NPHP4

Protein-coding gene in the species Homo sapiens
NPHP4
Identifiers
AliasesNPHP4, POC10, SLSN4, nephronophthisis 4, nephrocystin 4
External IDsOMIM: 607215; MGI: 2384210; HomoloGene: 9024; GeneCards: NPHP4; OMA:NPHP4 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for NPHP4
Genomic location for NPHP4
Band1p36.31Start5,862,811 bp[1]
End5,992,473 bp[1]
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)[2]
Chromosome 4 (mouse)
Genomic location for NPHP4
Genomic location for NPHP4
Band4|4 E2Start152,561,163 bp[2]
End152,647,640 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right uterine tube

  • anterior pituitary

  • right lobe of thyroid gland

  • left lobe of thyroid gland

  • right testis

  • left testis

  • skin of abdomen

  • right frontal lobe

  • skin of leg

  • stromal cell of endometrium
Top expressed in
  • lumbar subsegment of spinal cord

  • primary visual cortex

  • superior frontal gyrus

  • neural layer of retina

  • secondary oocyte

  • dentate gyrus of hippocampal formation granule cell

  • spermatocyte

  • olfactory tubercle

  • spermatid

  • prefrontal cortex
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
  • structural molecule activity
  • protein binding
Cellular component
  • photoreceptor connecting cilium
  • ciliary transition zone
  • cytoplasm
  • ribbon synapse
  • microtubule organizing center
  • cell projection
  • cytosol
  • cell junction
  • cell-cell junction
  • ciliary base
  • centrosome
  • bicellular tight junction
  • cilium
  • cytoskeleton
  • nucleus
  • ciliary basal body
  • non-motile cilium
Biological process
  • retina development in camera-type eye
  • signal transduction
  • photoreceptor cell outer segment organization
  • visual behavior
  • actin cytoskeleton organization
  • photoreceptor cell maintenance
  • hippo signaling
  • flagellated sperm motility
  • positive regulation of bicellular tight junction assembly
  • negative regulation of canonical Wnt signaling pathway
  • ciliary basal body-plasma membrane docking
  • cell-cell adhesion
  • protein localization to ciliary transition zone
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

261734

260305

Ensembl

ENSG00000131697

ENSMUSG00000039577

UniProt

O75161

P59240

RefSeq (mRNA)

NM_001291593
NM_001291594
NM_015102

NM_153424
NM_001355738
NM_001355739

RefSeq (protein)

NP_001278522
NP_001278523
NP_055917

NP_700473
NP_001342667
NP_001342668

Location (UCSC)Chr 1: 5.86 – 5.99 MbChr 4: 152.56 – 152.65 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene.[5][6][7]

This gene encodes a protein which contains a proline-rich region. The encoded protein may function in renal tubular development and function.

This protein interacts with nephrocystin. Mutations in this gene are associated with nephronophthisis type 4. Multiple alternative transcript variants have been described but their full-length nature has not been determined.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000131697 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039577 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Schuermann MJ, Otto E, Becker A, Saar K, Ruschendorf F, Polak BC, Ala-Mello S, Hoefele J, Wiedensohler A, Haller M, Omran H, Nurnberg P, Hildebrandt F (Apr 2002). "Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36". Am J Hum Genet. 70 (5): 1240–6. doi:10.1086/340317. PMC 447598. PMID 11920287.
  6. ^ Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhager R, Sudbrak R, Hennies HC, Nurnberg P, Hildebrandt F (Oct 2002). "A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution". Am J Hum Genet. 71 (5): 1161–7. doi:10.1086/344395. PMC 385091. PMID 12205563.
  7. ^ a b "Entrez Gene: NPHP4 nephronophthisis 4".

Further reading

  • Ishikawa K, Nagase T, Suyama M, et al. (1998). "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (3): 169–76. doi:10.1093/dnares/5.3.169. PMID 9734811.
  • Donaldson JC, Dise RS, Ritchie MD, Hanks SK (2002). "Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity". J. Biol. Chem. 277 (32): 29028–35. doi:10.1074/jbc.M111697200. PMID 12006559.
  • Mollet G, Salomon R, Gribouval O, et al. (2002). "The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin". Nat. Genet. 32 (2): 300–5. doi:10.1038/ng996. PMID 12244321. S2CID 24216974.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Mollet G, Silbermann F, Delous M, et al. (2005). "Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes". Hum. Mol. Genet. 14 (5): 645–56. doi:10.1093/hmg/ddi061. PMID 15661758.
  • Hoefele J, Sudbrak R, Reinhardt R, et al. (2006). "Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis" (PDF). Hum. Mutat. 25 (4): 411. doi:10.1002/humu.9326. hdl:2027.42/39127. PMID 15776426. S2CID 20251528.
  • Roepman R, Letteboer SJ, Arts HH, et al. (2006). "Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations". Proc. Natl. Acad. Sci. U.S.A. 102 (51): 18520–5. doi:10.1073/pnas.0505774102. PMC 1317916. PMID 16339905.
  • Szafranski K, Schindler S, Taudien S, et al. (2007). "Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns". Genome Biology. 8 (8): R154. doi:10.1186/gb-2007-8-8-r154. PMC 2374985. PMID 17672918.
  • Mistry K, Ireland JH, Ng RC, et al. (2007). "Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis". Am. J. Kidney Dis. 50 (5): 855–64. doi:10.1053/j.ajkd.2007.08.009. PMID 17954299.


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