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NPHS1 nephrosis 1, congenital, Finnish type (nephrin) [ Homo sapiens (human) ]

Gene ID: 4868, updated on 19-Jul-2014
Official Symbol
NPHS1provided by HGNC
Official Full Name
nephrosis 1, congenital, Finnish type (nephrin)provided by HGNC
Primary source
HGNC:7908
See related
Ensembl:ENSG00000161270; HPRD:04094; MIM:602716; Vega:OTTHUMG00000180689
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CNF; NPHN; nephrin
Summary
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]
See NPHS1 in Epigenomics, MapViewer
Location:
19q13.1
Exon count:
29
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 19 NC_000019.10 (35825372..35851993, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36316274..36342895, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC644050 Neighboring gene proline dehydrogenase (oxidase) 2 Neighboring gene kin of IRRE like 2 (Drosophila) Neighboring gene amyloid beta (A4) precursor-like protein 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat rapidly induces the redistribution and loss of nephrin by engaging vascular endothelial growth factor receptors types 2 and 3 and the integrin alphavbeta3 in cultured human podocytes PubMed

Go to the HIV-1, Human Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-actinin binding IEA
Inferred from Electronic Annotation
more info
 
myosin binding IPI
Inferred from Physical Interaction
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
spectrin binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
JNK cascade IEA
Inferred from Electronic Annotation
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
excretion TAS
Traceable Author Statement
more info
PubMed 
glomerular basement membrane development IEP
Inferred from Expression Pattern
more info
PubMed 
glomerular visceral epithelial cell development IEP
Inferred from Expression Pattern
more info
PubMed 
myoblast fusion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of actin filament polymerization IEA
Inferred from Electronic Annotation
more info
 
regulation of excretion IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell projection IEA
Inferred from Electronic Annotation
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
protein complex IEA
Inferred from Electronic Annotation
more info
 
slit diaphragm ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
nephrin
Names
nephrin
renal glomerulus-specific cell adhesion receptor

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013356.2 

    Range
    22295..48916
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004646.3NP_004637.1  nephrin precursor

    See proteins identical to NP_004637.1

    Status: REVIEWED

    Source sequence(s)
    AC002133, AF035835, U95090
    Consensus CDS
    CCDS32996.1
    UniProtKB/Swiss-Prot
    O60500
    Related
    ENSP00000368190, OTTHUMP00000264967, ENST00000378910, OTTHUMT00000452553
    Conserved Domains (9) summary
    cd00096
    Location:49113
    Blast Score: 96
    Ig; Immunoglobulin domain
    cd05773
    Location:834942
    Blast Score: 552
    Ig8_hNephrin_like; Eighth immunoglobulin-like domain of nephrin
    smart00408
    Location:45113
    Blast Score: 92
    IGc2; Immunoglobulin C-2 Type
    smart00409
    Location:748821
    Blast Score: 96
    IG; Immunoglobulin
    smart00410
    Location:845935
    Blast Score: 155
    IG_like; Immunoglobulin like
    cd00063
    Location:9411022
    Blast Score: 172
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:646736
    Blast Score: 109
    I-set; Immunoglobulin I-set domain
    pfam08205
    Location:141228
    Blast Score: 197
    C2-set_2; CD80-like C2-set immunoglobulin domain
    cl11960
    Location:549632
    Blast Score: 124
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

    Range
    35825372..35851993
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005258961.1XP_005259018.1  

    Conserved Domains (7) summary
    cd00096
    Location:644709
    Blast Score: 85
    Ig; Immunoglobulin domain
    cd05773
    Location:721829
    Blast Score: 550
    Ig8_hNephrin_like; Eighth immunoglobulin-like domain of nephrin
    smart00410
    Location:732822
    Blast Score: 155
    IG_like; Immunoglobulin like
    cd00063
    Location:828909
    Blast Score: 171
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:533623
    Blast Score: 108
    I-set; Immunoglobulin I-set domain
    pfam08205
    Location:28115
    Blast Score: 196
    C2-set_2; CD80-like C2-set immunoglobulin domain
    cl11960
    Location:436519
    Blast Score: 123
    Ig; Immunoglobulin domain

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    32820999..32848201
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    36317537..36344180
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)