NPHP4_HUMAN - dbPTM
NPHP4_HUMAN - PTM Information in dbPTM
Basic Information of Protein
UniProt ID NPHP4_HUMAN
UniProt AC O75161
Protein Name Nephrocystin-4
Gene Name NPHP4
Organism Homo sapiens (Human).
Sequence Length 1426
Subcellular Localization Cytoplasm, cytoskeleton, cilium basal body . Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell junction, tight junction . Nucleus . In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach conflue
Protein Description Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. [PubMed: 19755384]
Protein Sequence MNDWHRIFTQNVLVPPHPQRARQPWKESTAFQCVLKWLDGPVIRQGVLEVLSEVECHLRVSFFDVTYRHFFGRTWKTTVKPTKRPPSRIVFNEPLYFHTSLNHPHIVAVVEVVAEGKKRDGSLQTLSCGFGILRIFSNQPDSPISASQDKRLRLYHGTPRALLHPLLQDPAEQNRHMTLIENCSLQYTLKPHPALEPAFHLLPENLLVSGLQQIPGLLPAHGESGDALRKPRLQKPITGHLDDLFFTLYPSLEKFEEELLELHVQDHFQEGCGPLDGGALEILERRLRVGVHNGLGFVQRPQVVVLVPEMDVALTRSASFSRKVVSSSKTSSGSQALVLRSRLRLPEMVGHPAFAVIFQLEYVFSSPAGVDGNAASVTSLSNLACMHMVRWAVWNPLLEADSGRVTLPLQGGIQPNPSHCLVYKVPSASMSSEEVKQVESGTLRFQFSLGSEEHLDAPTEPVSGPKVERRPSRKPPTSPSSPPAPVPRVLAAPQNSPVGPGLSISQLAASPRSPTQHCLARPTSQLPHGSQASPAQAQEFPLEAGISHLEADLSQTSLVLETSIAEQLQELPFTPLHAPIVVGTQTRSSAGQPSRASMVLLQSSGFPEILDANKQPAEAVSATEPVTFNPQKEESDCLQSNEMVLQFLAFSRVAQDCRGTSWPKTVYFTFQFYRFPPATTPRLQLVQLDEAGQPSSGALTHILVPVSRDGTFDAGSPGFQLRYMVGPGFLKPGERRCFARYLAVQTLQIDVWDGDSLLLIGSAAVQMKHLLRQGRPAVQASHELEVVATEYEQDNMVVSGDMLGFGRVKPIGVHSVVKGRLHLTLANVGHPCEQKVRGCSTLPPSRSRVISNDGASRFSGGSLLTTGSSRRKHVVQAQKLADVDSELAAMLLTHARQGKGPQDVSRESDATRRRKLERMRSVRLQEAGGDLGRRGTSVLAQQSVRTQHLRDLQVIAAYRERTKAESIASLLSLAITTEHTLHATLGVAEFFEFVLKNPHNTQHTVTVEIDNPELSVIVDSQEWRDFKGAAGLHTPVEEDMFHLRGSLAPQLYLRPHETAHVPFKFQSFSAGQLAMVQASPGLSNEKGMDAVSPWKSSAVPTKHAKVLFRASGGKPIAVLCLTVELQPHVVDQVFRFYHPELSFLKKAIRLPPWHTFPGAPVGMLGEDPPVHVRCSDPNVICETQNVGPGEPRDIFLKVASGPSPEIKDFFVIIYSDRWLATPTQTWQVYLHSLQRVDVSCVAGQLTRLSLVLRGTQTVRKVRAFTSHPQELKTDPKGVFVLPPRGVQDLHVGVRPLRAGSRFVHLNLVDVDCHQLVASWLVCLCCRQPLISKAFEIMLAAGEGKGVNKRITYTNPYPSRRTFHLHSDHPELLRFREDSFQVGGGETYTIGLQFAPSQRVGEEEILIYINDHEDKNEEAFCVKVIYQ
Overview of Protein Modification Sites with Functional and Structural Information
Experimental Post-Translational Modification Sites

* ASA = Accessible Surface Area

Locations Modification Substrate Peptides
&
Secondary Structure		 ASA (%) Reference Orthologous
Protein Cluster
137PhosphorylationFGILRIFSNQPDSPI
CEEEEECCCCCCCCC		31.9830266825
142PhosphorylationIFSNQPDSPISASQD
ECCCCCCCCCCCCCC		30.7130266825
145PhosphorylationNQPDSPISASQDKRL
CCCCCCCCCCCCCCH		25.8326657352
147PhosphorylationPDSPISASQDKRLRL
CCCCCCCCCCCCHHH		31.9229255136
150UbiquitinationPISASQDKRLRLYHG
CCCCCCCCCHHHHCC		45.7721906983
235UbiquitinationLRKPRLQKPITGHLD
CCCCCCCCCCCCCHH		42.87-
315PhosphorylationPEMDVALTRSASFSR
CCCCEEECCCCCCEE		16.91-
319PhosphorylationVALTRSASFSRKVVS
EEECCCCCCEEEEEC		25.6317081983
321PhosphorylationLTRSASFSRKVVSSS
ECCCCCCEEEEECCC		28.79-
329UbiquitinationRKVVSSSKTSSGSQA
EEEECCCCCCCCCHH		55.142190698
331PhosphorylationVVSSSKTSSGSQALV
EECCCCCCCCCHHHH		36.1221712546
424UbiquitinationPSHCLVYKVPSASMS
CCCEEEEECCCCCCC		39.94-
436UbiquitinationSMSSEEVKQVESGTL
CCCHHHHEECCCCCE		52.48-
448PhosphorylationGTLRFQFSLGSEEHL
CCEEEEEECCCCCCC		22.4927251275
451PhosphorylationRFQFSLGSEEHLDAP
EEEEECCCCCCCCCC		45.1427050516
459PhosphorylationEEHLDAPTEPVSGPK
CCCCCCCCCCCCCCC		55.4227732954
477PhosphorylationRPSRKPPTSPSSPPA
CCCCCCCCCCCCCCC		62.8930266825
478PhosphorylationPSRKPPTSPSSPPAP
CCCCCCCCCCCCCCC		28.6730266825
480PhosphorylationRKPPTSPSSPPAPVP
CCCCCCCCCCCCCCC		56.0730266825
481PhosphorylationKPPTSPSSPPAPVPR
CCCCCCCCCCCCCCC		37.9830266825
496PhosphorylationVLAAPQNSPVGPGLS
EEECCCCCCCCCCCC		18.7327050516
510PhosphorylationSISQLAASPRSPTQH
CHHHHCCCCCCCCCC		18.4225850435
513PhosphorylationQLAASPRSPTQHCLA
HHCCCCCCCCCCCCC		35.3729743597
621PhosphorylationKQPAEAVSATEPVTF
CCCHHHCCCCCCCCC		36.2028111955
623PhosphorylationPAEAVSATEPVTFNP
CHHHCCCCCCCCCCC		33.0628111955
627PhosphorylationVSATEPVTFNPQKEE
CCCCCCCCCCCCCCC		28.5428111955
731UbiquitinationMVGPGFLKPGERRCF
EECCCCCCCCCHHHH		49.03-
809UbiquitinationMLGFGRVKPIGVHSV
EECCCCCCCCCEEEE		29.56-
818UbiquitinationIGVHSVVKGRLHLTL
CCEEEEECCEEEEEE		35.84-
835UbiquitinationVGHPCEQKVRGCSTL
CCCCCCCCCCCCCCC		16.17-
847PhosphorylationSTLPPSRSRVISNDG
CCCCCCCCCEECCCC		34.9323684312
851PhosphorylationPSRSRVISNDGASRF
CCCCCEECCCCCCCC		26.4723684312
856PhosphorylationVISNDGASRFSGGSL
EECCCCCCCCCCCCE		39.1123684312
859PhosphorylationNDGASRFSGGSLLTT
CCCCCCCCCCCEEEC		40.9323186163
862PhosphorylationASRFSGGSLLTTGSS
CCCCCCCCEEECCCC		24.5923186163
865PhosphorylationFSGGSLLTTGSSRRK
CCCCCEEECCCCCCH		34.1129978859
866PhosphorylationSGGSLLTTGSSRRKH
CCCCEEECCCCCCHH		34.7329978859
868PhosphorylationGSLLTTGSSRRKHVV
CCEEECCCCCCHHHE		20.6929978859
869PhosphorylationSLLTTGSSRRKHVVQ
CEEECCCCCCHHHEE		37.1329978859
879UbiquitinationKHVVQAQKLADVDSE
HHHEEHHHHCCCCHH		48.97-
899UbiquitinationLTHARQGKGPQDVSR
HHHHHCCCCCCCCCC		60.11-
943PhosphorylationTSVLAQQSVRTQHLR
HHHHHCCHHHHHHHH		11.07-
1027UbiquitinationSQEWRDFKGAAGLHT
CHHCCCCCCCCCCCC		52.51-
1086UbiquitinationSPGLSNEKGMDAVSP
CCCCCCCCCCCCCCC		64.88-
1095UbiquitinationMDAVSPWKSSAVPTK
CCCCCCCCCCCCCCC		37.61-
1142PhosphorylationRFYHPELSFLKKAIR
HHHCHHHHHHHHHHC		27.2024719451
1145UbiquitinationHPELSFLKKAIRLPP
CHHHHHHHHHHCCCC		37.84-
1146UbiquitinationPELSFLKKAIRLPPW
HHHHHHHHHHCCCCC		51.71-
1197UbiquitinationEPRDIFLKVASGPSP
CCCCEEEEECCCCCH		25.63-
1203PhosphorylationLKVASGPSPEIKDFF
EEECCCCCHHHCEEE		38.40-
1215PhosphorylationDFFVIIYSDRWLATP
EEEEEEEECCCCCCC		15.4227251275
1249PhosphorylationAGQLTRLSLVLRGTQ
HHHHHHHHHHHCCCC		17.0924719451
1272UbiquitinationTSHPQELKTDPKGVF
CCCCHHCCCCCCCEE		50.56-
1332UbiquitinationCRQPLISKAFEIMLA
HCCHHHHHHHHHHHH		50.53-
1344UbiquitinationMLAAGEGKGVNKRIT
HHHHCCCCCCCCCEE		56.22-
1352PhosphorylationGVNKRITYTNPYPSR
CCCCCEEECCCCCCC		11.36-
1358PhosphorylationTYTNPYPSRRTFHLH
EECCCCCCCCEEEEC		28.66-
1378PhosphorylationLLRFREDSFQVGGGE
HHHEECCCEEECCCC		16.90-
Upstream regulatory proteins (kinases for phosphorylation sites, E3 ubiquitin ligases of ubiquitination sites, ...)
Modified Location Modified Residue Modification Type of Upstream Proteins Gene Name of Upstream Proteins UniProt AC of Upstream Proteins Sources

Oops, there are no upstream regulatory protein records of NPHP4_HUMAN !!
Functions of PTM Sites
Modified Location Modified Residue Modification Function Reference

Oops, there are no descriptions of PTM sites of NPHP4_HUMAN !!
Disease-associated PTM Sites based on SAP

* Distance = the distance between SAP position and PTM sites.

Modified Location Modification Variant Position
(Distance <= 10) 		Residue Change SAP Related Disease Reference

Oops, there are no SNP-PTM records of NPHP4_HUMAN !!
Protein-Protein Interaction
Interacting Protein Gene Name Interaction Type PPI Reference Domain-Domain Interactions
LATS1_HUMANLATS1physical
21555462
CE164_HUMANCEP164physical
22863007
DDB1_HUMANDDB1physical
22863007
RPGR1_HUMANRPGRIP1physical
25018096
JADE1_HUMANJADE1physical
22654112
AIP_HUMANAIPphysical
26638075
CYBP_HUMANCACYBPphysical
26638075
HS90A_HUMANHSP90AA1physical
26638075
HS90B_HUMANHSP90AB1physical
26638075
HS71L_HUMANHSPA1Lphysical
26638075
HSP72_HUMANHSPA2physical
26638075
INVS_HUMANINVSphysical
26638075
IRS4_HUMANIRS4physical
26638075
NPHP1_HUMANNPHP1physical
26638075
NUDC_HUMANNUDCphysical
26638075
NUDC2_HUMANNUDCD2physical
26638075
NUDC3_HUMANNUDCD3physical
26638075
RPAP3_HUMANRPAP3physical
26638075
TBB5_HUMANTUBBphysical
26638075
TBB2B_HUMANTUBB2Bphysical
26638075
TBB4B_HUMANTUBB4Bphysical
26638075
BAG2_HUMANBAG2physical
26638075
DNJC7_HUMANDNAJC7physical
26638075
FKBP4_HUMANFKBP4physical
26638075
HSP76_HUMANHSPA6physical
26638075
HSP7C_HUMANHSPA8physical
26638075
PIHD1_HUMANPIH1D1physical
26638075
STIP1_HUMANSTIP1physical
26638075
SGT1_HUMANSUGT1physical
26638075
TTC4_HUMANTTC4physical
26638075
TBAL3_HUMANTUBAL3physical
26638075
FTM_HUMANRPGRIP1Lphysical
27173435
TBB1_HUMANTUBB1physical
27173435
GKAP1_HUMANGKAP1physical
27173435
RP25L_HUMANRPP25Lphysical
27173435
TEFM_HUMANTEFMphysical
27173435
CLU_HUMANCLUHphysical
27173435
ECT2_HUMANECT2physical
27173435
RPGR_HUMANRPGRphysical
27173435
NEK4_HUMANNEK4physical
27173435
RAF1_HUMANRAF1physical
27173435
Drug and Disease Associations
Kegg Disease
There are no disease associations of PTM sites.
OMIM Disease
606966Nephronophthisis 4 (NPHP4)
Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including NPHP4, influence the clinical outcome.
606996
Kegg Drug
There are no disease associations of PTM sites.
DrugBank
There are no disease associations of PTM sites.
Regulatory Network of NPHP4_HUMAN

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