Imported Disease Annotations - MGIObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Gnptab | Mouse | mucolipidosis II alpha/beta | | IAGP | | 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 | Mouse | mucolipidosis II alpha/beta | | IAGP | | 13592920 | OMIM:252500 | MouseDO | | |
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# | Reference Title | Reference Citation |
1. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
2. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8001130 | PMID:8889548 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12466851 | PMID:12477932 | PMID:12904583 | PMID:14610273 | PMID:14681479 | PMID:15368895 |
PMID:15782199 | PMID:16141072 | PMID:16141073 | PMID:16299590 | PMID:17652091 | PMID:17962477 | PMID:19261645 | PMID:19710420 | PMID:19955174 | PMID:20472886 | PMID:21267068 | PMID:21325625 |
PMID:21677750 | PMID:21719679 | PMID:21792934 | PMID:21873635 | PMID:22961545 | PMID:23733939 | PMID:24127423 | PMID:25107912 | PMID:25314316 | PMID:25601403 | PMID:26273529 | PMID:26857995 |
PMID:27151663 | PMID:27239697 | PMID:28101008 | PMID:29467218 | PMID:31405983 | PMID:32290105 | PMID:32325033 | PMID:32554809 | PMID:33023972 | PMID:33574442 | PMID:34128834 | PMID:38355793 |
Gnptab (Mus musculus - house mouse) |
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GNPTAB (Homo sapiens - human) |
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Gnptab (Rattus norvegicus - Norway rat) |
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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
2376 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 |
D3S1687 |
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RefSeq Transcripts | NM_001004164 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001364707 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001421317 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001421318 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001421319 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006513849 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017314026 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC005501 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC125486 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK137090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK140867 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK154710 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK172435 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK173132 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK212941 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC060638 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ174150 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466539 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L36434 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSMUST00000020251 ⟹ ENSMUSP00000020251 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000127615 ⟹ ENSMUSP00000116915 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000130301 ⟹ ENSMUSP00000120643 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000132738 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000141343 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000151273 ⟹ ENSMUSP00000118025 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000155306 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001004164 ⟹ NP_001004164 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001364707 ⟹ NP_001351636 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001421317 ⟹ NP_001408246 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001421318 ⟹ NP_001408247 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001421319 ⟹ NP_001408248 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_006513849 ⟹ XP_006513912 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017314026 ⟹ XP_017169515 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001004164 | (Get FASTA) | NCBI Sequence Viewer |
NP_001351636 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001408246 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001408247 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001408248 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006513912 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017169515 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA65688 | (Get FASTA) | NCBI Sequence Viewer |
AAH60638 | (Get FASTA) | NCBI Sequence Viewer | |
BAD32410 | (Get FASTA) | NCBI Sequence Viewer | |
BAE24503 | (Get FASTA) | NCBI Sequence Viewer | |
BAE32779 | (Get FASTA) | NCBI Sequence Viewer | |
EDL21477 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000020251 | ||
ENSMUSP00000020251.8 | |||
ENSMUSP00000116915.2 | |||
ENSMUSP00000118025.2 | |||
ENSMUSP00000120643.2 | |||
GenBank Protein | Q69ZN6 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001004164 ⟸ NM_001004164 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q3U3K6 (UniProtKB/Swiss-Prot), Q3US34 (UniProtKB/Swiss-Prot), Q69ZN6 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006513912 ⟸ XM_006513849 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_017169515 ⟸ XM_017314026 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | NP_001351636 ⟸ NM_001364707 |
- Peptide Label: | isoform 2 |
Ensembl Acc Id: | ENSMUSP00000120643 ⟸ ENSMUST00000130301 |
Ensembl Acc Id: | ENSMUSP00000116915 ⟸ ENSMUST00000127615 |
Ensembl Acc Id: | ENSMUSP00000020251 ⟸ ENSMUST00000020251 |
Ensembl Acc Id: | ENSMUSP00000118025 ⟸ ENSMUST00000151273 |
RefSeq Acc Id: | NP_001408247 ⟸ NM_001421318 |
- Peptide Label: | isoform 4 |
RefSeq Acc Id: | NP_001408248 ⟸ NM_001421319 |
- Peptide Label: | isoform 5 |
RefSeq Acc Id: | NP_001408246 ⟸ NM_001421317 |
- Peptide Label: | isoform 3 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q69ZN6-F1-model_v2 | AlphaFold | Q69ZN6 | 1-1235 | view protein structure |
RGD ID: | 6819436 | ||||||||
Promoter ID: | MM_KWN:5278 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day3, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, Kidney, Liver, Lung, Spleen | ||||||||
Transcripts: | ENSMUST00000092244, OTTMUST00000079166, OTTMUST00000079167, OTTMUST00000079204, OTTMUST00000079206, OTTMUST00000079207, OTTMUST00000079212, UC007GRK.1 | ||||||||
Position: |
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RGD ID: | 6819392 | ||||||||
Promoter ID: | MM_KWN:5280 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | BoneMarrow_4Hour, Lung | ||||||||
Transcripts: | OTTMUST00000079209 | ||||||||
Position: |
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RGD ID: | 8672986 | ||||||||
Promoter ID: | EPDNEW_M14523 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Gnptab_1 | ||||||||
Description: | Mus musculus N-acetylglucosamine-1-phosphate transferase, alphaand beta subunits , mRNA. | ||||||||
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 | MGI:3643902 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000035311 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000020251 | ENTREZGENE |
ENSMUST00000020251.10 | UniProtKB/Swiss-Prot | |
ENSMUST00000127615.8 | UniProtKB/TrEMBL | |
ENSMUST00000130301.8 | UniProtKB/TrEMBL | |
ENSMUST00000151273.8 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.30.300.320 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
InterPro | DMAP1-bd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
EF_Hand_1_Ca_BS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
EF_hand_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GNPTAB_reg | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Notch-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Notch_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Stealth | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Stealth_CR1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Stealth_CR2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Stealth_CR3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Stealth_CR4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | mmu:432486 | UniProtKB/Swiss-Prot |
MGD | MGI:3643902 | ENTREZGENE |
NCBI Gene | 432486 | ENTREZGENE |
PANTHER | N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE SUBUNITS ALPHA/BETA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR24045 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | DMAP_binding | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GlcNAc-1_reg | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Notch | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Stealth_CR1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Stealth_CR2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Stealth_CR3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Stealth_CR4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Gnptab | PhenoGen |
PROSITE | DMAP1_BIND | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
EF_HAND_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
EF_HAND_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
LNR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | DMAP_binding | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SM00004 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF90193 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | D3YXC6_MOUSE | UniProtKB/TrEMBL |
D3Z1C3_MOUSE | UniProtKB/TrEMBL | |
D6RJ30_MOUSE | UniProtKB/TrEMBL | |
GNPTA_MOUSE | UniProtKB/Swiss-Prot | |
Q3U3K6 | ENTREZGENE | |
Q3US34 | ENTREZGENE | |
Q61340_MOUSE | UniProtKB/TrEMBL | |
Q69ZN6 | ENTREZGENE | |
Q6P9R5_MOUSE | UniProtKB/TrEMBL | |
UniProt Secondary | Q3U3K6 | UniProtKB/Swiss-Prot |
Q3US34 | UniProtKB/Swiss-Prot |