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Entry version 175 (08 May 2019)
Sequence version 1 (01 Aug 1998)
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Protein

Nephrin

Gene

NPHS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • myosin binding Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein
Biological processCell adhesion, Myogenesis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-373753 Nephrin family interactions

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
O60500

SIGNOR Signaling Network Open Resource

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SIGNORi
O60500

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Nephrin
Alternative name(s):
Renal glomerulus-specific cell adhesion receptor
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NPHS1
Synonyms:NPHN
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:7908 NPHS1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
602716 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_O60500

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini23 – 1055ExtracellularSequence analysisAdd BLAST1033
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei1056 – 1076HelicalSequence analysisAdd BLAST21
Topological domaini1077 – 1241CytoplasmicSequence analysisAdd BLAST165

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Nephrotic syndrome 1 (NPHS1)15 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure.
See also OMIM:256300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01302964W → S in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833897EnsemblClinVar.1
Natural variantiVAR_06419496L → V in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833929EnsemblClinVar.1
Natural variantiVAR_079794107A → E in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833934EnsemblClinVar.1
Natural variantiVAR_064195107A → T in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833933EnsemblClinVar.1
Natural variantiVAR_064196107A → V in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833934EnsemblClinVar.1
Natural variantiVAR_064197167P → L in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833945EnsemblClinVar.1
Natural variantiVAR_013031171I → N in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833946EnsemblClinVar.1
Natural variantiVAR_013032172Missing in NPHS1. 5 Publications1
Natural variantiVAR_013033173I → N in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833949EnsemblClinVar.1
Natural variantiVAR_072375188N → I in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs145125791EnsemblClinVar.1
Natural variantiVAR_072376189E → K in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs139598219Ensembl.1
Natural variantiVAR_013034205 – 207TPR → I in NPHS1. 3 Publications3
Natural variantiVAR_072161237L → P in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs373835033Ensembl.1
Natural variantiVAR_064198256R → W in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs386833960EnsemblClinVar.1
Natural variantiVAR_064199264P → R in NPHS1; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs34982899EnsemblClinVar.1
Natural variantiVAR_064200265C → R in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs267606917EnsemblClinVar.1
Natural variantiVAR_013035270G → C in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833961EnsemblClinVar.1
Natural variantiVAR_072377294T → I in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs113825926EnsemblClinVar.1
Natural variantiVAR_064201299R → C in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs753476209EnsemblClinVar.1
Natural variantiVAR_064202340P → H in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833861EnsemblClinVar.1
Natural variantiVAR_064203347G → E in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833862EnsemblClinVar.1
Natural variantiVAR_013036350S → P in NPHS1; lack of protein expression on the cell surface. 4 PublicationsCorresponds to variant dbSNP:rs386833863EnsemblClinVar.1
Natural variantiVAR_013037366S → R in NPHS1; lack of protein expression on the cell surface; the mutant protein is retained in the endoplasmic reticulum. 4 PublicationsCorresponds to variant dbSNP:rs386833864EnsemblClinVar.1
Natural variantiVAR_013038367R → C in NPHS1; lack of protein expression on the cell surface. 5 PublicationsCorresponds to variant dbSNP:rs386833865EnsemblClinVar.1
Natural variantiVAR_064204368P → L in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs386833867EnsemblClinVar.1
Natural variantiVAR_013039368P → S in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833866EnsemblClinVar.1
Natural variantiVAR_013040376L → V in NPHS1; does not affect protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833868EnsemblClinVar.1
Natural variantiVAR_064205379R → W in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833871EnsemblClinVar.1
Natural variantiVAR_064206407R → W in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833874EnsemblClinVar.1
Natural variantiVAR_064207412G → C in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs142008044EnsemblClinVar.1
Natural variantiVAR_064208417C → F in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833875EnsemblClinVar.1
Natural variantiVAR_075252446I → N in NPHS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs386833879EnsemblClinVar.1
Natural variantiVAR_064209460R → Q in NPHS1. 3 PublicationsCorresponds to variant dbSNP:rs386833880EnsemblClinVar.1
