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Protein

Nephrocystin-3

Gene

Nphp3

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: 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 that 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

  • atrial septum development Source: MGI
  • cilium morphogenesis Source: UniProtKB
  • convergent extension involved in gastrulation Source: MGI
  • determination of intestine left/right asymmetry Source: MGI
  • determination of left/right symmetry Source: BHF-UCL
  • determination of liver left/right asymmetry Source: MGI
  • determination of pancreatic left/right asymmetry Source: MGI
  • determination of stomach left/right asymmetry Source: MGI
  • establishment or maintenance of cell polarity Source: MGI
  • extracellular matrix organization Source: MGI
  • heart looping Source: MGI
  • kidney development Source: MGI
  • kidney morphogenesis Source: BHF-UCL
  • lipid metabolic process Source: MGI
  • lung development Source: MGI
  • maintenance of animal organ identity Source: HGNC
  • negative regulation of canonical Wnt signaling pathway Source: UniProtKB
  • non-motile cilium assembly Source: MGI
  • photoreceptor cell maintenance Source: MGI
  • regulation of cAMP metabolic process Source: MGI
  • regulation of Wnt signaling pathway, planar cell polarity pathway Source: UniProtKB
  • ureter development Source: MGI
  • Wnt signaling pathway Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Wnt signaling pathway

Enzyme and pathway databases

ReactomeiR-MMU-5624138. Trafficking of myristoylated proteins to the cilium.

Names & Taxonomyi

Protein namesi
Recommended name:
Nephrocystin-3
Gene namesi
Name:Nphp3
Synonyms:Kiaa2000
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 9

Organism-specific databases

MGIiMGI:1921275. Nphp3.

Subcellular locationi

  • Cell projectioncilium By similarity

  • Note: Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N-terminus.By similarity

GO - Cellular componenti

  • ciliary base Source: MGI
  • ciliary inversin compartment Source: MGI
  • cilium Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium

Pathology & Biotechi

Involvement in diseasei

Defects in Nphp3 may be the cause of polycystic kidney disease (pcy). Pcy is a recessive disorder causing chronic renal failure. The Pcy phenotype can be slowed by diet modification such as protein restriction, administration of soy-based proteins, administration of methylprednisolone or treatment with V2R antagonist. In contrast administration of bicarbonate/citrate has no effect.

Disruption phenotypei

Mice show situs inversus, congenital heart defects, and embryonic lethality.1 Publication

Keywords - Diseasei

Disease mutation

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved
ChainiPRO_00001063022 – 1325Nephrocystin-3Add BLAST1324

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi2N-myristoyl glycineBy similarity1

Keywords - PTMi

Lipoprotein, Myristate

Proteomic databases

EPDiQ7TNH6.
PaxDbiQ7TNH6.
PRIDEiQ7TNH6.

PTM databases

iPTMnetiQ7TNH6.
PhosphoSitePlusiQ7TNH6.

Expressioni

Developmental stagei

In gastrulation-stage embryos, it is confined to the node between 7.5 and 8.25 dpc In sections of 14.5 and 16.5 dpc. embryos, it is strongly expressed in neural tissue (brain and ganglions). Also weakly expressed included in kidney tubules, retina, respiratory epithelium, biliary tract and liver. In the adult kidney, it is weakly but specifically expressed in distal tubules located at the cortico-medullary border, which corresponds to the site of cyst formation in mice lacking Nphp3. Expressed in retina and liver.1 Publication

Gene expression databases

BgeeiENSMUSG00000032558.
CleanExiMM_NPHP3.
ExpressionAtlasiQ7TNH6. baseline and differential.
GenevisibleiQ7TNH6. MM.

Interactioni

Subunit structurei

Interacts with NPHP1 and INVS/NPHP2. Interacts (when myristoylated) with UNC119 and UNC119B; interaction is required for localization to cilium (By similarity). Interacts with CEP164 (By similarity). 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 (By similarity).By similarity

Protein-protein interaction databases

BioGridi216433. 15 interactors.
IntActiQ7TNH6. 7 interactors.
STRINGi10090.ENSMUSP00000035167.

Structurei

3D structure databases

ProteinModelPortaliQ7TNH6.
SMRiQ7TNH6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati467 – 500TPR 1Add BLAST34
Repeati881 – 914TPR 2Add BLAST34
Repeati916 – 937TPR 3Add BLAST22
Repeati938 – 971TPR 4Add BLAST34
Repeati980 – 1013TPR 5Add BLAST34
Repeati1022 – 1055TPR 6Add BLAST34
Repeati1088 – 1121TPR 7Add BLAST34
Repeati1130 – 1163TPR 8Add BLAST34
Repeati1172 – 1205TPR 9Add BLAST34
Repeati1214 – 1247TPR 10Add BLAST34
Repeati1256 – 1289TPR 11Add BLAST34

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili107 – 203Sequence analysisAdd BLAST97

Sequence similaritiesi

Contains 11 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG1840. Eukaryota.
COG0457. LUCA.
GeneTreeiENSGT00390000006393.
HOGENOMiHOG000171514.
HOVERGENiHBG079457.
InParanoidiQ7TNH6.
KOiK19360.
OMAiSMAAEYF.
OrthoDBiEOG091G00M2.
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]
SUPFAMiSSF48452. SSF48452. 2 hits.
SSF52540. SSF52540. 1 hit.
PROSITEiPS50005. TPR. 8 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q7TNH6-1) [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 TGGEVIEDTY GAGGGEACEI PVEVKPKARL LRSSFRRGAG
60 70 80 90 100
AGPGSLPRAA GGGGLLGASF KSTGSSVPEL EYAAAEFERL KKEYEIFRVS
110 120 130 140 150
KNQELLSMGR REAKLDTENK RLRAELQALQ KTYQKILREK EGALEAKYQA
160 170 180 190 200
MERAVTFEHD RDRVKRQFKI FRETKENEIQ DLLRAKRELE SKLQRLQAQG
210 220 230 240 250
IQVFDPGESD SDDNCTDVTA AGTQCEYWAS RALGSEHSIG SMIQLPQPFR
260 270 280 290 300
GPEFAHSSID VEGPFANINR DDWDAAVAGL LQATPLFSHS LWSHPVRCYL
310 320 330 340 350
IYTDETQPEM ELFLKDHSPK LKRMCETMGY FFLAVYFPLD VENQYLTVRK
360 370 380 390 400
WEIEKSSLVI LFLHSTLPSF LLEDCEEAFL QNPEGKPGLI YHRLEDGKVT
410 420 430 440 450
CDSVQQFLDQ VSNLGKTTKA KIIEHSGDPA EGVCKIYVGV EKIIKQDILG
460 470 480 490 500
LENTDVEEKD GGREDSTPEE DDFGDVLWDI HDEQEQMEAF QQTSSSAHEL
510 520 530 540 550
GFEKYYQRLD DLVVAPAPIP PLLVSGGPGS GKSLLLSKWI QLQQKHFPNT
560 570 580 590 600
LILSHFVGRP MSTSSESSLI IKRLTLKLMQ HFWAVSALTL DPAKLLEEFP
610 620 630 640 650
HWLEKLSARH QGSIIIIIDS IDQVQQVEKH MKWLIDPLPV NVRVIVSVNV
660 670 680 690 700
ETCPTAWRLW PTLHLDPLSP KDAISIITAE CYSMDVRLSR EQEKMLEQHC
710 720 730 740 750
RPATTRHALY VTLFSKMMAC AGRGGNVAET LHQCLQCQDT VSLYKLVLHH
760 770 780 790 800
VRESMPSDRD KEWMTQILCL INVSHNGVSE SELMELYPEM SWLSLTSIVH
810 820 830 840 850
SLHKMHLLTY SCGLLRFQHL QAWETVRLQY LEDPALVSSY REKLISYFAS
860 870 880 890 900
QLSQDRVTWR SADELPWLFQ QQGSKQKLHS CLLNLLVAQN LYKRGHFAEL
910 920 930 940 950
LSYWQFVGKD KGAMATEYFE SLKQYENSEG EENMLCLADL YETLGRFLKD
960 970 980 990 1000
LGLLSQAVVP LQRSLEIRET ALDPDHPRVA QSLHQLAGVY VQWKKFGDAE
1010 1020 1030 1040 1050
QLYKQALEIS ENAYGADHPH AARELEALAT LYHKQNKYEQ AEHFRKKSVI
1060 1070 1080 1090 1100
IRQQATRRKG SLYGFALLRR RALQLEELTL GKDKPENART LNELGVLYFL
1110 1120 1130 1140 1150
QNNLETAEQF LKRSLEMRER VLGPDHPDCA QSLNNLAALC NEKKQYEKAE
1160 1170 1180 1190 1200
ELYERALDIR RRALAPDHPS LAYTVKHLAI LYKKTGKVDK AVPLYELAVE
1210 1220 1230 1240 1250
IRQKSFGPKH PSVATALVNL AVLHSQMKKH SEALPLYERA LKIYEDSLGR
1260 1270 1280 1290 1300
MHPRVGETLK NLAVLSYEEG NFEKAAELYK RAMEIKEAET SLLGGKAPSR
1310 1320
QSSSGDTFLF KTTHSPNVFL PQGQS
Length:1,325
Mass (Da):150,289
Last modified:February 22, 2012 - v2
Checksum:i6265F1CC7D9809CC
GO
Isoform 2 (identifier: Q7TNH6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     447-462: DILGLENTDVEEKDGG → VNMRFSVKFSSKIASW
     463-1325: Missing.

Note: No experimental confirmation available.
Show »
Length:462
Mass (Da):51,796
Checksum:iC637AB65BD66E7EB
GO

Sequence cautioni

The sequence BAB29319 differs from that shown. Reason: Erroneous termination at position 1326. Translated as stop.Curated
The sequence BAC33481 differs from that shown. Reason: Frameshift at position 69.Curated
The sequence BAC34915 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti308P → H in AAP84621 (PubMed:12872122).Curated1
Sequence conflicti493T → A in AAP84621 (PubMed:12872122).Curated1
Sequence conflicti674I → L in AAP84621 (PubMed:12872122).Curated1
Sequence conflicti678T → I in AAP84621 (PubMed:12872122).Curated1
Sequence conflicti684M → V in AAP84621 (PubMed:12872122).Curated1
Sequence conflicti706Missing in AAP84621 (PubMed:12872122).Curated1
Sequence conflicti732H → R in AAP84621 (PubMed:12872122).Curated1
Sequence conflicti799V → I in AAP84621 (PubMed:12872122).Curated1
Sequence conflicti849A → T in AAP84621 (PubMed:12872122).Curated1
Sequence conflicti1092N → D in BAB29319 (PubMed:16141072).Curated1
Sequence conflicti1293L → S in BAB29319 (PubMed:16141072).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural varianti614I → S in pcy. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_014492447 – 462DILGL…EKDGG → VNMRFSVKFSSKIASW in isoform 2. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_014493463 – 1325Missing in isoform 2. 1 PublicationAdd BLAST863

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY259499 mRNA. Translation: AAP84621.1.
AK014393 mRNA. Translation: BAB29319.1. Sequence problems.
AK048877 mRNA. Translation: BAC33481.1. Frameshift.
AC138739 Genomic DNA. No translation available.
AK052281 mRNA. Translation: BAC34915.1. Different initiation.
AK173327 mRNA. Translation: BAD32605.1.
CCDSiCCDS40749.1. [Q7TNH6-1]
RefSeqiNP_082997.3. NM_028721.3. [Q7TNH6-1]
NP_766048.1. NM_172460.1. [Q7TNH6-2]
UniGeneiMm.479273.

Genome annotation databases

EnsembliENSMUST00000035167; ENSMUSP00000035167; ENSMUSG00000032558. [Q7TNH6-1]
GeneIDi74025.
KEGGimmu:74025.
UCSCiuc009rhb.2. mouse. [Q7TNH6-2]
uc009rhc.2. mouse. [Q7TNH6-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY259499 mRNA. Translation: AAP84621.1.
AK014393 mRNA. Translation: BAB29319.1. Sequence problems.
AK048877 mRNA. Translation: BAC33481.1. Frameshift.
AC138739 Genomic DNA. No translation available.
AK052281 mRNA. Translation: BAC34915.1. Different initiation.
AK173327 mRNA. Translation: BAD32605.1.
CCDSiCCDS40749.1. [Q7TNH6-1]
RefSeqiNP_082997.3. NM_028721.3. [Q7TNH6-1]
NP_766048.1. NM_172460.1. [Q7TNH6-2]
UniGeneiMm.479273.

3D structure databases

ProteinModelPortaliQ7TNH6.
SMRiQ7TNH6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi216433. 15 interactors.
IntActiQ7TNH6. 7 interactors.
STRINGi10090.ENSMUSP00000035167.

PTM databases

iPTMnetiQ7TNH6.
PhosphoSitePlusiQ7TNH6.

Proteomic databases

EPDiQ7TNH6.
PaxDbiQ7TNH6.
PRIDEiQ7TNH6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000035167; ENSMUSP00000035167; ENSMUSG00000032558. [Q7TNH6-1]
GeneIDi74025.
KEGGimmu:74025.
UCSCiuc009rhb.2. mouse. [Q7TNH6-2]
uc009rhc.2. mouse. [Q7TNH6-1]

Organism-specific databases

CTDi27031.
MGIiMGI:1921275. Nphp3.
RougeiSearch...

Phylogenomic databases

eggNOGiKOG1840. Eukaryota.
COG0457. LUCA.
GeneTreeiENSGT00390000006393.
HOGENOMiHOG000171514.
HOVERGENiHBG079457.
InParanoidiQ7TNH6.
KOiK19360.
OMAiSMAAEYF.
OrthoDBiEOG091G00M2.
TreeFamiTF314010.

Enzyme and pathway databases

ReactomeiR-MMU-5624138. Trafficking of myristoylated proteins to the cilium.

Miscellaneous databases

ChiTaRSiNphp3. mouse.
PROiQ7TNH6.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000032558.
CleanExiMM_NPHP3.
ExpressionAtlasiQ7TNH6. baseline and differential.
GenevisibleiQ7TNH6. MM.

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]
SUPFAMiSSF48452. SSF48452. 2 hits.
SSF52540. SSF52540. 1 hit.
PROSITEiPS50005. TPR. 8 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNPHP3_MOUSE
AccessioniPrimary (citable) accession number: Q7TNH6
Secondary accession number(s): D6RHB4
, E9Q5X1, E9QN29, Q69Z39, Q8C798, Q8C7Z3, Q9D6D1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: February 22, 2012
Last modified: November 30, 2016
This is version 114 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.