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Nphs1 nephrosis 1, nephrin [ Mus musculus (house mouse) ]

Gene ID: 54631, updated on 5-Mar-2024

Summary

Official Symbol
Nphs1provided by MGI
Official Full Name
nephrosis 1, nephrinprovided by MGI
Primary source
MGI:MGI:1859637
See related
Ensembl:ENSMUSG00000006649 AllianceGenome:MGI:1859637
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
nephrin; NephrinB
Summary
Predicted to enable cell adhesion molecule binding activity; cytoskeletal protein binding activity; and protein domain specific binding activity. Involved in myoblast fusion; regulation of excretion; and skeletal muscle tissue development. Acts upstream of or within JNK cascade; cell adhesion; and positive regulation of actin filament polymerization. Located in cell projection; focal adhesion; and plasma membrane. Is expressed in central nervous system and metanephros. Used to study nephrotic syndrome. Human ortholog(s) of this gene implicated in nephrotic syndrome type 1. Orthologous to human NPHS1 (NPHS1 adhesion molecule, nephrin). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in kidney adult (RPKM 9.9), small intestine adult (RPKM 0.8) and 2 other tissues See more
Orthologs
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Genomic context

See Nphs1 in Genome Data Viewer
Location:
7 B1; 7 18.36 cM
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (30157259..30188048)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (30458207..30488623)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_18519 Neighboring gene amyloid beta precursor like protein 1 Neighboring gene kirre like nephrin family adhesion molecule 2 Neighboring gene predicted gene, 45979 Neighboring gene nephrosis 1 homolog, nephrin, opposite strand Neighboring gene ribosomal protein S12, pseudogene 4 Neighboring gene proline dehydrogenase (oxidase) 2 Neighboring gene Rho GTPase activating protein 33, opposite strand

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables alpha-actinin binding ISO
Inferred from Sequence Orthology
more info
 
enables cell adhesion molecule binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables myosin binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein domain specific binding ISO
Inferred from Sequence Orthology
more info
 
enables spectrin binding ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in basement membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in cell periphery IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell projection IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cell-cell junction IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane TAS
Traceable Author Statement
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
PubMed 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
 
located_in slit diaphragm ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
nephrin
Names
nephrin 1
nephrosis 1 homolog, nephrin
renal glomerulus-specific cell adhesion receptor

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_019459.2NP_062332.2  nephrin precursor

    See identical proteins and their annotated locations for NP_062332.2

    Status: VALIDATED

    Source sequence(s)
    AC167970, AF172256, AF191090, AK141081
    Consensus CDS
    CCDS39884.1
    UniProtKB/Swiss-Prot
    D2KXA7, Q811S5, Q925S5, Q9ESC6, Q9ET59, Q9JIX1, Q9QZS7
    Related
    ENSMUSP00000006825.9, ENSMUST00000006825.9
    Conserved Domains (6) summary
    smart00410
    Location:859949
    IG_like; Immunoglobulin like
    pfam07679
    Location:460555
    I-set; Immunoglobulin I-set domain
    pfam00041
    Location:9561039
    fn3; Fibronectin type III domain
    pfam08205
    Location:155242
    C2-set_2; CD80-like C2-set immunoglobulin domain
    pfam13927
    Location:753834
    Ig_3; Immunoglobulin domain
    cl11960
    Location:848956
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    30157259..30188048
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036153260.1XP_036009153.1  nephrin isoform X2

    Conserved Domains (6) summary
    smart00410
    Location:38113
    IG_like; Immunoglobulin like
    cd00063
    Location:9411035
    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 ...
    pfam08205
    Location:141228
    C2-set_2; CD80-like C2-set immunoglobulin domain
    pfam13927
    Location:740820
    Ig_3; Immunoglobulin domain
    cd00096
    Location:839844
    Ig; putative Ig strand A [structural motif]
    cl11960
    Location:834942
    Ig; Immunoglobulin domain
  2. XM_011250647.3XP_011248949.1  nephrin isoform X2

    See identical proteins and their annotated locations for XP_011248949.1

    UniProtKB/Swiss-Prot
    Q9QZS7
    Related
    ENSMUSP00000116500.3, ENSMUST00000126297.9
    Conserved Domains (6) summary
    smart00410
    Location:38113
    IG_like; Immunoglobulin like
    cd00063
    Location:9411035
    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 ...
    pfam08205
    Location:141228
    C2-set_2; CD80-like C2-set immunoglobulin domain
    pfam13927
    Location:740820
    Ig_3; Immunoglobulin domain
    cd00096
    Location:839844
    Ig; putative Ig strand A [structural motif]
    cl11960
    Location:834942
    Ig; Immunoglobulin domain
  3. XM_036153259.1XP_036009152.1  nephrin isoform X1

    Conserved Domains (6) summary
    smart00410
    Location:52127
    IG_like; Immunoglobulin like
    cd00063
    Location:9551049
    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 ...
    pfam08205
    Location:155242
    C2-set_2; CD80-like C2-set immunoglobulin domain
    pfam13927
    Location:754834
    Ig_3; Immunoglobulin domain
    cd00096
    Location:853858
    Ig; putative Ig strand A [structural motif]
    cl11960
    Location:848956
    Ig; Immunoglobulin domain