Q7Z494 · NPHP3_HUMAN
- ProteinNephrocystin-3
- GeneNPHP3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1330 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Keywords
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameNephrocystin-3
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ7Z494
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Nephronophthisis 3 (NPHP3)
- Note
- DescriptionAn autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction.
- See alsoMIM:604387
Natural variants in NPHP3
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_022815 | 360 | S>T | in NPHP3; dbSNP:rs119456960 | |
VAR_022816 | 386 | N>S | in NPHP3; dbSNP:rs142021049 | |
VAR_022817 | 397 | R>H | in NPHP3; dbSNP:rs755094682 | |
VAR_022818 | 1141 | L>P | in NPHP3; dbSNP:rs1057521090 | |
VAR_022819 | 1221 | A>V | in NPHP3; dbSNP:rs202048210 | |
VAR_022820 | 1252 | S>R | in NPHP3; dbSNP:rs143451766 | |
VAR_022821 | 1314 | S>T | in NPHP3; likely benign; dbSNP:rs75316802 |
Renal-hepatic-pancreatic dysplasia 1 (RHPD1)
- Note
- DescriptionA disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates.
- See alsoMIM:208540
Natural variants in RHPD1
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_044121 | 973 | R>Q | in RHPD1; dbSNP:rs119456963 |
Meckel syndrome 7 (MKS7)
- Note
- DescriptionA disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
- See alsoMIM:267010
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_022815 | 360 | in NPHP3; dbSNP:rs119456960 | |||
Sequence: S → T | ||||||
Natural variant | VAR_022816 | 386 | in NPHP3; dbSNP:rs142021049 | |||
Sequence: N → S | ||||||
Natural variant | VAR_022817 | 397 | in NPHP3; dbSNP:rs755094682 | |||
Sequence: R → H | ||||||
Natural variant | VAR_044121 | 973 | in RHPD1; dbSNP:rs119456963 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_022818 | 1141 | in NPHP3; dbSNP:rs1057521090 | |||
Sequence: L → P | ||||||
Natural variant | VAR_022819 | 1221 | in NPHP3; dbSNP:rs202048210 | |||
Sequence: A → V | ||||||
Natural variant | VAR_022820 | 1252 | in NPHP3; dbSNP:rs143451766 | |||
Sequence: S → R | ||||||
Natural variant | VAR_044122 | 1305 | in dbSNP:rs35485382 | |||
Sequence: R → C | ||||||
Natural variant | VAR_022821 | 1314 | in NPHP3; likely benign; dbSNP:rs75316802 | |||
Sequence: S → T |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,517 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for initiator methionine, lipidation, chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Initiator methionine | 1 | UniProt | Removed | ||||
Sequence: M | |||||||
Lipidation | 2 | UniProt | N-myristoyl glycine | ||||
Sequence: G | |||||||
Chain | PRO_0000106301 | 2-1330 | UniProt | Nephrocystin-3 | |||
