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O15259

- NPHP1_HUMAN

UniProt

O15259 - NPHP1_HUMAN

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Protein
Nephrocystin-1
Gene
NPHP1, NPH1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  1. protein binding Source: UniProtKB
  2. structural molecule activity Source: UniProtKB

GO - Biological processi

  1. actin cytoskeleton organization Source: UniProtKB
  2. cell projection organization Source: UniProtKB
  3. cellular protein localization Source: Ensembl
  4. excretion Source: ProtInc
  5. photoreceptor cell outer segment organization Source: Ensembl
  6. retina development in camera-type eye Source: UniProtKB
  7. signal transduction Source: UniProtKB
  8. single organismal cell-cell adhesion Source: UniProtKB
  9. spermatid differentiation Source: UniProtKB
  10. visual behavior Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Differentiation, Spermatogenesis

Enzyme and pathway databases

SignaLinkiO15259.

Names & Taxonomyi

Protein namesi
Recommended name:
Nephrocystin-1
Alternative name(s):
Juvenile nephronophthisis 1 protein
Gene namesi
Name:NPHP1
Synonyms:NPH1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:7905. NPHP1.

Subcellular locationi

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.3 Publications

GO - Cellular componenti

  1. adherens junction Source: UniProtKB-SubCell
  2. cell-cell junction Source: UniProtKB
  3. cytoplasm Source: UniProtKB-KW
  4. cytoskeleton Source: UniProtKB-KW
  5. membrane Source: UniProtKB
  6. motile cilium Source: UniProtKB
  7. photoreceptor connecting cilium Source: UniProtKB
  8. tight junction Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Tight junction

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti342 – 3421G → R in NPHP1; associated with Cogan-type congenital ocular motor apraxia. 1 Publication
Corresponds to variant rs121907899 [ dbSNP | Ensembl ].
VAR_012160
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.1 Publication
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.1 Publication

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi121 – 1211S → A: Impairs interaction with PACS1; when associated with A-123 and A-126. 1 Publication
Mutagenesisi123 – 1231S → A: Impairs interaction with PACS1; when associated with A-121 and A-126. 1 Publication
Mutagenesisi126 – 1261S → A: Impairs interaction with PACS1; when associated with A-121 and A-123. 1 Publication
Mutagenesisi180 – 1801L → P: Loss of SH3 domain fold. 1 Publication
Mutagenesisi203 – 2031P → L: Does not affect fold stability, as assessed by circular dichroism thermal denaturation melting curves and by NMR spectroscopy. Affects interaction with PKD1. 1 Publication

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Nephronophthisis, Senior-Loken syndrome

Organism-specific databases

MIMi256100. phenotype.
266900. phenotype.
609583. phenotype.
Orphaneti220497. Joubert syndrome with renal defect.
93592. Juvenile autosomal recessive medullary cystic kidney disease.
3156. Senior-Loken syndrome.
PharmGKBiPA31706.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 732732Nephrocystin-1
PRO_0000159585Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei46 – 461Phosphotyrosine; by FAK21 Publication
Modified residuei121 – 1211Phosphoserine; by CK2 Inferred
Modified residuei123 – 1231Phosphoserine; by CK2 Inferred
Modified residuei126 – 1261Phosphoserine; by CK2 Inferred
Modified residuei349 – 3491Phosphotyrosine; by FAK21 Publication
Modified residuei721 – 7211Phosphotyrosine; by SRC1 Publication

Post-translational modificationi

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

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiO15259.
PRIDEiO15259.

PTM databases

PhosphoSiteiO15259.

Expressioni

Tissue specificityi

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).1 Publication

Developmental stagei

During in vitro ciliogenesis translocalizes from the cytoplasm to the ciliary transition zone during epithelial cell polarization.1 Publication

Gene expression databases

ArrayExpressiO15259.
BgeeiO15259.
CleanExiHS_NPHP1.
GenevestigatoriO15259.

Organism-specific databases

HPAiHPA046093.

Interactioni

Subunit structurei

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.10 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ADAM15Q134442EBI-953828,EBI-77818
PKD1P981612EBI-953828,EBI-1752013

Protein-protein interaction databases

BioGridi110927. 18 interactions.
IntActiO15259. 6 interactions.
MINTiMINT-2792475.
STRINGi9606.ENSP00000313169.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi155 – 1595
Beta strandi166 – 1694
Beta strandi175 – 1817
Beta strandi186 – 1938
Beta strandi195 – 1973
Beta strandi199 – 2046
Beta strandi207 – 2093

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1S1NNMR-A147-212[»]
ProteinModelPortaliO15259.
SMRiO15259. Positions 153-212.

