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Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | nephrotic syndrome | | ISS | RGD:737511 | 13592920 | OMIM:256300 more ... | MouseDO | | |
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Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | nephrotic syndrome | | ISS | RGD:737511 | 13592920 | OMIM:256300 more ... | MouseDO | | |
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1. | Ahola H, etal., Am J Pathol 1999 Sep;155(3):907-13. |
2. | Babayeva S, etal., Am J Physiol Renal Physiol. 2011 Feb;300(2):F549-60. doi: 10.1152/ajprenal.00566.2009. Epub 2010 Jun 9. |
3. | Barletta GM, etal., J Biol Chem 2003 May 23;278(21):19266-71. Epub 2003 Mar 19. |
4. | Beltcheva O, etal., Hum Mutat 2001 May;17(5):368-73. |
5. | Bonnet F, etal., Clin Exp Hypertens 2002 Jul;24(5):371-81. |
6. | Devaraj S, etal., Arterioscler Thromb Vasc Biol. 2011 Aug;31(8):1796-804. doi: 10.1161/ATVBAHA.111.228924. Epub 2011 May 26. |
7. | Endlich N, etal., J Cell Mol Med. 2018 Nov;22(11):5265-5277. doi: 10.1111/jcmm.13762. Epub 2018 Aug 21. |
8. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
9. | GOA data from the GO Consortium |
10. | Hamano Y, etal., J Biol Chem 2002 Aug 23;277(34):31154-62. Epub 2002 May 30. |
11. | He JC, etal., J Am Soc Nephrol. 2007 Jan;18(1):93-102. doi: 10.1681/ASN.2006070727. Epub 2006 Dec 20. |
12. | Hiramatsu N, etal., J Am Soc Nephrol. 2007 Feb;18(2):515-27. doi: 10.1681/ASN.2006030217. Epub 2007 Jan 17. |
13. | Ito N, etal., Lab Invest. 2011 Nov;91(11):1584-95. doi: 10.1038/labinvest.2011.135. Epub 2011 Aug 29. |
14. | Kajiho Y, etal., FEBS J. 2012 Sep;279(17):3010-21. doi: 10.1111/j.1742-4658.2012.08682.x. Epub 2012 Jul 23. |
15. | Kawachi H, etal., Kidney Int 2000 May;57(5):1949-61. |
16. | Kawachi H, etal., Nephrol Dial Transplant 2002;17 Suppl 9:20-2. |
17. | Kelly DJ, etal., Nephrol Dial Transplant 2002 Jul;17(7):1327-32. |
18. | Lehtonen S, etal., Am J Pathol. 2004 Sep;165(3):923-36. |
19. | Lehtonen S, etal., Proc Natl Acad Sci U S A. 2005 Jul 12;102(28):9814-9. Epub 2005 Jul 1. |
20. | Liu G, etal., J Clin Invest 2003 Jul;112(2):209-21. |
21. | Mallipattu SK, etal., J Biol Chem. 2012 Jun 1;287(23):19122-35. doi: 10.1074/jbc.M112.345983. Epub 2012 Apr 9. |
22. | MGD data from the GO Consortium |
23. | Müller-Krebs S, etal., Eur J Clin Invest. 2008 May;38(5):296-305. doi: 10.1111/j.1365-2362.2008.01945.x. Epub 2008 Mar 16. |
24. | Nakatsue T, etal., Kidney Int. 2005 Jun;67(6):2239-53. |
25. | Nakhoul F, etal., Am J Physiol Renal Physiol. 2005 Oct;289(4):F880-90. Epub 2005 Jun 7. |
26. | Navarro-Muñoz M, etal., Nephrol Dial Transplant. 2011 Dec;26(12):3914-23. doi: 10.1093/ndt/gfr128. Epub 2011 Mar 17. |
27. | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
28. | Nugrahaningsih DA, etal., Hypertens Res. 2014 Mar;37(3):202-9. doi: 10.1038/hr.2013.143. Epub 2013 Oct 10. |
29. | OMIM Disease Annotation Pipeline |
30. | Putaala H, etal., J Am Soc Nephrol 2000 Jun;11(6):991-1001. |
31. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
32. | RGD automated import pipeline for gene-chemical interactions |
33. | Sakurai N, etal., Nephrol Dial Transplant. 2009 Aug;24(8):2378-83. doi: 10.1093/ndt/gfp012. Epub 2009 Feb 2. |
34. | Sato Y, etal., J Am Soc Nephrol. 2009 May;20(5):1041-52. doi: 10.1681/ASN.2007121328. Epub 2009 Apr 23. |
35. | Yang H, etal., Mol Metab. 2019 May;23:24-36. doi: 10.1016/j.molmet.2019.02.007. Epub 2019 Feb 26. |
36. | You H, etal., Am J Physiol Renal Physiol. 2013 Dec 15;305(12):F1719-27. doi: 10.1152/ajprenal.00141.2013. Epub 2013 Oct 30. |
37. | Yuan H, etal., Am J Physiol Renal Physiol 2002 Apr;282(4):F585-91. |
38. | Zhang Y, etal., Chin Med J (Engl). 2007 Jun 5;120(11):988-95. |
39. | Zhong Y, etal., PLoS One. 2011;6(11):e27945. doi: 10.1371/journal.pone.0027945. Epub 2011 Nov 18. |
PMID:11136707 | PMID:11562357 | PMID:12544453 | PMID:14633129 | PMID:15385636 | PMID:15465010 | PMID:15545998 | PMID:15579503 | PMID:15924139 | PMID:15979540 | PMID:16934223 | PMID:17429054 |
