Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss | | ISO | PSMC1 (Homo sapiens) | 7240710 | | OMIM | | |
|
Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss | | ISO | PSMC1 (Homo sapiens) | 7240710 | | OMIM | | |
|
|
|
|
|
|
|
|
|
|
# | 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. | Structures of the rat proteasomal ATPases: determination of highly conserved structural motifs and rules for their spacing. | Makino Y, etal., Biochem Biophys Res Commun 1996 Mar 27;220(3):1049-54. |
3. | Multiple mammalian proteasomal ATPases, but not proteasome itself, are associated with TATA-binding protein and a novel transcriptional activator, TIP120. | Makino Y, etal., Genes Cells. 1999 Sep;4(9):529-39. |
4. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
5. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
6. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
7. | GOA pipeline | RGD automated data pipeline |
8. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
9. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
10. | Comprehensive gene review and curation | RGD comprehensive gene curation |
11. | 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. |
PMID:9688553 | PMID:15489334 | PMID:16857966 | PMID:17323924 | PMID:19946888 | PMID:20498273 | PMID:21630459 | PMID:22658674 | PMID:22871113 | PMID:23382946 | PMID:24625528 | PMID:30053369 |
PMID:31904090 | PMID:35352799 |
Psmc1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PSMC1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Psmc1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Psmc1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PSMC1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PSMC1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Psmc1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PSMC1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PSMC1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Psmc1 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in Psmc1
67 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 |
BE107583 |
|
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 | 43 | 57 | 41 | 19 | 41 | 8 | 11 | 74 | 35 | 41 | 11 | 8 |
Low | |||||||||||||
Below cutoff |
RefSeq Transcripts | NM_057123 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | BC063157 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CH473982 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D50696 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ209916 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000005329 ⟹ ENSRNOP00000005329 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | ENSRNOT00000113995 ⟹ ENSRNOP00000095712 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_057123 ⟹ NP_476464 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_476464 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAH63157 | (Get FASTA) | NCBI Sequence Viewer |
BAA09341 | (Get FASTA) | NCBI Sequence Viewer | |
EDL81712 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000005329 | ||
ENSRNOP00000005329.5 | |||
ENSRNOP00000095712.1 | |||
ENSRNOP00055020933 | |||
ENSRNOP00060005148 | |||
ENSRNOP00065018534 | |||
GenBank Protein | P62193 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_476464 ⟸ NM_057123 |
- UniProtKB: | P62193 (UniProtKB/Swiss-Prot), A6JEG8 (UniProtKB/TrEMBL), A0A8I6APJ8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000005329 ⟸ ENSRNOT00000005329 |
RefSeq Acc Id: | ENSRNOP00000095712 ⟸ ENSRNOT00000113995 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P62193-F1-model_v2 | AlphaFold | P62193 | 1-440 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13694774 | ||||||||
Promoter ID: | EPDNEW_R5298 | ||||||||
Type: | initiation region | ||||||||
Name: | Psmc1_1 | ||||||||
Description: | proteasome 26S subunit, ATPase 1 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | RGD:621097 | AgrOrtholog |
BioCyc Gene | G2FUF-36501 | BioCyc |
Ensembl Genes | ENSRNOG00000003951 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
ENSRNOG00055014985 | UniProtKB/Swiss-Prot | |
ENSRNOG00060004068 | UniProtKB/Swiss-Prot | |
ENSRNOG00065014401 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENSRNOT00000005329 | ENTREZGENE |
ENSRNOT00000005329.7 | UniProtKB/TrEMBL | |
ENSRNOT00000113995.1 | UniProtKB/TrEMBL | |
ENSRNOT00055025665 | UniProtKB/Swiss-Prot | |
ENSRNOT00060006845 | UniProtKB/Swiss-Prot | |
ENSRNOT00065023815 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.10.8.60 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
2.40.50.140 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
3.40.50.300 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
IMAGE_CLONE | IMAGE:6919865 | IMAGE-MGC_LOAD |
InterPro | AAA+_ATPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
AAA_lid_3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ATPase_AAA_core | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ATPase_AAA_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NA-bd_OB-fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
P-loop_NTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Prot_ATP_ID_OB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:117263 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MGC_CLONE | MGC:72724 | IMAGE-MGC_LOAD |
NCBI Gene | 117263 | ENTREZGENE |
PANTHER | 26S PROTEASOME REGULATORY SUBUNIT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
26S PROTEASOME REGULATORY SUBUNIT 4 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | AAA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
AAA_lid_3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Prot_ATP_ID_OB | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PSMC1 | RGD |
PhenoGen | Psmc1 | PhenoGen |
PROSITE | AAA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RatGTEx | ENSRNOG00000003951 | RatGTEx |
ENSRNOG00055014985 | RatGTEx | |
ENSRNOG00060004068 | RatGTEx | |
ENSRNOG00065014401 | RatGTEx | |
SMART | AAA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF52540 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A8I6APJ8 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8L2UHV1_RAT | UniProtKB/TrEMBL | |
A6JEG8 | ENTREZGENE, UniProtKB/TrEMBL | |
P62193 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | P49014 | UniProtKB/Swiss-Prot |
Q03527 | UniProtKB/Swiss-Prot | |
Q96AZ3 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-08-19 | Psmc1 | proteasome 26S subunit, ATPase 1 | Psmc1 | proteasome (prosome, macropain) 26S subunit, ATPase, 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-12-15 | Psmc1 | proteasome (prosome, macropain) 26S subunit, ATPase, 1 | Psmc1 | protease (prosome, macropain) 26S subunit, ATPase 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-02-22 | Psmc1 | protease (prosome, macropain) 26S subunit, ATPase 1 | Psmc1 | peptidase (prosome, macropain) 26S subunit, ATPase 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2005-01-20 | Psmc1 | peptidase (prosome, macropain) 26S subunit, ATPase 1 | protease (prosome, macropain) 26S subunit, ATPase 1 | Name updated | 1299863 | APPROVED | |
2002-08-07 | Psmc1 | protease (prosome, macropain) 26S subunit, ATPase 1 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |