Q9QY53 · NPHP1_MOUSE
- ProteinNephrocystin-1
- GeneNphp1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids687 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
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).
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).
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 | |||
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Aspect | Term | |
---|---|---|
Cellular Component | adherens junction | |
Cellular Component | bicellular tight junction | |
Cellular Component | cell-cell junction | |
Cellular Component | ciliary base | |
Cellular Component | ciliary transition zone | |
Cellular Component | cilium | |
Cellular Component | cytoplasm | |
Cellular Component | cytoskeleton | |
Cellular Component | motile cilium | |
Cellular Component | photoreceptor connecting cilium | |
Cellular Component | photoreceptor distal connecting cilium | |
Biological Process | cell projection organization | |
Biological Process | photoreceptor cell outer segment organization | |
Biological Process | protein localization | |
Biological Process | protein localization involved in establishment of planar polarity | |
Biological Process | retina development in camera-type eye | |
Biological Process | spermatid differentiation |
Keywords
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameNephrocystin-1
Gene names
Organism names
- Organism
- Strain
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Glires > Rodentia > Myomorpha > Muroidea > Muridae > Murinae > Mus > Mus
Accessions
- Primary accessionQ9QY53
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: In the retinal photoreceptor cell layer, localizes at the connecting cilium (PubMed:19208653, PubMed:29899041).
Colocalizes with E-cadherin and BCAR1 at or near the cell-cell adherens junctions (PubMed:10739664).
Localizes to respiratory cilia axoneme (PubMed:16885411).
Localized to the transition zone of respiratory cilia (PubMed:16885411).
Localized to the transition zone of photoreceptor-connecting cilia and renal monocilia (PubMed:16885411).
In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates at basolateral tight junctions (PubMed:21565611).
Colocalizes with E-cadherin and BCAR1 at or near the cell-cell adherens junctions (PubMed:10739664).
Localizes to respiratory cilia axoneme (PubMed:16885411).
Localized to the transition zone of respiratory cilia (PubMed:16885411).
Localized to the transition zone of photoreceptor-connecting cilia and renal monocilia (PubMed:16885411).
In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates at basolateral tight junctions (PubMed:21565611).
Keywords
- Cellular component
Phenotypes & Variants
Disruption phenotype
Mice are viable without renal manifestations of nephronophthisis (PubMed:18684731).
Male mice are infertile with oligoteratozoospermia (PubMed:18684731).
Spermatogenesis is blocked at the early stages of spermatid elongation, with degenerating spermatids sloughing off into the lumen (PubMed:18684731).
Early elongating spermatids are detached from Sertoli cells and show a failure of sperm head and tail morphogenesis and an abnormal F-actin distribution (PubMed:18684731).
Severe retinal degradation with mislocalized rhodopsin, disorganized outer segments, restricted expression of transducin to the inner segment and abnormal intraflagellar transport (IFT) of IFT57 (PubMed:19208653).
Male mice are infertile with oligoteratozoospermia (PubMed:18684731).
Spermatogenesis is blocked at the early stages of spermatid elongation, with degenerating spermatids sloughing off into the lumen (PubMed:18684731).
Early elongating spermatids are detached from Sertoli cells and show a failure of sperm head and tail morphogenesis and an abnormal F-actin distribution (PubMed:18684731).
Severe retinal degradation with mislocalized rhodopsin, disorganized outer segments, restricted expression of transducin to the inner segment and abnormal intraflagellar transport (IFT) of IFT57 (PubMed:19208653).
PTM/Processing
Features
Showing features for chain, modified residue.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000159586 | 1-687 | Nephrocystin-1 | |||
Sequence: MLARRPRDPLQALRRRGQELKLQVDSLVTESQLTGALEPSKRREIYQRCIQLKQAVDENKNTLQKLNKADEAAPVGNYEQRKEEEHSLLEKLACQLQELAVSISRKDALKVEAHSDKEEDDTTEDDEEETGGEEEESEGDGEGKQEQASPKQAETETVTYIALGDFAAQQTGDLTFKKGDVLHIIEKKPDGWWLAKDAEGVEGLIPRTYLEPYNKEDKLESSEGSEEGGEEDGEEDVEVVDETADGAQVKQRTDSHWSAVRKAISEQINTVDVLATMGAIPAGFRPSTLSQLLDEAGNQFRASYFLQPELTTSQLAFRDLTWDAKAGTIMSRPSRVSLILTLWSCKMIPLPGTSIQVLSRHIRLCLFDGSKVLSNIHTVRAVWQPKKPKTWTFSPQVTGILPCLLDGDCFIRSNSSTPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGVEVDPSVSRRAQGSVFRQMISVRRQPQLLVKLRSLNRRSRAMLSLLPETLVGSMCSAHLLIFYRQILGDVLLRDRTNLQSADLISHPVLATFPLLLEQPDVMDALRSSWSEKESTLKRAEKRDKELLKAEFLLVYHDCVLPLLHSTLLPPFRWAEEETEAARWKAIADFLKQSRENEGSLKALLSPDGVHKPFDLSEQTFDFLGEIRKNSG | ||||||
Modified residue | 46 | Phosphotyrosine; by FAK2 | ||||
Sequence: Y | ||||||
Modified residue | 304 | Phosphotyrosine; by FAK2 | ||||
Sequence: Y |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Expressed in the retina (at protein level) (PubMed:16885411, PubMed:19208653, PubMed:29899041).
Expressed in the testis (at protein level) (PubMed:10665934).