PMID:17457371 | PMID:17464107 | PMID:17545045 | PMID:17599973 | PMID:17667985 | PMID:17923684 | PMID:18033240 | PMID:18256598 | PMID:18258597 | PMID:19042927 | PMID:19052472 | PMID:19056867 |
PMID:19179337 | PMID:19443634 | PMID:19470472 | PMID:19948823 | PMID:20045917 | PMID:20629321 | PMID:21306299 | PMID:21402783 | PMID:21565142 | PMID:21858180 | PMID:22094487 | PMID:22809625 |
PMID:23376485 | PMID:25025298 | PMID:25298195 | PMID:25404734 | PMID:26539476 | PMID:27248136 | PMID:27995418 | PMID:29162887 |
Nphs1 (Rattus norvegicus - Norway rat) |
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NPHS1 (Homo sapiens - human) |
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Nphs1 (Mus musculus - house mouse) |
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Nphs1 (Chinchilla lanigera - long-tailed chinchilla) |
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NPHS1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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Nphs1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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NPHS1 (Chlorocebus sabaeus - African green monkey) |
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Nphs1 (Heterocephalus glaber - naked mole-rat) |
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D1Wox80 |
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PMC164293P1 |
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PMC164293P2 |
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The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
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. |
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 | 31 | 1 | |||||||||||
Low | 2 | 13 | 19 | 1 | 1 | 32 | 2 | 11 | 11 | 1 | |||
Below cutoff | 1 | 23 | 16 | 13 | 13 | 7 | 10 | 40 | 2 | 22 | 7 |
RefSeq Transcripts | NM_022628 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AF125521 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF161715 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF172255 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH473979 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JACYVU010000033 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000045212 ⟹ ENSRNOP00000049922 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_022628 ⟹ NP_072150 | ||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008759186 ⟹ XP_008757408 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_008759187 ⟹ XP_008757409 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_072150 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAF12734 | (Get FASTA) | NCBI Sequence Viewer |
AAF14884 | (Get FASTA) | NCBI Sequence Viewer | |
AAF91086 | (Get FASTA) | NCBI Sequence Viewer | |
EDM07757 | (Get FASTA) | NCBI Sequence Viewer | |
EDM07758 | (Get FASTA) | NCBI Sequence Viewer | |
Q9R044 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_072150 ⟸ NM_022628 |
- Peptide Label: | precursor |
- UniProtKB: | Q9R044 (UniProtKB/Swiss-Prot), A0A140TAG4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_008757408 ⟸ XM_008759186 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_008757409 ⟸ XM_008759187 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000049922 ⟸ ENSRNOT00000045212 |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
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Chromosome | Start Pos | End Pos | Reference Nucleotide | Variant Nucleotide | Variant Type | Strain |
1 | 90078282 | 90078283 | C | T | snv | LH/MavRrrc (KNAW), F344/Jcl (KyushuU), LN/MavRrrc (KNAW), SHR/NCrlPrin (KNAW), SHR/NHsd (KNAW), SHR/OlaIpcv (KNAW), SHR/OlaIpcvPrin (KNAW), SHRSP/Gcrc (KNAW), F344/NRrrc (Illumina) (KNAW), WKY/Gcrc (KNAW), WKY/N (KNAW), WKY/NCrl (KNAW), WKY/NHsd (KNAW), F344/NRrrc (SOLiD) (KNAW), F344/NCrl (KNAW), F344/NHsd (KNAW), GK/Ox (KNAW), LE/Stm (Illumina) (KNAW), LE/Stm (SOLiD) (KNAW), SDLEF7/Barth (UDEL), LE/OrlBarth (UDEL), Crl:SD (UDEL), NIG-III/Hok (KyushuU), F344/DuCrlCrlj (KyushuU), LE/Stm (KyushuU), F344/NSlc (KyushuU), F344/Stm (KyushuU), LEC/Tj (KyushuU), LL/MavRrrc (KNAW) |
