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Nephrocystin-1 (Juvenile nephronophthisis 1 protein)

 NPHP1_HUMAN             Reviewed;         732 AA.
O15259; O14837;
16-NOV-2001, integrated into UniProtKB/Swiss-Prot.
01-JAN-1998, sequence version 1.
12-SEP-2018, entry version 178.
RecName: Full=Nephrocystin-1;
AltName: Full=Juvenile nephronophthisis 1 protein;
Name=NPHP1; Synonyms=NPH1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
TISSUE=Fetal kidney;
PubMed=9361039; DOI=10.1093/hmg/6.13.2317;
Saunier S., Calado J., Heilig R., Silbermann F., Benessy F., Morin G.,
Konrad M., Broyer M., Gubler M.-C., Weissenbach J., Antignac C.;
"A novel gene that encodes a protein with a putative src homology 3
domain is a candidate gene for familial juvenile nephronophthisis.";
Hum. Mol. Genet. 6:2317-2323(1997).
[2]
NUCLEOTIDE SEQUENCE [MRNA] OF 3-732 (ISOFORM 4), AND ALTERNATIVE
SPLICING.
PubMed=9326933; DOI=10.1038/ng1097-149;
Hildebrandt F., Otto E., Rensing C., Nothwang H.G., Vollmer M.,
Adolphs J., Hanusch H., Brandis M.;
"A novel gene encoding an SH3 domain protein is mutated in
nephronophthisis type 1.";
Nat. Genet. 17:149-153(1997).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15815621; DOI=10.1038/nature03466;
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
Waterston R.H., Wilson R.K.;
"Generation and annotation of the DNA sequences of human chromosomes 2
and 4.";
Nature 434:724-731(2005).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
INVOLVEMENT IN SLSN1.
PubMed=9856524; DOI=10.1016/S0272-6386(98)70083-6;
Caridi G., Murer L., Bellantuono R., Sorino P., Caringella D.A.,
Gusmano R., Ghiggeri G.M.;
"Renal-retinal syndromes: association of retinal anomalies and
recessive nephronophthisis in patients with homozygous deletion of the
NPH1 locus.";
Am. J. Kidney Dis. 32:1059-1062(1998).
[6]
INTERACTION WITH NPHP4.
PubMed=12244321; DOI=10.1038/ng996;
Mollet G., Salomon R., Gribouval O., Silbermann F., Bacq D.,
Landthaler G., Milford D., Nayir A., Rizzoni G., Antignac C.,
Saunier S.;
"The gene mutated in juvenile nephronophthisis type 4 encodes a novel
protein that interacts with nephrocystin.";
Nat. Genet. 32:300-305(2002).
[7]
INTERACTION WITH INVS.
PubMed=12872123; DOI=10.1038/ng1217;
Otto E.A., Schermer B., Obara T., O'Toole J.F., Hiller K.S.,
Mueller A.M., Ruf R.G., Hoefele J., Beekmann F., Landau D.,
Foreman J.W., Goodship J.A., Strachan T., Kispert A., Wolf M.T.,
Gagnadoux M.F., Nivet H., Antignac C., Walz G., Drummond I.A.,
Benzing T., Hildebrandt F.;
"Mutations in INVS encoding inversin cause nephronophthisis type 2,
linking renal cystic disease to the function of primary cilia and
left-right axis determination.";
Nat. Genet. 34:413-420(2003).
[8]
INTERACTION WITH NPHP3.
PubMed=12872122; DOI=10.1038/ng1216;
Olbrich H., Fliegauf M., Hoefele J., Kispert A., Otto E., Volz A.,
Wolf M.T., Sasmaz G., Trauer U., Reinhardt R., Sudbrak R.,
Antignac C., Gretz N., Walz G., Schermer B., Benzing T.,
Hildebrandt F., Omran H.;
"Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis,
tapeto-retinal degeneration and hepatic fibrosis.";
Nat. Genet. 34:455-459(2003).
[9]
PHOSPHORYLATION AT SER-121; SER-123 AND SER-126, MUTAGENESIS OF
SER-121; SER-123 AND SER-126, INTERACTION WITH PACS1, SUBCELLULAR
LOCATION, AND TISSUE SPECIFICITY.
