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Nephrocystin-1

 NPHP1_MOUSE             Reviewed;         687 AA.
Q9QY53; Q9D7G8; Q9QZP0; Q9WUZ2;
16-NOV-2001, integrated into UniProtKB/Swiss-Prot.
01-MAY-2000, sequence version 1.
12-SEP-2018, entry version 131.
RecName: Full=Nephrocystin-1;
Name=Nphp1; Synonyms=Nph1;
Mus musculus (Mouse).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
Muroidea; Muridae; Murinae; Mus; Mus.
NCBI_TaxID=10090;
[1]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Diaphragm;
PubMed=10665934;
Otto E., Kispert A., Schaetzle S., Lescher B., Rensing C.,
Hildebrandt F.;
"Nephrocystin: gene expression and sequence conservation between
human, mouse, and Caenorhabditis elegans.";
J. Am. Soc. Nephrol. 11:270-282(2000).
[2]
NUCLEOTIDE SEQUENCE [MRNA], INTERACTION WITH BCAR1, AND SUBCELLULAR
LOCATION.
TISSUE=Embryo;
PubMed=10739664; DOI=10.1006/excr.2000.4822;
Donaldson J.C., Dempsey P.J., Reddy S., Bouton A.H., Coffey R.J.,
Hanks S.K.;
"Crk-associated substrate p130(Cas) interacts with nephrocystin and
both proteins localize to cell-cell contacts of polarized epithelial
cells.";
Exp. Cell Res. 256:168-178(2000).
[3]
NUCLEOTIDE SEQUENCE [MRNA].
Silbermann F., Benessy F., Saunier S., Mollet G., Antignac C.;
"Identification of the mouse Nph1 gene.";
Submitted (JUN-1999) to the EMBL/GenBank/DDBJ databases.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 569-687.
STRAIN=C57BL/6J; TISSUE=Tongue;
PubMed=16141072; DOI=10.1126/science.1112014;
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M.,
Davis M.J., Wilming L.G., Aidinis V., Allen J.E.,
Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L.,
Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M.,
Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R.,
Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G.,
di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G.,
Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M.,
Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N.,
Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T.,
Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H.,
Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K.,
Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J.,
Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L.,
Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K.,
Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P.,
Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O.,
Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G.,
Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M.,
Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B.,
Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K.,
Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A.,
Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K.,
Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C.,
Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J.,
Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y.,
Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T.,
Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N.,
Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N.,
Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S.,
Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J.,
Hayashizaki Y.;
"The transcriptional landscape of the mammalian genome.";
Science 309:1559-1563(2005).
[5]
INTERACTION WITH PTK2B/PYK2.
PubMed=11493697; DOI=10.1073/pnas.171269898;
Benzing T., Gerke P., Hoepker K., Hildebrandt F., Kim E., Walz G.;
"Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers
phosphorylation of Pyk2.";
Proc. Natl. Acad. Sci. U.S.A. 98:9784-9789(2001).
[6]
SUBUNIT, INTERACTION WITH FLNA, SUBCELLULAR LOCATION, AND DOMAIN.
PubMed=12006559; DOI=10.1074/jbc.M111697200;
Donaldson J.C., Dise R.S., Ritchie M.D., Hanks S.K.;
"Nephrocystin-conserved domains involved in targeting to epithelial
cell-cell junctions, interaction with filamins, and establishing cell
polarity.";
J. Biol. Chem. 277:29028-29035(2002).
[7]
SUBCELLULAR LOCATION.
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).
[8]
SUBCELLULAR LOCATION.
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).
[9]
FUNCTION, AND DISRUPTION PHENOTYPE.
PubMed=18684731; DOI=10.1093/hmg/ddn231;
Jiang S.T., Chiou Y.Y., Wang E., Lin H.K., Lee S.P., Lu H.Y.,
Wang C.K., Tang M.J., Li H.;
"Targeted disruption of Nphp1 causes male infertility due to defects
in the later steps of sperm morphogenesis in mice.";
Hum. Mol. Genet. 17:3368-3379(2008).
[10]
FUNCTION, DISRUPTION PHENOTYPE, AND SUBCELLULAR LOCATION.
PubMed=19208653; DOI=10.1093/hmg/ddp068;
Jiang S.T., Chiou Y.Y., Wang E., Chien Y.L., Ho H.H., Tsai F.J.,
Lin C.Y., Tsai S.P., Li H.;
"Essential role of nephrocystin in photoreceptor intraflagellar
transport in mouse.";
Hum. Mol. Genet. 18:1566-1577(2009).
[11]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Testis;
PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
"A tissue-specific atlas of mouse protein phosphorylation and
expression.";
Cell 143:1174-1189(2010).
[12]
INTERACTION WITH PKD1.
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).
[13]
FUNCTION.
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).
[14]
INTERACTION WITH ANKS3.
PubMed=25671767; DOI=10.1038/ki.2015.17;
Yakulov T.A., Yasunaga T., Ramachandran H., Engel C., Mueller B.,
Hoff S., Dengjel J., Lienkamp S.S., Walz G.;
"Anks3 interacts with nephronophthisis proteins and is required for
normal renal development.";
Kidney Int. 87:1191-1200(2015).
-!- 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.
Does not seem to be strictly required for ciliogenesis. 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; required for the differentiation of early
elongating spermatids into spermatozoa.
{ECO:0000269|PubMed:18684731, ECO:0000269|PubMed:19208653,
ECO:0000269|PubMed:21565611}.
-!- SUBUNIT: Interacts with INVS and NPHP3 (By similarity). Interacts
with Crk-associated substrate BCAR1, NPHP4, PTK2B/PYK2 and tensin.
Interacts with AHI1 and TNK2 (By similarity). Interacts with NPHP4
in a complex containing NPHP1, NPHP4 and RPGRIP1L/NPHP8 (By
similarity). Interacts with IQCB1; the interaction likely requires
additional interactors (By similarity). Interacts (via SH3 domain)
with PKD1. Interacts with KIF7 (By similarity). Interacts with
ANKS3 (PubMed:25671767). {ECO:0000250,
ECO:0000269|PubMed:25671767}.
-!- INTERACTION:
Q61140:Bcar1; NbExp=2; IntAct=EBI-77230, EBI-77088;
P59240:Nphp4; NbExp=8; IntAct=EBI-77230, EBI-4281265;
-!- SUBCELLULAR LOCATION: Cell junction, adherens junction. Cell
projection, cilium. Cytoplasm, cytoskeleton, cilium axoneme
{ECO:0000250}. Cell junction, tight junction. Note=Colocalizes
with E-cadherin and BCAR1 at or near the cell-cell adherens
junctions. 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 (By similarity).
{ECO:0000250}.
-!- TISSUE SPECIFICITY: Widespread expression, with highest levels in
testis, in cell stages of the first meiotic division and
thereafter. Weaker expression in skeletal muscle, kidney, thyroid,
ovary, lung, prostate, thymus, uterus, heart and liver. Lowest
levels in brain and spleen.
-!- DEVELOPMENTAL STAGE: Widespread and uniform expression in whole
embryo at all development stages.
-!- DOMAIN: The SH3 domain mediates the stable interaction with Cas
and is involved in establishing tight junctions in epithelial
cells. {ECO:0000269|PubMed:12006559}.
-!- DISRUPTION PHENOTYPE: Mice are viable without renal manifestations
of nephronophthisis. Male mice are infertile with
oligoteratozoospermia. Spermatogenesis is blocked at the early
stages of spermatid elongation, with degenerating spermatids
sloughing off into the lumen. Early elongating spermatids are
detached from Sertoli cells and show a failure of sperm head and
tail morphogenesis and an abnormal F-actin distribution. Severe
retinal degradation with mislocalized rhodopsin, disorganized
outer segments, restricted expression of transducin to the inner
segment and abnormal intraflagellar transport (IFT) of IFT57.
{ECO:0000269|PubMed:18684731, ECO:0000269|PubMed:19208653}.
-!- SIMILARITY: Belongs to the nephrocystin-1 family. {ECO:0000305}.
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EMBL; AF127180; AAF22134.1; -; mRNA.
EMBL; AF176210; AAD54311.1; -; mRNA.
EMBL; AJ243223; CAB45687.1; -; mRNA.
EMBL; AK009252; -; NOT_ANNOTATED_CDS; mRNA.
RefSeq; NP_058598.1; NM_016902.4.
UniGene; Mm.210766; -.
ProteinModelPortal; Q9QY53; -.
SMR; Q9QY53; -.
BioGrid; 207511; 56.
CORUM; Q9QY53; -.
IntAct; Q9QY53; 43.
STRING; 10090.ENSMUSP00000028857; -.
iPTMnet; Q9QY53; -.
PhosphoSitePlus; Q9QY53; -.
MaxQB; Q9QY53; -.
PaxDb; Q9QY53; -.
PRIDE; Q9QY53; -.
GeneID; 53885; -.
KEGG; mmu:53885; -.
CTD; 4867; -.
MGI; MGI:1858233; Nphp1.
eggNOG; ENOG410IE0Z; Eukaryota.
eggNOG; ENOG410XPXZ; LUCA.
HOVERGEN; HBG019088; -.
InParanoid; Q9QY53; -.
KO; K19657; -.
PRO; PR:Q9QY53; -.
Proteomes; UP000000589; Unplaced.
CleanEx; MM_NPHP1; -.
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; ISS:UniProtKB.
GO; GO:0097546; C:ciliary base; IDA:MGI.
GO; GO:0035869; C:ciliary transition zone; IDA:CACAO.
GO; GO:0005737; C:cytoplasm; IDA:CACAO.
GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
GO; GO:0031514; C:motile cilium; ISS:UniProtKB.
GO; GO:0032391; C:photoreceptor connecting cilium; IDA:UniProtKB.
GO; GO:0030030; P:cell projection organization; IMP:UniProtKB.
GO; GO:0034613; P:cellular protein localization; IGI:UniProtKB.
GO; GO:0035845; P:photoreceptor cell outer segment organization; IGI:UniProtKB.
GO; GO:1903348; P:positive regulation of bicellular tight junction assembly; ISO:MGI.
GO; GO:0060041; P:retina development in camera-type eye; IMP:UniProtKB.
GO; GO:0048515; P:spermatid differentiation; IMP: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.
PRINTS; PR00452; SH3DOMAIN.
SMART; SM00326; SH3; 1.
SUPFAM; SSF50044; SSF50044; 1.
PROSITE; PS50002; SH3; 1.
1: Evidence at protein level;
Cell junction; Cell projection; Cilium; Cilium biogenesis/degradation;
Coiled coil; Complete proteome; Cytoplasm; Cytoskeleton;
Differentiation; Phosphoprotein; Reference proteome; SH3 domain;
Spermatogenesis; Tight junction.
CHAIN 1 687 Nephrocystin-1.
/FTId=PRO_0000159586.
DOMAIN 155 215 SH3. {ECO:0000255|PROSITE-
ProRule:PRU00192}.
COILED 10 30 {ECO:0000255}.
COILED 40 106 {ECO:0000255}.
COMPBIAS 116 145 Glu-rich.
COMPBIAS 215 236 Glu-rich.
MOD_RES 46 46 Phosphotyrosine; by FAK2.
{ECO:0000250|UniProtKB:O15259}.
MOD_RES 304 304 Phosphotyrosine; by FAK2.
{ECO:0000250|UniProtKB:O15259}.
CONFLICT 46 46 Y -> C (in Ref. 3; CAB45687).
{ECO:0000305}.
CONFLICT 90 90 E -> G (in Ref. 3; CAB45687).
{ECO:0000305}.
CONFLICT 210 210 L -> W (in Ref. 3; CAB45687).
{ECO:0000305}.
CONFLICT 236 236 D -> DGEED (in Ref. 2). {ECO:0000305}.
CONFLICT 296 296 Missing (in Ref. 3; CAB45687).
{ECO:0000305}.
CONFLICT 360 360 R -> K (in Ref. 3; CAB45687).
{ECO:0000305}.
CONFLICT 477 477 V -> A (in Ref. 3; CAB45687).
{ECO:0000305}.
CONFLICT 549 549 R -> K (in Ref. 3; CAB45687).
{ECO:0000305}.
CONFLICT 569 582 PLLLEQPDVMDALR -> MNGALCCPLSLQEK (in Ref.
4). {ECO:0000305}.
SEQUENCE 687 AA; 77035 MW; FAA10B044F5CE678 CRC64;
MLARRPRDPL QALRRRGQEL KLQVDSLVTE SQLTGALEPS KRREIYQRCI QLKQAVDENK
NTLQKLNKAD EAAPVGNYEQ RKEEEHSLLE KLACQLQELA VSISRKDALK VEAHSDKEED
DTTEDDEEET GGEEEESEGD GEGKQEQASP KQAETETVTY IALGDFAAQQ TGDLTFKKGD
VLHIIEKKPD GWWLAKDAEG VEGLIPRTYL EPYNKEDKLE SSEGSEEGGE EDGEEDVEVV
DETADGAQVK QRTDSHWSAV RKAISEQINT VDVLATMGAI PAGFRPSTLS QLLDEAGNQF
RASYFLQPEL TTSQLAFRDL TWDAKAGTIM SRPSRVSLIL TLWSCKMIPL PGTSIQVLSR
HIRLCLFDGS KVLSNIHTVR AVWQPKKPKT WTFSPQVTGI LPCLLDGDCF IRSNSSTPDL
GILFELGISY IRNSTGERGE LSCGWVFLKL FDASGVPIPA KTYELFLNGG TPYEKGVEVD
PSVSRRAQGS VFRQMISVRR QPQLLVKLRS LNRRSRAMLS LLPETLVGSM CSAHLLIFYR
QILGDVLLRD RTNLQSADLI SHPVLATFPL LLEQPDVMDA LRSSWSEKES TLKRAEKRDK
ELLKAEFLLV YHDCVLPLLH STLLPPFRWA EEETEAARWK AIADFLKQSR ENEGSLKALL
SPDGVHKPFD LSEQTFDFLG EIRKNSG


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