Chromosome | Start Pos | End Pos | Reference Nucleotide | Variant Nucleotide | Variant Type | Strain |
1 | 88922891 | 88922892 | C | T | snv | F344/NRrrc (MCW), WKY/N (MCW), F344/NCrl (RGD), GK/Ox (RGD), LH/MavRrrc (RGD), LN/MavRrrc (RGD), WKY/NHsd (RGD), SHR/NHsd (RGD), SHRSP/Gcrc (RGD), WKY/NCrl (RGD), WKY/Gcrc (RGD), LL/MavRrrc (RGD) |
1 | 88926269 | 88926270 | G | A | snv | WKY/NHsd (RGD) |
Chromosome | Start Pos | End Pos | Reference Nucleotide | Variant Nucleotide | Variant Type | Strain |
1 | 85414950 | 85414951 | C | T | snv | SHR/OlaIpcv (ICL), F344/NHsd (ICAHN), F344/NRrrc (KNAW), LE/Stm (KNAW), WKY/N (KNAW), SHR/OlaIpcv (KNAW), F344/NCrl (ICL), LE/Stm (ICL), GK/Ox (ICL), LH/MavRrrc (ICL), LL/MavRrrc (ICL), LN/MavRrrc (ICL), SHR/OlaIpcv (ICL), SHR/NHsd (ICL), SHRSP/Gcrc (ICL), WKY/Gcrc (ICL), WKY/NHsd (ICL), WKY/NCrl (ICL), HCR/1Mco (UMich), LCR/1Mco (UMich), HCR/2Mco (UMich), LCR/2Mco (UMich), SHRSP/Gcrc (MDC) |
Database | Acc Id | Source(s) |
AGR Gene | RGD:620460 | AgrOrtholog |
Ensembl Genes | ENSRNOG00000020873 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Protein | ENSRNOP00000049922 | ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000045212 | ENTREZGENE, UniProtKB/TrEMBL |
Gene3D-CATH | 2.60.40.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
InterPro | CD80_C2-set | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
FN3_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FN3_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig-like_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig-like_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig-like_fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig_I-set | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig_sub | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ig_sub2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:64563 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 64563 | ENTREZGENE |
Pfam | C2-set_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
fn3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
I-set | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Nphs1 | PhenoGen |
PROSITE | FN3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
IG_LIKE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | FN3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
IGc2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SM00409 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF48726 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF49265 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A140TAG4 | ENTREZGENE, UniProtKB/TrEMBL |
NPHN_RAT | UniProtKB/Swiss-Prot, ENTREZGENE | |
UniProt Secondary | Q9JIX2 | UniProtKB/Swiss-Prot |
Q9QXX7 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2019-04-04 | Nphs1 | NPHS1 adhesion molecule, nephrin | Nphs1 | NPHS1 nephrin | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2016-02-17 | Nphs1 | NPHS1 nephrin | Nphs1 | nephrosis 1, congenital, Finnish type (nephrin) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2012-10-05 | Nphs1 | nephrosis 1, congenital, Finnish type (nephrin) | Nphs1 | nephrosis 1, congenital, Finnish type | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2011-07-06 | Nphs1 | nephrosis 1, congenital, Finnish type | Nphs1 | nephrosis 1 homolog (human) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2009-11-06 | Nphs1 | nephrosis 1 homolog (human) | Nphs1 | nephrosis 1 homolog, nephrin (human) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2004-12-14 | Nphs1 | nephrosis 1 homolog, nephrin (human) | nephrin | Name updated | 1299863 | APPROVED | |
2002-08-07 | Nphs1 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
Note Type | Note | Reference |
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gene_disease | human homolog is mutated in congenital nephrotic syndrome of the Finnish type | 633453 |