Natural variantiVAR_013043465C → Y in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833881EnsemblClinVar.1
Natural variantiVAR_064210519P → S in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833884EnsemblClinVar.1
Natural variantiVAR_013044528C → F in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833885EnsemblClinVar.1
Natural variantiVAR_064211558R → C in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs386833886EnsemblClinVar.1
Natural variantiVAR_079795567C → S in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs1468337078Ensembl.1
Natural variantiVAR_064212569S → R in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833888EnsemblClinVar.1
Natural variantiVAR_064213572S → N in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833889EnsemblClinVar.1
Natural variantiVAR_064214575P → Q in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833890EnsemblClinVar.1
Natural variantiVAR_064215586R → G in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs730880174EnsemblClinVar.1
Natural variantiVAR_064216587L → R in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833892EnsemblClinVar.1
Natural variantiVAR_072378608V → I in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs367976914EnsemblClinVar.1
Natural variantiVAR_013045610L → Q in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833894EnsemblClinVar.1
Natural variantiVAR_013046623C → F in NPHS1; lack of protein expression on the cell surface. 5 PublicationsCorresponds to variant dbSNP:rs386833895EnsemblClinVar.1
Natural variantiVAR_064218673N → K in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs191807913EnsemblClinVar.1
Natural variantiVAR_064219681W → C in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833900EnsemblClinVar.1
Natural variantiVAR_064220709V → G in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833902EnsemblClinVar.1
Natural variantiVAR_075253711R → H in NPHS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs926025297Ensembl.1
Natural variantiVAR_013047724S → C in NPHS1; does not affect protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833905EnsemblClinVar.1
Natural variantiVAR_075254736V → M in NPHS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1131692245EnsemblClinVar.1
Natural variantiVAR_064222739A → V in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833907EnsemblClinVar.1
Natural variantiVAR_067252742I → T in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833908EnsemblClinVar.1
Natural variantiVAR_013048743R → C in NPHS1; does not affect protein expression on the cell surface. 4 PublicationsCorresponds to variant dbSNP:rs386833909EnsemblClinVar.1
Natural variantiVAR_013050802R → P in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs114203578EnsemblClinVar.1
Natural variantiVAR_013049802R → W in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833911EnsemblClinVar.1
Natural variantiVAR_013051806A → D in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833912EnsemblClinVar.1
Natural variantiVAR_013052819D → V in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs387906357EnsemblClinVar.1
Natural variantiVAR_064223822V → M in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs267606918EnsemblClinVar.1
Natural variantiVAR_013053831R → C in NPHS1; lack of protein expression on the cell surface. 2 PublicationsCorresponds to variant dbSNP:rs386833915EnsemblClinVar.1
Natural variantiVAR_064224832L → P in NPHS1; the mutant protein is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs386833916EnsemblClinVar.1
Natural variantiVAR_064225834V → F in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833917EnsemblClinVar.1
Natural variantiVAR_064226851A → V in NPHS1; unknown pathological significance. 2 Publications1
Natural variantiVAR_064227910S → P in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs143649022Ensembl.1
Natural variantiVAR_072162912A → T in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs763162233Ensembl.1
Natural variantiVAR_064228976R → S in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs138656762EnsemblClinVar.1
Natural variantiVAR_0723791016S → N in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs367986918Ensembl.1
Natural variantiVAR_0721631020G → V in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs749003854Ensembl.1
Natural variantiVAR_0797961096G → C in NPHS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0130551140R → C in NPHS1; does not affect protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs143092783EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
4868

MalaCards human disease database

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MalaCardsi
NPHS1
MIMi256300 phenotype

Open Targets

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OpenTargetsi
ENSG00000161270

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
839 Congenital nephrotic syndrome, Finnish type
93214 Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
93217 Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
93216 Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA31709

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NPHS1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 22Sequence analysisAdd BLAST22
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001505223 – 1241NephrinAdd BLAST1219

