NPHP1

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)
End	110,205,066 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	127,630,817 bp
RNA expression pattern
	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
	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
	4867
	53885
	ENSG00000144061
	ENSMUSG00000027378
	O15259
	Q9QY53
NM_000272; NM_001128178; NM_001128179; NM_207181; NM_001374256;
	NM_001374257
	NM_001291012; NM_001291013; NM_016902; NM_001355429; NM_001369236
NP_000263; NP_001121650; NP_001121651; NP_997064; NP_001361185;
	NP_001361186
	NP_001277941; NP_001277942; NP_058598; NP_001342358; NP_001356165
	Wikidata
View/Edit Human	View/Edit Mouse

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