Sequence: GTASSLVSPAGGEVIEDTYGAGGGEACEIPVEVKPKARLLRNSFRRGAGAAAGAGPGSLPRGVGAGGLLGASFKSTGSSVPELEYAAAEYERLRKEYEIFRVSKNQELLSMGRREAKLDTENKRLRAELQALQKTYQKILREKESALEAKYQAMERAATFEHDRDKVKRQFKIFRETKENEIQDLLRAKRELESKLQRLQAQGIQVFDPGESDSDDNCTDVTAAGTQCEYWTGGALGSEPSIGSMIQLQQSFRGPEFAHSSIDVEGPFANVNRDDWDIAVASLLQVTPLFSHSLWSNTVRCYLIYTDETQPEMDLFLKDYSPKLKRMCETMGYFFHAVYFPIDVENQYLTVRKWEIEKSSLVILFIHLTLPSLLLEDCEEAFLKNPEGKPRLIFHRLEDGKVSSDSVQQLIDQVSNLNKTSKAKIIDHSGDPAEGVYKTYICVEKIIKQDILGFENTDLETKDLGSEDSIPEEDDFGDVLWDIHDEQEQMETFQQASNSAHELGFEKYYQRLNDLVAAPAPIPPLLVSGGPGSGKSLLLSKWIQLQQKNSPNTLILSHFVGRPMSTSSESSLIIKRLTLKLMQHSWSVSALTLDPAKLLEEFPRWLEKLSARHQGSIIIVIDSIDQVQQVEKHMKWLIDPLPVNVRVIVSVNVETCPPAWRLWPTLHLDPLSPKDAKSIIIAECHSVDIKLSKEQEKKLERHCRSATTCNALYVTLFGKMIARAGRAGNLDKILHQCFQCQDTLSLYRLVLHSIRESMANDVDKELMKQILCLVNVSHNGVSESELMELYPEMSWTFLTSLIHSLYKMCLLTYGCGLLRFQHLQAWETVRLEYLEGPTVTSSYRQKLINYFTLQLSQDRVTWRSADELPWLFQQQGSKQKLHDCLLNLFVSQNLYKRGHFAELLSYWQFVGKDKSAMATEYFDSLKQYEKNCEGEDNMSCLADLYETLGRFLKDLGLLSQAIVPLQRSLEIRETALDPDHPRVAQSLHQLASVYVQWKKFGNAEQLYKQALEISENAYGADHPYTARELEALATLYQKQNKYEQAEHFRKKSFKIHQKAIKKKGNLYGFALLRRRALQLEELTLGKDTPDNARTLNELGVLYYLQNNLETADQFLKRSLEMRERVLGPDHPDCAQSLNNLAALCNEKKQYDKAEELYERALDIRRRALAPDHPSLAYTVKHLAILYKKMGKLDKAVPLYELAVEIRQKSFGPKHPSVATALVNLAVLYSQMKKHVEALPLYERALKIYEDSLGRMHPRVGETLKNLAVLSYEGGDFEKAAELYKRAMEIKEAETSLLGGKAPSRHSSSGDTFSLKTAHSPNVFLQQGQR | |||||||
Modified residue (large scale data) | 1308 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 1320 | PRIDE | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Gene expression databases
Organism-specific databases
Interaction
Subunit
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q7Z494 | CEP164 Q9UPV0 | 2 | EBI-2804263, EBI-3937015 | |
BINARY | Q7Z494 | RUVBL1 Q9Y265 | 2 | EBI-2804263, EBI-353675 | |
BINARY | Q7Z494 | UNC119 Q13432 | 6 | EBI-2804263, EBI-711260 | |
BINARY | Q7Z494 | UNC119B A6NIH7 | 3 | EBI-2804263, EBI-8045435 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for coiled coil, repeat, region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Coiled coil | 83-207 | |||||
Sequence: ELEYAAAEYERLRKEYEIFRVSKNQELLSMGRREAKLDTENKRLRAELQALQKTYQKILREKESALEAKYQAMERAATFEHDRDKVKRQFKIFRETKENEIQDLLRAKRELESKLQRLQAQGIQV | ||||||
Repeat | 471-504 | TPR 1 | ||||
Sequence: IPEEDDFGDVLWDIHDEQEQMETFQQASNSAHEL | ||||||
Repeat | 885-918 | TPR 2 | ||||
Sequence: CLLNLFVSQNLYKRGHFAELLSYWQFVGKDKSAM | ||||||
Repeat | 920-942 | TPR 3 | ||||
Sequence: TEYFDSLKQYEKNCEGEDNMSCL | ||||||
Repeat | 943-976 | TPR 4 | ||||
Sequence: ADLYETLGRFLKDLGLLSQAIVPLQRSLEIRETA | ||||||
Repeat | 985-1018 | TPR 5 | ||||
Sequence: AQSLHQLASVYVQWKKFGNAEQLYKQALEISENA | ||||||
Repeat | 1027-1060 | TPR 6 | ||||
Sequence: ARELEALATLYQKQNKYEQAEHFRKKSFKIHQKA | ||||||
Repeat | 1093-1126 | TPR 7 | ||||
Sequence: ARTLNELGVLYYLQNNLETADQFLKRSLEMRERV | ||||||
Repeat | 1135-1168 | TPR 8 | ||||
Sequence: AQSLNNLAALCNEKKQYDKAEELYERALDIRRRA | ||||||
Repeat | 1177-1210 | TPR 9 | ||||
Sequence: AYTVKHLAILYKKMGKLDKAVPLYELAVEIRQKS | ||||||
Repeat | 1219-1252 | TPR 10 | ||||
Sequence: ATALVNLAVLYSQMKKHVEALPLYERALKIYEDS | ||||||
Repeat | 1261-1294 | TPR 11 | ||||
Sequence: GETLKNLAVLSYEGGDFEKAAELYKRAMEIKEAE | ||||||
Region | 1296-1330 | Disordered | ||||
Sequence: SLLGGKAPSRHSSSGDTFSLKTAHSPNVFLQQGQR | ||||||
Compositional bias | 1301-1330 | Polar residues | ||||
Sequence: KAPSRHSSSGDTFSLKTAHSPNVFLQQGQR |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 7 isoforms produced by Alternative splicing. Additional isoforms seem to exist.
Q7Z494-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length1,330
- Mass (Da)150,864
- Last updated2003-10-01 v1
- Checksum99C1F17C9A5117F8
Q7Z494-2
- Name2
- Differences from canonical
- 1-720: Missing
- 1330-1330: R → RKVQSNLLSPEGLSNICAQEKTTRFTSS
Q7Z494-3
- Name3
Q7Z494-4
- Name4
Q7Z494-5
- Name5
Q7Z494-6
- Name6
Q7Z494-7
- Name7
Computationally mapped potential isoform sequences
There are 3 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
H0YAM4 | H0YAM4_HUMAN | NPHP3 | 87 | ||
A0A0C4DG93 | A0A0C4DG93_HUMAN | NPHP3 | 123 | ||
F2Z3A8 | F2Z3A8_HUMAN | NPHP3 | 538 |
Sequence caution
Features
Showing features for alternative sequence, sequence conflict, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_014480 | 1-720 | in isoform 2 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_014484 | 132-150 | in isoform 7 | |||
Sequence: ALQKTYQKILREKESALEA → GLAAVARSRLTATWNSWAQ | ||||||
Alternative sequence | VSP_014482 | 132-181 | in isoform 4 | |||
Sequence: ALQKTYQKILREKESALEAKYQAMERAATFEHDRDKVKRQFKIFRETKEN → VTPGWAATPGDPWEARPSCSLSKPSGFESSAETAHFNLRGHILFESEMIP | ||||||
Alternative sequence | VSP_014485 | 151-1330 | in isoform 7 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_014483 | 182-1330 | in isoform 4 | |||
Sequence: Missing | ||||||
Sequence conflict | 223 | in Ref. 4; CAI46202 | ||||
Sequence: T → TT | ||||||
Alternative sequence | VSP_014486 | 224-239 | in isoform 5 | |||
Sequence: AAGTQCEYWTGGALGS → VSLESDQHPGIFIANF | ||||||
Alternative sequence | VSP_014487 | 240-1330 | in isoform 5 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_014488 | 630-636 | in isoform 3 | |||
Sequence: QVEKHMK → VVAYTSS | ||||||
Alternative sequence | VSP_014489 | 637-1330 | in isoform 3 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_014490 | 697-704 | in isoform 6 | |||
Sequence: EKKLERHC → CWESRQFR | ||||||
Alternative sequence | VSP_014491 | 705-1330 | in isoform 6 | |||
Sequence: Missing | ||||||
Compositional bias | 1301-1330 | Polar residues | ||||
Sequence: KAPSRHSSSGDTFSLKTAHSPNVFLQQGQR | ||||||
Alternative sequence | VSP_014481 | 1330 | in isoform 2 | |||
Sequence: R → RKVQSNLLSPEGLSNICAQEKTTRFTSS |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AY257864 EMBL· GenBank· DDBJ | AAP83423.1 EMBL· GenBank· DDBJ | mRNA | ||
AY257865 EMBL· GenBank· DDBJ | AAP83424.1 EMBL· GenBank· DDBJ | mRNA | ||
AY257866 EMBL· GenBank· DDBJ | AAP83425.1 EMBL· GenBank· DDBJ | mRNA | ||
AB082531 EMBL· GenBank· DDBJ | BAC02709.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AK055253 EMBL· GenBank· DDBJ | BAB70891.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AK055893 EMBL· GenBank· DDBJ | BAB71038.1 EMBL· GenBank· DDBJ | mRNA | ||
AK094015 EMBL· GenBank· DDBJ | BAC04268.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AL832863 EMBL· GenBank· DDBJ | CAI46200.2 EMBL· GenBank· DDBJ | mRNA | ||
AL832877 EMBL· GenBank· DDBJ | CAI46202.1 EMBL· GenBank· DDBJ | Transcribed RNA | ||
CR749498 EMBL· GenBank· DDBJ | CAH18321.1 EMBL· GenBank· DDBJ | mRNA | ||
BC068082 EMBL· GenBank· DDBJ | AAH68082.1 EMBL· GenBank· DDBJ | mRNA |