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NPHP4

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

NPHP4

Identifiers

Aliases

NPHP4, POC10, SLSN4, nephronophthisis 4, nephrocystin 4

External IDs

OMIM:607215;MGI:2384210;HomoloGene:9024;GeneCards:NPHP4;OMA:NPHP4 - orthologs

Gene location (Human)

Chr.	Chromosome 1 (human)^[1]

Band	1p36.31	Start	5,862,811bp^[1]
Band	1p36.31	End	5,992,473bp^[1]

Gene location (Mouse)

Chr.	Chromosome 4 (mouse)^[2]

Band	4\|4 E2	Start	152,561,163bp^[2]
Band	4\|4 E2	End	152,647,640bp^[2]

RNA expression pattern

Bgee

Human

Mouse (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

Species

Human

Mouse

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 Mb

Chr 4: 152.56 – 152.65 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Nephrocystin-4 is aprotein that in humans is encoded by theNPHP4gene.^[5]^[6]^[7]

This gene encodes a protein which contains aproline-rich region. The encoded protein may function inrenal tubular development and function.

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

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000131697 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000039577 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^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.
^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.
^^a ^b"Entrez Gene: NPHP4 nephronophthisis 4".

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.

v t e Ciliaryproteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBsome BBS1 BBS2 BBS4 BBS5 BBS7 TTC8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3
see also:ciliopathy

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