Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Nup54 | Rat | dystonia 37, early-onset with striatal lesions | | ISO | NUP54 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Nup54 | Rat | dystonia 37, early-onset with striatal lesions | | ISO | NUP54 (Homo sapiens) | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Gradient of increasing affinity of importin beta for nucleoporins along the pathway of nuclear import. | Ben-Efraim I and Gerace L, J Cell Biol. 2001 Jan 22;152(2):411-7. |
2. | 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. |
3. | 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. |
4. | Structural analysis of the p62 complex, an assembly of O-linked glycoproteins that localizes near the central gated channel of the nuclear pore complex. | Guan T, etal., Mol Biol Cell. 1995 Nov;6(11):1591-603. |
5. | Molecular and functional characterization of the p62 complex, an assembly of nuclear pore complex glycoproteins. | Hu T, etal., J Cell Biol 1996 Aug;134(3):589-601. |
6. | Allosteric Regulation in Gating the Central Channel of the Nuclear Pore Complex. | Koh J and Blobel G, Cell. 2015 Jun 4;161(6):1361-73. doi: 10.1016/j.cell.2015.05.013. |
7. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
8. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
9. | GOA pipeline | RGD automated data pipeline |
10. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
11. | Molecular architecture of the transport channel of the nuclear pore complex. | Solmaz SR, etal., Cell. 2011 Oct 28;147(3):590-602. doi: 10.1016/j.cell.2011.09.034. |
12. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
13. | The stoichiometry of the nucleoporin 62 subcomplex of the nuclear pore in solution. | Ulrich A, etal., Mol Biol Cell. 2014 May;25(9):1484-92. doi: 10.1091/mbc.E13-12-0745. Epub 2014 Feb 26. |
Nup54 (Rattus norvegicus - Norway rat) |
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NUP54 (Homo sapiens - human) |
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Nup54 (Mus musculus - house mouse) |
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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
83 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 |
D14Ulb1 |
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RH142315 |
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AI060908 |
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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_001433875 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001433877 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_017361 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_197599 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017599341 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC103535 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
BC078858 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH474060 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U63840 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSRNOT00000003070 ⟹ ENSRNOP00000003070 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSRNOT00000118729 ⟹ ENSRNOP00000081526 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_017361 ⟹ NP_059057 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017599341 ⟹ XP_017454830 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001420804 | (Get FASTA) | NCBI Sequence Viewer |
NP_001420806 | (Get FASTA) | NCBI Sequence Viewer | |
NP_059057 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017454830 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAC52790 | (Get FASTA) | NCBI Sequence Viewer |
AAH78858 | (Get FASTA) | NCBI Sequence Viewer | |
EDL88639 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000003070.3 | ||
ENSRNOP00000081526.1 | |||
ENSRNOP00055008217 | |||
ENSRNOP00060026231 | |||
ENSRNOP00065023903 | |||
GenBank Protein | P70582 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_059057 ⟸ NM_017361 |
- UniProtKB: | P70582 (UniProtKB/Swiss-Prot), A6KK71 (UniProtKB/TrEMBL), A0A8I5ZV73 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_017454830 ⟸ XM_017599341 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8I5ZV73 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSRNOP00000003070 ⟸ ENSRNOT00000003070 |
Ensembl Acc Id: | ENSRNOP00000081526 ⟸ ENSRNOT00000118729 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P70582-F1-model_v2 | AlphaFold | P70582 | 1-510 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13699209 | ||||||||
Promoter ID: | EPDNEW_R9734 | ||||||||
Type: | initiation region | ||||||||
Name: | Nup54_1 | ||||||||
Description: | nucleoporin 54 | ||||||||
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:619926 | AgrOrtholog |
BioCyc Gene | G2FUF-16266 | BioCyc |
Ensembl Genes | ENSRNOG00000002247 | Ensembl, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ENSRNOG00055006491 | UniProtKB/Swiss-Prot | |
ENSRNOG00060018670 | UniProtKB/Swiss-Prot | |
ENSRNOG00065017941 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENSRNOT00000003070.6 | UniProtKB/Swiss-Prot |
ENSRNOT00000118729.1 | UniProtKB/TrEMBL | |
ENSRNOT00055010575 | UniProtKB/Swiss-Prot | |
ENSRNOT00060032219 | UniProtKB/Swiss-Prot | |
ENSRNOT00065030066 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.20.5.170 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Single helix bin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
IMAGE_CLONE | IMAGE:7134682 | IMAGE-MGC_LOAD |
InterPro | Nup54/Nup57/Nup44 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Nup54_alpha-helical_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Nup54_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:53372 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MGC_CLONE | MGC:93519 | IMAGE-MGC_LOAD |
NCBI Gene | 53372 | ENTREZGENE |
PANTHER | NUCLEOPORIN P54 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR13000 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Nup54 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Nup54_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Nup54 | PhenoGen |
RatGTEx | ENSRNOG00000002247 | RatGTEx |
ENSRNOG00055006491 | RatGTEx | |
ENSRNOG00060018670 | RatGTEx | |
ENSRNOG00065017941 | RatGTEx | |
UniProt | A0A8I5ZV73 | ENTREZGENE, UniProtKB/TrEMBL |
A6KK71 | ENTREZGENE, UniProtKB/TrEMBL | |
NUP54_RAT | UniProtKB/Swiss-Prot, ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2005-01-20 | Nup54 | nucleoporin 54 | nucleoporin p54 | Name updated | 1299863 | APPROVED | |
2002-08-07 | Nup54 | nucleoporin p54 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |