NPHN_HUMAN - dbPTM
NPHN_HUMAN - PTM Information in dbPTM
Basic Information of Protein
UniProt ID NPHN_HUMAN
UniProt AC O60500
Protein Name Nephrin
Gene Name NPHS1
Organism Homo sapiens (Human).
Sequence Length 1241
Subcellular Localization Cell membrane
Single-pass type I membrane protein . Predominantly located at podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane.
Protein Description Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion (By similarity)..
Protein Sequence MALGTTLRASLLLLGLLTEGLAQLAIPASVPRGFWALPENLTVVEGASVELRCGVSTPGSAVQWAKDGLLLGPDPRIPGFPRYRLEGDPARGEFHLHIEACDLSDDAEYECQVGRSEMGPELVSPRVILSILVPPKLLLLTPEAGTMVTWVAGQEYVVNCVSGDAKPAPDITILLSGQTISDISANVNEGSQQKLFTVEATARVTPRSSDNRQLLVCEASSPALEAPIKASFTVNVLFPPGPPVIEWPGLDEGHVRAGQSLELPCVARGGNPLATLQWLKNGQPVSTAWGTEHTQAVARSVLVMTVRPEDHGAQLSCEAHNSVSAGTQEHGITLQVTFPPSAIIILGSASQTENKNVTLSCVSKSSRPRVLLRWWLGWRQLLPMEETVMDGLHGGHISMSNLTFLARREDNGLTLTCEAFSEAFTKETFKKSLILNVKYPAQKLWIEGPPEGQKLRAGTRVRLVCLAIGGNPEPSLMWYKDSRTVTESRLPQESRRVHLGSVEKSGSTFSRELVLVTGPSDNQAKFTCKAGQLSASTQLAVQFPPTNVTILANASALRPGDALNLTCVSVSSNPPVNLSWDKEGERLEGVAAPPRRAPFKGSAAARSVLLQVSSRDHGQRVTCRAHSAELRETVSSFYRLNVLYRPEFLGEQVLVVTAVEQGEALLPVSVSANPAPEAFNWTFRGYRLSPAGGPRHRILSSGALHLWNVTRADDGLYQLHCQNSEGTAEARLRLDVHYAPTIRALQDPTEVNVGGSVDIVCTVDANPILPGMFNWERLGEDEEDQSLDDMEKISRGPTGRLRIHHAKLAQAGAYQCIVDNGVAPPARRLLRLVVRFAPQVEHPTPLTKVAAAGDSTSSATLHCRARGVPNIVFTWTKNGVPLDLQDPRYTEHTYHQGGVHSSLLTIANVSAAQDYALFTCTATNALGSDQTNIQLVSISRPDPPSGLKVVSLTPHSVGLEWKPGFDGGLPQRFCIRYEALGTPGFHYVDVVPPQATTFTLTGLQPSTRYRVWLLASNALGDSGLADKGTQLPITTPGLHQPSGEPEDQLPTEPPSGPSGLPLLPVLFALGGLLLLSNASCVGGVLWQRRLRRLAEGISEKTEAGSEEDRVRNEYEESQWTGERDTQSSTVSTTEAEPYYRSLRDFSPQLPPTQEEVSYSRGFTGEDEDMAFPGHLYDEVERTYPPSGAWGPLYDEVQMGPWDLHWPEDTYQDPRGIYDQVAGDLDTLEPDSLPFELRGHLV
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
29PhosphorylationAQLAIPASVPRGFWA
HHHCCCCCCCCCEEC
27.5724719451
40N-linked_GlycosylationGFWALPENLTVVEGA
CEECCCCCEEEECCC
38.79UniProtKB CARBOHYD
291PhosphorylationPVSTAWGTEHTQAVA
CCCCCCCCHHHHHHH
17.5629978859
294PhosphorylationTAWGTEHTQAVARSV
CCCCCHHHHHHHEEE
16.4029978859
300PhosphorylationHTQAVARSVLVMTVR
HHHHHHEEEEEEEEC
15.2929978859
305PhosphorylationARSVLVMTVRPEDHG
HEEEEEEEECHHHCC
13.0929978859
356N-linked_GlycosylationASQTENKNVTLSCVS
CCCCCCCCEEEEEEC
43.52UniProtKB CARBOHYD
401N-linked_GlycosylationGGHISMSNLTFLARR
CCCEECCCEEEEEEE
34.16UniProtKB CARBOHYD
414PhosphorylationRREDNGLTLTCEAFS
EECCCCEEEEEHHHH
22.78-
416PhosphorylationEDNGLTLTCEAFSEA
CCCCEEEEEHHHHHH
11.76-
421PhosphorylationTLTCEAFSEAFTKET
EEEEHHHHHHHCHHH
34.75-
432PhosphorylationTKETFKKSLILNVKY
CHHHHHHHEEEEEEC
22.6422817900
439PhosphorylationSLILNVKYPAQKLWI
HEEEEEECCCCEEEE
10.26-
547N-linked_GlycosylationAVQFPPTNVTILANA
EECCCCCCEEEEECC
34.41UniProtKB CARBOHYD
553N-linked_GlycosylationTNVTILANASALRPG
CCEEEEECCCCCCCC
30.86UniProtKB CARBOHYD
564N-linked_GlycosylationLRPGDALNLTCVSVS
CCCCCCEEEEEEECC
34.72UniProtKB CARBOHYD
577N-linked_GlycosylationVSSNPPVNLSWDKEG
CCCCCCCCCCCCCCC
33.85UniProtKB CARBOHYD
633PhosphorylationHSAELRETVSSFYRL
ECHHHHHHHHHHHHC
21.1829083192
635PhosphorylationAELRETVSSFYRLNV
HHHHHHHHHHHHCCE
23.3429083192
636PhosphorylationELRETVSSFYRLNVL
HHHHHHHHHHHCCEE
23.2029083192
638PhosphorylationRETVSSFYRLNVLYR
HHHHHHHHHCCEEEC
19.0129083192
680N-linked_GlycosylationNPAPEAFNWTFRGYR
CCCCCCCCCEECEEC
43.88UniProtKB CARBOHYD
700PhosphorylationGPRHRILSSGALHLW
CCCEEEECCCCEEEE
25.10-
701PhosphorylationPRHRILSSGALHLWN
CCEEEECCCCEEEEE
25.33-
708N-linked_GlycosylationSGALHLWNVTRADDG
CCCEEEEEEEECCCC
31.48UniProtKB CARBOHYD
710PhosphorylationALHLWNVTRADDGLY
CEEEEEEEECCCCEE
19.54-
908N-linked_GlycosylationSSLLTIANVSAAQDY
HHHEEEECCCCCCCC
25.15UniProtKB CARBOHYD
939PhosphorylationNIQLVSISRPDPPSG
EEEEEEECCCCCCCC
30.1924719451
1029 (in isoform 2)Phosphorylation-32.4528634298
1034 (in isoform 2)Phosphorylation-25.6228634298
1035 (in isoform 2)Phosphorylation-18.9728634298
1042 (in isoform 2)Phosphorylation-49.5828634298
1051 (in isoform 2)Phosphorylation-70.4928634298
1055 (in isoform 2)Phosphorylation-74.2328634298
1058 (in isoform 2)Phosphorylation-57.3928634298
1098PhosphorylationRRLAEGISEKTEAGS
HHHHHHHHHHCCCCC
43.85-
1101PhosphorylationAEGISEKTEAGSEED
HHHHHHHCCCCCHHH
27.3228857561
1105PhosphorylationSEKTEAGSEEDRVRN
HHHCCCCCHHHHHHH
44.8828857561
1120PhosphorylationEYEESQWTGERDTQS
HHHHHHCCCCCCCCC
22.8721321125
1125PhosphorylationQWTGERDTQSSTVST
HCCCCCCCCCCEEEC
36.2521321125
1176PhosphorylationMAFPGHLYDEVERTY
CCCCCCHHHHHHHHC
12.3722718751
1193PhosphorylationSGAWGPLYDEVQMGP
CCCCCCCCCCCCCCC
17.1219882202
1217PhosphorylationYQDPRGIYDQVAGDL
CCCCCCHHHHHCCCC
11.8019882202

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
1120TPhosphorylationKinasePRKCAP17252
GPS
1125TPhosphorylationKinasePRKCAP17252
GPS
1193YPhosphorylationKinaseFYNP06241
Uniprot
1193YPhosphorylationKinaseYESP07947
PSP

Functions of PTM Sites
Modified Location Modified Residue Modification Function Reference

Oops, there are no descriptions of PTM sites of NPHN_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 NPHN_HUMAN !!

Protein-Protein Interaction
Interacting Protein Gene Name Interaction Type PPI Reference Domain-Domain Interactions
FYN_HUMANFYNphysical
12846735
YES_HUMANYES1physical
12668668
FYN_HUMANFYNphysical
12668668
NPHN_HUMANNPHS1physical
12660326
PODO_MOUSENphs2physical
11562357
CDC42_MOUSECdc42genetic
11562357
RAC1_MOUSERac1genetic
11562357
RHOA_MOUSERhoagenetic
11562357
MP2K4_HUMANMAP2K4genetic
11562357
MP2K3_HUMANMAP2K3genetic
11562357
MP2K6_HUMANMAP2K6genetic
11562357
SH3K1_HUMANSH3KBP1physical
20457601
CD2AP_HUMANCD2APphysical
20457601
CALX_HUMANCANXphysical
24303155
IQGA1_HUMANIQGAP1physical
25652011

Drug and Disease Associations
Kegg Disease
H00626 Nephrotic syndrome and focal segmental glomerulosclerosis
OMIM Disease
256300Nephrotic syndrome 1 (NPHS1)
Kegg Drug
There are no disease associations of PTM sites.
DrugBank
There are no disease associations of PTM sites.
Regulatory Network of NPHN_HUMAN

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Related Literatures of Post-Translational Modification
Phosphorylation
ReferencePubMed
"Phosphoproteome of resting human platelets.";
Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J.,Schuetz C., Walter U., Gambaryan S., Sickmann A.;
J. Proteome Res. 7:526-534(2008).
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-432, AND MASSSPECTROMETRY.

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