PubMed=16308564; DOI=10.1038/sj.emboj.7600885;
Schermer B., Hoepker K., Omran H., Ghenoiu C., Fliegauf M., Fekete A.,
Horvath J., Koettgen M., Hackl M., Zschiedrich S., Huber T.B.,
Kramer-Zucker A., Zentgraf H., Blaukat A., Walz G., Benzing T.;
"Phosphorylation by casein kinase 2 induces PACS-1 binding of
nephrocystin and targeting to cilia.";
EMBO J. 24:4415-4424(2005).
[10]
INVOLVEMENT IN JBTS4.
PubMed=15138899; DOI=10.1086/421846;
Parisi M.A., Bennett C.L., Eckert M.L., Dobyns W.B., Gleeson J.G.,
Shaw D.W.W., McDonald R., Eddy A., Chance P.F., Glass I.A.;
"The NPHP1 gene deletion associated with juvenile nephronophthisis is
present in a subset of individuals with Joubert syndrome.";
Am. J. Hum. Genet. 75:82-91(2004).
[11]
SUBCELLULAR LOCATION, AND DEVELOPMENTAL STAGE.
PubMed=16885411; DOI=10.1681/ASN.2005121351;
Fliegauf M., Horvath J., von Schnakenburg C., Olbrich H., Mueller D.,
Thumfart J., Schermer B., Pazour G.J., Neumann H.P., Zentgraf H.,
Benzing T., Omran H.;
"Nephrocystin specifically localizes to the transition zone of renal
and respiratory cilia and photoreceptor connecting cilia.";
J. Am. Soc. Nephrol. 17:2424-2433(2006).
[12]
INTERACTION WITH TNK2.
PubMed=18477472; DOI=10.1016/j.bbrc.2008.05.016;
Eley L., Moochhala S.H., Simms R., Hildebrandt F., Sayer J.A.;
"Nephrocystin-1 interacts directly with Ack1 and is expressed in human
collecting duct.";
Biochem. Biophys. Res. Commun. 371:877-882(2008).
[13]
INTERACTION WITH AHI1.
PubMed=18633336; DOI=10.1038/ki.2008.377;
Eley L., Gabrielides C., Adams M., Johnson C.A., Hildebrandt F.,
Sayer J.A.;
"Jouberin localizes to collecting ducts and interacts with
nephrocystin-1.";
Kidney Int. 74:1139-1149(2008).
[14]
INTERACTION WITH PKD1, AND MUTAGENESIS OF PRO-203.
PubMed=20856870; DOI=10.1371/journal.pone.0012719;
Wodarczyk C., Distefano G., Rowe I., Gaetani M., Bricoli B.,
Muorah M., Spitaleri A., Mannella V., Ricchiuto P., Pema M.,
Castelli M., Casanova A.E., Mollica L., Banzi M., Boca M.,
Antignac C., Saunier S., Musco G., Boletta A.;
"Nephrocystin-1 forms a complex with polycystin-1 via a polyproline
motif/SH3 domain interaction and regulates the apoptotic response in
mammals.";
PLoS ONE 5:E12719-E12719(2010).
[15]
SUBCELLULAR LOCATION, AND INTERACTION WITH IQCB1; INVS AND NPHP4.
PubMed=21565611; DOI=10.1016/j.cell.2011.04.019;
Sang L., Miller J.J., Corbit K.C., Giles R.H., Brauer M.J., Otto E.A.,
Baye L.M., Wen X., Scales S.J., Kwong M., Huntzicker E.G.,
Sfakianos M.K., Sandoval W., Bazan J.F., Kulkarni P.,
Garcia-Gonzalo F.R., Seol A.D., O'Toole J.F., Held S., Reutter H.M.,
Lane W.S., Rafiq M.A., Noor A., Ansar M., Devi A.R., Sheffield V.C.,
Slusarski D.C., Vincent J.B., Doherty D.A., Hildebrandt F.,
Reiter J.F., Jackson P.K.;
"Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease
genes and pathways.";
Cell 145:513-528(2011).
[16]
INTERACTION WITH PTK2B/PYK2, AND PHOSPHORYLATION AT TYR-46; TYR-349
AND TYR-721.
PubMed=21357692; DOI=10.1074/jbc.M110.165464;
Liebau M.C., Hopker K., Muller R.U., Schmedding I., Zank S.,
Schairer B., Fabretti F., Hohne M., Bartram M.P., Dafinger C.,
Hackl M., Burst V., Habbig S., Zentgraf H., Blaukat A., Walz G.,
Benzing T., Schermer B.;
"Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of
nephrocystin-1 to control targeting to monocilia.";
J. Biol. Chem. 286:14237-14245(2011).
[17]
INTERACTION WITH KIF7.
PubMed=21633164; DOI=10.1172/JCI43639;
Dafinger C., Liebau M.C., Elsayed S.M., Hellenbroich Y.,
Boltshauser E., Korenke G.C., Fabretti F., Janecke A.R., Ebermann I.,
Nurnberg G., Nurnberg P., Zentgraf H., Koerber F., Addicks K.,
Elsobky E., Benzing T., Schermer B., Bolz H.J.;
"Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling
and microtubule dynamics.";
J. Clin. Invest. 121:2662-2667(2011).
[18]
INVOLVEMENT IN JBTS4.
PubMed=26477546; DOI=10.1016/j.ajhg.2015.09.009;
Care4Rare Canada Consortium;
Srour M., Hamdan F.F., McKnight D., Davis E., Mandel H.,
Schwartzentruber J., Martin B., Patry L., Nassif C.,
Dionne-Laporte A., Ospina L.H., Lemyre E., Massicotte C.,
Laframboise R., Maranda B., Labuda D., Decarie J.C., Rypens F.,
Goldsher D., Fallet-Bianco C., Soucy J.F., Laberge A.M., Maftei C.,
Boycott K., Brais B., Boucher R.M., Rouleau G.A., Katsanis N.,
Majewski J., Elpeleg O., Kukolich M.K., Shalev S., Michaud J.L.;
"Joubert Syndrome in French Canadians and Identification of Mutations
in CEP104.";
Am. J. Hum. Genet. 97:744-753(2015).
[19]
STRUCTURE BY NMR OF 147-212, AND MUTAGENESIS OF LEU-180.
PubMed=15723349; DOI=10.1002/prot.20344;
le Maire A., Weber T., Saunier S., Broutin I., Antignac C.,
Ducruix A., Dardel F.;
"Solution NMR structure of the SH3 domain of human nephrocystin and
analysis of a mutation-causing juvenile nephronophthisis.";
Proteins 59:347-355(2005).
[20]
VARIANT NPHP1 ARG-342.
PubMed=10839884; DOI=10.1016/S0022-3476(00)01001-5;
Betz R., Rensing C., Otto E., Mincheva A., Zehnder D., Lichter P.,
Hildebrandt F.;
"Children with ocular motor apraxia type Cogan carry deletions in the
gene (NPHP1) for juvenile nephronophthisis.";
J. Pediatr. 136:828-831(2000).
[21]
VARIANT LEU-5, AND CHARACTERIZATION OF VARIANT LEU-5.
PubMed=24746959; DOI=10.1016/j.ajhg.2014.03.017;
Lindstrand A., Davis E.E., Carvalho C.M., Pehlivan D., Willer J.R.,
Tsai I.C., Ramanathan S., Zuppan C., Sabo A., Muzny D., Gibbs R.,
Liu P., Lewis R.A., Banin E., Lupski J.R., Clark R., Katsanis N.;
"Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic
alleles to Bardet-Biedl syndrome.";
Am. J. Hum. Genet. 94:745-754(2014).
-!- FUNCTION: Together with BCAR1 it may play a role in the control of
epithelial cell polarity. Involved in the organization of apical
junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8
(By similarity). Does not seem to be strictly required for
ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2
to cell matrix adhesions, thereby initiating phosphorylation of
PTK2B/PYK2 and PTK2B/PYK2-dependent signaling. May play a role in
the regulation of intraflagellar transport (IFT) during cilia
assembly. Required for normal retina development. In connecting
photoreceptor cilia influences the movement of some IFT proteins
such as IFT88 and WDR19. Involved in spermatogenesis (By
similarity). {ECO:0000250}.
-!- SUBUNIT: Interacts with BCAR1, PTK2B/PYK2 and tensin. Interacts
with INVS and NPHP3. Interacts with PACS1; the interaction is
dependent on NPHP1 phosphorylation by CK2. Interacts with KIF7.
Interacts with AHI1 and TNK2. Interacts with NPHP4 in a complex
containing NPHP1, NPHP4 and RPGRIP1L. Interacts with IQCB1; the
interaction likely requires additional interactors. Interacts with
ANKS3 (By similarity). {ECO:0000250|UniProtKB:Q9QY53,
ECO:0000269|PubMed:12244321, ECO:0000269|PubMed:12872122,
ECO:0000269|PubMed:12872123, ECO:0000269|PubMed:16308564,
ECO:0000269|PubMed:18477472, ECO:0000269|PubMed:18633336,
ECO:0000269|PubMed:20856870, ECO:0000269|PubMed:21357692,
ECO:0000269|PubMed:21565611, ECO:0000269|PubMed:21633164}.
-!- INTERACTION:
Q13444:ADAM15; NbExp=2; IntAct=EBI-953828, EBI-77818;
Q8N157:AHI1; NbExp=4; IntAct=EBI-953828, EBI-1049056;
O75161:NPHP4; NbExp=17; IntAct=EBI-953828, EBI-4281852;
P98161:PKD1; NbExp=2; IntAct=EBI-953828, EBI-1752013;
-!- SUBCELLULAR LOCATION: Cell junction, adherens junction
{ECO:0000250}. Cell projection, cilium. Cytoplasm, cytoskeleton,
cilium axoneme. Cell junction, tight junction. Note=Colocalizes
with E-cadherin and BCAR1 at or near the cell-cell adherens
junctions (By similarity). Localized to respiratory cilia axoneme.
Localized to the transition zone of respiratory cilia,
photoreceptor-connecting cilia and renal monocilia. In cultured
renal cells, it localizes diffusely in the cytoplasm but, as cells
approach confluence, it accumulates to basolateral tight
junctions. {ECO:0000250}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=4;
Name=1; Synonyms=NPHP1;
IsoId=O15259-1; Sequence=Displayed;
Name=2; Synonyms=NPHP1-8A;
IsoId=O15259-2; Sequence=VSP_003424;
Name=3;
IsoId=O15259-3; Sequence=VSP_010073, VSP_010074;
Note=No experimental confirmation available.;
Name=4;
IsoId=O15259-4; Sequence=VSP_024381;
-!- TISSUE SPECIFICITY: Widespread expression, with highest levels in
pituitary gland, spinal cord, thyroid gland, testis, skeletal
muscle, lymph node and trachea. Weakly expressed in heart, kidney
and pancreas. Expressed in nasal epithelial cells (at protein
level). {ECO:0000269|PubMed:16308564}.
-!- DEVELOPMENTAL STAGE: During in vitro ciliogenesis translocalizes
from the cytoplasm to the ciliary transition zone during
epithelial cell polarization. {ECO:0000269|PubMed:16885411}.
-!- DOMAIN: The SH3 domain mediates the stable interaction with Cas.
{ECO:0000250}.
-!- PTM: Phosphorylation by CK2 is required for the interaction with
PACS1 and the targeting to the base region of cilia.
{ECO:0000269|PubMed:16308564, ECO:0000269|PubMed:21357692}.
-!- DISEASE: Nephronophthisis 1 (NPHP1) [MIM:256100]: An autosomal
recessive inherited disease characterized by anemia, polyuria,
polydipsia, isosthenuria and death in uremia. Symmetrical
destruction of the kidneys involving both tubules and glomeruli
occurs. The underlying pathology is a chronic tubulo-interstitial
nephropathy with characteristic tubular basement membrane
thickening and medullary cyst formation. Associations with
extrarenal symptoms, especially ocular lesions, are frequent. The
age at death ranges from about 4 to 15 years.
{ECO:0000269|PubMed:10839884}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Senior-Loken syndrome 1 (SLSN1) [MIM:266900]: A renal-
retinal disorder characterized by progressive wasting of the
filtering unit of the kidney (nephronophthisis), with or without
medullary cystic renal disease, and progressive eye disease.
Typically this disorder becomes apparent during the first year of
life. {ECO:0000269|PubMed:9856524}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- DISEASE: Joubert syndrome 4 (JBTS4) [MIM:609583]: A disorder
presenting with cerebellar ataxia, oculomotor apraxia, hypotonia,
neonatal breathing abnormalities and psychomotor delay.
Neuroradiologically, it is characterized by cerebellar vermian
hypoplasia/aplasia, thickened and reoriented superior cerebellar
peduncles, and an abnormally large interpeduncular fossa, giving
the appearance of a molar tooth on transaxial slices (molar tooth
sign). Additional variable features include retinal dystrophy and
renal disease. Joubert syndrome type 4 is a phenotypically mild
form. {ECO:0000269|PubMed:15138899, ECO:0000269|PubMed:26477546}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- MISCELLANEOUS: Nephronophthisis type 1 patients deficient for
NPHP1 show normal overall integrity of respiratory cilia.
-!- SIMILARITY: Belongs to the nephrocystin-1 family. {ECO:0000305}.
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EMBL; AJ001815; CAA05030.1; -; mRNA.
EMBL; AF023674; AAC51771.1; -; mRNA.
EMBL; AC013268; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AC140479; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC009789; -; NOT_ANNOTATED_CDS; mRNA.
EMBL; BC062574; AAH62574.1; -; mRNA.
CCDS; CCDS2086.1; -. [O15259-4]
CCDS; CCDS46384.1; -. [O15259-3]
CCDS; CCDS46385.1; -. [O15259-1]
CCDS; CCDS46386.1; -. [O15259-2]
RefSeq; NP_000263.2; NM_000272.3. [O15259-4]
RefSeq; NP_001121650.1; NM_001128178.1. [O15259-2]
RefSeq; NP_001121651.1; NM_001128179.1. [O15259-3]
RefSeq; NP_997064.2; NM_207181.2. [O15259-1]
UniGene; Hs.280388; -.
PDB; 1S1N; NMR; -; A=147-212.
PDBsum; 1S1N; -.
ProteinModelPortal; O15259; -.
SMR; O15259; -.
BioGrid; 110927; 85.
CORUM; O15259; -.
IntAct; O15259; 75.
MINT; O15259; -.
STRING; 9606.ENSP00000313169; -.
iPTMnet; O15259; -.
PhosphoSitePlus; O15259; -.
BioMuta; NPHP1; -.
PaxDb; O15259; -.
PeptideAtlas; O15259; -.
PRIDE; O15259; -.
ProteomicsDB; 48545; -.
ProteomicsDB; 48546; -. [O15259-2]
ProteomicsDB; 48547; -. [O15259-3]
ProteomicsDB; 48548; -. [O15259-4]
DNASU; 4867; -.
Ensembl; ENST00000316534; ENSP00000313169; ENSG00000144061. [O15259-4]
Ensembl; ENST00000355301; ENSP00000347452; ENSG00000144061. [O15259-3]
Ensembl; ENST00000393272; ENSP00000376953; ENSG00000144061. [O15259-1]
Ensembl; ENST00000445609; ENSP00000389879; ENSG00000144061. [O15259-2]
GeneID; 4867; -.
KEGG; hsa:4867; -.
UCSC; uc002tfl.6; human. [O15259-1]
CTD; 4867; -.
DisGeNET; 4867; -.
EuPathDB; HostDB:ENSG00000144061.12; -.
GeneCards; NPHP1; -.
GeneReviews; NPHP1; -.
HGNC; HGNC:7905; NPHP1.
HPA; HPA046093; -.
HPA; HPA074071; -.
MalaCards; NPHP1; -.
MIM; 256100; phenotype.
MIM; 266900; phenotype.
MIM; 607100; gene.
MIM; 609583; phenotype.
neXtProt; NX_O15259; -.
OpenTargets; ENSG00000144061; -.
Orphanet; 110; Bardet-Biedl syndrome.
Orphanet; 220497; Joubert syndrome with renal defect.
Orphanet; 93592; Juvenile nephronophthisis.
Orphanet; 3156; Senior-Loken syndrome.
PharmGKB; PA31706; -.
eggNOG; ENOG410IE0Z; Eukaryota.
eggNOG; ENOG410XPXZ; LUCA.
GeneTree; ENSGT00390000007701; -.
HOGENOM; HOG000231753; -.
HOVERGEN; HBG019088; -.
InParanoid; O15259; -.
KO; K19657; -.
OMA; EGNQFRA; -.
OrthoDB; EOG091G05R3; -.
PhylomeDB; O15259; -.
TreeFam; TF320679; -.
Reactome; R-HSA-5620912; Anchoring of the basal body to the plasma membrane.
SignaLink; O15259; -.
SIGNOR; O15259; -.
ChiTaRS; NPHP1; human.
EvolutionaryTrace; O15259; -.
GeneWiki; NPHP1; -.
GenomeRNAi; 4867; -.
PRO; PR:O15259; -.
Proteomes; UP000005640; Chromosome 2.
Bgee; ENSG00000144061; Expressed in 140 organ(s), highest expression level in muscle of leg.
CleanEx; HS_NPHP1; -.
ExpressionAtlas; O15259; baseline and differential.
Genevisible; O15259; HS.
GO; GO:0005912; C:adherens junction; IEA:UniProtKB-SubCell.
GO; GO:0005923; C:bicellular tight junction; IEA:UniProtKB-SubCell.
GO; GO:0005911; C:cell-cell junction; IDA:UniProtKB.
GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
GO; GO:0005829; C:cytosol; TAS:Reactome.
GO; GO:0016020; C:membrane; NAS:UniProtKB.
GO; GO:0031514; C:motile cilium; IDA:UniProtKB.
GO; GO:0032391; C:photoreceptor connecting cilium; ISS:UniProtKB.
GO; GO:0005198; F:structural molecule activity; NAS:UniProtKB.
GO; GO:0030036; P:actin cytoskeleton organization; NAS:UniProtKB.
GO; GO:0030030; P:cell projection organization; ISS:UniProtKB.
GO; GO:0098609; P:cell-cell adhesion; NAS:UniProtKB.
GO; GO:0097711; P:ciliary basal body-plasma membrane docking; TAS:Reactome.
GO; GO:0007588; P:excretion; TAS:ProtInc.
GO; GO:1903348; P:positive regulation of bicellular tight junction assembly; IMP:UniProtKB.
GO; GO:0060041; P:retina development in camera-type eye; ISS:UniProtKB.
GO; GO:0007165; P:signal transduction; NAS:UniProtKB.
GO; GO:0048515; P:spermatid differentiation; ISS:UniProtKB.
GO; GO:0007632; P:visual behavior; NAS:UniProtKB.
CDD; cd11770; SH3_Nephrocystin; 1.
InterPro; IPR030642; NPHP1_SH3.
InterPro; IPR036028; SH3-like_dom_sf.
InterPro; IPR001452; SH3_domain.
Pfam; PF00018; SH3_1; 1.
SMART; SM00326; SH3; 1.
SUPFAM; SSF50044; SSF50044; 1.
PROSITE; PS50002; SH3; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Cell junction; Cell projection;
Ciliopathy; Cilium; Cilium biogenesis/degradation; Coiled coil;
Complete proteome; Cytoplasm; Cytoskeleton; Differentiation;
Disease mutation; Joubert syndrome; Nephronophthisis; Phosphoprotein;
Polymorphism; Reference proteome; Senior-Loken syndrome; SH3 domain;
Spermatogenesis; Tight junction.
CHAIN 1 732 Nephrocystin-1.
/FTId=PRO_0000159585.
DOMAIN 152 212 SH3. {ECO:0000255|PROSITE-
ProRule:PRU00192}.
COILED 3 105 {ECO:0000255}.
COILED 127 150 {ECO:0000255}.
COMPBIAS 116 147 Glu-rich.
COMPBIAS 212 227 Glu-rich.
MOD_RES 46 46 Phosphotyrosine; by FAK2.
{ECO:0000269|PubMed:21357692}.
MOD_RES 121 121 Phosphoserine; by CK2.
{ECO:0000305|PubMed:16308564}.
MOD_RES 123 123 Phosphoserine; by CK2.
{ECO:0000305|PubMed:16308564}.
MOD_RES 126 126 Phosphoserine; by CK2.
{ECO:0000305|PubMed:16308564}.
MOD_RES 349 349 Phosphotyrosine; by FAK2.
{ECO:0000269|PubMed:21357692}.
MOD_RES 721 721 Phosphotyrosine; by SRC.
{ECO:0000269|PubMed:21357692}.
VAR_SEQ 49 110 Missing (in isoform 3).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_010073.
VAR_SEQ 258 313 Missing (in isoform 3).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_010074.
VAR_SEQ 258 312 Missing (in isoform 2).
{ECO:0000303|PubMed:9361039}.
/FTId=VSP_003424.
VAR_SEQ 313 313 Q -> QQ (in isoform 4).
{ECO:0000303|PubMed:9326933}.
/FTId=VSP_024381.
VARIANT 5 5 R -> L (functional polymorphism; changed
function; unable to rescue the
corresponding loss of function zebrafish
mutant which displays a cilium function
alteration phenotype; dbSNP:rs190983114).
{ECO:0000269|PubMed:24746959}.
/FTId=VAR_077633.
VARIANT 342 342 G -> R (in NPHP1; associated with Cogan-
type congenital ocular motor apraxia;
dbSNP:rs121907899).
{ECO:0000269|PubMed:10839884}.
/FTId=VAR_012160.
MUTAGEN 121 121 S->A: Impairs interaction with PACS1;
when associated with A-123 and A-126.
{ECO:0000269|PubMed:16308564}.
MUTAGEN 123 123 S->A: Impairs interaction with PACS1;
when associated with A-121 and A-126.
{ECO:0000269|PubMed:16308564}.
MUTAGEN 126 126 S->A: Impairs interaction with PACS1;
when associated with A-121 and A-123.
{ECO:0000269|PubMed:16308564}.
MUTAGEN 180 180 L->P: Loss of SH3 domain fold.
{ECO:0000269|PubMed:15723349}.
MUTAGEN 203 203 P->L: Does not affect fold stability, as
assessed by circular dichroism thermal
denaturation melting curves and by NMR
spectroscopy. Affects interaction with
PKD1. {ECO:0000269|PubMed:20856870}.
STRAND 155 159 {ECO:0000244|PDB:1S1N}.
STRAND 166 169 {ECO:0000244|PDB:1S1N}.
STRAND 175 181 {ECO:0000244|PDB:1S1N}.
STRAND 186 193 {ECO:0000244|PDB:1S1N}.
STRAND 195 197 {ECO:0000244|PDB:1S1N}.
STRAND 199 204 {ECO:0000244|PDB:1S1N}.
STRAND 207 209 {ECO:0000244|PDB:1S1N}.
SEQUENCE 732 AA; 83299 MW; 270125F56F2C50F7 CRC64;
MLARRQRDPL QALRRRNQEL KQQVDSLLSE SQLKEALEPN KRQHIYQRCI QLKQAIDENK
NALQKLSKAD ESAPVANYNQ RKEEEHTLLD KLTQQLQGLA VTISRENITE VGAPTEEEEE
SESEDSEDSG GEEEDAEEEE EEKEENESHK WSTGEEYIAV GDFTAQQVGD LTFKKGEILL
VIEKKPDGWW IAKDAKGNEG LVPRTYLEPY SEEEEGQESS EEGSEEDVEA VDETADGAEV
KQRTDPHWSA VQKAISEAGI FCLVNHVSFC YLIVLMRNRM ETVEDTNGSE TGFRAWNVQS
RGRIFLVSKP VLQINTVDVL TTMGAIPAGF RPSTLSQLLE EGNQFRANYF LQPELMPSQL
AFRDLMWDAT EGTIRSRPSR ISLILTLWSC KMIPLPGMSI QVLSRHVRLC LFDGNKVLSN
IHTVRATWQP KKPKTWTFSP QVTRILPCLL DGDCFIRSNS ASPDLGILFE LGISYIRNST
GERGELSCGW VFLKLFDASG VPIPAKTYEL FLNGGTPYEK GIEVDPSISR RAHGSVFYQI
MTMRRQPQLL VKLRSLNRRS RNVLSLLPET LIGNMCSIHL LIFYRQILGD VLLKDRMSLQ
STDLISHPML ATFPMLLEQP DVMDALRSSW AGKESTLKRS EKRDKEFLKS TFLLVYHDCV
LPLLHSTRLP PFRWAEEETE TARWKVITDF LKQNQENQGA LQALLSPDGV HEPFDLSEQT
YDFLGEMRKN AV


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