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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
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 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.
Additional gene information for GNPTAB Gene
- HGNC(29670)
- Entrez Gene(79158)
- Ensembl(ENSG00000111670)
- OMIM(607840)
- UniProtKB(Q3T906)
- Open Targets Platform(ENSG00000111670)
- 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 , Rfam classification and piRNA Summary for GNPTAB Gene
Genomics for GNPTAB Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GNPTAB Gene
- 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:
-
- 12q23.2 by HGNC
- 12q23.2 by Entrez Gene
- 12q23.2 by Ensembl
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 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
- NX_Q3T906 (NX_Q3T906-1)
- Modification sites at PhosphoSitePlus
-
Glycosylation from GlyConnect
- GNPTA_HUMAN (1532)
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 (AFLGC-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
- antibodies-online: Show 4 available GNPTAB Proteins ranked by validation data
- Compare Top GNPTAB Proteins
-
Quality 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:
-
- UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta (GNPTA_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q3T906UniProtKB/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.
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
| 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 | -- |
Phenotypes for GNPTAB Gene
- MGI mutant phenotypes for GNPTAB:
-
inferred from 5 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- normal phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- renal/urinary system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- skeleton phenotype
- hematopoietic system phenotype
- integument phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for GNPTAB:
Animal Models for GNPTAB Gene
- MGI Knock Outs for GNPTAB:
-
- Gnptab Gnptab<tm1Dkji>
Animal Model Products
-
Taconic Biosciences Mouse Models for GNPTAB
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GNPTAB - Select products 50% OFF >
- * GNPTAB CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GNPTAB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GNPTAB
-
Santa Cruz Biotechnology (SCBT) CRISPR for GNPTAB
miRNA for GNPTAB Gene
- miRTarBase miRNAs that target GNPTAB
-
- mmu-miR-340-5p (MIRT010346)
- mmu-miR-324-3p (MIRT010791)
- mmu-miR-15a-5p (MIRT011642)
- 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
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GNPTAB
- Browse OriGene Inhibitory RNA Products For GNPTAB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNPTAB
Clone Products
- Applied Biological Materials (abm): Clones for GNPTAB - Select products 50% OFF >
- * GNPTAB as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GNPTAB
- Addgene plasmids for GNPTAB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GNPTAB
Cell Line Products
-
Horizon Cell Lines 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.
| 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 |
- Golgi apparatus (3)
| 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 | -- |
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
UniProtKB
STRING
IID
GPS-Prot Interaction Network for GNPTAB
| 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 |
No data available for SIGNOR curated interactions for GNPTAB Gene
Drugs & Compounds for GNPTAB Gene
| 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 |
| 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
- 1 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000299314 5720 nts (view in UCSC)
- ENST00000392919 760 nts (view in UCSC)
- ENST00000549165 373 nts (view in UCSC)
- ENST00000549194 570 nts (view in UCSC)
- ENST00000549738 550 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GNPTAB - Select products 50% OFF >
- * GNPTAB CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GNPTAB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GNPTAB
-
Santa Cruz Biotechnology (SCBT) CRISPR for GNPTAB
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GNPTAB
- Browse OriGene Inhibitory RNA Products For GNPTAB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNPTAB
Clone Products
- Applied Biological Materials (abm): Clones for GNPTAB - Select products 50% OFF >
- * GNPTAB as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GNPTAB
- Addgene plasmids for GNPTAB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GNPTAB
Relevant External Links for GNPTAB Gene
- GeneLoc Exon Structure for
- GNPTAB
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, 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.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(4.9)
- 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
Primer Products
-
OriGene qPCR primer pairs for GNPTAB
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 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GNPTAB 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | GNPTAB 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Gnptab 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Gnptab 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | GNPTAB 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | GNPTAB 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | GNPTAB 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | GNPTAB 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gnptab 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | gnptab 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG8027 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
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 |
| 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
(16) MalaCards diseases for GNPTAB Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mucolipidosis iii alpha/beta |
|
|
| mucolipidosis ii alpha/beta |
|
|
| mucolipidosis |
|
|
| gnptab-related disorders |
|
|
| 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
- Open Targets Platform
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 23 41
- 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
- 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
- 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
- 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
ExternalLinks
Products for GNPTAB Gene
- Custom Antibody ServicesOriGene Antibodies for GNPTAB
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- Taconic Biosciences Mouse Models for GNPTAB
- Find your next knockout model in the Taconic Knockout Repository
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- Humanized Mice
- Invitrogen Antibodies for GNPTAB (AFLGC-GNPTAB)
- VectorBuilder Custom and pre-made DNA vectors for GNPTAB (ie. gene expression, shRNA knockdown, CRISPR)
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- VectorBuilder Stable cell line generation for GNPTAB
- Addgene plasmids for GNPTAB
- antibodies-online: Show 36 available GNPTAB Antibodies ranked by validation data
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- antibodies-online: Show 4 available GNPTAB Proteins ranked by validation data
- Compare Top GNPTAB Proteins
- Quality Products:
- Horizon Cell Lines for GNPTAB
- Browse GeneCopoeia Cell Lines
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for GNPTAB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GNPTAB
Sources for GNPTAB Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
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- (25) DrugBank
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- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
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- (55) TGDB
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- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
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- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
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- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
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- (115) NCBI Bookshelf
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