CPLM 1.0 - Compendium of Protein Lysine Modification
TagContent
CPLM ID CPLM-000416
UniProt Accession
Genbank Protein ID
Genbank Nucleotide ID
Protein Name
 Nephrocystin-1 
Protein Synonyms/Alias
 Juvenile nephronophthisis 1 protein 
Gene Name
 NPHP1 
Gene Synonyms/Alias
 NPH1 
Created Date
 July 27, 2013 
Organism
 Homo sapiens (Human) 
NCBI Taxa ID
 9606 
Lysine Modification
Position
Peptide
Type
References
520NGGTPYEKGIEVDPSubiquitination[1]
633LRSSWAGKESTLKRSubiquitination[1]
Reference
 [1] Systematic and quantitative assessment of the ubiquitin-modified proteome.
 Kim W, Bennett EJ, Huttlin EL, Guo A, Li J, Possemato A, Sowa ME, Rad R, Rush J, Comb MJ, Harper JW, Gygi SP.
 Mol Cell. 2011 Oct 21;44(2):325-40. [PMID: 21906983] 
Functional Description
 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). 
Sequence Annotation
 DOMAIN 152 212 SH3.
 MOD_RES 46 46 Phosphotyrosine; by FAK2.
 MOD_RES 121 121 Phosphoserine; by CK2 (Probable).
 MOD_RES 123 123 Phosphoserine; by CK2 (Probable).
 MOD_RES 126 126 Phosphoserine; by CK2 (Probable).
 MOD_RES 349 349 Phosphotyrosine; by FAK2.
 MOD_RES 721 721 Phosphotyrosine; by SRC.  
Keyword
 3D-structure; Alternative splicing; Cell junction; Cell projection; Ciliopathy; Cilium; Cilium biogenesis/degradation; Coiled coil; Complete proteome; Cytoplasm; Cytoskeleton; Differentiation; Disease mutation; Joubert syndrome; Nephronophthisis; Phosphoprotein; Reference proteome; Senior-Loken syndrome; SH3 domain; Spermatogenesis; Tight junction. 
Sequence Source
 UniProt (SWISSPROT/TrEMBL); GenBank; EMBL 
Protein Length
 732 AA 
Protein Sequence
MLARRQRDPL QALRRRNQEL KQQVDSLLSE SQLKEALEPN KRQHIYQRCI QLKQAIDENK 60
NALQKLSKAD ESAPVANYNQ RKEEEHTLLD KLTQQLQGLA VTISRENITE VGAPTEEEEE 120
SESEDSEDSG GEEEDAEEEE EEKEENESHK WSTGEEYIAV GDFTAQQVGD LTFKKGEILL 180
VIEKKPDGWW IAKDAKGNEG LVPRTYLEPY SEEEEGQESS EEGSEEDVEA VDETADGAEV 240
KQRTDPHWSA VQKAISEAGI FCLVNHVSFC YLIVLMRNRM ETVEDTNGSE TGFRAWNVQS 300
RGRIFLVSKP VLQINTVDVL TTMGAIPAGF RPSTLSQLLE EGNQFRANYF LQPELMPSQL 360
AFRDLMWDAT EGTIRSRPSR ISLILTLWSC KMIPLPGMSI QVLSRHVRLC LFDGNKVLSN 420
IHTVRATWQP KKPKTWTFSP QVTRILPCLL DGDCFIRSNS ASPDLGILFE LGISYIRNST 480
GERGELSCGW VFLKLFDASG VPIPAKTYEL FLNGGTPYEK GIEVDPSISR RAHGSVFYQI 540
MTMRRQPQLL VKLRSLNRRS RNVLSLLPET LIGNMCSIHL LIFYRQILGD VLLKDRMSLQ 600
STDLISHPML ATFPMLLEQP DVMDALRSSW AGKESTLKRS EKRDKEFLKS TFLLVYHDCV 660
LPLLHSTRLP PFRWAEEETE TARWKVITDF LKQNQENQGA LQALLSPDGV HEPFDLSEQT 720
YDFLGEMRKN AV 732 
Gene Ontology
 GO:0005912; C:adherens junction; IEA:UniProtKB-SubCell.
 GO:0005911; C:cell-cell junction; IDA:UniProtKB.
 GO:0035085; C:cilium axoneme; IEA:UniProtKB-SubCell.
 GO:0005856; C:cytoskeleton; IEA:UniProtKB-KW.
 GO:0016020; C:membrane; NAS:UniProtKB.
 GO:0031514; C:motile cilium; IDA:UniProtKB.
 GO:0032391; C:photoreceptor connecting cilium; ISS:UniProtKB.
 GO:0005923; C:tight junction; IEA:UniProtKB-SubCell.
 GO:0005198; F:structural molecule activity; NAS:UniProtKB.
 GO:0030036; P:actin cytoskeleton organization; NAS:UniProtKB.
 GO:0030030; P:cell projection organization; ISS:UniProtKB.
 GO:0016337; P:cell-cell adhesion; NAS:UniProtKB.
 GO:0034613; P:cellular protein localization; IEA:Compara.
 GO:0007588; P:excretion; TAS:ProtInc.
 GO:0035845; P:photoreceptor cell outer segment organization; IEA:Compara.
 GO:0060041; P:retina development in camera-type eye; ISS:UniProtKB.
 GO:0007165; P:signal transduction; NAS:UniProtKB.
 GO:0048515; P:spermatid differentiation; ISS:UniProtKB.
 GO:0007632; P:visual behavior; NAS:UniProtKB. 
Interpro
 IPR001452; SH3_domain. 
Pfam
 PF00018; SH3_1 
SMART
 SM00326; SH3 
PROSITE
 PS50002; SH3 
PRINTS