Widespread expression, with weak expression in skeletal muscle, kidney, thyroid, ovary, lung, prostate, thymus, uterus, heart, and liver (PubMed:10665934).
Lowest levels in brain and spleen (PubMed:10665934).
Expressed in the testis (at protein level) (PubMed:10665934).
Widespread expression, with weak expression in skeletal muscle, kidney, thyroid, ovary, lung, prostate, thymus, uterus, heart, and liver (PubMed:10665934).
Lowest levels in brain and spleen (PubMed:10665934).
Developmental stage
Interaction
Subunit
Interacts with INVS and NPHP3 (By similarity).
Interacts with Crk-associated substrate BCAR1 (PubMed:10739664, PubMed:11493697).
Interacts with NPHP4 (By similarity).
Interacts with PTK2B/PYK2 and tensin (PubMed:11493697).
Interacts with AHI1 and TNK2 (By similarity).
Interacts with NPHP4 in a complex containing NPHP1, NPHP4 and RPGRIP1L/NPHP8 (By similarity).
Interacts with IQCB1; the interaction likely requires additional interactors (By similarity).
Interacts (via SH3 domain) with PKD1 (PubMed:20856870).
Interacts with KIF7 (By similarity).
Interacts with ANKS3 (PubMed:25671767).
Interacts with SPATA7 (PubMed:29899041).
Interacts with FLNA (PubMed:12006559).
Interacts with Crk-associated substrate BCAR1 (PubMed:10739664, PubMed:11493697).
Interacts with NPHP4 (By similarity).
Interacts with PTK2B/PYK2 and tensin (PubMed:11493697).
Interacts with AHI1 and TNK2 (By similarity).
Interacts with NPHP4 in a complex containing NPHP1, NPHP4 and RPGRIP1L/NPHP8 (By similarity).
Interacts with IQCB1; the interaction likely requires additional interactors (By similarity).
Interacts (via SH3 domain) with PKD1 (PubMed:20856870).
Interacts with KIF7 (By similarity).
Interacts with ANKS3 (PubMed:25671767).
Interacts with SPATA7 (PubMed:29899041).
Interacts with FLNA (PubMed:12006559).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9QY53 | Bcar1 Q61140 | 2 | EBI-77230, EBI-77088 | |
BINARY | Q9QY53 | Nphp4 P59240 | 8 | EBI-77230, EBI-4281265 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for coiled coil, region, compositional bias, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Coiled coil | 10-30 | |||||
Sequence: LQALRRRGQELKLQVDSLVTE | ||||||
Coiled coil | 40-106 | |||||
Sequence: SKRREIYQRCIQLKQAVDENKNTLQKLNKADEAAPVGNYEQRKEEEHSLLEKLACQLQELAVSISRK | ||||||
Region | 111-154 | Disordered | ||||
Sequence: VEAHSDKEEDDTTEDDEEETGGEEEESEGDGEGKQEQASPKQAE | ||||||
Compositional bias | 118-141 | Acidic residues | ||||
Sequence: EEDDTTEDDEEETGGEEEESEGDG | ||||||
Domain | 155-215 | SH3 | ||||
Sequence: TETVTYIALGDFAAQQTGDLTFKKGDVLHIIEKKPDGWWLAKDAEGVEGLIPRTYLEPYNK | ||||||
Region | 215-237 | Disordered | ||||
Sequence: KEDKLESSEGSEEGGEEDGEEDV | ||||||
Compositional bias | 223-237 | Acidic residues | ||||
Sequence: EGSEEGGEEDGEEDV |
Domain
The SH3 domain mediates the stable interaction with Cas and is involved in establishing tight junctions in epithelial cells.
Sequence similarities
Belongs to the nephrocystin-1 family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length687
- Mass (Da)77,035
- Last updated2000-05-01 v1
- ChecksumFAA10B044F5CE678
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Features
Showing features for sequence conflict, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 46 | in Ref. 3; CAB45687 | ||||
Sequence: Y → C | ||||||
Sequence conflict | 90 | in Ref. 3; CAB45687 | ||||
Sequence: E → G | ||||||
Compositional bias | 118-141 | Acidic residues | ||||
Sequence: EEDDTTEDDEEETGGEEEESEGDG | ||||||
Sequence conflict | 210 | in Ref. 3; CAB45687 | ||||
Sequence: L → W | ||||||
Compositional bias | 223-237 | Acidic residues | ||||
Sequence: EGSEEGGEEDGEEDV | ||||||
Sequence conflict | 236 | in Ref. 2 | ||||
Sequence: D → DGEED | ||||||
Sequence conflict | 296 | in Ref. 3; CAB45687 | ||||
Sequence: Missing | ||||||
Sequence conflict | 360 | in Ref. 3; CAB45687 | ||||
Sequence: R → K | ||||||
Sequence conflict | 477 | in Ref. 3; CAB45687 | ||||
Sequence: V → A | ||||||
Sequence conflict | 549 | in Ref. 3; CAB45687 | ||||
Sequence: R → K | ||||||
Sequence conflict | 569-582 | in Ref. 4 | ||||
Sequence: PLLLEQPDVMDALR → MNGALCCPLSLQEK |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF127180 EMBL· GenBank· DDBJ | AAF22134.1 EMBL· GenBank· DDBJ | mRNA | ||
AF176210 EMBL· GenBank· DDBJ | AAD54311.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ243223 EMBL· GenBank· DDBJ | CAB45687.1 EMBL· GenBank· DDBJ | mRNA | ||
AK009252 EMBL· GenBank· DDBJ | - | mRNA | No translation available. |