NPHP1

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Nephrocystin-1 is a protein that in humans is encoded by the NPHP1 gene.[5]

PDBOrtholog search: PDBe RCSB
AliasesNPHP1, JBTS4, NPH1, SLSN1, nephrocystin 1
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NPHP1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesNPHP1, JBTS4, NPH1, SLSN1, nephrocystin 1
External IDsOMIM: 607100; MGI: 1858233; HomoloGene: 229; GeneCards: NPHP1; OMA:NPHP1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001291012
NM_001291013
NM_016902
NM_001355429
NM_001369236

RefSeq (protein)

NP_001277941
NP_001277942
NP_058598
NP_001342358
NP_001356165

Location (UCSC)Chr 2: 110.12 – 110.21 MbChr 2: 127.58 – 127.63 Mb
PubMed search[3][4]
Wikidata
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Function

This gene encodes a protein with src homology domain 3 (SH3) patterns. Mutations in this gene cause familial juvenile nephronophthisis.[5]

Interactions

NPHP1 has been shown to interact with BCAR1,[6][7] PTK2B,[7] Filamin[8] and INVS.[9]

References

Further reading

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