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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NPHS1 Gene

protein-coding GIFtS: 63
GCID: GC19M036316

nephrosis 1, congenital, Finnish type (nephrin)

Explore 38 diseases affiliated with
NPHS1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Nephrosis 1, Congenital, Finnish Type (Nephrin)¹ ²
NPHN¹ ² ³ ⁵
CNF¹ ²
Renal Glomerulus-Specific Cell Adhesion Receptor² ³
Nephrin¹

External Ids:	HGNC: 7908¹	Entrez Gene: 4868²	Ensembl: ENSG00000161270⁷	OMIM: 602716⁵	UniProtKB: O60500³

Export aliases for NPHS1 gene to outside databases

Previous GC identifers: GC19M036956 GC19M036740 GC19M040968 GC19M041008 GC19M040983 GC19M040984 GC19M036290 GC19M032820

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NPHS1:

This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular

filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1

transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function

as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene

result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and

foot processes.(provided by RefSeq, Oct 2009)

UniProtKB/Swiss-Prot: NPHN_HUMAN, O60500

Function: 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)

Gene Wiki entry for NPHS1 (Nephrin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011109.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NPHS1 gene promoter:
E2F-4 E2F-1 E2F p53 NRSF form 1 E2F-2 NRSF form 2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NPHS1 promoter sequence

Search SABiosciences Chromatin IP Primers for NPHS1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NPHS1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.1 Ensembl cytogenetic band: 19q13.12 HGNC cytogenetic band: 19q12-q13.1

NPHS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NPHS1 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M036316: view genomic region (about GC identifiers)

Start:	36,316,274 bp from pter	End:	36,342,895 bp from pter
Size:	26,622 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NPHN_HUMAN, O60500 (See protein sequence)

Recommended Name: Nephrin precursor

Size: 1241 amino acids; 134742 Da

Subunit: 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 KIRREL/NEPH1 and KIRREL2; the interaction with KIRREL is

dependent on KIRREL glycosylation. Forms a complex with ACTN4, CASK, IQGAP1, MAGI2, SPTAN1 and SPTBN1 (By similarity).

Interacts with NPHS2

Subcellular location: Cell membrane; Single-pass type I membrane protein (Potential). Note=Predominantly located at

podocyte slit diaphragm between podocyte foot processes. Also associated with podocyte apical plasma membrane

Developmental stage: In 23-week-old embryo found in epithelial podocytes of the periphery of mature and developing

glomeruli

Secondary accessions: A6NDH2 C3RX61

Alternative splicing: 2 isoforms: O60500-1 O60500-2

Explore the universe of human proteins at neXtProt for NPHS1: NX_O60500

Post-translational modifications:

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

similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O60500

NPHS1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004637.1

ENSEMBL proteins:

ENSP00000368190 ENSP00000343634

Reactome Protein details: O60500
Human Recombinant Protein Products for NPHS1:

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	Uscn Proteins for NPHS1

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	9660941
GO:0016020	membrane	--	--
GO:0036057	slit diaphragm	ISS	--

NPHS1 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NPHS1 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR003598 Ig_sub2

IPR007110 Ig-like_dom

IPR013162 CD80_C2-set

IPR003599 Ig_sub

IPR003961 Fibronectin_type3

Graphical View of Domain Structure for InterPro Entry O60500

ProtoNet protein and cluster: O60500

3 Blocks protein families:

IPB003598 Immunoglobulin C-2 type

IPB013098 Immunoglobulin I-set

IPB013162 CD80-like C2-set immunoglobulin

UniProtKB/Swiss-Prot: NPHN_HUMAN, O60500

Similarity: Belongs to the immunoglobulin superfamily

Similarity: Contains 1 fibronectin type-III domain

Similarity: Contains 8 Ig-like C2-type (immunoglobulin-like) domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: NPHN_HUMAN, O60500

Function: 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)

Genatlas biochemistry entry for NPHS1:

nephrin,transmembrane protein of the immunoglobulin family of cell-adhesion molecules,expressed in renal glomeruli with

CD2 associated protein CD2AP specifically located at the slit membrane extending between foot processes of the

podocytes,mediating filtration through the podocyte filter which sits at the interface of the capillary and the

nephron

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	16525419
GO:0017022	myosin binding	IPI	--
GO:0019904	protein domain specific binding	--	--
GO:0030507	spectrin binding	--	--
GO:0051393	alpha-actinin binding	--	--

NPHS1 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for NPHS1:

Increased G1 DNA content

Increased gamma-H2AX phosphory

4 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Nphs1):

homeostasis/metabolism

mortality/aging

nervous system

renal/urinary system

NPHS1 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for NPHS1

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPHS1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Nephrin interactions

Nephrin interactions

1.00

Nephrin/Neph1 signaling in the kidney podocyte

Nephrin/Neph1 signaling in the kidney podocyte

1.00

Cell-cell junction organization

Cell-Cell communication

0.45

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for NPHS1

Nephrin/Neph1 signaling in the kidney podocyte

2 Reactome Pathways for NPHS1

	Nephrin interactions
	Cell-Cell communication

NPHS1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for NPHS1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/34 Interacting proteins for NPHS1 (O60500^{1, 3} ENSP00000368190⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 34)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NCK1	P16333¹^,³, ENSP00000288986⁴	EBI-996920,EBI-3448658 I2D: score=3 STRING: ENSP00000288986
FYN	P06241³, ENSP00000357656⁴	I2D: score=3 STRING: ENSP00000357656
NPHS2	Q9NP85³, ENSP00000356587⁴	I2D: score=3 STRING: ENSP00000356587
CASK	O14936³, ENSP00000367408⁴	I2D: score=2 STRING: ENSP00000367408
CD2AP	Q9Y5K6³, ENSP00000352264⁴	I2D: score=2 STRING: ENSP00000352264

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000165	MAPK cascade	--	--
GO:0007155	cell adhesion	IEA	--
GO:0007254	JNK cascade	IEA	--
GO:0007519	skeletal muscle tissue development	--	--
GO:0007520	myoblast fusion	IEA	--

NPHS1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

NPHS1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NPHS1
10/16 Novoseek chemical compound relationships for NPHS1 gene (see all 16) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
puromycin aminonucleoside	78.9	8	10792613 (2), 16943307 (1), 15100730 (1), 12655073 (1) (see all 7)
puromycin	55.5	6	11337370 (1), 19079321 (1), 18256598 (1), 19671594 (1)
vegf	32.6	21	15339792 (5), 19042927 (3), 15042541 (2), 19528353 (2) (see all 13)
steroid	27.1	2	15167446 (1), 16752799 (1)
tyrosine	22.3	37	15579503 (6), 12846735 (3), 18256598 (3), 16934223 (2) (see all 14)
adriamycin	21.9	4	12386277 (1), 19042927 (1), 19628668 (1), 20377774 (1)
glucose	1.93	9	19833886 (3), 19533082 (2), 18220580 (1), 19403392 (1) (see all 6)
creatinine	0.0586	3	18685143 (1), 19403392 (1), 19145783 (1)
lipid	0	8	14570703 (4), 11549599 (2), 15327385 (1)
calcium	0	4	11411021 (2), 15843471 (1)

Search CenterWatch for drugs/clinical trials and news about NPHS1 / NPHN

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NPHS1 gene:

NM_004646.3

Unigene Cluster for NPHS1:

Nephrosis 1, congenital, Finnish type (nephrin)

Hs.122186 [show with all ESTs]

Unigene Representative Sequence: NM_004646

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000378910(uc002oby.3) ENST00000353632(uc010eem.1) ENST00000585400

ENST00000592132

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Additional cDNA sequence:

AF035835.1 AF126957.1 AF190637.1 AK310731.1 EU642886.1 EU642887.1

2 DOTS entries:

DT.92415695 DT.200476

12 AceView cDNA sequences:

BX103667 NM_004646 AF035835 AF190637 AI269901 AF126957 AI796032 BV176573

BE393865 AA911284 BI966820 BI963009

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for NPHS1 About this scheme

ExUns:	1	^	2	^	3a	·	3b	·	3c	^	4a	·	4b	^	5
SP1:
SP2:									-

ECgene alternative splicing isoforms for NPHS1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NPHS1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGAGAACTTT

About this image

NPHS1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/24 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 24)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Podocyte Layer

Podocytes

Selective marker (cell-identifying gene)

Kidney

Podocyte Layer

Presumptive Podocytes

Kidney

S-shaped Body Proximal Segment

S-shaped Body Proximal Cells

Kidney

Limb

Forelimb Dorsal Muscles

Mononuclear Myocytes

Skeletal Muscle

Limb

Forelimb Ventral Muscles

Mononuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Dorsal Muscle

Mononuclear Myocytes

Skeletal Muscle

Limb

Hindlimb Ventral Muscle

Mononuclear Myocytes

Skeletal Muscle

Thoracic Epaxial Myotome

Mononuclear Myocytes

Skeletal Muscle

Somite

Cervical Epaxial Myotome

Mononuclear Myocytes

Skeletal Muscle

Somite

Cervical Hypaxial Myotome

Mononuclear Myocytes

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NPHS1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NPHS1

SOURCE GeneReport for Unigene cluster: Hs.122186

UniProtKB/Swiss-Prot: NPHN_HUMAN, O60500

Tissue specificity: Specifically expressed in podocytes of kidney glomeruli

SABiosciences Custom PCR Arrays for NPHS1

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for NPHS1 gene from 4/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	NPHS1⁶	--	46(a)	1 ↔ 1	GL343276.1(991859-1046825)
zebrafish (Danio rerio)	Actinopterygii	nphs1l¹	nephrosis 1, congenital, Finnish type (nephrin)-like	49.53(n) 41.15(a)		692352 NM_001040687.1 NP_001035777.1
fruit fly (Drosophila melanogaster)	Insecta	hbs³ sns¹	regulation of myogenesis³ sticks and stones¹	30(a) (best of 2)³ 45.44(n)¹ 31.47(a)¹		51D8³ 44097¹ NM_176106.1¹ NP_788286.1¹
worm (Caenorhabditis elegans)	Secernentea	C26G2.1³ syg-2¹	Immunoglobulin domain \; Fibronectin type III more³ Protein SYG-2¹	23(a)³ 39.66(n)¹ 27.61(a)¹		X(14690214-14697799)³ 181561¹ NM_078034.2¹ NP_510435.1¹

ENSEMBL Gene Tree for NPHS1 (if available)
TreeFam Gene Tree for NPHS1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for NPHS1 gene

KIRREL² KIRREL3² KIRREL2²

NPHS1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs137853042^1,2	C	pathogenic	32826985(-)	`AGGACC/TGAGTC`	2	R *	stg¹		0	--	--	--	--
rs28939695^1,2	C	pathogenic	32844350(-)	`GGATTG/AAGGGT`	2	/K /E	mis¹ ese³		5		NA EA	620
rs112264552^1,2		--	32820945(+)	`AGAAGG/AAAGGA`	1	--	ds500¹		1		CSA	2
rs74509387^1,2	F	--	32821022(+)	`TTTATT/GGAGAT`	1	--	ut3¹		1		WA	118
rs80296922^1,2	F	--	32821435(+)	`TAAATT/CCCACT`	1	--	ut3¹		1		NA	120
rs10401159^1,2	C	--	32821575(+)	`tttatT/Cttatt`	1	--	ut3¹		1		NA	2
rs71354105^1,2	C	--	32821603(+)	`AATCTC/TGCTCT`	1	--	ut3¹		1		NA	2
rs113978942^1,2		--	32821684(+)	`TCTCAC/TGCATC`	1	--	ut3¹		1		CSA	2
rs73928316^1,2	C,F	--	32821995(+)	`CTGTCA/GCTCAG`	1	--	ut3¹		3		WA CSA	122
rs10402161^1,2	C,H	--	32822030(+)	`CCAAGT/ACCCTT`	1	--	ut3¹		4		NS EA	416

HapMap Linkage Disequilibrium report for NPHS1 (36316274 - 36342895 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for NPHS1
1 CNV: 5097
1 Indel: 102832
Human Gene Mutation Database (HGMD): NPHS1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NPHS1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NPHS1 for disorders           About GeneDecksing

OMIM gene information: 602716
OMIM disorders: 256300
UniProtKB/Swiss-Prot: NPHN_HUMAN, O60500

Defects in NPHS1 are the cause of nephrotic syndrome type 1 (NPHS1) [MIM:256300]; also known as Finnish

congenital nephrosis (CNF). A renal disease characterized clinically by proteinuria, 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

20/38 diseases for NPHS1 (see all 38): About MalaCards

nephrosis proteinuria denys-drash syndrome steroid-resistant nephrotic syndrome

congenital nephrotic syndrome finnish type end stage renal failure focal segmental glomerulosclerosis nephrotic syndrome

necrotizing fasciitis dyskinetic cerebral palsy mesangial sclerosis glomerulosclerosis

athetosis membranous glomerulonephritis amyotrophic lateral sclerosis insulin resistance

fasciitis familial nephrotic syndrome lateral sclerosis nephropathy

6 diseases from the University of Copenhagen DISEASES database for NPHS1:

Nephrotic syndrome Proteinuria Glomerulonephritis Kidney failure

Nephroblastoma Diabetes mellitus

10/33 Novoseek disease relationships for NPHS1 gene (see all 33) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
nphs1	98.7	322	15338398 (10), 15954901 (8), 18503012 (7), 16316524 (7) (see all 95)
nephrotic syndrome	92	167	17371932 (5), 18614772 (4), 10344367 (4), 11337370 (3) (see all 84)
proteinuria	89.1	128	15100730 (5), 19077682 (4), 12224046 (3), 19042927 (3) (see all 75)
glomerulosclerosis, focal segmental	86.6	15	19812541 (3), 11854170 (2), 11337370 (1), 12776268 (1) (see all 10)
glomerulosclerosis	80.8	6	15509792 (2), 19940106 (2), 15613060 (1), 18220694 (1)
mesangial sclerosis, diffuse	78	1	18462046 (1)
nephrosis	76.9	12	18256598 (3), 12660332 (1), 18379524 (1), 19079321 (1) (see all 7)
diabetic nephropathies	75.8	16	12436341 (4), 12224046 (2), 15149332 (2), 19746264 (1) (see all 10)
nephrotic syndrome minimal change	75.7	5	15086927 (1), 12480962 (1), 16889564 (1), 18985619 (1) (see all 5)
nephropathy membranous	74.7	14	14633129 (2), 19882202 (2), 11337370 (1), 19048584 (1) (see all 10)

Genatlas disease: NPHS1

congenital nephrotic syndrome of the Finnish type,autosomal recessive,with mitochondrial dysfunction in the

kidneys,characterized by massive proteinuria already present at birth without extrarenal symptoms and anatomically an

absence of podocyte foot processes and of slit diaphragm

Genetic Association Database (GAD): NPHS1
Human Genome Epidemiology (HuGE) Navigator: NPHS1 (21 documents)

Export disorders for NPHS1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for NPHS1 gene, integrated from 9 sources (see all 334):
(articles sorted by number of sources associating them with NPHS1)

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world of online information

Positionally cloned gene for a novel glomerular protein -- nephrin -- is mutated in congenital nephrotic syndrome. (PubMed id 9660941)^{1, 2, 3, 9} Kestilae M.... Tryggvason K. (1998)
Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations. (PubMed id 9915943)^{1, 2, 3} Lenkkeri U.... Tryggvason K. (1999)
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. (PubMed id 18614772)^{1, 2, 9} Philippe A....Antignac C. (2008)
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. (PubMed id 18503012)^{1, 2, 9} Heeringa S.F....Hildebrandt F. (2008)
Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). (PubMed id 15086927)^{1, 4, 9} Lahdenkari A.T....Jalanko H. (2004)
Nephrin is specifically located at the slit diaphragm of glomerular podocytes. (PubMed id 10393930)^{1, 2, 9} Ruotsalainen V.... Tryggvason K. (1999)
Nephrin localizes at the podocyte filtration slit area and is characteristically spliced in the human kidney. (PubMed id 10550324)^{1, 2, 9} Holthoefer H.... Kerjaschki D. (1999)
Genetic analysis of 22 candidate genes for hypertension in the Japanese population. (PubMed id 15167446)^{1, 4, 9} Iwai N....Shioji K. (2004)
Genetic polymorphism of NPHS1 modifies the clinical manifestations of Ig A nephropathy. (PubMed id 12920248)^{1, 4, 9} Narita I....Gejyo F. (2003)
Two novel NPHS1 mutations in a Chinese family with co ngenital nephrotic syndrome. (PubMed id 22009864)^{1, 2} Wu L.Q....Liang D.S. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4868	HGNC: 7908	AceView: NPHS1	Ensembl:ENSG00000161270	euGenes: HUgn4868
ECgene: NPHS1	H-InvDB: NPHS1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for NPHS1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NPHS1

Intellectual Property for NPHS1 gene
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Patent Information for NPHS1 gene:
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NPHS1 Gene

nephrosis 1, congenital, Finnish type (nephrin)

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Nephrotic Syndrome Minimal Change
Microalbuminuria
Nephritis
Nephropathy Membranous
Sclerosis
Glomerulonephritis Membranoproliferative
Diabetes Mellitus
hypoalbuminemia
HIV-Associated Nephropathy
Nephrotic Syndrome
NPHS1
Albuminuria
Wilms tumor
MESANGIAL SCLEROSIS, DIFFUSE
Nephrosis
RENAL DISEASE
Insulin Resistance
Nephropathy IGA
glomerulosclerosis
Inflammation
Diabetic Nephropathies
GLOMERULOSCLEROSIS, FOCAL SEGMENTAL
Proteinuria
Hyperglycemia
Hypertrophy
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Necrosis
NIDDM
genetic disorder
Preeclampsia
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NPHS1 Gene

nephrosis 1, congenital, Finnish type (nephrin)

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