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi40N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi53 ↔ 111PROSITE-ProRule annotation
Disulfide bondi160 ↔ 217PROSITE-ProRule annotation
Disulfide bondi265 ↔ 317PROSITE-ProRule annotation
Glycosylationi356N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi361 ↔ 417PROSITE-ProRule annotation
Glycosylationi401N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei432PhosphoserineCombined sources1
Disulfide bondi465 ↔ 528PROSITE-ProRule annotation
Glycosylationi547N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi553N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi564N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi567 ↔ 623PROSITE-ProRule annotation
Glycosylationi577N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi680N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi708N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi761 ↔ 816PROSITE-ProRule annotation
Disulfide bondi863 ↔ 920PROSITE-ProRule annotation
Glycosylationi908N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei1098PhosphoserineBy similarity1
Modified residuei1101PhosphothreonineBy similarity1
Modified residuei1105PhosphoserineBy similarity1
Modified residuei1193Phosphotyrosine; by FYNBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated at Tyr-1193 by FYN, leading to the recruitment and activation of phospholipase C-gamma-1/PLCG1.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O60500

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O60500

PeptideAtlas

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PeptideAtlasi
O60500

PRoteomics IDEntifications database

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PRIDEi
O60500

ProteomicsDB human proteome resource

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ProteomicsDBi
49436
49437 [O60500-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O60500

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O60500

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Specifically expressed in podocytes of kidney glomeruli.

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

In 23-week-old embryo found in epithelial podocytes of the periphery of mature and developing glomeruli.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000161270 Expressed in 57 organ(s), highest expression level in metanephric glomerulus

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O60500 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB035555

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with CD2AP (via C-terminal domain). Interacts with MAGI1 (via PDZ 2 and 3 domains) forming a tripartite complex with IGSF5/JAM4. Interacts with DDN; the interaction is direct. Self-associates (via the Ig-like domains). Also interacts (via the Ig-like domains) with KIRREL1/NEPH1 and KIRREL2; the interaction with KIRREL1 is dependent on KIRREL1 glycosylation. Interacts with KIRREL3. Forms a complex with ACTN4, CASK, IQGAP1, MAGI2, SPTAN1 and SPTBN1 (By similarity). Interacts with NPHS2 (PubMed:11562357).By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
110928, 17 interactors

Database of interacting proteins

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DIPi
DIP-36424N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
O60500

Protein interaction database and analysis system

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IntActi
O60500, 9 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000368190

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4ZRTX-ray1.74B1188-1198[»]

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O60500

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini27 – 130Ig-like C2-type 1Add BLAST104
Domaini143 – 234Ig-like C2-type 2Add BLAST92
Domaini242 – 333Ig-like C2-type 3Add BLAST92
Domaini340 – 434Ig-like C2-type 4Add BLAST95
Domaini440 – 540Ig-like C2-type 5Add BLAST101
Domaini544 – 635Ig-like C2-type 6Add BLAST92
Domaini740 – 832Ig-like C2-type 7Add BLAST93
Domaini838 – 939Ig-like C2-type 8Add BLAST102
Domaini943 – 1038Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST96

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1160 – 1241Binds to NPHS2Add BLAST82

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the immunoglobulin superfamily.Curated

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3515 Eukaryota
ENOG410XRJN LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159510

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000113844

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O60500

Identification of Orthologs from Complete Genome Data

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OMAi
GMFNWER

Database of Orthologous Groups

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OrthoDBi
269917at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O60500

TreeFam database of animal gene trees

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TreeFami
TF327139

Family and domain databases

Conserved Domains Database

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CDDi
cd00063 FN3, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.10, 10 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR013162 CD80_C2-set
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003599 Ig_sub
IPR003598 Ig_sub2
IPR013106 Ig_V-set

