Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive spinocerebellar ataxia 2 | | ISO | PMPCA (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive spinocerebellar ataxia 2 | | ISO | PMPCA (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | 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. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
3. | A putative metal-binding site in the beta subunit of rat mitochondrial processing peptidase is essential for its catalytic activity. | Kitada S, etal., J Biochem. 1995 Jun;117(6):1148-50. |
4. | The general mitochondrial matrix processing protease from rat liver: structural characterization of the catalytic subunit. | Kleiber J, etal., Proc Natl Acad Sci U S A 1990 Oct;87(20):7978-82. |
5. | Processing of mitochondrial presequences. | Mossmann D, etal., Biochim Biophys Acta. 2012 Sep-Oct;1819(9-10):1098-106. doi: 10.1016/j.bbagrm.2011.11.007. Epub 2011 Dec 7. |
6. | NCBI rat LocusLink and RefSeq merged data October 15, 2003 | NCBI rat LocusLink and RefSeq merged data October 15, 2003 |
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 |
PMID:12477932 | PMID:18614015 | PMID:22354088 | PMID:22664934 | PMID:25808372 | PMID:31505169 |
Pmpca (Rattus norvegicus - Norway rat) |
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PMPCA (Homo sapiens - human) |
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Pmpca (Mus musculus - house mouse) |
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Pmpca (Chinchilla lanigera - long-tailed chinchilla) |
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PMPCA (Pan paniscus - bonobo/pygmy chimpanzee) |
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PMPCA (Canis lupus familiaris - dog) |
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Pmpca (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PMPCA (Sus scrofa - pig) |
No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
PMPCA (Chlorocebus sabaeus - green monkey) |
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Pmpca (Heterocephalus glaber - naked mole-rat) |
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Variants in Pmpca
25 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 |
RH142014 |
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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 | 43 | 57 | 41 | 19 | 41 | 8 | 11 | 74 | 35 | 41 | 11 | 8 |
Low | |||||||||||||
Below cutoff |
RefSeq Transcripts | NM_001003673 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_017591640 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039104724 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063283471 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC129824 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
BC079004 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CB806391 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH474001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M57728 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000031607 ⟹ ENSRNOP00000037642 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000031622 ⟹ ENSRNOP00000038295 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000105584 ⟹ ENSRNOP00000090125 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000108671 ⟹ ENSRNOP00000091234 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001003673 ⟹ NP_001003673 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039104724 ⟹ XP_038960652 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063283471 ⟹ XP_063139541 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001003673 | (Get FASTA) | NCBI Sequence Viewer |
XP_038960652 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063139541 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA41632 | (Get FASTA) | NCBI Sequence Viewer |
AAH79004 | (Get FASTA) | NCBI Sequence Viewer | |
EDL93500 | (Get FASTA) | NCBI Sequence Viewer | |
EDL93501 | (Get FASTA) | NCBI Sequence Viewer | |
EDL93502 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000037642 | ||
ENSRNOP00000037642.2 | |||
ENSRNOP00000038295.5 | |||
ENSRNOP00000090125.1 | |||
ENSRNOP00000091234 | |||
ENSRNOP00000091234.1 | |||
GenBank Protein | P20069 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001003673 ⟸ NM_001003673 |
- UniProtKB: | Q68FX8 (UniProtKB/TrEMBL), A6JTE5 (UniProtKB/TrEMBL), F1M964 (UniProtKB/TrEMBL), F7F3I1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000038295 ⟸ ENSRNOT00000031622 |
RefSeq Acc Id: | ENSRNOP00000037642 ⟸ ENSRNOT00000031607 |
RefSeq Acc Id: | XP_038960652 ⟸ XM_039104724 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8I6AB79 (UniProtKB/TrEMBL), F1M964 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSRNOP00000091234 ⟸ ENSRNOT00000108671 |
RefSeq Acc Id: | ENSRNOP00000090125 ⟸ ENSRNOT00000105584 |
RefSeq Acc Id: | XP_063139541 ⟸ XM_063283471 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P20069-F1-model_v2 | AlphaFold | P20069 | 1-524 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13691903 | ||||||||
Promoter ID: | EPDNEW_R2428 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Pmpca_2 | ||||||||
Description: | peptidase, mitochondrial processing alpha subunit | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_R2430 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 13691912 | ||||||||
Promoter ID: | EPDNEW_R2430 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Pmpca_1 | ||||||||
Description: | peptidase, mitochondrial processing alpha subunit | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_R2428 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:727897 | AgrOrtholog |
BioCyc Gene | G2FUF-50381 | BioCyc |
Ensembl Genes | ENSRNOG00000026775 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000031607 | ENTREZGENE |
ENSRNOT00000031607.5 | UniProtKB/TrEMBL | |
ENSRNOT00000031622.6 | UniProtKB/TrEMBL | |
ENSRNOT00000105584.1 | UniProtKB/TrEMBL | |
ENSRNOT00000108671.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | Metalloenzyme, LuxS/M16 peptidase-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
IMAGE_CLONE | IMAGE:7112945 | IMAGE-MGC_LOAD |
InterPro | Metalloenz_LuxS/M16 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pept_M16_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pept_M16_Zn_BS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Peptidase_M16_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:296588 | UniProtKB/TrEMBL |
MGC_CLONE | MGC:93916 | IMAGE-MGC_LOAD |
NCBI Gene | 296588 | ENTREZGENE |
PANTHER | METALLOPROTEASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MITOCHONDRIAL-PROCESSING PEPTIDASE SUBUNIT ALPHA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Peptidase_M16 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Peptidase_M16_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Pmpca | PhenoGen |
PROSITE | INSULINASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RatGTEx | ENSRNOG00000026775 | RatGTEx |
Superfamily-SCOP | SSF63411 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A8I6AB79 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8I6GHY3_RAT | UniProtKB/TrEMBL | |
A6JTE5 | ENTREZGENE, UniProtKB/TrEMBL | |
A6JTE6_RAT | UniProtKB/TrEMBL | |
A6JTE7_RAT | UniProtKB/TrEMBL | |
F1M964 | ENTREZGENE, UniProtKB/TrEMBL | |
F7F3I1 | ENTREZGENE, UniProtKB/TrEMBL | |
MPPA_RAT | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q68FX8 | ENTREZGENE | |
UniProt Secondary | Q68FX8 | UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2019-12-06 | Pmpca | peptidase, mitochondrial processing subunit alpha | Pmpca | peptidase, mitochondrial processing alpha subunit | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2016-03-22 | Pmpca | peptidase, mitochondrial processing alpha subunit | Pmpca | peptidase (mitochondrial processing) alpha | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2004-09-10 | Pmpca | peptidase (mitochondrial processing) alpha | mitochondrial processing peptidase alpha subunit, mitochondrial precursor | Name updated | 1299863 | APPROVED |