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Gene: NPHP1 (nephrocystin 1) Homo sapiens
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Symbol: NPHP1
Name: nephrocystin 1
Description: Involved in positive regulation of bicellular tight junction assembly. Localizes to the cell-cell junction and motile cilium. Implicated in Bardet-Biedl syndrome; Joubert syndrome 4; Senior-Loken syndrome; nephronophthisis; and nephronophthisis 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ97602; JBTS4; juvenile nephronophthisis 1 protein; nephrocystin-1; nephronophthisis 1 (juvenile); NPH1; SLSN1
Orthologs:
Mus musculus (house mouse) : Nphp1 (nephronophthisis 1 (juvenile) homolog (human))  MGI  Alliance
Rattus norvegicus (Norway rat) : Nphp1 (nephrocystin 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Nphp1 (nephrocystin 1)
Pan paniscus (bonobo/pygmy chimpanzee) : NPHP1 (nephrocystin 1)
Canis lupus familiaris (dog) : NPHP1 (nephrocystin 1)
Sus scrofa (pig) : NPHP1 (nephrocystin 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382110,122,311 - 110,205,013 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372110,880,913 - 110,962,639 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362110,237,177 - 110,319,883 (-)NCBINCBI36hg18NCBI36
Build 342110,292,999 - 110,319,969NCBI
Celera2104,844,788 - 104,926,515 (+)NCBI
Cytogenetic Map2q13NCBI
HuRef2104,021,273 - 104,102,972 (-)NCBIHuRef
CHM1_12110,885,220 - 110,966,946 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on NPHP1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1317734
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-10-29
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.