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

Species: Mus musculus

Gene Type: protein coding
Gene ID: 53885

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 Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
10739664 MGI
Biological Process GO Annotation Evidence Références 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 Références 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
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

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS09483 NPHP1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Nphp1 NCBI NCBI:4867