Pfam protein domain database

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Pfami
View protein in Pfam
PF08205 C2-set_2, 5 hits
PF00041 fn3, 1 hit
PF07686 V-set, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00060 FN3, 1 hit
SM00409 IG, 8 hits
SM00408 IGc2, 7 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48726 SSF48726, 9 hits
SSF49265 SSF49265, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50853 FN3, 1 hit
PS50835 IG_LIKE, 7 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: O60500-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MALGTTLRAS LLLLGLLTEG LAQLAIPASV PRGFWALPEN LTVVEGASVE
60 70 80 90 100
LRCGVSTPGS AVQWAKDGLL LGPDPRIPGF PRYRLEGDPA RGEFHLHIEA
110 120 130 140 150
CDLSDDAEYE CQVGRSEMGP ELVSPRVILS ILVPPKLLLL TPEAGTMVTW
160 170 180 190 200
VAGQEYVVNC VSGDAKPAPD ITILLSGQTI SDISANVNEG SQQKLFTVEA
210 220 230 240 250
TARVTPRSSD NRQLLVCEAS SPALEAPIKA SFTVNVLFPP GPPVIEWPGL
260 270 280 290 300
DEGHVRAGQS LELPCVARGG NPLATLQWLK NGQPVSTAWG TEHTQAVARS
310 320 330 340 350
VLVMTVRPED HGAQLSCEAH NSVSAGTQEH GITLQVTFPP SAIIILGSAS
360 370 380 390 400
QTENKNVTLS CVSKSSRPRV LLRWWLGWRQ LLPMEETVMD GLHGGHISMS
410 420 430 440 450
NLTFLARRED NGLTLTCEAF SEAFTKETFK KSLILNVKYP AQKLWIEGPP
460 470 480 490 500
EGQKLRAGTR VRLVCLAIGG NPEPSLMWYK DSRTVTESRL PQESRRVHLG
510 520 530 540 550
SVEKSGSTFS RELVLVTGPS DNQAKFTCKA GQLSASTQLA VQFPPTNVTI
560 570 580 590 600
LANASALRPG DALNLTCVSV SSNPPVNLSW DKEGERLEGV AAPPRRAPFK
610 620 630 640 650
GSAAARSVLL QVSSRDHGQR VTCRAHSAEL RETVSSFYRL NVLYRPEFLG
660 670 680 690 700
EQVLVVTAVE QGEALLPVSV SANPAPEAFN WTFRGYRLSP AGGPRHRILS
710 720 730 740 750
SGALHLWNVT RADDGLYQLH CQNSEGTAEA RLRLDVHYAP TIRALQDPTE
760 770 780 790 800
VNVGGSVDIV CTVDANPILP GMFNWERLGE DEEDQSLDDM EKISRGPTGR
810 820 830 840 850
LRIHHAKLAQ AGAYQCIVDN GVAPPARRLL RLVVRFAPQV EHPTPLTKVA
860 870 880 890 900
AAGDSTSSAT LHCRARGVPN IVFTWTKNGV PLDLQDPRYT EHTYHQGGVH
910 920 930 940 950
SSLLTIANVS AAQDYALFTC TATNALGSDQ TNIQLVSISR PDPPSGLKVV
960 970 980 990 1000
SLTPHSVGLE WKPGFDGGLP QRFCIRYEAL GTPGFHYVDV VPPQATTFTL
1010 1020 1030 1040 1050
TGLQPSTRYR VWLLASNALG DSGLADKGTQ LPITTPGLHQ PSGEPEDQLP
1060 1070 1080 1090 1100
TEPPSGPSGL PLLPVLFALG GLLLLSNASC VGGVLWQRRL RRLAEGISEK
1110 1120 1130 1140 1150
TEAGSEEDRV RNEYEESQWT GERDTQSSTV STTEAEPYYR SLRDFSPQLP
1160 1170 1180 1190 1200
PTQEEVSYSR GFTGEDEDMA FPGHLYDEVE RTYPPSGAWG PLYDEVQMGP
1210 1220 1230 1240
WDLHWPEDTY QDPRGIYDQV AGDLDTLEPD SLPFELRGHL V
Length:1,241
Mass (Da):134,742
Last modified:August 1, 1998 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7F5AFAF078BCF532
GO
Isoform 2 (identifier: O60500-2) [UniParc]FASTAAdd to basket
Also known as: Alpha

The sequence of this isoform differs from the canonical sequence as follows:
     1056-1095: Missing.

