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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Nerve Degeneration | | ISO | RGD:1350552 | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:19693665 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Nerve Degeneration | | ISO | RGD:1350552 | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:19693665 | |
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# | Reference Title | Reference Citation |
1. | A proposed clinical application of a model of CO2 laser radiation induced damage craters. | Canestri F, J Med Eng Technol. 1988 May-Jun;12(3):112-7. doi: 10.3109/03091908809030166. |
2. | 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. |
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 |
6. | EARP is a multisubunit tethering complex involved in endocytic recycling. | Schindler C, etal., Nat Cell Biol. 2015 May;17(5):639-50. doi: 10.1038/ncb3129. Epub 2015 Mar 23. |
7. | The EARP Complex and Its Interactor EIPR-1 Are Required for Cargo Sorting to Dense-Core Vesicles. | Topalidou I, etal., PLoS Genet. 2016 May 18;12(5):e1006074. doi: 10.1371/journal.pgen.1006074. eCollection 2016 May. |
8. | Identification, characterization and cytogenetic mapping of a yeast Vps54 homolog in rat and mouse. | Walter L, etal., Gene 2002 Feb 20;285(1-2):213-20. |
PMID:8815872 | PMID:11493023 | PMID:15878329 | PMID:19620288 | PMID:25795912 |
Vps54 (Rattus norvegicus - Norway rat) |
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VPS54 (Homo sapiens - human) |
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Vps54 (Mus musculus - house mouse) |
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Vps54 (Chinchilla lanigera - long-tailed chinchilla) |
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VPS54 (Pan paniscus - bonobo/pygmy chimpanzee) |
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VPS54 (Canis lupus familiaris - dog) |
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Vps54 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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VPS54 (Sus scrofa - pig) |
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VPS54 (Chlorocebus sabaeus - green monkey) |
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Vps54 (Heterocephalus glaber - naked mole-rat) |
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Variants in Vps54
555 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 |
RH138139 |
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AI454148 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 3 | 34 | 57 | 41 | 19 | 41 | 4 | 4 | 74 | 35 | 37 | 11 | 4 |
Low | 9 | 4 | 7 | 4 | 4 | ||||||||
Below cutoff |
RefSeq Transcripts | NM_173147 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006251537 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008770419 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008770421 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039091646 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039091647 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039091648 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039091649 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039091650 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001840999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_005492900 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC135757 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AJ010392 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH473996 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JACYVU010000254 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000010264 ⟹ ENSRNOP00000010264 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_173147 ⟹ NP_775170 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039091646 ⟹ XP_038947574 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039091647 ⟹ XP_038947575 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039091648 ⟹ XP_038947576 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039091649 ⟹ XP_038947577 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039091650 ⟹ XP_038947578 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_005492900 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Protein RefSeqs | NP_775170 | (Get FASTA) | NCBI Sequence Viewer |
XP_038947574 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038947575 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038947576 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038947577 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038947578 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | CAB96885 | (Get FASTA) | NCBI Sequence Viewer |
EDL97954 | (Get FASTA) | NCBI Sequence Viewer | |
Q9JMK8 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_775170 ⟸ NM_173147 |
- UniProtKB: | Q9JMK8 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000010264 ⟸ ENSRNOT00000010264 |
RefSeq Acc Id: | XP_038947574 ⟸ XM_039091646 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9JMK8 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_038947578 ⟸ XM_039091650 |
- Peptide Label: | isoform X4 |
- UniProtKB: | Q9JMK8 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_038947577 ⟸ XM_039091649 |
- Peptide Label: | isoform X3 |
- UniProtKB: | Q9JMK8 (UniProtKB/Swiss-Prot), G3V6Z1 (UniProtKB/TrEMBL), A6JQ37 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038947576 ⟸ XM_039091648 |
- Peptide Label: | isoform X2 |
- UniProtKB: | Q9JMK8 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_038947575 ⟸ XM_039091647 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9JMK8 (UniProtKB/Swiss-Prot) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9JMK8-F1-model_v2 | AlphaFold | Q9JMK8 | 1-965 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:628718 | AgrOrtholog |
BioCyc Gene | G2FUF-14834 | BioCyc |
Ensembl Genes | ENSRNOG00000007125 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Protein | ENSRNOP00000010264 | ENTREZGENE |
ENSRNOP00000010264.5 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSRNOT00000010264 | ENTREZGENE |
ENSRNOT00000010264.7 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.1280.130 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
6.10.250.860 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | Vps54 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Vps54_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
VPS54_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:286932 | UniProtKB/Swiss-Prot |
NCBI Gene | 286932 | ENTREZGENE |
PANTHER | PTHR12965 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
VACUOLAR PROTEIN SORTING-ASSOCIATED PROTEIN 54 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Vps54 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Vps54_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Vps54 | PhenoGen |
UniProt | A6JQ37 | ENTREZGENE, UniProtKB/TrEMBL |
G3V6Z1 | ENTREZGENE, UniProtKB/TrEMBL | |
Q9JMK8 | ENTREZGENE, UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2019-04-02 | Vps54 | VPS54 subunit of GARP complex | Vps54 | VPS54 GARP complex subunit | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2015-11-25 | Vps54 | VPS54 GARP complex subunit | Vps54 | vacuolar protein sorting 54 homolog (S. cerevisiae) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-09-25 | Vps54 | vacuolar protein sorting 54 homolog (S. cerevisiae) | Vps54 | vacuolar protein sorting 54 (yeast) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2005-11-17 | Vps54 | vacuolar protein sorting 54 (yeast) | Name updated | 1299863 | APPROVED | ||
2004-09-10 | Vps54 | Vps54-like | Vsp54 | Symbol and Name updated | 1299863 | APPROVED | |
2003-02-27 | Vsp54 | Vps54-like | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
Note Type | Note | Reference |
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gene_homology | homolog of yeast Vps54 | 619586 |