NPHP1

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

NPHP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1S1N
Identifiers
Aliases	NPHP1, JBTS4, NPH1, SLSN1, nephrocystin 1
External IDs	OMIM: 607100; MGI: 1858233; HomoloGene: 229; GeneCards: NPHP1; OMA:NPHP1 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q13 Start 110,122,311 bp[1] End 110,205,066 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 F1 Start 127,582,652 bp[2] End 127,630,817 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube bronchial epithelial cell olfactory zone of nasal mucosa muscle of thigh left testis right testis anterior pituitary buccal mucosa cell gonad gastrocnemius muscle Top expressed in spermatocyte spermatid seminiferous tubule esophagus Epithelium of choroid plexus coelomic epithelium extensor digitorum longus muscle utricle right kidney proximal tubule More reference expression data BioGPS More reference expression data
Gene ontology Molecular function structural molecule activity protein binding Cellular component cytoplasm cytosol cell projection membrane cell-cell junction bicellular tight junction adherens junction cilium photoreceptor connecting cilium cell junction motile cilium cytoskeleton ciliary transition zone Biological process cell differentiation excretion spermatid differentiation cell projection organization retina development in camera-type eye spermatogenesis actin cytoskeleton organization signal transduction visual behavior positive regulation of bicellular tight junction assembly ciliary basal body-plasma membrane docking cell-cell adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4867 53885 Ensembl ENSG00000144061 ENSMUSG00000027378 UniProt O15259 Q9QY53 RefSeq (mRNA) NM_000272 NM_001128178 NM_001128179 NM_207181 NM_001374256 NM_001374257 NM_001291012 NM_001291013 NM_016902 NM_001355429 NM_001369236 RefSeq (protein) NP_000263 NP_001121650 NP_001121651 NP_997064 NP_001361185 NP_001361186 NP_001277941 NP_001277942 NP_058598 NP_001342358 NP_001356165 Location (UCSC) Chr 2: 110.12 – 110.21 Mb Chr 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]