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Q7Z494

- NPHP3_HUMAN

UniProt

Q7Z494 - NPHP3_HUMAN

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Protein

Nephrocystin-3

Gene

NPHP3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements.1 Publication

GO - Biological processi

  1. atrial septum development Source: BHF-UCL
  2. cilium morphogenesis Source: UniProtKB
  3. convergent extension involved in gastrulation Source: BHF-UCL
  4. determination of intestine left/right asymmetry Source: BHF-UCL
  5. determination of left/right symmetry Source: BHF-UCL
  6. determination of liver left/right asymmetry Source: BHF-UCL
  7. determination of pancreatic left/right asymmetry Source: BHF-UCL
  8. determination of stomach left/right asymmetry Source: BHF-UCL
  9. epithelial cilium movement involved in determination of left/right asymmetry Source: BHF-UCL
  10. establishment or maintenance of cell polarity Source: Ensembl
  11. extracellular matrix organization Source: Ensembl
  12. heart looping Source: BHF-UCL
  13. kidney development Source: BHF-UCL
  14. kidney morphogenesis Source: BHF-UCL
  15. lipid metabolic process Source: Ensembl
  16. lung development Source: BHF-UCL
  17. maintenance of organ identity Source: HGNC
  18. negative regulation of canonical Wnt signaling pathway Source: UniProtKB
  19. photoreceptor cell maintenance Source: HGNC
  20. regulation of cAMP metabolic process Source: Ensembl
  21. regulation of planar cell polarity pathway involved in neural tube closure Source: BHF-UCL
  22. regulation of Wnt signaling pathway, planar cell polarity pathway Source: UniProtKB
  23. ureter development Source: BHF-UCL
  24. Wnt signaling pathway Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Wnt signaling pathway

Names & Taxonomyi

Protein namesi
Recommended name:
Nephrocystin-3
Gene namesi
Name:NPHP3
Synonyms:KIAA2000
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:7907. NPHP3.

Subcellular locationi

Cell projectioncilium 2 Publications
Note: Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N-terminus.

GO - Cellular componenti

  1. cilium Source: UniProtKB
  2. primary cilium Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium

Pathology & Biotechi

Involvement in diseasei

Nephronophthisis 3 (NPHP3) [MIM:604387]: An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti360 – 3601S → T in NPHP3. 1 Publication
VAR_022815
Natural varianti386 – 3861N → S in NPHP3. 1 Publication
Corresponds to variant rs142021049 [ dbSNP | Ensembl ].
VAR_022816
Natural varianti397 – 3971R → H in NPHP3. 1 Publication
VAR_022817
Natural varianti1141 – 11411L → P in NPHP3. 1 Publication
VAR_022818
Natural varianti1221 – 12211A → V in NPHP3. 1 Publication
VAR_022819
Natural varianti1252 – 12521S → R in NPHP3. 1 Publication
Corresponds to variant rs143451766 [ dbSNP | Ensembl ].
VAR_022820
Natural varianti1314 – 13141S → T in NPHP3. 1 Publication
Corresponds to variant rs75316802 [ dbSNP | Ensembl ].
VAR_022821
Renal-hepatic-pancreatic dysplasia 1 (RHPD1) [MIM:208540]: A disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti973 – 9731R → Q in RHPD1. 1 Publication
VAR_044121
Meckel syndrome 7 (MKS7) [MIM:267010]: A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Ciliopathy, Disease mutation, Meckel syndrome, Nephronophthisis

Organism-specific databases

MIMi208540. phenotype.
267010. phenotype.
604387. phenotype.
Orphaneti93589. Late-onset autosomal recessive medullary cystic kidney disease.
3032. NPHP3-related Meckel-like syndrome.
294415. Renal-hepatic-pancreatic dysplasia.
3156. Senior-Loken syndrome.
PharmGKBiPA31708.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed
Chaini2 – 13301329Nephrocystin-3PRO_0000106301Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi2 – 21N-myristoyl glycine1 Publication

Keywords - PTMi

Lipoprotein, Myristate

Proteomic databases

MaxQBiQ7Z494.
PaxDbiQ7Z494.
PRIDEiQ7Z494.

PTM databases

PhosphoSiteiQ7Z494.

Expressioni

Tissue specificityi

Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung.1 Publication

Gene expression databases

BgeeiQ7Z494.
ExpressionAtlasiQ7Z494. baseline and differential.
GenevestigatoriQ7Z494.

Organism-specific databases

HPAiHPA009150.

Interactioni

Subunit structurei

Interacts with NPHP1 and INVS/NPHP2. Interacts (when myristoylated) with UNC119 and UNC119B; interaction is required for localization to cilium. Interacts with CEP164. Component of a complex containing at least ANKS6, INVS, NEK8 and NPHP3. ANKS6 may organize complex assembly by linking INVS and NPHP3 to NEK8 and INVS may target the complex to the proximal ciliary axoneme.6 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CEP164Q9UPV02EBI-2804263,EBI-3937015

Protein-protein interaction databases

BioGridi117962. 7 interactions.
IntActiQ7Z494. 6 interactions.
MINTiMINT-8411916.

Structurei

3D structure databases

ProteinModelPortaliQ7Z494.
SMRiQ7Z494. Positions 942-1292.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati471 – 50434TPR 1Add
BLAST
Repeati885 – 91834TPR 2Add
BLAST
Repeati920 – 94223TPR 3Add
BLAST
Repeati943 – 97634TPR 4Add
BLAST
Repeati985 – 101834TPR 5Add
BLAST
Repeati1027 – 106034TPR 6Add
BLAST
Repeati1093 – 112634TPR 7Add
BLAST
Repeati1135 – 116834TPR 8Add
BLAST
Repeati1177 – 121034TPR 9Add
BLAST
Repeati1219 – 125234TPR 10Add
BLAST
Repeati1261 – 129434TPR 11Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili83 – 207125Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Contains 11 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat, TPR repeat

Phylogenomic databases

eggNOGiCOG0457.
GeneTreeiENSGT00390000006393.
HOVERGENiHBG079457.
InParanoidiQ7Z494.
OMAiSMAAEYF.
OrthoDBiEOG7VDXND.
PhylomeDBiQ7Z494.
TreeFamiTF314010.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF13176. TPR_7. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 8 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS50005. TPR. 8 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]

Sequences (7)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 7 isoformsi produced by alternative splicing. Align

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q7Z494-1) [UniParc]FASTAAdd to Basket

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

        10         20         30         40         50
MGTASSLVSP AGGEVIEDTY GAGGGEACEI PVEVKPKARL LRNSFRRGAG
60 70 80 90 100
AAAGAGPGSL PRGVGAGGLL GASFKSTGSS VPELEYAAAE YERLRKEYEI
110 120 130 140 150
FRVSKNQELL SMGRREAKLD TENKRLRAEL QALQKTYQKI LREKESALEA
160 170 180 190 200
KYQAMERAAT FEHDRDKVKR QFKIFRETKE NEIQDLLRAK RELESKLQRL
210 220 230 240 250
QAQGIQVFDP GESDSDDNCT DVTAAGTQCE YWTGGALGSE PSIGSMIQLQ
260 270 280 290 300
QSFRGPEFAH SSIDVEGPFA NVNRDDWDIA VASLLQVTPL FSHSLWSNTV
310 320 330 340 350
RCYLIYTDET QPEMDLFLKD YSPKLKRMCE TMGYFFHAVY FPIDVENQYL
360 370 380 390 400
TVRKWEIEKS SLVILFIHLT LPSLLLEDCE EAFLKNPEGK PRLIFHRLED
410 420 430 440 450
GKVSSDSVQQ LIDQVSNLNK TSKAKIIDHS GDPAEGVYKT YICVEKIIKQ
460 470 480 490 500
DILGFENTDL ETKDLGSEDS IPEEDDFGDV LWDIHDEQEQ METFQQASNS
510 520 530 540 550
AHELGFEKYY QRLNDLVAAP APIPPLLVSG GPGSGKSLLL SKWIQLQQKN
560 570 580 590 600
SPNTLILSHF VGRPMSTSSE SSLIIKRLTL KLMQHSWSVS ALTLDPAKLL
610 620 630 640 650
EEFPRWLEKL SARHQGSIII VIDSIDQVQQ VEKHMKWLID PLPVNVRVIV
660 670 680 690 700
SVNVETCPPA WRLWPTLHLD PLSPKDAKSI IIAECHSVDI KLSKEQEKKL
710 720 730 740 750
ERHCRSATTC NALYVTLFGK MIARAGRAGN LDKILHQCFQ CQDTLSLYRL
760 770 780 790 800
VLHSIRESMA NDVDKELMKQ ILCLVNVSHN GVSESELMEL YPEMSWTFLT
810 820 830 840 850
SLIHSLYKMC LLTYGCGLLR FQHLQAWETV RLEYLEGPTV TSSYRQKLIN
860 870 880 890 900
YFTLQLSQDR VTWRSADELP WLFQQQGSKQ KLHDCLLNLF VSQNLYKRGH
910 920 930 940 950
FAELLSYWQF VGKDKSAMAT EYFDSLKQYE KNCEGEDNMS CLADLYETLG
960 970 980 990 1000
RFLKDLGLLS QAIVPLQRSL EIRETALDPD HPRVAQSLHQ LASVYVQWKK
1010 1020 1030 1040 1050
FGNAEQLYKQ ALEISENAYG ADHPYTAREL EALATLYQKQ NKYEQAEHFR
1060 1070 1080 1090 1100
KKSFKIHQKA IKKKGNLYGF ALLRRRALQL EELTLGKDTP DNARTLNELG
1110 1120 1130 1140 1150
VLYYLQNNLE TADQFLKRSL EMRERVLGPD HPDCAQSLNN LAALCNEKKQ
1160 1170 1180 1190 1200
YDKAEELYER ALDIRRRALA PDHPSLAYTV KHLAILYKKM GKLDKAVPLY
1210 1220 1230 1240 1250
ELAVEIRQKS FGPKHPSVAT ALVNLAVLYS QMKKHVEALP LYERALKIYE
1260 1270 1280 1290 1300
DSLGRMHPRV GETLKNLAVL SYEGGDFEKA AELYKRAMEI KEAETSLLGG
1310 1320 1330
KAPSRHSSSG DTFSLKTAHS PNVFLQQGQR
Length:1,330
Mass (Da):150,864
Last modified:October 1, 2003 - v1
Checksum:i99C1F17C9A5117F8
GO
Isoform 2 (identifier: Q7Z494-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-720: Missing.
     1330-1330: R → RKVQSNLLSPEGLSNICAQEKTTRFTSS

Note: No experimental confirmation available.

Show »
Length:637
Mass (Da):73,014
Checksum:iB12632DACE1A9058
GO
Isoform 3 (identifier: Q7Z494-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     630-636: QVEKHMK → VVAYTSS
     637-1330: Missing.

Show »
Length:636
Mass (Da):71,101
Checksum:i8960364D3DFD50EA
GO
Isoform 4 (identifier: Q7Z494-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     132-181: ALQKTYQKIL...FKIFRETKEN → VTPGWAATPG...HILFESEMIP
     182-1330: Missing.

Note: No experimental confirmation available.

Show »
Length:181
Mass (Da):19,138
Checksum:iF5B40DF9324E1D1E
GO
Isoform 5 (identifier: Q7Z494-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     224-239: AAGTQCEYWTGGALGS → VSLESDQHPGIFIANF
     240-1330: Missing.

Note: No experimental confirmation available.

