Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Gnptab | Rat | Desbuquois dysplasia | | ISO | GNPTAB (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Gnptab | Rat | Desbuquois dysplasia | | ISO | GNPTAB (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| # | Reference Title | Reference Citation |
| 1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 3. | GOA pipeline | RGD automated data pipeline |
| 4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| PMID:17652091 | PMID:19710420 | PMID:19938078 | PMID:19955174 | PMID:21719679 | PMID:23733939 | PMID:24375680 | PMID:25505245 | PMID:25788519 |
| Gnptab (Rattus norvegicus - Norway rat) |
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| GNPTAB (Homo sapiens - human) |
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| Gnptab (Mus musculus - house mouse) |
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| Gnptab (Chinchilla lanigera - long-tailed chinchilla) |
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| GNPTAB (Pan paniscus - bonobo/pygmy chimpanzee) |
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| GNPTAB (Canis lupus familiaris - dog) |
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| Gnptab (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| GNPTAB (Sus scrofa - pig) |
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| GNPTAB (Chlorocebus sabaeus - green monkey) |
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| Gnptab (Heterocephalus glaber - naked mole-rat) |
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| Gnptab (Rattus rattus - black rat) |
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Variants in Gnptab
316 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| BI291895 |
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| D3S1687 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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| 16 | 12 | 67 | 163 | 91 | 90 | 59 | 92 | 59 | 6 | 355 | 192 | 11 | 142 | 80 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001427158 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_001079967 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017595197 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017603409 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039080079 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC110966 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| JAXUCZ010000007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000006946 ⟹ ENSRNOP00000006946 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000131957 ⟹ ENSRNOP00000104098 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000162311 ⟹ ENSRNOP00000109162 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_001427158 ⟹ NP_001414087 | ||||||||
| RefSeq Status: | VALIDATED | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_017595197 ⟹ XP_017450686 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_039080079 ⟹ XP_038936007 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Protein RefSeqs | NP_001414087 | (Get FASTA) | NCBI Sequence Viewer |
| XP_017450686 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038936007 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000006946 | ||
| ENSRNOP00000006946.4 | |||
| ENSRNOP00000104098 | |||
| ENSRNOP00000104098.1 | |||
| ENSRNOP00000109162.1 |
| RefSeq Acc Id: | XP_017450686 ⟸ XM_017595197 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000006946 ⟸ ENSRNOT00000006946 |
| RefSeq Acc Id: | XP_038936007 ⟸ XM_039080079 |
| - Peptide Label: | isoform X2 |
| RefSeq Acc Id: | NP_001414087 ⟸ NM_001427158 |
| - UniProtKB: | D3ZKE0 (UniProtKB/TrEMBL) |
| Ensembl Acc Id: | ENSRNOP00000104098 ⟸ ENSRNOT00000131957 |
| Ensembl Acc Id: | ENSRNOP00000109162 ⟸ ENSRNOT00000162311 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-D3ZKE0-F1-model_v2 | AlphaFold | D3ZKE0 | 1-1228 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13695140 | ||||||||
| Promoter ID: | EPDNEW_R5651 | ||||||||
| Type: | initiation region | ||||||||
| Name: | Gnptab_1 | ||||||||
| Description: | N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
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| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1564821 | AgrOrtholog |
| BioCyc Gene | G2FUF-34512 | BioCyc |
| Ensembl Genes | ENSRNOG00000005228 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000006946 | ENTREZGENE |
| ENSRNOT00000006946.9 | UniProtKB/TrEMBL | |
| ENSRNOT00000131957 | ENTREZGENE | |
| ENSRNOT00000131957.1 | UniProtKB/TrEMBL | |
| ENSRNOT00000162311.1 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 3.30.300.320 | UniProtKB/TrEMBL |
| InterPro | DMAP1-bd | UniProtKB/TrEMBL |
| DUF3184 | UniProtKB/TrEMBL | |
| EF_Hand_1_Ca_BS | UniProtKB/TrEMBL | |
| EF_hand_Ca-bd | UniProtKB/TrEMBL | |
| GNPTAB_reg | UniProtKB/TrEMBL | |
| Notch_dom | UniProtKB/TrEMBL | |
| Notch_dom_like | UniProtKB/TrEMBL | |
| Stealth | UniProtKB/TrEMBL | |
| Stealth_CR1 | UniProtKB/TrEMBL | |
| Stealth_CR3 | UniProtKB/TrEMBL | |
| Stealth_CR4 | UniProtKB/TrEMBL | |
| NCBI Gene | 362865 | ENTREZGENE |
| PANTHER | N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE SUBUNITS ALPHA/BETA | UniProtKB/TrEMBL |
| PTHR24045 | UniProtKB/TrEMBL | |
| Pfam | DMAP_binding | UniProtKB/TrEMBL |
| DUF3184 | UniProtKB/TrEMBL | |
| GlcNAc-1_reg | UniProtKB/TrEMBL | |
| Notch | UniProtKB/TrEMBL | |
| Stealth_CR1 | UniProtKB/TrEMBL | |
| Stealth_CR3 | UniProtKB/TrEMBL | |
| Stealth_CR4 | UniProtKB/TrEMBL | |
| PhenoGen | Gnptab | PhenoGen |
| PROSITE | DMAP1_BIND | UniProtKB/TrEMBL |
| EF_HAND_1 | UniProtKB/TrEMBL | |
| EF_HAND_2 | UniProtKB/TrEMBL | |
| LNR | UniProtKB/TrEMBL | |
| RatGTEx | ENSRNOG00000005228 | RatGTEx |
| SMART | DMAP_binding | UniProtKB/TrEMBL |
| SM00004 | UniProtKB/TrEMBL | |
| Superfamily-SCOP | Notch_region | UniProtKB/TrEMBL |
| UniProt | A0ABK0LQN1_RAT | UniProtKB/TrEMBL |
| A0ABK0LSP2_RAT | UniProtKB/TrEMBL | |
| D3ZKE0 | ENTREZGENE, UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2018-05-25 | Gnptab | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Gnptab | N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2008-03-06 | Gnptab | N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits | RGD1564821_predicted | similar to mKIAA1208 protein (predicted) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2006-03-07 | RGD1564821_predicted | similar to mKIAA1208 protein (predicted) | LOC362865 | similar to mKIAA1208 protein | Symbol and Name status set to approved | 1299863 | APPROVED |
| 2006-02-09 | LOC362865 | similar to mKIAA1208 protein | Symbol and Name status set to provisional | 70820 | PROVISIONAL |