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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Hailey-Hailey disease | | ISO | RGD:733912 | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:11450592 more ... | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Hailey-Hailey disease | | ISO | RGD:733912 | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:11450592 more ... | |
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# | Reference Title | Reference Citation |
1. | Calcium pumps in health and disease. | Brini M and Carafoli E, Physiol Rev. 2009 Oct;89(4):1341-78. doi: 10.1152/physrev.00032.2008. |
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. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
4. | Molecular cloning and tissue distribution of alternatively spliced mRNAs encoding possible mammalian homologues of the yeast secretory pathway calcium pump. | Gunteski-Hamblin AM, etal., Biochemistry 1992 Aug 25;31(33):7600-8. |
5. | Changes in expression and activity of the secretory pathway Ca2+ ATPase 1 (SPCA1) in A7r5 vascular smooth muscle cells cultured at different glucose concentrations. | Lai P and Michelangeli F, Biosci Rep. 2009 Sep 2;29(6):397-404. doi: 10.1042/BSR20090058. |
6. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
7. | Role for plasma membrane-related Ca2+-ATPase-1 (ATP2C1) in pancreatic beta-cell Ca2+ homeostasis revealed by RNA silencing. | Mitchell KJ, etal., Diabetes. 2004 Feb;53(2):393-400. |
8. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
9. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
10. | RefSeq and LocusLink: NCBI gene-centered resources | Pruitt KD and Maglott DR, Nucleic Acids Res. 2001 Jan 1;29(1):137-40. |
11. | Characterization of Cos-7 cells overexpressing the rat secretory pathway Ca2+-ATPase. | Reinhardt TA, etal., Am J Physiol Cell Physiol. 2004 Jan;286(1):C164-9. Epub 2003 Sep 10. |
12. | GOA pipeline | RGD automated data pipeline |
13. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
14. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
15. | The expression, activity and localisation of the secretory pathway Ca2+ -ATPase (SPCA1) in different mammalian tissues. | Wootton LL, etal., Biochim Biophys Acta. 2004 Aug 30;1664(2):189-97. |
PMID:10615129 | PMID:11741891 | PMID:12477932 | PMID:12707275 | PMID:12761501 | PMID:12804581 | PMID:12810057 | PMID:14632182 | PMID:14632183 | PMID:16192278 | PMID:16758324 | PMID:19946888 |
PMID:20981470 | PMID:22871113 | PMID:23840669 | PMID:27133772 |
Atp2c1 (Rattus norvegicus - Norway rat) |
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ATP2C1 (Homo sapiens - human) |
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Atp2c1 (Mus musculus - house mouse) |
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Atp2c1 (Chinchilla lanigera - long-tailed chinchilla) |
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ATP2C1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ATP2C1 (Canis lupus familiaris - dog) |
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Atp2c1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ATP2C1 (Sus scrofa - pig) |
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ATP2C1 (Chlorocebus sabaeus - green monkey) |
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Atp2c1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Atp2c1
655 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 |
D8Got171 |
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RH130674 |
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RH131266 |
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RH133189 |
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BE114010 |
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BF390084 |
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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 | 42 | 57 | 41 | 19 | 41 | 8 | 10 | 74 | 35 | 41 | 11 | 8 |
Low | 1 | 1 | |||||||||||
Below cutoff |
RefSeq Transcripts | NM_131907 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_039080728 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039080729 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039080730 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039080731 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039080733 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039080734 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039080735 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039080736 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_005487741 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | BC086994 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CH473954 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ214054 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ214433 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JACYVU010000200 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M93017 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M93018 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000018175 ⟹ ENSRNOP00000018175 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000045087 ⟹ ENSRNOP00000045953 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000095638 ⟹ ENSRNOP00000096296 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000097914 ⟹ ENSRNOP00000088420 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000099084 ⟹ ENSRNOP00000076661 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000102340 ⟹ ENSRNOP00000083761 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000103991 ⟹ ENSRNOP00000085864 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000112729 ⟹ ENSRNOP00000089204 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000119741 ⟹ ENSRNOP00000097217 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_131907 ⟹ NP_571982 | ||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039080728 ⟹ XP_038936656 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039080729 ⟹ XP_038936657 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039080730 ⟹ XP_038936658 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039080731 ⟹ XP_038936659 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039080733 ⟹ XP_038936661 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039080734 ⟹ XP_038936662 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039080735 ⟹ XP_038936663 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_039080736 ⟹ XP_038936664 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_005487741 | ||||||||
RefSeq Status: | |||||||||
Type: | NON-CODING | ||||||||
Position: |
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Protein RefSeqs | NP_571982 | (Get FASTA) | NCBI Sequence Viewer |
XP_038936656 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038936657 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038936658 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038936659 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038936661 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038936662 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038936663 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038936664 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA73341 | (Get FASTA) | NCBI Sequence Viewer |
AAA73342 | (Get FASTA) | NCBI Sequence Viewer | |
AAH86994 | (Get FASTA) | NCBI Sequence Viewer | |
EDL77343 | (Get FASTA) | NCBI Sequence Viewer | |
EDL77344 | (Get FASTA) | NCBI Sequence Viewer | |
Q64566 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_571982 ⟸ NM_131907 |
- UniProtKB: | Q5PQW5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000018175 ⟸ ENSRNOT00000018175 |
RefSeq Acc Id: | ENSRNOP00000045953 ⟸ ENSRNOT00000045087 |
RefSeq Acc Id: | XP_038936656 ⟸ XM_039080728 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038936657 ⟸ XM_039080729 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038936663 ⟸ XM_039080735 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_038936659 ⟸ XM_039080731 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038936662 ⟸ XM_039080734 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_038936658 ⟸ XM_039080730 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038936664 ⟸ XM_039080736 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_038936661 ⟸ XM_039080733 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8I6G9F5 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSRNOP00000097217 ⟸ ENSRNOT00000119741 |
RefSeq Acc Id: | ENSRNOP00000089204 ⟸ ENSRNOT00000112729 |
RefSeq Acc Id: | ENSRNOP00000096296 ⟸ ENSRNOT00000095638 |
RefSeq Acc Id: | ENSRNOP00000088420 ⟸ ENSRNOT00000097914 |
RefSeq Acc Id: | ENSRNOP00000076661 ⟸ ENSRNOT00000099084 |
RefSeq Acc Id: | ENSRNOP00000085864 ⟸ ENSRNOT00000103991 |
RefSeq Acc Id: | ENSRNOP00000083761 ⟸ ENSRNOT00000102340 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q64566-F1-model_v2 | AlphaFold | Q64566 | 1-919 | 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:621311 | AgrOrtholog |
BioCyc Gene | G2FUF-29272 | BioCyc |
Ensembl Genes | ENSRNOG00000013305 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Protein | ENSRNOP00000018175 | ENTREZGENE |
ENSRNOP00000018175.8 | UniProtKB/TrEMBL | |
ENSRNOP00000045953.6 | UniProtKB/TrEMBL | |
ENSRNOP00000076661.1 | UniProtKB/TrEMBL | |
ENSRNOP00000083761.1 | UniProtKB/TrEMBL | |
ENSRNOP00000085864 | ENTREZGENE | |
ENSRNOP00000085864.1 | UniProtKB/TrEMBL | |
ENSRNOP00000088420 | ENTREZGENE | |
ENSRNOP00000088420.1 | UniProtKB/TrEMBL | |
ENSRNOP00000089204.1 | UniProtKB/TrEMBL | |
ENSRNOP00000096296 | ENTREZGENE | |
ENSRNOP00000096296.1 | UniProtKB/TrEMBL | |
ENSRNOP00000097217.1 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSRNOT00000018175 | ENTREZGENE |
ENSRNOT00000018175.9 | UniProtKB/TrEMBL | |
ENSRNOT00000045087.6 | UniProtKB/TrEMBL | |
ENSRNOT00000095638 | ENTREZGENE | |
ENSRNOT00000095638.1 | UniProtKB/TrEMBL | |
ENSRNOT00000097914 | ENTREZGENE | |
ENSRNOT00000097914.1 | UniProtKB/TrEMBL | |
ENSRNOT00000099084.1 | UniProtKB/TrEMBL | |
ENSRNOT00000102340.1 | UniProtKB/TrEMBL | |
ENSRNOT00000103991 | ENTREZGENE | |
ENSRNOT00000103991.1 | UniProtKB/TrEMBL | |
ENSRNOT00000112729.1 | UniProtKB/TrEMBL | |
ENSRNOT00000119741.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.1110.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
3.40.50.1000 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Calcium-transporting ATPase, cytoplasmic transduction domain A | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Calcium-transporting ATPase, transmembrane domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
IMAGE_CLONE | IMAGE:7106233 | IMAGE-MGC_LOAD |
InterPro | ATPase_P-typ_cation-transptr_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ATPase_P-typ_cation-transptr_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ATPase_P-typ_cyto_dom_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ATPase_P-typ_P_site | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ATPase_P-typ_TM_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ATPase_P-typ_transduc_dom_A_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
HAD-like_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
HAD_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
P-type_ATPase_IIA_PMR1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
P_typ_ATPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
P_typ_ATPase_HD_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:170699 | UniProtKB/TrEMBL |
MGC_CLONE | MGC:93231 | IMAGE-MGC_LOAD |
NCBI Gene | 170699 | ENTREZGENE |
PANTHER | CALCIUM-TRANSPORTING ATPASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR42861:SF2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Cation_ATPase | UniProtKB/TrEMBL |
Cation_ATPase_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Cation_ATPase_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
E1-E2_ATPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Hydrolase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Atp2c1 | PhenoGen |
PRINTS | CATATPASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
HATPASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
NAKATPASE | UniProtKB/TrEMBL | |
PROSITE | ATPASE_E1_E2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SMART | Cation_ATPase_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF56784 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF81653 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF81660 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF81665 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TIGRFAMs | ATPase-IIA2_Ca | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ATPase_P-type | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A8I5Y5G2_RAT | UniProtKB/TrEMBL |
A0A8I6A4Z3_RAT | UniProtKB/TrEMBL | |
A0A8I6A662_RAT | UniProtKB/TrEMBL | |
A0A8I6A6R2_RAT | UniProtKB/TrEMBL | |
A0A8I6B5G9_RAT | UniProtKB/TrEMBL | |
A0A8I6G9F5 | ENTREZGENE, UniProtKB/TrEMBL | |
AT2C1_RAT | UniProtKB/Swiss-Prot | |
F1M281_RAT | UniProtKB/TrEMBL | |
F1M9B5_RAT | UniProtKB/TrEMBL | |
Q5PQW5 | ENTREZGENE, UniProtKB/TrEMBL | |
Q64566 | ENTREZGENE | |
UniProt Secondary | Q64567 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2021-03-09 | Atp2c1 | ATPase secretory pathway Ca2+ transporting 1 | LOC103690457 | uncharacterized LOC103690457 | Data Merged | 737654 | PROVISIONAL |
2016-02-17 | Atp2c1 | ATPase secretory pathway Ca2+ transporting 1 | Atp2c1 | ATPase, Ca++ transporting, type 2C, member 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2014-08-25 | LOC103690457 | uncharacterized LOC103690457 | Symbol and Name status set to provisional | 70820 | PROVISIONAL | ||
2008-06-27 | Atp2c1 | ATPase, Ca++ transporting, type 2C, member 1 | Atp2c1 | ATPase, Ca++-sequestering | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2004-02-26 | Atp2c1 | ATPase, Ca++-sequestering | Symbol and Name status set to approved | 625702 | APPROVED | ||
2002-08-07 | Atp2c1 | ATPase, Ca++-sequestering | Symbol and Name status set to provisional | 70820 | PROVISIONAL |