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NPHP1

Gene
NPHP1
Protein
Nephrocystin-1
Organism
Homo sapiens
Length
732 amino acids
Function
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).
Similarity
Belongs to the nephrocystin-1 family.
Mass
83.299 kDa
Sequence
MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEVGAPTEEEEESESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPYSEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRNRMETVEDTNGSETGFRAWNVQSRGRIFLVSKPVLQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV

Gene
Nphp1
Protein
Nephrocystin-1
Organism
Mus musculus
Length
687 amino acids
Function
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 (PubMed:21565611). Does not seem to be strictly required for ciliogenesis (PubMed:19208653). Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling (PubMed:11493697). May play a role in the regulation of intraflagellar transport (IFT) during cilia assembly (PubMed:19208653). Required for normal retina development (PubMed:19208653). In connecting photoreceptor cilia influences the movement of some IFT proteins such as IFT88 and WDR19 (PubMed:19208653). Involved in spermatogenesis; required for the differentiation of early elongating spermatids into spermatozoa (PubMed:18684731).
Similarity
Belongs to the nephrocystin-1 family.
Mass
77.035 kDa
Sequence
MLARRPRDPLQALRRRGQELKLQVDSLVTESQLTGALEPSKRREIYQRCIQLKQAVDENKNTLQKLNKADEAAPVGNYEQRKEEEHSLLEKLACQLQELAVSISRKDALKVEAHSDKEEDDTTEDDEEETGGEEEESEGDGEGKQEQASPKQAETETVTYIALGDFAAQQTGDLTFKKGDVLHIIEKKPDGWWLAKDAEGVEGLIPRTYLEPYNKEDKLESSEGSEEGGEEDGEEDVEVVDETADGAQVKQRTDSHWSAVRKAISEQINTVDVLATMGAIPAGFRPSTLSQLLDEAGNQFRASYFLQPELTTSQLAFRDLTWDAKAGTIMSRPSRVSLILTLWSCKMIPLPGTSIQVLSRHIRLCLFDGSKVLSNIHTVRAVWQPKKPKTWTFSPQVTGILPCLLDGDCFIRSNSSTPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGVEVDPSVSRRAQGSVFRQMISVRRQPQLLVKLRSLNRRSRAMLSLLPETLVGSMCSAHLLIFYRQILGDVLLRDRTNLQSADLISHPVLATFPLLLEQPDVMDALRSSWSEKESTLKRAEKRDKELLKAEFLLVYHDCVLPLLHSTLLPPFRWAEEETEAARWKAIADFLKQSRENEGSLKALLSPDGVHKPFDLSEQTFDFLGEIRKNSG

Gene
NPHP1
Protein
Nephrocystin-1
Organism
Canis lupus familiaris
Length
565 amino acids
Function
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 (By similarity). 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).
Similarity
Belongs to the nephrocystin-1 family.
Mass
63.961 kDa
Fragment
single
Sequence
GEEEDEEEEEEEESEEGGGEEEESEEEEEEKQENESHHQATSKEYIAVGDFTAQQAGDLTFKKREILLIIEKKPDGWWIAKNAKGNKGLIPRTYVEPYNKEEGQDTSEEEDSEEDVEVGDQTAGGEEVKQRTDSHWSAVQKAISEQINTVDVLTTMGAIPAGFRPSTLFQLLEEGNQFRASYFLQPELTPSQLAFRDLMWDAKTGTIRSRPSRVSFILTLWSCKMIPLPGTSIQVLSRHVRLCIFDGNKVLSNIHTVRATWQSKKPKTWTFSPQVTGILPCLLDGDCFIRSNSSSPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGIPIPAKTYELFLNGGTPYEKGVEVDPSVSRRAYGSVFHQMMTMRRQPQLLVKLRSLNRRSRDLLSLLPETLIGSMCTIHLLIFYRQILGDVLLKDRTSMQSADLISNPVLATFPKLLEQPDMMDALRSSWAEKESTLKRSEKRDKEFLKAMFLLVYHDCVVPLLHSTLLPPFRWAEEETEAARWKVIADFLKQNQENGGALQALLSPDGVHEPFDISEQTYDLLGEIRKNVA