Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Nephrocystin-1

Gene

Nphp1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -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. Does not seem to be strictly required for ciliogenesis. 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; required for the differentiation of early elongating spermatids into spermatozoa.3 Publications

GO - Biological processi

  • cell projection organization Source: UniProtKB
  • cellular protein localization Source: UniProtKB
  • photoreceptor cell outer segment organization Source: UniProtKB
  • positive regulation of bicellular tight junction assembly Source: MGI
  • retina development in camera-type eye Source: UniProtKB
  • spermatid differentiation Source: UniProtKB

Keywordsi

Biological processCilium biogenesis/degradation, Differentiation, Spermatogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Nephrocystin-1
Gene namesi
Name:Nphp1
Synonyms:Nph1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Unplaced

Organism-specific databases

MGIiMGI:1858233 Nphp1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

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

Pathology & Biotechi

Disruption phenotypei

Mice are viable without renal manifestations of nephronophthisis. Male mice are infertile with oligoteratozoospermia. Spermatogenesis is blocked at the early stages of spermatid elongation, with degenerating spermatids sloughing off into the lumen. Early elongating spermatids are detached from Sertoli cells and show a failure of sperm head and tail morphogenesis and an abnormal F-actin distribution. Severe retinal degradation with mislocalized rhodopsin, disorganized outer segments, restricted expression of transducin to the inner segment and abnormal intraflagellar transport (IFT) of IFT57.2 Publications

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001595861 – 687Nephrocystin-1Add BLAST687

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei46Phosphotyrosine; by FAK2By similarity1
Modified residuei304Phosphotyrosine; by FAK2By similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9QY53
PaxDbiQ9QY53
PRIDEiQ9QY53

PTM databases

iPTMnetiQ9QY53
PhosphoSitePlusiQ9QY53

Expressioni

Tissue specificityi

Widespread expression, with highest levels in testis, in cell stages of the first meiotic division and thereafter. Weaker expression in skeletal muscle, kidney, thyroid, ovary, lung, prostate, thymus, uterus, heart and liver. Lowest levels in brain and spleen.

Developmental stagei

Widespread and uniform expression in whole embryo at all development stages.

Gene expression databases

CleanExiMM_NPHP1

Interactioni

Subunit structurei

Interacts with INVS and NPHP3 (By similarity). Interacts with Crk-associated substrate BCAR1, NPHP4, PTK2B/PYK2 and tensin. Interacts with AHI1 and TNK2 (By similarity). Interacts with NPHP4 in a complex containing NPHP1, NPHP4 and RPGRIP1L/NPHP8 (By similarity). Interacts with IQCB1; the interaction likely requires additional interactors (By similarity). Interacts (via SH3 domain) with PKD1. Interacts with KIF7 (By similarity). Interacts with ANKS3 (PubMed:25671767).By similarity1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi207511, 56 interactors
CORUMiQ9QY53
IntActiQ9QY53, 43 interactors
STRINGi10090.ENSMUSP00000028857

Structurei

3D structure databases

ProteinModelPortaliQ9QY53
SMRiQ9QY53
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini155 – 215SH3PROSITE-ProRule annotationAdd BLAST61

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili10 – 30Sequence analysisAdd BLAST21
Coiled coili40 – 106Sequence analysisAdd BLAST67

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi116 – 145Glu-richAdd BLAST30
Compositional biasi215 – 236Glu-richAdd BLAST22

Domaini

The SH3 domain mediates the stable interaction with Cas and is involved in establishing tight junctions in epithelial cells.1 Publication

Sequence similaritiesi

Belongs to the nephrocystin-1 family.Curated

Keywords - Domaini

Coiled coil, SH3 domain

Phylogenomic databases

eggNOGiENOG410IE0Z Eukaryota
ENOG410XPXZ LUCA
HOVERGENiHBG019088
InParanoidiQ9QY53
KOiK19657

Family and domain databases

CDDicd11770 SH3_Nephrocystin, 1 hit
InterProiView protein in InterPro
IPR039687 NPHP1
IPR030642 NPHP1_SH3
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PANTHERiPTHR15176 PTHR15176, 1 hit
PfamiView protein in Pfam
PF00018 SH3_1, 1 hit
PRINTSiPR00452 SH3DOMAIN
SMARTiView protein in SMART
SM00326 SH3, 1 hit
SUPFAMiSSF50044 SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS50002 SH3, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q9QY53-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLARRPRDPL QALRRRGQEL KLQVDSLVTE SQLTGALEPS KRREIYQRCI
60 70 80 90 100
QLKQAVDENK NTLQKLNKAD EAAPVGNYEQ RKEEEHSLLE KLACQLQELA
110 120 130 140 150
VSISRKDALK VEAHSDKEED DTTEDDEEET GGEEEESEGD GEGKQEQASP
160 170 180 190 200
KQAETETVTY IALGDFAAQQ TGDLTFKKGD VLHIIEKKPD GWWLAKDAEG
210 220 230 240 250
VEGLIPRTYL EPYNKEDKLE SSEGSEEGGE EDGEEDVEVV DETADGAQVK
260 270 280 290 300
QRTDSHWSAV RKAISEQINT VDVLATMGAI PAGFRPSTLS QLLDEAGNQF
310 320 330 340 350
RASYFLQPEL TTSQLAFRDL TWDAKAGTIM SRPSRVSLIL TLWSCKMIPL
360 370 380 390 400
PGTSIQVLSR HIRLCLFDGS KVLSNIHTVR AVWQPKKPKT WTFSPQVTGI
410 420 430 440 450
LPCLLDGDCF IRSNSSTPDL GILFELGISY IRNSTGERGE LSCGWVFLKL
460 470 480 490 500
FDASGVPIPA KTYELFLNGG TPYEKGVEVD PSVSRRAQGS VFRQMISVRR
510 520 530 540 550
QPQLLVKLRS LNRRSRAMLS LLPETLVGSM CSAHLLIFYR QILGDVLLRD
560 570 580 590 600
RTNLQSADLI SHPVLATFPL LLEQPDVMDA LRSSWSEKES TLKRAEKRDK
610 620 630 640 650
ELLKAEFLLV YHDCVLPLLH STLLPPFRWA EEETEAARWK AIADFLKQSR
660 670 680
ENEGSLKALL SPDGVHKPFD LSEQTFDFLG EIRKNSG
Length:687
Mass (Da):77,035
Last modified:May 1, 2000 - v1
Checksum:iFAA10B044F5CE678
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A2APS1A2APS1_MOUSE
Nephrocystin-1
Nphp1
691Annotation score:
Q3TWM5Q3TWM5_MOUSE
Nephrocystin-1
Nphp1
690Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti46Y → C in CAB45687 (Ref. 3) Curated1
Sequence conflicti90E → G in CAB45687 (Ref. 3) Curated1
Sequence conflicti210L → W in CAB45687 (Ref. 3) Curated1
Sequence conflicti236D → DGEED (PubMed:10739664).Curated1
Sequence conflicti296Missing in CAB45687 (Ref. 3) Curated1
Sequence conflicti360R → K in CAB45687 (Ref. 3) Curated1
Sequence conflicti477V → A in CAB45687 (Ref. 3) Curated1
Sequence conflicti549R → K in CAB45687 (Ref. 3) Curated1
Sequence conflicti569 – 582PLLLE…MDALR → MNGALCCPLSLQEK (PubMed:16141072).CuratedAdd BLAST14

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF127180 mRNA Translation: AAF22134.1
AF176210 mRNA Translation: AAD54311.1
AJ243223 mRNA Translation: CAB45687.1
AK009252 mRNA No translation available.
RefSeqiNP_058598.1, NM_016902.4
UniGeneiMm.210766

Genome annotation databases

GeneIDi53885
KEGGimmu:53885

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF127180 mRNA Translation: AAF22134.1
AF176210 mRNA Translation: AAD54311.1
AJ243223 mRNA Translation: CAB45687.1
AK009252 mRNA No translation available.
RefSeqiNP_058598.1, NM_016902.4
UniGeneiMm.210766

3D structure databases

ProteinModelPortaliQ9QY53
SMRiQ9QY53
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi207511, 56 interactors
CORUMiQ9QY53
IntActiQ9QY53, 43 interactors
STRINGi10090.ENSMUSP00000028857

PTM databases

iPTMnetiQ9QY53
PhosphoSitePlusiQ9QY53

Proteomic databases

MaxQBiQ9QY53
PaxDbiQ9QY53
PRIDEiQ9QY53

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi53885
KEGGimmu:53885

Organism-specific databases

CTDi4867
MGIiMGI:1858233 Nphp1

Phylogenomic databases

eggNOGiENOG410IE0Z Eukaryota
ENOG410XPXZ LUCA
HOVERGENiHBG019088
InParanoidiQ9QY53
KOiK19657

Miscellaneous databases

PROiPR:Q9QY53
SOURCEiSearch...

Gene expression databases

CleanExiMM_NPHP1

Family and domain databases

CDDicd11770 SH3_Nephrocystin, 1 hit
InterProiView protein in InterPro
IPR039687 NPHP1
IPR030642 NPHP1_SH3
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PANTHERiPTHR15176 PTHR15176, 1 hit
PfamiView protein in Pfam
PF00018 SH3_1, 1 hit
PRINTSiPR00452 SH3DOMAIN
SMARTiView protein in SMART
SM00326 SH3, 1 hit
SUPFAMiSSF50044 SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS50002 SH3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNPHP1_MOUSE
AccessioniPrimary (citable) accession number: Q9QY53
Secondary accession number(s): Q9D7G8, Q9QZP0, Q9WUZ2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: May 1, 2000
Last modified: November 7, 2018
This is version 132 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again