NPHP3

Nephrocystin-3 is a protein that in humans is encoded by the NPHP3 gene.^[5][6][7]

NPHP3
Identifiers
Aliases	NPHP3, CFAP31, MKS7, NPH3, RHPD, RHPD1, SLSN3, nephronophthisis 3 (adolescent), nephrocystin 3
External IDs	OMIM: 608002; MGI: 1921275; HomoloGene: 32697; GeneCards: NPHP3; OMA:NPHP3 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3q22.1 Start 132,680,609 bp[1] End 132,722,432 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 F1|9 56.11 cM Start 103,879,743 bp[2] End 103,921,017 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in superficial temporal artery synovial membrane left ovary thymus right uterine tube Achilles tendon urethra right ovary canal of the cervix mucosa of paranasal sinus Top expressed in ventricular zone tail of embryo genital tubercle right kidney superior frontal gyrus primary visual cortex zygote embryo yolk sac embryo More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cell projection cytosol cilium extracellular region Biological process Wnt signaling pathway determination of liver left/right asymmetry determination of pancreatic left/right asymmetry lung development atrial septum development heart looping convergent extension involved in gastrulation ureter development regulation of Wnt signaling pathway, planar cell polarity pathway negative regulation of canonical Wnt signaling pathway epithelial cilium movement involved in determination of left/right asymmetry photoreceptor cell maintenance determination of intestine left/right asymmetry determination of stomach left/right asymmetry regulation of planar cell polarity pathway involved in neural tube closure kidney development determination of left/right symmetry maintenance of animal organ identity cilium assembly kidney morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 27031 74025 Ensembl ENSG00000113971 ENSMUSG00000032558 UniProt Q7Z494 Q7TNH6 RefSeq (mRNA) NM_153240 NM_028721 NM_172460 RefSeq (protein) NP_694972 NP_082997 NP_766048 Location (UCSC) Chr 3: 132.68 – 132.72 Mb Chr 9: 103.88 – 103.92 Mb PubMed search [3] [4]
Wikidata
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This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin and may function in renal tubular development and function. Mutations in this gene are associated with nephronophthisis type 3. Multiple splice variants have been described but their full-length nature has not been determined.^[7]

An association with renal-hepatic-pancreatic dysplasia has been described.^[8]