Nphp1 - nephronophthisis 1 (juvenile) homolog (human) Gene

Mus musculus

Gene ID: 53885 | Gene type: protein coding

About Nphp1

Summary

Involved in several processes, including photoreceptor cell outer segment organization; retina development in camera-type eye; and spermatid differentiation. Located in ciliary base; cytoplasm; and photoreceptor distal connecting cilium. Is expressed in several structures, including central nervous system; genitourinary system; gut; respiratory system; and white fat. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Joubert syndrome 4; Senior-Loken syndrome; nephronophthisis; and nephronophthisis 1. Orthologous to human NPHP1 (nephrocystin 1). [provided by Alliance of Genome Resources, Apr 2022]

Nphp1 Products(10)

mRNA	Protein	Name
NM_001291012.1	NP_001277941.1	nephrocystin-1 isoform b
NM_001291013.1	NP_001277942.1	nephrocystin-1 isoform c
NM_001355429.1	NP_001342358.1	nephrocystin-1 isoform d
NM_001369236.1	NP_001356165.1	nephrocystin-1 isoform e
NM_016902.4	NP_058598.1	nephrocystin-1 isoform a
NM_001291012.1	NP_001277941.1	nephrocystin-1 isoform b
NM_001291013.1	NP_001277942.1	nephrocystin-1 isoform c
NM_001355429.1	NP_001342358.1	nephrocystin-1 isoform d
NM_001369236.1	NP_001356165.1	nephrocystin-1 isoform e
NM_016902.4	NP_058598.1	nephrocystin-1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10739664	MGI

Biological Process GO Annotation	Evidence	Reference	Source
involved in cell projection organization	IMP IMP: Inferred from mutant phenotype	19208653	MGI
involved in photoreceptor cell outer segment organization	IGI IGI: Inferred from genetic interaction	20081859	MGI
involved in protein localization	IGI IGI: Inferred from genetic interaction	20081859	MGI
involved in retina development in camera-type eye	IMP IMP: Inferred from mutant phenotype	19208653	MGI
involved in spermatid differentiation	IMP IMP: Inferred from mutant phenotype	18684731	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in ciliary base	IDA IDA: Inferred from direct assay	20169535	MGI
located in ciliary transition zone	IDA IDA: Inferred from direct assay	20169535	MGI
located in cilium	IDA IDA: Inferred from direct assay	20172860	MGI
located in cytoplasm	IDA IDA: Inferred from direct assay	21565611	MGI
located in photoreceptor connecting cilium	IDA IDA: Inferred from direct assay	16885411	MGI
located in photoreceptor distal connecting cilium	IDA IDA: Inferred from direct assay	29899041	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

nephrocystin-1

Nphp1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	Nphp1	Q9QY53	Nphp4	Mus musculus	P59240	Anti Tag CoIP	21565611
Intra	Nphp1	Q9QY53	Bcar1	Mus musculus	Q61140	CoIP	10739664

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09483	NPHP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Nphp1	NCBI	NCBI:4867

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