Miscellaneous databases

EvolutionaryTraceiO15259.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini152 – 21261SH3
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili3 – 105103 Reviewed prediction
Add
BLAST
Coiled coili127 – 15024 Reviewed prediction
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi116 – 14732Glu-rich
Add
BLAST
Compositional biasi212 – 22716Glu-rich
Add
BLAST

Domaini

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

Sequence similaritiesi

Belongs to the nephrocystin-1 family.
Contains 1 SH3 domain.

Keywords - Domaini

Coiled coil, SH3 domain

Phylogenomic databases

eggNOGiNOG85120.
HOGENOMiHOG000231753.
HOVERGENiHBG019088.
OMAiEGNQFRA.
OrthoDBiEOG7G4QDT.
PhylomeDBiO15259.
TreeFamiTF320679.

Family and domain databases

InterProiIPR001452. SH3_domain.
[Graphical view]
PfamiPF00018. SH3_1. 1 hit.
[Graphical view]
SMARTiSM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
PROSITEiPS50002. SH3. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O15259-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MLARRQRDPL QALRRRNQEL KQQVDSLLSE SQLKEALEPN KRQHIYQRCI    50
QLKQAIDENK NALQKLSKAD ESAPVANYNQ RKEEEHTLLD KLTQQLQGLA 100
VTISRENITE VGAPTEEEEE SESEDSEDSG GEEEDAEEEE EEKEENESHK 150
WSTGEEYIAV GDFTAQQVGD LTFKKGEILL VIEKKPDGWW IAKDAKGNEG 200
LVPRTYLEPY SEEEEGQESS EEGSEEDVEA VDETADGAEV KQRTDPHWSA 250
VQKAISEAGI FCLVNHVSFC YLIVLMRNRM ETVEDTNGSE TGFRAWNVQS 300
RGRIFLVSKP VLQINTVDVL TTMGAIPAGF RPSTLSQLLE EGNQFRANYF 350
LQPELMPSQL AFRDLMWDAT EGTIRSRPSR ISLILTLWSC KMIPLPGMSI 400
QVLSRHVRLC LFDGNKVLSN IHTVRATWQP KKPKTWTFSP QVTRILPCLL 450
DGDCFIRSNS ASPDLGILFE LGISYIRNST GERGELSCGW VFLKLFDASG 500
VPIPAKTYEL FLNGGTPYEK GIEVDPSISR RAHGSVFYQI MTMRRQPQLL 550
VKLRSLNRRS RNVLSLLPET LIGNMCSIHL LIFYRQILGD VLLKDRMSLQ 600
STDLISHPML ATFPMLLEQP DVMDALRSSW AGKESTLKRS EKRDKEFLKS 650
TFLLVYHDCV LPLLHSTRLP PFRWAEEETE TARWKVITDF LKQNQENQGA 700
LQALLSPDGV HEPFDLSEQT YDFLGEMRKN AV 732
Length:732
Mass (Da):83,299
Last modified:January 1, 1998 - v1
Checksum:i270125F56F2C50F7
GO
Isoform 2 (identifier: O15259-2) [UniParc]FASTAAdd to Basket

Also known as: NPHP1-8A

The sequence of this isoform differs from the canonical sequence as follows:
     258-312: Missing.

Show »
Length:677
Mass (Da):77,041
Checksum:iEB4C60DC4967021D
GO
Isoform 3 (identifier: O15259-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     49-110: Missing.
     258-313: Missing.

Note: No experimental confirmation available.

Show »
Length:614
Mass (Da):69,909
Checksum:iBBBDED56BF312D45
GO
Isoform 4 (identifier: O15259-4) [UniParc]FASTAAdd to Basket

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

Show »
Length:733
Mass (Da):83,428
Checksum:iB3222151828658D8
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti342 – 3421G → R in NPHP1; associated with Cogan-type congenital ocular motor apraxia. 1 Publication
Corresponds to variant rs121907899 [ dbSNP | Ensembl ].
VAR_012160

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei49 – 11062Missing in isoform 3.
VSP_010073Add
BLAST
Alternative sequencei258 – 31356Missing in isoform 3.
VSP_010074Add
BLAST
Alternative sequencei258 – 31255Missing in isoform 2.
VSP_003424Add
BLAST
Alternative sequencei313 – 3131Q → QQ in isoform 4.
VSP_024381

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS2086.1. [O15259-4]
CCDS46384.1. [O15259-3]
CCDS46385.1. [O15259-1]
CCDS46386.1. [O15259-2]
RefSeqiNP_000263.2. NM_000272.3. [O15259-4]
NP_001121650.1. NM_001128178.1. [O15259-2]
NP_001121651.1. NM_001128179.1. [O15259-3]
NP_997064.2. NM_207181.2. [O15259-1]
UniGeneiHs.280388.

Genome annotation databases

EnsembliENST00000316534; ENSP00000313169; ENSG00000144061. [O15259-4]
ENST00000355301; ENSP00000347452; ENSG00000144061. [O15259-3]
ENST00000393272; ENSP00000376953; ENSG00000144061. [O15259-1]
ENST00000445609; ENSP00000389879; ENSG00000144061. [O15259-2]
GeneIDi4867.
KEGGihsa:4867.
UCSCiuc002tfl.4. human. [O15259-4]
uc002tfm.4. human. [O15259-2]
uc002tfn.4. human. [O15259-1]
uc002tfo.4. human. [O15259-3]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS2086.1. [O15259-4 ]
CCDS46384.1. [O15259-3 ]
CCDS46385.1. [O15259-1 ]
CCDS46386.1. [O15259-2 ]
RefSeqi NP_000263.2. NM_000272.3. [O15259-4 ]
NP_001121650.1. NM_001128178.1. [O15259-2 ]
NP_001121651.1. NM_001128179.1. [O15259-3 ]
NP_997064.2. NM_207181.2. [O15259-1 ]
UniGenei Hs.280388.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1S1N NMR - A 147-212 [» ]
ProteinModelPortali O15259.
SMRi O15259. Positions 153-212.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110927. 18 interactions.
IntActi O15259. 6 interactions.
MINTi MINT-2792475.
STRINGi 9606.ENSP00000313169.

PTM databases

PhosphoSitei O15259.

Proteomic databases

PaxDbi O15259.
PRIDEi O15259.

Protocols and materials databases

DNASUi 4867.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000316534 ; ENSP00000313169 ; ENSG00000144061 . [O15259-4 ]
ENST00000355301 ; ENSP00000347452 ; ENSG00000144061 . [O15259-3 ]
ENST00000393272 ; ENSP00000376953 ; ENSG00000144061 . [O15259-1 ]
ENST00000445609 ; ENSP00000389879 ; ENSG00000144061 . [O15259-2 ]
GeneIDi 4867.
KEGGi hsa:4867.
UCSCi uc002tfl.4. human. [O15259-4 ]
uc002tfm.4. human. [O15259-2 ]
uc002tfn.4. human. [O15259-1 ]
uc002tfo.4. human. [O15259-3 ]

Organism-specific databases

CTDi 4867.
GeneCardsi GC02M110879.
GeneReviewsi NPHP1.
HGNCi HGNC:7905. NPHP1.
HPAi HPA046093.
MIMi 256100. phenotype.
266900. phenotype.
607100. gene.
609583. phenotype.
neXtProti NX_O15259.
Orphaneti 220497. Joubert syndrome with renal defect.
93592. Juvenile autosomal recessive medullary cystic kidney disease.
3156. Senior-Loken syndrome.
PharmGKBi PA31706.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG85120.
HOGENOMi HOG000231753.
HOVERGENi HBG019088.
OMAi EGNQFRA.
OrthoDBi EOG7G4QDT.
PhylomeDBi O15259.
TreeFami TF320679.

Enzyme and pathway databases

SignaLinki O15259.

Miscellaneous databases

ChiTaRSi NPHP1. human.
EvolutionaryTracei O15259.
GeneWikii NPHP1.
GenomeRNAii 4867.
NextBioi 18742.
PROi O15259.
SOURCEi Search...

Gene expression databases

ArrayExpressi O15259.
Bgeei O15259.
CleanExi HS_NPHP1.
Genevestigatori O15259.

Family and domain databases

InterProi IPR001452. SH3_domain.
[Graphical view ]
Pfami PF00018. SH3_1. 1 hit.
[Graphical view ]
SMARTi SM00326. SH3. 1 hit.
[Graphical view ]
SUPFAMi SSF50044. SSF50044. 1 hit.
PROSITEi PS50002. SH3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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. 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. 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.

Entry informationi

Entry nameiNPHP1_HUMAN
AccessioniPrimary (citable) accession number: O15259
Secondary accession number(s): O14837
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: January 1, 1998
Last modified: September 3, 2014
This is version 143 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Miscellaneous

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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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