Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Gnptab | Rat | mucolipidosis II alpha/beta | | ISS | Gnptab (Mus musculus) | 13592920 | OMIM:252500 | MouseDO | | |
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Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Gnptab | Rat | mucolipidosis II alpha/beta | | ISS | Gnptab (Mus musculus) | 13592920 | OMIM:252500 | MouseDO | | |
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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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Variants in Gnptab
256 total Variants |
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. |
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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nervous system
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renal system
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reproductive system
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respiratory system
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9 | 11 | 49 | 113 | 91 | 90 | 59 | 25 | 59 | 6 | 218 | 97 | 93 | 45 | 60 | 31 |
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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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 | ENSRNOP00000006946.4 |
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) |
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, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000006946.8 | 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 | D3ZKE0 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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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 |