Show »
Length:1,201
Mass (Da):130,546
Checksum:i189283B140D831DF
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01302964W → S in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833897EnsemblClinVar.1
Natural variantiVAR_06419496L → V in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833929EnsemblClinVar.1
Natural variantiVAR_079794107A → E in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833934EnsemblClinVar.1
Natural variantiVAR_064195107A → T in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833933EnsemblClinVar.1
Natural variantiVAR_064196107A → V in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833934EnsemblClinVar.1
Natural variantiVAR_013030117E → K4 PublicationsCorresponds to variant dbSNP:rs3814995EnsemblClinVar.1
Natural variantiVAR_064197167P → L in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833945EnsemblClinVar.1
Natural variantiVAR_013031171I → N in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833946EnsemblClinVar.1
Natural variantiVAR_013032172Missing in NPHS1. 5 Publications1
Natural variantiVAR_013033173I → N in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833949EnsemblClinVar.1
Natural variantiVAR_072375188N → I in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs145125791EnsemblClinVar.1
Natural variantiVAR_072376189E → K in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs139598219Ensembl.1
Natural variantiVAR_013034205 – 207TPR → I in NPHS1. 3 Publications3
Natural variantiVAR_049970233T → A. Corresponds to variant dbSNP:rs35238405EnsemblClinVar.1
Natural variantiVAR_072161237L → P in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs373835033Ensembl.1
Natural variantiVAR_064198256R → W in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs386833960EnsemblClinVar.1
Natural variantiVAR_064199264P → R in NPHS1; unknown pathological significance. 4 PublicationsCorresponds to variant dbSNP:rs34982899EnsemblClinVar.1
Natural variantiVAR_064200265C → R in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs267606917EnsemblClinVar.1
Natural variantiVAR_013035270G → C in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833961EnsemblClinVar.1
Natural variantiVAR_072377294T → I in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs113825926EnsemblClinVar.1
Natural variantiVAR_064201299R → C in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs753476209EnsemblClinVar.1
Natural variantiVAR_064202340P → H in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833861EnsemblClinVar.1
Natural variantiVAR_064203347G → E in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833862EnsemblClinVar.1
Natural variantiVAR_013036350S → P in NPHS1; lack of protein expression on the cell surface. 4 PublicationsCorresponds to variant dbSNP:rs386833863EnsemblClinVar.1
Natural variantiVAR_013037366S → R in NPHS1; lack of protein expression on the cell surface; the mutant protein is retained in the endoplasmic reticulum. 4 PublicationsCorresponds to variant dbSNP:rs386833864EnsemblClinVar.1
Natural variantiVAR_013038367R → C in NPHS1; lack of protein expression on the cell surface. 5 PublicationsCorresponds to variant dbSNP:rs386833865EnsemblClinVar.1
Natural variantiVAR_064204368P → L in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs386833867EnsemblClinVar.1
Natural variantiVAR_013039368P → S in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833866EnsemblClinVar.1
Natural variantiVAR_013040376L → V in NPHS1; does not affect protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833868EnsemblClinVar.1
Natural variantiVAR_064205379R → W in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833871EnsemblClinVar.1
Natural variantiVAR_049971392L → P. Corresponds to variant dbSNP:rs34320609EnsemblClinVar.1
Natural variantiVAR_064206407R → W in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833874EnsemblClinVar.1
Natural variantiVAR_013041408R → Q Polymorphism; does not affect protein expression on the cell surface. 5 PublicationsCorresponds to variant dbSNP:rs33950747EnsemblClinVar.1
Natural variantiVAR_064207412G → C in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs142008044EnsemblClinVar.1
Natural variantiVAR_064208417C → F in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833875EnsemblClinVar.1
Natural variantiVAR_075252446I → N in NPHS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs386833879EnsemblClinVar.1
Natural variantiVAR_013042447E → K2 PublicationsCorresponds to variant dbSNP:rs28939695EnsemblClinVar.1
Natural variantiVAR_064209460R → Q in NPHS1. 3 PublicationsCorresponds to variant dbSNP:rs386833880EnsemblClinVar.1
Natural variantiVAR_013043465C → Y in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833881EnsemblClinVar.1
Natural variantiVAR_064210519P → S in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833884EnsemblClinVar.1
Natural variantiVAR_013044528C → F in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833885EnsemblClinVar.1
Natural variantiVAR_064211558R → C in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs386833886EnsemblClinVar.1
Natural variantiVAR_079795567C → S in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs1468337078Ensembl.1
Natural variantiVAR_064212569S → R in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833888EnsemblClinVar.1
Natural variantiVAR_064213572S → N in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833889EnsemblClinVar.1
Natural variantiVAR_064214575P → Q in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833890EnsemblClinVar.1
Natural variantiVAR_064215586R → G in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs730880174EnsemblClinVar.1
Natural variantiVAR_064216587L → R in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833892EnsemblClinVar.1
Natural variantiVAR_072378608V → I in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs367976914EnsemblClinVar.1
Natural variantiVAR_013045610L → Q in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833894EnsemblClinVar.1
Natural variantiVAR_064217617H → R Found in patients with nephrotic syndrome; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs764058957Ensembl.1
Natural variantiVAR_013046623C → F in NPHS1; lack of protein expression on the cell surface. 5 PublicationsCorresponds to variant dbSNP:rs386833895EnsemblClinVar.1
Natural variantiVAR_064218673N → K in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs191807913EnsemblClinVar.1
Natural variantiVAR_064219681W → C in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833900EnsemblClinVar.1
Natural variantiVAR_064220709V → G in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833902EnsemblClinVar.1
Natural variantiVAR_075253711R → H in NPHS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs926025297Ensembl.1
Natural variantiVAR_013047724S → C in NPHS1; does not affect protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833905EnsemblClinVar.1
Natural variantiVAR_064221725E → D Found in patients with nephrotic syndrome; unknown pathological significance. 1 Publication1
Natural variantiVAR_075254736V → M in NPHS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1131692245EnsemblClinVar.1
Natural variantiVAR_064222739A → V in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833907EnsemblClinVar.1
Natural variantiVAR_067252742I → T in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833908EnsemblClinVar.1
Natural variantiVAR_013048743R → C in NPHS1; does not affect protein expression on the cell surface. 4 PublicationsCorresponds to variant dbSNP:rs386833909EnsemblClinVar.1
Natural variantiVAR_013050802R → P in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs114203578EnsemblClinVar.1
Natural variantiVAR_013049802R → W in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833911EnsemblClinVar.1
Natural variantiVAR_013051806A → D in NPHS1; lack of protein expression on the cell surface. 3 PublicationsCorresponds to variant dbSNP:rs386833912EnsemblClinVar.1
Natural variantiVAR_013052819D → V in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs387906357EnsemblClinVar.1
Natural variantiVAR_064223822V → M in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs267606918EnsemblClinVar.1
Natural variantiVAR_013053831R → C in NPHS1; lack of protein expression on the cell surface. 2 PublicationsCorresponds to variant dbSNP:rs386833915EnsemblClinVar.1
Natural variantiVAR_064224832L → P in NPHS1; the mutant protein is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs386833916EnsemblClinVar.1
Natural variantiVAR_064225834V → F in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs386833917EnsemblClinVar.1
Natural variantiVAR_064226851A → V in NPHS1; unknown pathological significance. 2 Publications1
Natural variantiVAR_064227910S → P in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs143649022Ensembl.1
Natural variantiVAR_072162912A → T in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs763162233Ensembl.1
Natural variantiVAR_064228976R → S in NPHS1. 2 PublicationsCorresponds to variant dbSNP:rs138656762EnsemblClinVar.1
Natural variantiVAR_049972991V → L. Corresponds to variant dbSNP:rs34736717EnsemblClinVar.1
Natural variantiVAR_0723791016S → N in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs367986918Ensembl.1
Natural variantiVAR_0721631020G → V in NPHS1. 1 PublicationCorresponds to variant dbSNP:rs749003854Ensembl.1
Natural variantiVAR_0130541077N → S3 Publications