Show »
Length:239
Mass (Da):26,342
Checksum:i05AFCF865C45DC45
GO
Isoform 6 (identifier: Q7Z494-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     697-704: EKKLERHC → CWESRQFR
     705-1330: Missing.

Show »
Length:704
Mass (Da):79,132
Checksum:i6C99314707B4ED2C
GO
Isoform 7 (identifier: Q7Z494-7) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     132-150: ALQKTYQKILREKESALEA → GLAAVARSRLTATWNSWAQ
     151-1330: Missing.

Note: No experimental confirmation available.

Show »
Length:150
Mass (Da):15,798
Checksum:i10593BB409D181B0
GO

Sequence cautioni

The sequence BAB70891.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC02709.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAC04268.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti223 – 2231T → TT in CAI46202. (PubMed:17974005)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti360 – 3601S → T in NPHP3. 1 Publication
VAR_022815
Natural varianti386 – 3861N → S in NPHP3. 1 Publication
Corresponds to variant rs142021049 [ dbSNP | Ensembl ].
VAR_022816
Natural varianti397 – 3971R → H in NPHP3. 1 Publication
VAR_022817
Natural varianti973 – 9731R → Q in RHPD1. 1 Publication
VAR_044121
Natural varianti1141 – 11411L → P in NPHP3. 1 Publication
VAR_022818
Natural varianti1221 – 12211A → V in NPHP3. 1 Publication
VAR_022819
Natural varianti1252 – 12521S → R in NPHP3. 1 Publication
Corresponds to variant rs143451766 [ dbSNP | Ensembl ].
VAR_022820
Natural varianti1305 – 13051R → C.
Corresponds to variant rs35485382 [ dbSNP | Ensembl ].
VAR_044122
Natural varianti1314 – 13141S → T in NPHP3. 1 Publication
Corresponds to variant rs75316802 [ dbSNP | Ensembl ].
VAR_022821

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 720720Missing in isoform 2. 1 PublicationVSP_014480Add
BLAST
Alternative sequencei132 – 18150ALQKT…ETKEN → VTPGWAATPGDPWEARPSCS LSKPSGFESSAETAHFNLRG HILFESEMIP in isoform 4. 1 PublicationVSP_014482Add
BLAST
Alternative sequencei132 – 15019ALQKT…SALEA → GLAAVARSRLTATWNSWAQ in isoform 7. 1 PublicationVSP_014484Add
BLAST
Alternative sequencei151 – 13301180Missing in isoform 7. 1 PublicationVSP_014485Add
BLAST
Alternative sequencei182 – 13301149Missing in isoform 4. 1 PublicationVSP_014483Add
BLAST
Alternative sequencei224 – 23916AAGTQ…GALGS → VSLESDQHPGIFIANF in isoform 5. 1 PublicationVSP_014486Add
BLAST
Alternative sequencei240 – 13301091Missing in isoform 5. 1 PublicationVSP_014487Add
BLAST
Alternative sequencei630 – 6367QVEKHMK → VVAYTSS in isoform 3. 2 PublicationsVSP_014488
Alternative sequencei637 – 1330694Missing in isoform 3. 2 PublicationsVSP_014489Add
BLAST
Alternative sequencei697 – 7048EKKLERHC → CWESRQFR in isoform 6. 1 PublicationVSP_014490
Alternative sequencei705 – 1330626Missing in isoform 6. 1 PublicationVSP_014491Add
BLAST
Alternative sequencei1330 – 13301R → RKVQSNLLSPEGLSNICAQE KTTRFTSS in isoform 2. 1 PublicationVSP_014481

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY257864 mRNA. Translation: AAP83423.1.
AY257865 mRNA. Translation: AAP83424.1.
AY257866 mRNA. Translation: AAP83425.1.
AB082531 mRNA. Translation: BAC02709.1. Different initiation.
AK055253 mRNA. Translation: BAB70891.1. Different initiation.
AK055893 mRNA. Translation: BAB71038.1.
AK094015 mRNA. Translation: BAC04268.1. Different initiation.
AL832863 mRNA. Translation: CAI46200.2.
AL832877 Transcribed RNA. Translation: CAI46202.1.
CR749498 mRNA. Translation: CAH18321.1.
BC068082 mRNA. Translation: AAH68082.1.
CCDSiCCDS3078.1. [Q7Z494-1]
RefSeqiNP_694972.3. NM_153240.4. [Q7Z494-1]
UniGeneiHs.511991.

Genome annotation databases

EnsembliENST00000337331; ENSP00000338766; ENSG00000113971. [Q7Z494-1]
ENST00000383282; ENSP00000372769; ENSG00000113971. [Q7Z494-7]
ENST00000469232; ENSP00000418664; ENSG00000113971.
GeneIDi27031.
KEGGihsa:27031.
UCSCiuc003epd.2. human. [Q7Z494-2]
uc003epe.2. human. [Q7Z494-1]

Polymorphism databases

DMDMi68565783.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY257864 mRNA. Translation: AAP83423.1 .
AY257865 mRNA. Translation: AAP83424.1 .
AY257866 mRNA. Translation: AAP83425.1 .
AB082531 mRNA. Translation: BAC02709.1 . Different initiation.
AK055253 mRNA. Translation: BAB70891.1 . Different initiation.
AK055893 mRNA. Translation: BAB71038.1 .
AK094015 mRNA. Translation: BAC04268.1 . Different initiation.
AL832863 mRNA. Translation: CAI46200.2 .
AL832877 Transcribed RNA. Translation: CAI46202.1 .
CR749498 mRNA. Translation: CAH18321.1 .
BC068082 mRNA. Translation: AAH68082.1 .
CCDSi CCDS3078.1. [Q7Z494-1 ]
RefSeqi NP_694972.3. NM_153240.4. [Q7Z494-1 ]
UniGenei Hs.511991.

3D structure databases

ProteinModelPortali Q7Z494.
SMRi Q7Z494. Positions 942-1292.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117962. 7 interactions.
IntActi Q7Z494. 6 interactions.
MINTi MINT-8411916.

PTM databases

PhosphoSitei Q7Z494.

Polymorphism databases

DMDMi 68565783.

Proteomic databases

MaxQBi Q7Z494.
PaxDbi Q7Z494.
PRIDEi Q7Z494.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000337331 ; ENSP00000338766 ; ENSG00000113971 . [Q7Z494-1 ]
ENST00000383282 ; ENSP00000372769 ; ENSG00000113971 . [Q7Z494-7 ]
ENST00000469232 ; ENSP00000418664 ; ENSG00000113971 .
GeneIDi 27031.
KEGGi hsa:27031.
UCSCi uc003epd.2. human. [Q7Z494-2 ]
uc003epe.2. human. [Q7Z494-1 ]

Organism-specific databases

CTDi 27031.
GeneCardsi GC03M132277.
GC03M132278.
H-InvDB HIX0003689.
HIX0030824.
HGNCi HGNC:7907. NPHP3.
HPAi HPA009150.
MIMi 208540. phenotype.
267010. phenotype.
604387. phenotype.
608002. gene.
neXtProti NX_Q7Z494.
Orphaneti 93589. Late-onset autosomal recessive medullary cystic kidney disease.
3032. NPHP3-related Meckel-like syndrome.
294415. Renal-hepatic-pancreatic dysplasia.
3156. Senior-Loken syndrome.
PharmGKBi PA31708.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0457.
GeneTreei ENSGT00390000006393.
HOVERGENi HBG079457.
InParanoidi Q7Z494.
OMAi SMAAEYF.
OrthoDBi EOG7VDXND.
PhylomeDBi Q7Z494.
TreeFami TF314010.

Miscellaneous databases

ChiTaRSi NPHP3. human.
GeneWikii NPHP3.
GenomeRNAii 27031.
NextBioi 49564.
PROi Q7Z494.
SOURCEi Search...

