apparatus (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IDA | 23733939 |
| GO:0005794 | Golgi apparatus | IEA,IDA | 21719679 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for GNPTAB Gene
Pathways by source for GNPTAB Gene
1 KEGG pathway for GNPTAB Gene
Interacting Proteins for GNPTAB Gene
Selected Interacting proteins:
Q3T906-GNPTA_HUMAN
ENSP00000299314
for GNPTAB Gene via
IID
UniProtKB
STRING
| 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 | IMP | 19938078 |
| GO:0033299 | secretion of lysosomal enzymes | IEA | -- |
| GO:0046835 | carbohydrate phosphorylation | IDA | 19955174 |
No data available for SIGNOR curated interactions for GNPTAB Gene
Drugs & Compounds for GNPTAB Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Uridine diphosphate-N-acetylglucosamine |
|
528-04-1 |
|
Transcripts for GNPTAB Gene
mRNA/cDNA for GNPTAB Gene
- (5) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (146) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for GNPTAB Gene
CRISPR Products
-
OriGene CRISPR knockouts for GNPTAB
- genomics-online: gRNA clones - Search results for 70 available GNPTAB gene related products
- Overview of 70 available GNPTAB gene related products
- Applied Biological Materials CRISPR for GNPTAB
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GNPTAB
- GenScript: Design CRISPR guide RNA sequences for GNPTAB
miRNA Products
- Search ViGene Biosciences for GNPTAB
Inhibitory RNA Products
- Origene RNAi, shrna, and sirna products in human, mouse, rat for GNPTAB
- Browse OriGene Inhibitory RNA Products For GNPTAB
- genomics-online: shRNA clones - Search results for 70 available GNPTAB gene related products
- Overview of 70 available GNPTAB gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for GNPTAB gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for GNPTAB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for GNPTAB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for GNPTAB
- Applied Biological Materials Clones for GNPTAB
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for GNPTAB Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Blood (Hematopoietic System)
This gene is overexpressed in Bone marrow mesenchymal stem cell (50.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GNPTAB Gene
NURSA nuclear receptor signaling pathways regulating expression of GNPTAB Gene:
GNPTABSOURCE GeneReport for Unigene cluster for GNPTAB Gene:
Hs.46850mRNA 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(4.8)
- Liver(4.2)
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
Primer Products
-
OriGene qPCR primer pairs for GNPTAB
- genomics-online: primer clones - Search results for 70 available GNPTAB gene related products
- Overview of 70 available GNPTAB gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | GNPTAB 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | GNPTAB 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | GNPTAB 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Gnptab 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Gnptab 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | GNPTAB 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | GNPTAB 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | GNPTAB 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | GNPTAB 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | gnptab 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | gnptab 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG8027 34 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for GNPTAB was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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)
Paralogs for GNPTAB Gene
(37) SIMAP similar genes for GNPTAB Gene using alignment to 6 proteins:
Pseudogenes.org Pseudogenes for GNPTAB Gene
No data available for Paralogs for GNPTAB Gene
Variants for GNPTAB Gene
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs10219650 | likely-benign, Mucolipidosis, Type III Alpha/Beta, Mucolipidosis, Type II | 101,745,707(-) | T/C | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs1060499679 | likely-pathogenic, I cell disease, Pseudo-Hurler polydystrophy | 101,770,496(-) | TGGTG/TG | 5_prime_UTR_variant, coding_sequence_variant, inframe_deletion | |
| rs1060499680 | likely-pathogenic, I cell disease, Pseudo-Hurler polydystrophy | 101,768,036(-) | C/A/T | splice_donor_variant | |
| rs1060499681 | likely-pathogenic, I cell disease, Pseudo-Hurler polydystrophy | 101,764,303(-) | C/ | coding_sequence_variant, frameshift | |
| rs1060499684 | likely-pathogenic, I cell disease, Pseudo-Hurler polydystrophy | 101,753,525(-) | A/ | coding_sequence_variant, frameshift, genic_downstream_transcript_variant |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNPTAB Gene
Disorders for GNPTAB Gene
(11) MalaCards diseases for GNPTAB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mucolipidosis ii alpha/beta |
|
|
| mucolipidosis iii alpha/beta |
|
|
| inclusion-cell disease |
|
|
| mucolipidosis iii gamma |
|
|
| mucopolysaccharidosis, type iiia |
|
|
Search GNPTAB in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for GNPTAB Gene
Publications for GNPTAB Gene
- 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 22 44 58
- 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 44 58
- 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 22 58
- 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 22 58
- 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 22 58
Products for GNPTAB Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for GNPTAB
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for GNPTAB
- Search Origene for MassSpec and Protein Over-expression Lysates for GNPTAB
- Origene Custom Protein Services for GNPTAB
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GNPTAB
- Browse OriGene Inhibitory RNA Products For GNPTAB
- OriGene qPCR primer pairs for GNPTAB
- OriGene CRISPR knockouts for GNPTAB
- OriGene ORF clones in human for GNPTAB
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For GNPTAB
- GenScript: Next-day shipping of latest version cDNA ORF clones for GNPTAB in any vector
- GenScript Custom Purified and Recombinant Proteins Services for GNPTAB
- GenScript Custom Assay Services for GNPTAB
- GenScript Custom overexpressing Cell Line Services for GNPTAB
- GenScript: Design CRISPR guide RNA sequences for GNPTAB
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for GNPTAB
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for GNPTAB
- Novus Biologicals lysates for GNPTAB
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Taconic Biosciences Mouse Models for GNPTAB
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for GNPTAB
- Cyagen custom Knockout/knockin (KOKI) mouse models for GNPTAB
- VectorBuilder custom plasmid, inducible vectors for GNPTAB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for GNPTAB
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for GNPTAB
- antibodies-online: Search results for 37 available GNPTAB Antibodies ranked by validation data
- Compare Top GNPTAB Antibodies
- antibodies-online: Search results for available GNPTAB related products ranked by validation data
- antibodies-online: Search results for 4 available GNPTAB Proteins ranked by validation data
- Compare Top GNPTAB Proteins
- Quality Products:
- GeneTex GNPTAB antibody for GNPTAB
- Search GeneTex for Proteins for GNPTAB
- ViGene Biosciences adenoviral particle packaged cDNA for GNPTAB gene
- ViGene Biosciences lentiviral particle packaged cDNA for GNPTAB gene
- ViGene Biosciences ready-to-package AAV shRNAs for GNPTAB gene
- Search ViGene Biosciences for GNPTAB
- Horizon Cell Lines for GNPTAB
- genomics-online: cdna clones - Search results for 70 available GNPTAB gene related products
- Overview of 70 available GNPTAB gene related products
- orf clones - Search results for 70 available GNPTAB gene related products
- Overview of 70 available GNPTAB gene related products
- genomics-online: gRNA clones - Search results for 70 available GNPTAB gene related products
- Overview of 70 available GNPTAB gene related products
- genomics-online: primer clones - Search results for 70 available GNPTAB gene related products
- Overview of 70 available GNPTAB gene related products
- genomics-online: shRNA clones - Search results for 70 available GNPTAB gene related products
- Overview of 70 available GNPTAB gene related products
Sources for GNPTAB Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems