• Gene id: 4868

Gene Summary

• Gene Symbol: NPHS1   Gene   UCSC   Ensembl
• Aliases: CNF, NPHN, nephrin
• Gene name: NPHS1 adhesion molecule, nephrin
• Alternate names: nephrin, NPHS1, nephrin, nephrosis 1, congenital, Finnish type (nephrin), renal glomerulus-specific cell adhesion receptor, truncated NPHS1,
• Gene location: 19q13.12 (35851992: 35825371)     Exons: 29     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 108730

Protein Summary

• Protein general information: O60500  
  • Name: Nephrin (Renal glomerulus specific cell adhesion receptor)
  • Length: 1241  
  • Mass: 134742
  • Tissue specificity: Specifically expressed in podocytes of kidney glomeruli.
• Sequence:

  MALGTTLRASLLLLGLLTEGLAQLAIPASVPRGFWALPENLTVVEGASVELRCGVSTPGSAVQWAKDGLLLGPDP
  RIPGFPRYRLEGDPARGEFHLHIEACDLSDDAEYECQVGRSEMGPELVSPRVILSILVPPKLLLLTPEAGTMVTW
  VAGQEYVVNCVSGDAKPAPDITILLSGQTISDISANVNEGSQQKLFTVEATARVTPRSSDNRQLLVCEASSPALE
  APIKASFTVNVLFPPGPPVIEWPGLDEGHVRAGQSLELPCVARGGNPLATLQWLKNGQPVSTAWGTEHTQAVARS
  VLVMTVRPEDHGAQLSCEAHNSVSAGTQEHGITLQVTFPPSAIIILGSASQTENKNVTLSCVSKSSRPRVLLRWW
  LGWRQLLPMEETVMDGLHGGHISMSNLTFLARREDNGLTLTCEAFSEAFTKETFKKSLILNVKYPAQKLWIEGPP
  EGQKLRAGTRVRLVCLAIGGNPEPSLMWYKDSRTVTESRLPQESRRVHLGSVEKSGSTFSRELVLVTGPSDNQAK
  FTCKAGQLSASTQLAVQFPPTNVTILANASALRPGDALNLTCVSVSSNPPVNLSWDKEGERLEGVAAPPRRAPFK
  GSAAARSVLLQVSSRDHGQRVTCRAHSAELRETVSSFYRLNVLYRPEFLGEQVLVVTAVEQGEALLPVSVSANPA
  PEAFNWTFRGYRLSPAGGPRHRILSSGALHLWNVTRADDGLYQLHCQNSEGTAEARLRLDVHYAPTIRALQDPTE
  VNVGGSVDIVCTVDANPILPGMFNWERLGEDEEDQSLDDMEKISRGPTGRLRIHHAKLAQAGAYQCIVDNGVAPP
  ARRLLRLVVRFAPQVEHPTPLTKVAAAGDSTSSATLHCRARGVPNIVFTWTKNGVPLDLQDPRYTEHTYHQGGVH
  SSLLTIANVSAAQDYALFTCTATNALGSDQTNIQLVSISRPDPPSGLKVVSLTPHSVGLEWKPGFDGGLPQRFCI
  RYEALGTPGFHYVDVVPPQATTFTLTGLQPSTRYRVWLLASNALGDSGLADKGTQLPITTPGLHQPSGEPEDQLP
  TEPPSGPSGLPLLPVLFALGGLLLLSNASCVGGVLWQRRLRRLAEGISEKTEAGSEEDRVRNEYEESQWTGERDT
  QSSTVSTTEAEPYYRSLRDFSPQLPPTQEEVSYSRGFTGEDEDMAFPGHLYDEVERTYPPSGAWGPLYDEVQMGP
  WDLHWPEDTYQDPRGIYDQVAGDLDTLEPDSLPFELRGHLV

• Structural information:
  • Protein Domains: (27..13-)
    1 (/note="Ig-like-C2-type)
    (143..23-)
    2 (/note="Ig-like-C2-type)
    (242..33-)
    3 (/note="Ig-like-C2-type)
    (340..43-)
    4 (/note="Ig-like-C2-type)
    (440..54-)
    5 (/note="Ig-like-C2-type)
    (544..63-)
    (/note="Ig-lik-)
  • Interpro: IPR013162  IPR003961  IPR036116  IPR007110  IPR036179   IPR013783  IPR003599  IPR003598  IPR013106  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • PDB: 4ZRT
  • PDBsum: 4ZRT
  • DIP: 36424
  • STRING: ENSP00000368190
• Other Databases: GeneCards:  NPHS1  Malacards:  NPHS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007517	muscle organ development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0007588	excretion	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0007254	JNK cascade	IEA	biological process
GO:0044062	regulation of excretion	IEA	biological process
GO:0030838	positive regulation of actin filament polymerization	IEA	biological process
GO:0007520	myoblast fusion	IEA	biological process
GO:0007519	skeletal muscle tissue development	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0005925	focal adhesion	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0000165	MAPK cascade	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0072015	glomerular visceral epithelial cell development	IEP	biological process
GO:0036057	slit diaphragm	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0032836	glomerular basement membrane development	IEP	biological process
GO:0035418	protein localization to synapse	IGI	biological process
GO:0017022	myosin binding	IPI	molecular function
GO:0005886	plasma membrane	ISS	cellular component

Diseases

Associated diseases	References
Nephrotic syndrome	KEGG:H01657
Nephrotic syndrome	KEGG:H01657
Nephrotic syndrome type 1	PMID:11317351
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq