| 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 | ||
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* ASA = Accessible Surface Area
| Locations | Modification | Substrate Peptides & Secondary Structure |
ASA (%) | Reference | Orthologous Protein Cluster |
|---|---|---|---|---|---|
| 29 | Phosphorylation | AQLAIPASVPRGFWA HHHCCCCCCCCCEEC | 27.57 | 24719451 | |
| 40 | N-linked_Glycosylation | GFWALPENLTVVEGA CEECCCCCEEEECCC | 38.79 | UniProtKB CARBOHYD | |
| 291 | Phosphorylation | PVSTAWGTEHTQAVA CCCCCCCCHHHHHHH | 17.56 | 29978859 | |
| 294 | Phosphorylation | TAWGTEHTQAVARSV CCCCCHHHHHHHEEE | 16.40 | 29978859 | |
| 300 | Phosphorylation | HTQAVARSVLVMTVR HHHHHHEEEEEEEEC | 15.29 | 29978859 | |
| 305 | Phosphorylation | ARSVLVMTVRPEDHG HEEEEEEEECHHHCC | 13.09 | 29978859 | |
| 356 | N-linked_Glycosylation | ASQTENKNVTLSCVS CCCCCCCCEEEEEEC | 43.52 | UniProtKB CARBOHYD | |
| 401 | N-linked_Glycosylation | GGHISMSNLTFLARR CCCEECCCEEEEEEE | 34.16 | UniProtKB CARBOHYD | |
| 414 | Phosphorylation | RREDNGLTLTCEAFS EECCCCEEEEEHHHH | 22.78 | - | |
| 416 | Phosphorylation | EDNGLTLTCEAFSEA CCCCEEEEEHHHHHH | 11.76 | - | |
| 421 | Phosphorylation | TLTCEAFSEAFTKET EEEEHHHHHHHCHHH | 34.75 | - | |
| 432 | Phosphorylation | TKETFKKSLILNVKY CHHHHHHHEEEEEEC | 22.64 | 22817900 | |
| 439 | Phosphorylation | SLILNVKYPAQKLWI HEEEEEECCCCEEEE | 10.26 | - | |
| 547 | N-linked_Glycosylation | AVQFPPTNVTILANA EECCCCCCEEEEECC | 34.41 | UniProtKB CARBOHYD | |
| 553 | N-linked_Glycosylation | TNVTILANASALRPG CCEEEEECCCCCCCC | 30.86 | UniProtKB CARBOHYD | |
| 564 | N-linked_Glycosylation | LRPGDALNLTCVSVS CCCCCCEEEEEEECC | 34.72 | UniProtKB CARBOHYD | |
| 577 | N-linked_Glycosylation | VSSNPPVNLSWDKEG CCCCCCCCCCCCCCC | 33.85 | UniProtKB CARBOHYD | |
| 633 | Phosphorylation | HSAELRETVSSFYRL ECHHHHHHHHHHHHC | 21.18 | 29083192 | |
| 635 | Phosphorylation | AELRETVSSFYRLNV HHHHHHHHHHHHCCE | 23.34 | 29083192 | |
| 636 | Phosphorylation | ELRETVSSFYRLNVL HHHHHHHHHHHCCEE | 23.20 | 29083192 | |
| 638 | Phosphorylation | RETVSSFYRLNVLYR HHHHHHHHHCCEEEC | 19.01 | 29083192 | |
| 680 | N-linked_Glycosylation | NPAPEAFNWTFRGYR CCCCCCCCCEECEEC | 43.88 | UniProtKB CARBOHYD | |
| 700 | Phosphorylation | GPRHRILSSGALHLW CCCEEEECCCCEEEE | 25.10 | - | |
| 701 | Phosphorylation | PRHRILSSGALHLWN CCEEEECCCCEEEEE | 25.33 | - | |
| 708 | N-linked_Glycosylation | SGALHLWNVTRADDG CCCEEEEEEEECCCC | 31.48 | UniProtKB CARBOHYD | |
| 710 | Phosphorylation | ALHLWNVTRADDGLY CEEEEEEEECCCCEE | 19.54 | - | |
| 908 | N-linked_Glycosylation | SSLLTIANVSAAQDY HHHEEEECCCCCCCC | 25.15 | UniProtKB CARBOHYD | |
| 939 | Phosphorylation | NIQLVSISRPDPPSG EEEEEEECCCCCCCC | 30.19 | 24719451 | |
| 1029 (in isoform 2) | Phosphorylation | - | 32.45 | 28634298 | |
| 1034 (in isoform 2) | Phosphorylation | - | 25.62 | 28634298 | |
| 1035 (in isoform 2) | Phosphorylation | - | 18.97 | 28634298 | |
| 1042 (in isoform 2) | Phosphorylation | - | 49.58 | 28634298 | |
| 1051 (in isoform 2) | Phosphorylation | - | 70.49 | 28634298 | |
| 1055 (in isoform 2) | Phosphorylation | - | 74.23 | 28634298 | |
| 1058 (in isoform 2) | Phosphorylation | - | 57.39 | 28634298 | |
| 1098 | Phosphorylation | RRLAEGISEKTEAGS HHHHHHHHHHCCCCC | 43.85 | - | |
| 1101 | Phosphorylation | AEGISEKTEAGSEED HHHHHHHCCCCCHHH | 27.32 | 28857561 | |
| 1105 | Phosphorylation | SEKTEAGSEEDRVRN HHHCCCCCHHHHHHH | 44.88 | 28857561 | |
| 1120 | Phosphorylation | EYEESQWTGERDTQS HHHHHHCCCCCCCCC | 22.87 | 21321125 | |
| 1125 | Phosphorylation | QWTGERDTQSSTVST HCCCCCCCCCCEEEC | 36.25 | 21321125 | |
| 1176 | Phosphorylation | MAFPGHLYDEVERTY CCCCCCHHHHHHHHC | 12.37 | 22718751 | |
| 1193 | Phosphorylation | SGAWGPLYDEVQMGP CCCCCCCCCCCCCCC | 17.12 | 19882202 | |
| 1217 | Phosphorylation | YQDPRGIYDQVAGDL CCCCCCHHHHHCCCC | 11.80 | 19882202 |
| Modified Location | Modified Residue | Modification | Type of Upstream Proteins | Gene Name of Upstream Proteins | UniProt AC of Upstream Proteins | Sources |
|---|---|---|---|---|---|---|
| 1120 | T | Phosphorylation | Kinase | PRKCA | P17252 | GPS |
| 1125 | T | Phosphorylation | Kinase | PRKCA | P17252 | GPS |
| 1193 | Y | Phosphorylation | Kinase | FYN | P06241 | Uniprot |
| 1193 | Y | Phosphorylation | Kinase | YES | P07947 | PSP |
| Modified Location | Modified Residue | Modification | Function | Reference | ||
|---|---|---|---|---|---|---|
Oops, there are no descriptions of PTM sites of NPHN_HUMAN !! | ||||||
* 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 !! | ||||||
| Interacting Protein | Gene Name | Interaction Type | PPI Reference | Domain-Domain Interactions |
|---|---|---|---|---|
| FYN_HUMAN | FYN | physical | 12846735 | |
| YES_HUMAN | YES1 | physical | 12668668 | |
| FYN_HUMAN | FYN | physical | 12668668 | |
| NPHN_HUMAN | NPHS1 | physical | 12660326 | |
| PODO_MOUSE | Nphs2 | physical | 11562357 | |
| CDC42_MOUSE | Cdc42 | genetic | 11562357 | |
| RAC1_MOUSE | Rac1 | genetic | 11562357 | |
| RHOA_MOUSE | Rhoa | genetic | 11562357 | |
| MP2K4_HUMAN | MAP2K4 | genetic | 11562357 | |
| MP2K3_HUMAN | MAP2K3 | genetic | 11562357 | |
| MP2K6_HUMAN | MAP2K6 | genetic | 11562357 | |
| SH3K1_HUMAN | SH3KBP1 | physical | 20457601 | |
| CD2AP_HUMAN | CD2AP | physical | 20457601 | |
| CALX_HUMAN | CANX | physical | 24303155 | |
| IQGA1_HUMAN | IQGAP1 | physical | 25652011 |
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| Phosphorylation | |
| Reference | PubMed |
| "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. | |