Gene name: NPHP1

Uniprot entry:

O15259

Protein names:

Nephrocystin-1 (Juvenile nephronophthisis 1 protein)

Protein sequence:

1_MLARR 6_ QRDPL 11_ QALRR 16_ RNQEL 21_ KQQVD 26_ SLLSE 31_ SQLKE 36_ ALEPN 41_ KRQHI 46_ YQRCI 51_ QLKQA 56_ IDENK 61_ NALQK 66_ LSKAD 71_ ESAPV 76_ ANYNQ 81_ RKEEE 86_ HTLLD 91_ KLTQQ 96_ LQGLA 101_ VTISR 106_ ENITE 111_ VGAPT 116_ EEEEE 121_ SESED 126_ SEDSG 131_ GEEED 136_ AEEEE 141_ EEKEE 146_ NESHK 151_ WSTGE 156_ EYIAV 161_ GDFTA 166_ QQVGD 171_ LTFKK 176_ GEILL 181_ VIEKK 186_ PDGWW 191_ IAKDA 196_ KGNEG 201_ LVPRT 206_ YLEPY 211_ SEEEE 216_ GQESS 221_ EEGSE 226_ EDVEA 231_ VDETA 236_ DGAEV 241_ KQRTD 246_ PHWSA 251_ VQKAI 256_ SEAGI 261_ FCLVN 266_ HVSFC 271_ YLIVL 276_ MRNRM 281_ ETVED 286_ TNGSE 291_ TGFRA 296_ WNVQS 301_ RGRIF 306_ LVSKP 311_ VLQIN 316_ TVDVL 321_ TTMGA 326_ IPAGF 331_ RPSTL 336_ SQLLE 341_ EGNQF 346_ RANYF 351_ LQPEL 356_ MPSQL 361_ AFRDL 366_ MWDAT 371_ EGTIR 376_ SRPSR 381_ ISLIL 386_ TLWSC 391_ KMIPL 396_ PGMSI 401_ QVLSR 406_ HVRLC 411_ LFDGN 416_ KVLSN 421_ IHTVR 426_ ATWQP 431_ KKPKT 436_ WTFSP 441_ QVTRI 446_ LPCLL 451_ DGDCF 456_ IRSNS 461_ ASPDL 466_ GILFE 471_ LGISY 476_ IRNST 481_ GERGE 486_ LSCGW 491_ VFLKL 496_ FDASG 501_ VPIPA 506_ KTYEL 511_ FLNGG 516_ TPYEK 521_ GIEVD 526_ PSISR 531_ RAHGS 536_ VFYQI 541_ MTMRR 546_ QPQLL 551_ VKLRS 556_ LNRRS 561_ RNVLS 566_ LLPET 571_ LIGNM 576_ CSIHL 581_ LIFYR 586_ QILGD 591_ VLLKD 596_ RMSLQ 601_ STDLI 606_ SHPML 611_ ATFPM 616_ LLEQP 621_ DVMDA 626_ LRSSW 631_ AGKES 636_ TLKRS 641_ EKRDK 646_ EFLKS 651_ TFLLV 656_ YHDCV 661_ LPLLH 666_ STRLP 671_ PFRWA 676_ EEETE 681_ TARWK 686_ VITDF 691_ LKQNQ 696_ ENQGA 701_ LQALL 706_ SPDGV 711_ HEPFD 716_ LSEQT 721_ YDFLG 726_EMRKN

Protein annotations

Protein functions:

1: Together with BCAR1 it may play a role in the control of epithelial cell polarity (By similarity). 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 (By similarity). May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly. Required for normal retina development (By similarity). In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19. Involved in spermatogenesis (By similarity)