| General Information |
| MoonProt ID | 467 |
| First appeared in release | 3.0 |
| Name(s) | NPHP4
Nephrocystin-4.
Recommended name:
Nephrocystin-4
Alternative name(s):
Nephroretinin |
| UniProt ID | P59240 (NPHP4_MOUSE) |
| GO terms | GO:0005911 cell-cell junction
GO:0030054 cell junction
GO:0042995 cell projection
GO:0005923 bicellular tight junction
GO:0005856 cytoskeleton
GO:0005929 cilium
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center |
| Organisms for which functions have been demonstrated | Mus musculus (Mouse, mammal) |
| Sequence length | 1425 amino acids |
| FASTA sequence | >sp|P59240|NPHP4_MOUSE Nephrocystin-4 OS=Mus musculus OX=10090 GN=Nphp4 PE=1 SV=2
MGDWHRAFTQNTLVPPHPQRARQLGKESTAFQCILKWLDGPLIKQGILDMLSELECHLRVTLFDVTYKHFFGRTWKTTVKPTNQPSKQPPRITFNEPLYFHTTLSHPSIVAVVEVVTEGRKRDGTLQLLSCGFGILRIFGNKPESPTSAAQDKRLRLYHGTPRALLHPLLQDPIEQNKFMRLMENCSLQYTLKPHPPLEPAFHLLPENLLVSGFQQIPGLLPPHGDTGDALRKPRFQKPTTWHLDDLFFTLYPSLEKFEEELVQLLISDREGVGLLDSGTLEVLERRLHVCVHNGLGFVQRPQVVVLVPEMDVALTRSASFSRKISASSKNSSGNQALVLRSHLRLPEMVSHPAFAIVFQLEYVFNSPSGADGGASSPTSISSVACMHMVRWAVWNPDLEVGPGKVTLPLQGGVQQNPSRCLVYKVPSASMSSEEVKQVESGTIQFQFSLSSDGPTEHANGPRVGRRSSRKMPASPSGTPAPAARDLAATQDSPVGPGLSLSQLTASPLSPALQSSSKPPLQPPDSSQSPEGPQLQAESVLESRVSHLEADLSQPASLQGTPAVEHLQELPFTPLHAPIVVGAQTRSSRSQLSRAAMVLLQSSGFPEILDASQQPVEAVNPIDPVRFNPQKEESDCLRGNEIVLQFLAFSRAAQDCPGTPWPQTVYFTFQFYRFPPETTPRLQLVKLDGTGKSGSGSLSHILVPINKDGSFDAGSPGLQLRYMVDPGFLKPGEQRWFAHYLAAQTLQVDVWDGDSLLLIGSAGVQMKHLLRQGRPAVQVSHELEVVATEYEQEMMAVSGDVAGFGSVKPIGVHTVVKGRLHLTLANVGHACEPRARGSNLLPPSRSRVISNDGASFFSGGSLLIPGGPKRKRVVQAQRLADVDSELAAMLLTHTRAGQGPQAAGQEADAVHKRKLERMRLVRLQEAGGDSDSRRISLLAQHSVRAQHSRDLQVIDAYRERTKAESIAGVLSQAITTHHTLYATLGTAEFFEFALKNPHNTQHTVAIEIDSPELSIILDSQEWRYFKEATGLHTPLEEDMFHLRGSLAPQLYLRPRETAHIPLKFQSFSVGPLAPTQAPAEVITEKDAESGPLWKCSAMPTKHAKVLFRVETGQLIAVLCLTVEPQPHVVDQVFRFYHPELTFLKKAIRLPPWHTLPGAPVGMPGEDPPVHVRCSDPNVICEAQNVGPGEPRDVFLKVASGPSPEIKDFFVVIYADRWLAVPVQTWQVCLHSLQRVDVSCVAGQLTRLSLVLRGTQTVRKVRAFTSHPQELKTDPAGVFVLPPHGVQDLHVGVRPRRAGSRFVHLNLVDIDYHQLVASWLVCLSCRQPLISKAFEITMAAGDEKGTNKRITYTNPYPSRRTYRLHSDRPELLRFKEDSFQVAGGETYTIGLRFLPSGSAGQEEILIYINDHEDKNEETFCVKVLYQ |
| Structure Information |
| PDB ID | NA |
| Quaternary structure | NA |
| SCOP | |
| CATH | |
| TM Helix Prediction | no TM helices
# sp|P59240|NPHP4_MOUSE Number of predicted TMHs: 0
# sp|P59240|NPHP4_MOUSE Exp number of AAs in TMHs: 0.01023
# sp|P59240|NPHP4_MOUSE Exp number, first 60 AAs: 0.00019
# sp|P59240|NPHP4_MOUSE Total prob of N-in: 0.00043
sp|P59240|NPHP4_MOUSE TMHMM2.0 outside 1 1425 |
| DisProt Annotation | |
| Predicted Disorder Regions | Predicted disorder at N terminus (aa 1-22), middle region (aa 81-92, 149-154, 222-234, 446-562, 621-624, 685-686, 893-911, 921-923, 1079-1082, 1348-1353), and C terminus (aa 1420-1425) |
| Connections to Disease |
| OMIM ID | |
| Function 1 |
| Function description | Mouse ciliary protien.
Required for building functional cilia. |
| References for function | Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat Genet. 2002 Oct;32(2):300-5. doi: 10.1038/ng996. Epub 2002 Sep 9. Erratum in: Nat Genet 2002 Nov;32(3):459. PMID: 12244321. |
| E.C. number | N/A |
| Location of functional site(s) | |
| Cellular location of function | cilium |
| Comments | |
| Function 2 |
| Function description | regulates NFkappaB signaling |
| References for function | McFie M, Koneva L, Collins I, Coveney CR, Clube AM, Chanalaris A, Vincent TL, Bezbradica JS, Sansom SN, Wann AK. Ciliary proteins specify the cell inflammatory response by tuning NFkB signaling, independently of primary cilia. Journal of Cell Science. 2020 Jan 1. PMID: 32503942 |
| E.C. number | |
| Location of functional site(s) | |
| Cellular location of function | cytoplasm |
| Comments | |