Gene expression databases

Bgeei Q7Z494.
ExpressionAtlasi Q7Z494. baseline and differential.
Genevestigatori Q7Z494.

Family and domain databases

Gene3Di 1.25.40.10. 2 hits.
3.40.50.300. 1 hit.
InterProi IPR027417. P-loop_NTPase.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view ]
Pfami PF13176. TPR_7. 1 hit.
[Graphical view ]
SMARTi SM00028. TPR. 8 hits.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
PROSITEi PS50005. TPR. 8 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "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: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 117-1330, NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), NUCLEOTIDE SEQUENCE [MRNA] OF 584-1330 (ISOFORM 3), INTERACTION WITH NPHP1, TISSUE SPECIFICITY, VARIANTS NPHP3 THR-360; SER-386; HIS-397; PRO-1141; VAL-1221; ARG-1252 AND THR-1314.
  2. "Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method."
    Ohara O., Nagase T., Mitsui G., Kohga H., Kikuno R., Hiraoka S., Takahashi Y., Kitajima S., Saga Y., Koseki H.
    DNA Res. 9:47-57(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 319-1330.
    Tissue: Brain, Mammary gland and Uterus.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 555-1330 (ISOFORM 6).
    Tissue: Fetal kidney and Lymph node.
  5. "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 7).
    Tissue: Salivary gland.
  6. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  7. "Nephrocystin-3 is required for ciliary function in zebrafish embryos."
    Zhou W., Dai J., Attanasio M., Hildebrandt F.
    Am. J. Physiol. 299:F55-F62(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  8. Cited for: MYRISTOYLATION AT GLY-2, INTERACTION WITH UNC119 AND UNC119B, SUBCELLULAR LOCATION.
  9. "Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling."
    Chaki M., Airik R., Ghosh A.K., Giles R.H., Chen R., Slaats G.G., Wang H., Hurd T.W., Zhou W., Cluckey A., Gee H.Y., Ramaswami G., Hong C.J., Hamilton B.A., Cervenka I., Ganji R.S., Bryja V., Arts H.H.
    , van Reeuwijk J., Oud M.M., Letteboer S.J., Roepman R., Husson H., Ibraghimov-Beskrovnaya O., Yasunaga T., Walz G., Eley L., Sayer J.A., Schermer B., Liebau M.C., Benzing T., Le Corre S., Drummond I., Janssen S., Allen S.J., Natarajan S., O'Toole J.F., Attanasio M., Saunier S., Antignac C., Koenekoop R.K., Ren H., Lopez I., Nayir A., Stoetzel C., Dollfus H., Massoudi R., Gleeson J.G., Andreoli S.P., Doherty D.G., Lindstrad A., Golzio C., Katsanis N., Pape L., Abboud E.B., Al-Rajhi A.A., Lewis R.A., Omran H., Lee E.Y., Wang S., Sekiguchi J.M., Saunders R., Johnson C.A., Garner E., Vanselow K., Andersen J.S., Shlomai J., Nurnberg G., Nurnberg P., Levy S., Smogorzewska A., Otto E.A., Hildebrandt F.
    Cell 150:533-548(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH CEP164.
  10. Cited for: INTERACTION WITH NEK8.
  11. Cited for: INTERACTION WITH ANKS6; INVS AND NEK8.
  12. Cited for: VARIANT RHPD1 GLN-973, INVOLVEMENT IN MKS7, FUNCTION, INTERACTION WITH INVS.

Entry informationi

Entry nameiNPHP3_HUMAN
AccessioniPrimary (citable) accession number: Q7Z494
Secondary accession number(s): Q5JPE3
, Q5JPE6, Q68D99, Q6NVH3, Q7Z492, Q7Z493, Q8N9R2, Q8NCM5, Q96N70, Q96NK2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: October 1, 2003
Last modified: November 26, 2014
This is version 107 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3