Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | dystonia 37, early-onset with striatal lesions | | ISO | NUP54 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | dystonia 37, early-onset with striatal lesions | | ISO | NUP54 (Homo sapiens) | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Regulation of mRNA trafficking by nuclear pore complexes. | Bonnet A and Palancade B, Genes (Basel). 2014 Sep 2;5(3):767-91. doi: 10.3390/genes5030767. |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12466851 | PMID:12477932 | PMID:12520002 | PMID:12791264 | PMID:12904583 | PMID:14610273 | PMID:15489334 | PMID:15782199 |
PMID:16141072 | PMID:16141073 | PMID:18554416 | PMID:21873635 | PMID:31146259 |
Nup54 (Mus musculus - house mouse) |
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NUP54 (Homo sapiens - human) |
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Nup54 (Rattus norvegicus - Norway rat) |
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Nup54 (Chinchilla lanigera - long-tailed chinchilla) |
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NUP54 (Pan paniscus - bonobo/pygmy chimpanzee) |
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NUP54 (Canis lupus familiaris - dog) |
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Nup54 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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NUP54 (Sus scrofa - pig) |
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NUP54 (Chlorocebus sabaeus - green monkey) |
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Nup54 (Heterocephalus glaber - naked mole-rat) |
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Variants in Nup54
971 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 |
AI060908 |
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RefSeq Transcripts | NM_001359995 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_183392 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006534958 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006534959 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017320895 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_030254531 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_004942520 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC122365 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK014260 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK087827 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK088855 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK133841 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK150182 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK150841 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK151896 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK152136 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK162037 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK207248 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC044303 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC068114 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BQ032638 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466617 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CJ049542 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000038514 ⟹ ENSMUSP00000046540 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000122893 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000123694 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000130156 ⟹ ENSMUSP00000120937 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000135112 ⟹ ENSMUSP00000117237 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000142525 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000146470 ⟹ ENSMUSP00000121171 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000201228 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001359995 ⟹ NP_001346924 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_183392 ⟹ NP_899248 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006534958 ⟹ XP_006535021 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006534959 ⟹ XP_006535022 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017320895 ⟹ XP_017176384 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_030254531 ⟹ XP_030110391 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_004942520 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001346924 | (Get FASTA) | NCBI Sequence Viewer |
NP_899248 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006535021 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006535022 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017176384 | (Get FASTA) | NCBI Sequence Viewer | |
XP_030110391 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH68114 | (Get FASTA) | NCBI Sequence Viewer |
BAC40018 | (Get FASTA) | NCBI Sequence Viewer | |
BAC40615 | (Get FASTA) | NCBI Sequence Viewer | |
BAE21878 | (Get FASTA) | NCBI Sequence Viewer | |
BAE36693 | (Get FASTA) | NCBI Sequence Viewer | |
EDL05249 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000046540 | ||
ENSMUSP00000046540.9 | |||
ENSMUSP00000117237.2 | |||
ENSMUSP00000120937.2 | |||
ENSMUSP00000121171.2 | |||
GenBank Protein | Q8BTS4 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_899248 ⟸ NM_183392 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q3TSI2 (UniProtKB/Swiss-Prot), Q8BU42 (UniProtKB/Swiss-Prot), Q8BTS4 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006535022 ⟸ XM_006534959 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | XP_006535021 ⟸ XM_006534958 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_017176384 ⟸ XM_017320895 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | NP_001346924 ⟸ NM_001359995 |
- Peptide Label: | isoform 1 |
RefSeq Acc Id: | XP_030110391 ⟸ XM_030254531 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | ENSMUSP00000120937 ⟸ ENSMUST00000130156 |
RefSeq Acc Id: | ENSMUSP00000121171 ⟸ ENSMUST00000146470 |
RefSeq Acc Id: | ENSMUSP00000117237 ⟸ ENSMUST00000135112 |
RefSeq Acc Id: | ENSMUSP00000046540 ⟸ ENSMUST00000038514 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8BTS4-F1-model_v2 | AlphaFold | Q8BTS4 | 1-510 | view protein structure |
RGD ID: | 6887182 | ||||||||
Promoter ID: | EPDNEW_M7042 | ||||||||
Type: | initiation region | ||||||||
Name: | Nup54_1 | ||||||||
Description: | Mus musculus nucleoporin 54 , transcript variant 2, 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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RGD ID: | 6837971 | ||||||||
Promoter ID: | MM_KWN:42902 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | 3T3L1_Day0, 3T3L1_Day1, 3T3L1_Day2, 3T3L1_Day3, 3T3L1_Day4, 3T3L1_Day6, BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain, ES_Cell, Kidney, Liver, Lung, MEF_B4, MEF_B6, Spleen | ||||||||
Transcripts: | OTTMUST00000071193, OTTMUST00000071221, OTTMUST00000071222, OTTMUST00000071223, OTTMUST00000071224, UC008YDL.1 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:1920460 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000034826 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000038514 | ENTREZGENE |
ENSMUST00000038514.15 | UniProtKB/Swiss-Prot | |
ENSMUST00000130156.2 | UniProtKB/TrEMBL | |
ENSMUST00000135112.8 | UniProtKB/TrEMBL | |
ENSMUST00000146470.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.5.170 | UniProtKB/Swiss-Prot |
Single helix bin | UniProtKB/Swiss-Prot | |
InterPro | Nup54/Nup57/Nup44 | UniProtKB/Swiss-Prot |
Nup54_alpha-helical_dom | UniProtKB/Swiss-Prot | |
Nup54_C | UniProtKB/Swiss-Prot | |
KEGG Report | mmu:269113 | UniProtKB/Swiss-Prot |
MGD | MGI:1920460 | ENTREZGENE |
NCBI Gene | 269113 | ENTREZGENE |
PANTHER | NUCLEOPORIN P54 | UniProtKB/Swiss-Prot |
PTHR13000 | UniProtKB/Swiss-Prot | |
Pfam | Nup54 | UniProtKB/Swiss-Prot |
Nup54_C | UniProtKB/Swiss-Prot | |
PhenoGen | Nup54 | PhenoGen |
UniProt | D3Z5F5_MOUSE | UniProtKB/TrEMBL |
D6RFN7_MOUSE | UniProtKB/TrEMBL | |
F6UKR5_MOUSE | UniProtKB/TrEMBL | |
NUP54_MOUSE | UniProtKB/Swiss-Prot | |
Q3TSI2 | ENTREZGENE | |
Q8BTS4 | ENTREZGENE | |
Q8BU42 | ENTREZGENE | |
UniProt Secondary | Q3TSI2 | UniProtKB/Swiss-Prot |
Q8BU42 | UniProtKB/Swiss-Prot |