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O15259 (NPHP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 139. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Nephrocystin-1
Alternative name(s):
Juvenile nephronophthisis 1 protein
Gene names
Name:NPHP1
Synonyms:NPH1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length732 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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.

Subunit structure

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. Ref.6 Ref.7 Ref.8 Ref.9 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17

Subcellular location

Cell junctionadherens junction By similarity. Cell projectioncilium. Cytoplasmcytoskeletoncilium axoneme. Cell junctiontight 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. Ref.9 Ref.11 Ref.15

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). Ref.9

Developmental stage

During in vitro ciliogenesis translocalizes from the cytoplasm to the ciliary transition zone during epithelial cell polarization. Ref.11

Domain

The SH3 domain mediates the stable interaction with Cas By similarity.

Post-translational modification

Phosphorylation by CK2 is required for the interaction with PACS1 and the targeting to the base region of cilia.

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.19

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

Miscellaneous

Nephronophthisis type 1 patients deficient for NPHP1 show normal overall integrity of respiratory cilia.

Sequence similarities

Belongs to the nephrocystin-1 family.

Contains 1 SH3 domain.

Ontologies

Keywords
   Biological processCilium biogenesis/degradation
Differentiation
Spermatogenesis
   Cellular componentCell junction
Cell projection
Cilium
Cytoplasm
Cytoskeleton
Tight junction
   Coding sequence diversityAlternative splicing
   DiseaseCiliopathy
Disease mutation
Joubert syndrome
Nephronophthisis
Senior-Loken syndrome
   DomainCoiled coil
SH3 domain
   PTMPhosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processactin cytoskeleton organization

Non-traceable author statement PubMed 12006559. Source: UniProtKB

cell projection organization

Inferred from sequence or structural similarity. Source: UniProtKB

cell-cell adhesion

Non-traceable author statement PubMed 12006559. Source: UniProtKB

cellular protein localization

Inferred from electronic annotation. Source: Ensembl

excretion

Traceable author statement Ref.1. Source: ProtInc

photoreceptor cell outer segment organization

Inferred from electronic annotation. Source: Ensembl

retina development in camera-type eye

Inferred from sequence or structural similarity. Source: UniProtKB

signal transduction

Non-traceable author statement Ref.6. Source: UniProtKB

spermatid differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

visual behavior

Non-traceable author statement PubMed 12205563. Source: UniProtKB

   Cellular_componentadherens junction

Inferred from electronic annotation. Source: UniProtKB-SubCell

cell-cell junction

Inferred from direct assay Ref.15. Source: UniProtKB

cytoplasm

Inferred from electronic annotation. Source: UniProtKB-KW

cytoskeleton

Inferred from electronic annotation. Source: UniProtKB-KW

membrane

Non-traceable author statement PubMed 10665934. Source: UniProtKB

motile cilium

Inferred from direct assay Ref.11. Source: UniProtKB

photoreceptor connecting cilium

Inferred from sequence or structural similarity. Source: UniProtKB

tight junction

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionstructural molecule activity

Non-traceable author statement PubMed 12006559. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

ADAM15Q134442EBI-953828,EBI-77818
PKD1P981612EBI-953828,EBI-1752013

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O15259-1)

Also known as: NPHP1;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: O15259-2)

Also known as: NPHP1-8A;

The sequence of this isoform differs from the canonical sequence as follows:
     258-312: Missing.
Isoform 3 (identifier: O15259-3)

The sequence of this isoform differs from the canonical sequence as follows:
     49-110: Missing.
     258-313: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: O15259-4)

The sequence of this isoform differs from the canonical sequence as follows:
     313-313: Q → QQ

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 732732Nephrocystin-1
PRO_0000159585

Regions

Domain152 – 21261SH3
Coiled coil3 – 105103 Potential
Coiled coil127 – 15024 Potential
Compositional bias116 – 14732Glu-rich
Compositional bias212 – 22716Glu-rich

Amino acid modifications

Modified residue461Phosphotyrosine; by FAK2 Ref.16
Modified residue1211Phosphoserine; by CK2 Probable
Modified residue1231Phosphoserine; by CK2 Probable
Modified residue1261Phosphoserine; by CK2 Probable
Modified residue3491Phosphotyrosine; by FAK2 Ref.16
Modified residue7211Phosphotyrosine; by SRC Ref.16

Natural variations

Alternative sequence49 – 11062Missing in isoform 3.
VSP_010073
Alternative sequence258 – 31356Missing in isoform 3.
VSP_010074
Alternative sequence258 – 31255Missing in isoform 2.
VSP_003424
Alternative sequence3131Q → QQ in isoform 4.
VSP_024381
Natural variant3421G → R in NPHP1; associated with Cogan-type congenital ocular motor apraxia. Ref.19
Corresponds to variant rs121907899 [ dbSNP | Ensembl ].
VAR_012160

Experimental info

Mutagenesis1211S → A: Impairs interaction with PACS1; when associated with A-123 and A-126. Ref.9
Mutagenesis1231S → A: Impairs interaction with PACS1; when associated with A-121 and A-126. Ref.9
Mutagenesis1261S → A: Impairs interaction with PACS1; when associated with A-121 and A-123. Ref.9
Mutagenesis1801L → P: Loss of SH3 domain fold. Ref.18
Mutagenesis2031P → L: Does not affect fold stability, as assessed by circular dichroism thermal denaturation melting curves and by NMR spectroscopy. Affects interaction with PKD1. Ref.14

Secondary structure

............... 732
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (NPHP1) [UniParc].

Last modified January 1, 1998. Version 1.
Checksum: 270125F56F2C50F7

FASTA73283,299
        10         20         30         40         50         60 
MLARRQRDPL QALRRRNQEL KQQVDSLLSE SQLKEALEPN KRQHIYQRCI QLKQAIDENK 

        70         80         90        100        110        120 
NALQKLSKAD ESAPVANYNQ RKEEEHTLLD KLTQQLQGLA VTISRENITE VGAPTEEEEE 

       130        140        150        160        170        180 
SESEDSEDSG GEEEDAEEEE EEKEENESHK WSTGEEYIAV GDFTAQQVGD LTFKKGEILL 

       190        200        210        220        230        240 
VIEKKPDGWW IAKDAKGNEG LVPRTYLEPY SEEEEGQESS EEGSEEDVEA VDETADGAEV 

       250        260        270        280        290        300 
KQRTDPHWSA VQKAISEAGI FCLVNHVSFC YLIVLMRNRM ETVEDTNGSE TGFRAWNVQS 

       310        320        330        340        350        360 
RGRIFLVSKP VLQINTVDVL TTMGAIPAGF RPSTLSQLLE EGNQFRANYF LQPELMPSQL 

       370        380        390        400        410        420 
AFRDLMWDAT EGTIRSRPSR ISLILTLWSC KMIPLPGMSI QVLSRHVRLC LFDGNKVLSN 

       430        440        450        460        470        480 
IHTVRATWQP KKPKTWTFSP QVTRILPCLL DGDCFIRSNS ASPDLGILFE LGISYIRNST 

       490        500        510        520        530        540 
GERGELSCGW VFLKLFDASG VPIPAKTYEL FLNGGTPYEK GIEVDPSISR RAHGSVFYQI 

       550        560        570        580        590        600 
MTMRRQPQLL VKLRSLNRRS RNVLSLLPET LIGNMCSIHL LIFYRQILGD VLLKDRMSLQ 

       610        620        630        640        650        660 
STDLISHPML ATFPMLLEQP DVMDALRSSW AGKESTLKRS EKRDKEFLKS TFLLVYHDCV 

       670        680        690        700        710        720 
LPLLHSTRLP PFRWAEEETE TARWKVITDF LKQNQENQGA LQALLSPDGV HEPFDLSEQT 

       730 
YDFLGEMRKN AV 

« Hide

Isoform 2 (NPHP1-8A) [UniParc].

Checksum: EB4C60DC4967021D
Show »

FASTA67777,041
Isoform 3 [UniParc].

Checksum: BBBDED56BF312D45
Show »

FASTA61469,909
Isoform 4 [UniParc].

Checksum: B3222151828658D8
Show »

FASTA73383,428

References

« Hide 'large scale' references
[1]"A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis."
Saunier S., Calado J., Heilig R., Silbermann F., Benessy F., Morin G., Konrad M., Broyer M., Gubler M.-C., Weissenbach J., Antignac C.
Hum. Mol. Genet. 6:2317-2323(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
Tissue: Fetal kidney.
[2]"A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1."
Hildebrandt F., Otto E., Rensing C., Nothwang H.G., Vollmer M., Adolphs J., Hanusch H., Brandis M.
Nat. Genet. 17:149-153(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 3-732 (ISOFORM 4), ALTERNATIVE SPLICING.
[3]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
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. expand/collapse author list , 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.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[5]"Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus."
Caridi G., Murer L., Bellantuono R., Sorino P., Caringella D.A., Gusmano R., Ghiggeri G.M.
Am. J. Kidney Dis. 32:1059-1062(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SLSN1.
[6]"The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin."
Mollet G., Salomon R., Gribouval O., Silbermann F., Bacq D., Landthaler G., Milford D., Nayir A., Rizzoni G., Antignac C., Saunier S.
Nat. Genet. 32:300-305(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH NPHP4.
[7]"Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination."
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. expand/collapse author list , Walz G., Drummond I.A., Benzing T., Hildebrandt F.
Nat. Genet. 34:413-420(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH INVS.
[8]"Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis."
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.
Nat. Genet. 34:455-459(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH NPHP3.
[9]"Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia."
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.
EMBO J. 24:4415-4424(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION AT SER-121; SER-123 AND SER-126, MUTAGENESIS OF SER-121; SER-123 AND SER-126, INTERACTION WITH PACS1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[10]"The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome."
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.
Am. J. Hum. Genet. 75:82-91(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN JBTS4.
[11]"Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia."
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.
J. Am. Soc. Nephrol. 17:2424-2433(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE.
[12]"Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct."
Eley L., Moochhala S.H., Simms R., Hildebrandt F., Sayer J.A.
Biochem. Biophys. Res. Commun. 371:877-882(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH TNK2.
[13]"Jouberin localizes to collecting ducts and interacts with nephrocystin-1."
Eley L., Gabrielides C., Adams M., Johnson C.A., Hildebrandt F., Sayer J.A.
Kidney Int. 74:1139-1149(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH AHI1.
[14]"Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals."
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.
PLoS ONE 5:E12719-E12719(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH PKD1, MUTAGENESIS OF PRO-203.
[15]"Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways."
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. expand/collapse author list , 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.
Cell 145:513-528(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, INTERACTION WITH IQCB1; INVS AND NPHP4.
[16]"Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia."
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.
J. Biol. Chem. 286:14237-14245(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH PTK2B/PYK2, PHOSPHORYLATION AT TYR-46; TYR-349 AND TYR-721.
[17]"Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics."
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.
J. Clin. Invest. 121:2662-2667(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH KIF7.
[18]"Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis."
le Maire A., Weber T., Saunier S., Broutin I., Antignac C., Ducruix A., Dardel F.
Proteins 59:347-355(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: STRUCTURE BY NMR OF 147-212, MUTAGENESIS OF LEU-180.
[19]"Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis."
Betz R., Rensing C., Otto E., Mincheva A., Zehnder D., Lichter P., Hildebrandt F.
J. Pediatr. 136:828-831(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NPHP1 ARG-342.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ001815 mRNA. Translation: CAA05030.1.
AF023674 mRNA. Translation: AAC51771.1.
AC013268 Genomic DNA. No translation available.
AC140479 Genomic DNA. No translation available.
BC009789 mRNA. No translation available.
BC062574 mRNA. Translation: AAH62574.1.
RefSeqNP_000263.2. NM_000272.3.
NP_001121650.1. NM_001128178.1.
NP_001121651.1. NM_001128179.1.
NP_997064.2. NM_207181.2.
UniGeneHs.280388.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1S1NNMR-A147-212[»]
ProteinModelPortalO15259.
SMRO15259. Positions 153-212.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110927. 18 interactions.
IntActO15259. 6 interactions.
MINTMINT-2792475.
STRING9606.ENSP00000313169.

PTM databases

PhosphoSiteO15259.

Proteomic databases

PaxDbO15259.
PRIDEO15259.

Protocols and materials databases

DNASU4867.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000316534; ENSP00000313169; ENSG00000144061. [O15259-4]
ENST00000355301; ENSP00000347452; ENSG00000144061. [O15259-3]
ENST00000393272; ENSP00000376953; ENSG00000144061. [O15259-1]
ENST00000445609; ENSP00000389879; ENSG00000144061. [O15259-2]
GeneID4867.
KEGGhsa:4867.
UCSCuc002tfl.4. human. [O15259-4]
uc002tfm.4. human. [O15259-2]
uc002tfn.4. human. [O15259-1]
uc002tfo.4. human. [O15259-3]

Organism-specific databases

CTD4867.
GeneCardsGC02M110879.
HGNCHGNC:7905. NPHP1.
HPAHPA046093.
MIM256100. phenotype.
266900. phenotype.
607100. gene.
609583. phenotype.
neXtProtNX_O15259.
Orphanet220497. Joubert syndrome with renal defect.
93592. Juvenile autosomal recessive medullary cystic kidney disease.
3156. Senior-Loken syndrome.
PharmGKBPA31706.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG85120.
HOGENOMHOG000231753.
HOVERGENHBG019088.
OMAEGNQFRA.
OrthoDBEOG7G4QDT.
PhylomeDBO15259.
TreeFamTF320679.

Enzyme and pathway databases

SignaLinkO15259.

Gene expression databases

ArrayExpressO15259.
BgeeO15259.
CleanExHS_NPHP1.
GenevestigatorO15259.

Family and domain databases

InterProIPR001452. SH3_domain.
[Graphical view]
PfamPF00018. SH3_1. 1 hit.
[Graphical view]
SMARTSM00326. SH3. 1 hit.
[Graphical view]
SUPFAMSSF50044. SSF50044. 1 hit.
PROSITEPS50002. SH3. 1 hit.
[Graphical view]
ProtoNetSearch...

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ChiTaRSNPHP1. human.
EvolutionaryTraceO15259.
GeneWikiNPHP1.
GenomeRNAi4867.
NextBio18742.
PROO15259.
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Entry information

Entry nameNPHP1_HUMAN
AccessionPrimary (citable) accession number: O15259
Secondary accession number(s): O14837
Entry history
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: January 1, 1998
Last modified: April 16, 2014
This is version 139 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM