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Protein

Nephrocystin-3

Gene

Nphp3

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -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 assembly Source: BHF-UCL
  • 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

Keywordsi

Biological processWnt signaling pathway

Names & Taxonomyi

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

Organism-specific databases

MGIiMGI:1921275 Nphp3

Subcellular locationi

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, 8 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

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, 3 hits
InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PfamiView protein in Pfam
PF13176 TPR_7, 1 hit
SMARTiView protein in SMART
SM00028 TPR, 8 hits
SUPFAMiSSF48452 SSF48452, 2 hits
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50005 TPR, 8 hits
PS50293 TPR_REGION, 1 hit

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

Similar proteinsi

Entry informationi

Entry nameiNPHP3_MOUSE
AccessioniPrimary (citable) accession number: Q7TNH6
Secondary accession number(s): D6RHB4
, E9Q5X1, E9QN29, Q69Z39, Q8C798, Q8C7Z3, Q9D6D1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: February 22, 2012
Last modified: March 28, 2018
This is version 124 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health