NPHP1
entrez
4867
canonical
uniprot
O15259
canonical
ensembl
ENSG00000144061
resolver
ensp
ENSP00000313169
resolver
ensp
ENSP00000347452
resolver
ensp
ENSP00000376953
resolver
ensp
ENSP00000389879
resolver
ensp
ENSP00000402176
resolver
ensp
ENSP00000536231
resolver
ensp
ENSP00000672209
resolver
ensp
ENSP00000672210
resolver
enst
ENST00000417665
resolver
genesymbol
NPHP1
resolver
genesymbol_syn
NPH1
resolver
hgnc
HGNC:7905
resolver
uniprot
B4DQY0
resolver
uniprot
C9JNM7
resolver
uniprot
O14837
resolver
uniprot_entry
B4DQY0_HUMAN
resolver
uniprot_entry
C9JNM7_HUMAN
resolver
uniprot_entry
NPHP1_HUMAN
resolver
uniprot_sec
O14837
resolver
amino_acid_sequence
MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEVGAPTEEEEESESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPYSEEEEGQESSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRNRMETVEDTNGSETGFRAWNVQSRGRIFLVSKPVLQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV
uniprot
proteins
disease_involvement
DISEASE: Nephronophthisis 1 (NPHP1) [MIM:256100]: An autosomal recessive inherited disease characterized by anemia, polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical destruction of the kidneys involving both tubules and glomeruli occurs. The underlying pathology is a chronic tubulo-interstitial nephropathy with characteristic tubular basement membrane thickening and medullary cyst formation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. The age at death ranges from about 4 to 15 years. {ECO:0000269|PubMed:10839884}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Senior-Loken syndrome 1 (SLSN1) [MIM:266900]: A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. {ECO:0000269|PubMed:9856524}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Joubert syndrome 4 (JBTS4) [MIM:609583]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 4 is a phenotypically mild form. {ECO:0000269|PubMed:15138899, ECO:0000269|PubMed:26477546}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:Q9QY53}.
uniprot
proteins
mass_dalton
83299
uniprot
proteins
mutagenesis
MUTAGEN 121; /note="S->A: Impairs interaction with PACS1; when associated with A-123 and A-126."; /evidence="ECO:0000269|PubMed:16308564"; MUTAGEN 123; /note="S->A: Impairs interaction with PACS1; when associated with A-121 and A-126."; /evidence="ECO:0000269|PubMed:16308564"; MUTAGEN 126; /note="S->A: Impairs interaction with PACS1; when associated with A-121 and A-123."; /evidence="ECO:0000269|PubMed:16308564"; MUTAGEN 180; /note="L->P: Loss of SH3 domain fold."; /evidence="ECO:0000269|PubMed:15723349"; MUTAGEN 203; /note="P->L: Does not affect fold stability, as assessed by circular dichroism thermal denaturation melting curves and by NMR spectroscopy. Affects interaction with PKD1."; /evidence="ECO:0000269|PubMed:20856870
uniprot
proteins
post_translational_modification
PTM: Phosphorylation by CK2 is required for the interaction with PACS1 and the targeting to the base region of cilia. {ECO:0000269|PubMed:16308564, ECO:0000269|PubMed:21357692}.
uniprot
proteins
protein_family
Nephrocystin-1 family
uniprot
proteins
pubmed
10839884
uniprot
proteins
pubmed
12244321
uniprot
proteins
pubmed
12872122
uniprot
proteins
pubmed
12872123
uniprot
proteins
pubmed
15138899
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15723349
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16308564
uniprot
proteins
pubmed
16885411
uniprot
proteins
pubmed
18477472
uniprot
proteins
pubmed
18633336
uniprot
proteins
pubmed
20856870
uniprot
proteins
pubmed
21357692
uniprot
proteins
pubmed
21565611
uniprot
proteins
pubmed
21633164
uniprot
proteins
pubmed
24746959
uniprot
proteins
pubmed
26477546
uniprot
proteins
pubmed
9326933
uniprot
proteins
pubmed
9361039
uniprot
proteins
pubmed
9856524
uniprot
proteins
sequence_length
732
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell junction {ECO:0000250|UniProtKB:Q9QY53}. Cell junction, adherens junction {ECO:0000250|UniProtKB:Q9QY53}. Cell projection, cilium {ECO:0000269|PubMed:16885411}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:16308564, ECO:0000269|PubMed:16885411}. Cell junction, tight junction. Note=In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). Colocalizes with E-cadherin and BCAR1 at or near the cell-cell adherens junctions (By similarity). Localized to respiratory cilia axoneme (PubMed:16308564, PubMed:16885411). Localized to the transition zone of respiratory cilia (PubMed:16885411). Localized to the transition zone of photoreceptor-connecting cilia and renal monocilia (By similarity). In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates at basolateral tight junctions (By similarity). {ECO:0000250|UniProtKB:Q9QY53, ECO:0000269|PubMed:16308564, ECO:0000269|PubMed:16885411}.
uniprot
proteins