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Gene : NPHP1 Homo sapiens

Name  ? nephrocystin 1 Cytological Location  2q13
Brief Description  nephrocystin 1
description  This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
  • synonyms:
  • HGNC:7905,
  • AF023674,
  • NPHP1,
  • NPH1,
  • SLSN1,
  • JBTS4,
  • NPH1,
  • SLSN1,
  • nephronophthisis 1 (juvenile),
  • uc002tfl.6,
  • OTTHUMG00000131195,
  • NM_000272,
  • JBTS4
  • identifiers:
  • 4867,
  • ENSG00000144061,
  • NPHP1

Genome feature

Region: gene ? Length: 81727  
Location: 2:110123336-110205062 reverse strand Cyto location: 2q13


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

36 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results