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UniProtKB - O15259 (NPHP1_HUMAN)

Entry version 200 (25 May 2022)
Sequence version 1 (01 Jan 1998)
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Protein

Nephrocystin-1

Gene

NPHP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).

By similarity

Miscellaneous

Nephronophthisis type 1 patients deficient for NPHP1 show normal overall integrity of respiratory cilia.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCilium biogenesis/degradation, Differentiation, Spermatogenesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O15259

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5620912, Anchoring of the basal body to the plasma membrane

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O15259

SIGNOR Signaling Network Open Resource

More...SIGNORi		O15259

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Nephrocystin-1
Alternative name(s):
Juvenile nephronophthisis 1 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NPHP1
Synonyms:NPH1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:7905, NPHP1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607100, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O15259

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000144061

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cell junction, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Tight junction

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Nephronophthisis 1 (NPHP1)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012160342G → R in NPHP1; associated with Cogan-type congenital ocular motor apraxia. 1 PublicationCorresponds to variant dbSNP:rs121907899Ensembl.1
Senior-Loken syndrome 1 (SLSN1)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Joubert syndrome 4 (JBTS4)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi121S → A: Impairs interaction with PACS1; when associated with A-123 and A-126. 1 Publication1
Mutagenesisi123S → A: Impairs interaction with PACS1; when associated with A-121 and A-126. 1 Publication1
Mutagenesisi126S → A: Impairs interaction with PACS1; when associated with A-121 and A-123. 1 Publication1
Mutagenesisi180L → P: Loss of SH3 domain fold. 1 Publication1
Mutagenesisi203P → L: Does not affect fold stability, as assessed by circular dichroism thermal denaturation melting curves and by NMR spectroscopy. Affects interaction with PKD1. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease variant, Joubert syndrome, Leber congenital amaurosis, Nephronophthisis, Senior-Loken syndrome

Organism-specific databases

DisGeNET

More...DisGeNETi		4867

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		NPHP1

MalaCards human disease database

More...MalaCardsi		NPHP1
MIMi256100, phenotype
266900, phenotype
609583, phenotype

Open Targets

More...OpenTargetsi		ENSG00000144061

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		110, Bardet-Biedl syndrome
220497, Joubert syndrome with renal defect
93592, Juvenile nephronophthisis
3156, Senior-Loken syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31706

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O15259, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NPHP1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001595851 – 732Nephrocystin-1Add BLAST732

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei46Phosphotyrosine; by FAK21 Publication1
Modified residuei121Phosphoserine; by CK21 Publication1
Modified residuei123Phosphoserine; by CK21 Publication1
Modified residuei126Phosphoserine; by CK21 Publication1
Modified residuei349Phosphotyrosine; by FAK21 Publication1
Modified residuei721Phosphotyrosine; by SRC1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation by CK2 is required for the interaction with PACS1 and the targeting to the base region of cilia.2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O15259

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O15259

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O15259

PeptideAtlas

More...PeptideAtlasi		O15259

PRoteomics IDEntifications database

More...PRIDEi		O15259

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		48545 [O15259-1]
48546 [O15259-2]
48547 [O15259-3]
48548 [O15259-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O15259

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O15259

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widespread expression, with highest levels in pituitary gland, spinal cord, thyroid gland, testis, skeletal muscle, lymph node and trachea. Weakly expressed in heart, kidney and pancreas. Expressed in nasal epithelial cells (at protein level) (PubMed:16308564). Expressed in the renal collecting duct (at protein level) (PubMed:18477472).2 Publications

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

During in vitro ciliogenesis translocalizes from the cytoplasm to the ciliary transition zone during epithelial cell polarization.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000144061, Expressed in skeletal muscle tissue and 160 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O15259, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O15259, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000144061, Tissue enhanced (skeletal)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with BCAR1, PTK2B/PYK2 and tensin.

Interacts with INVS and NPHP3.

Interacts with PACS1; the interaction is dependent on NPHP1 phosphorylation by CK2.

Interacts with KIF7.

Interacts with AHI1 and TNK2.

Interacts with NPHP4 in a complex containing NPHP1, NPHP4 and RPGRIP1L.

Interacts with IQCB1; the interaction likely requires additional interactors.

Interacts with ANKS3 (By similarity).

Interacts with SPATA7 (By similarity).

Interacts with FLNA (By similarity).

By similarity10 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110927, 97 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O15259

Protein interaction database and analysis system

More...IntActi		O15259, 82 interactors

Molecular INTeraction database

More...MINTi		O15259

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000313169

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O15259, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1732
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		O15259

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O15259

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		O15259

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini152 – 212SH3PROSITE-ProRule annotationAdd BLAST61

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni103 – 153DisorderedSequence analysisAdd BLAST51
Regioni205 – 244DisorderedSequence analysisAdd BLAST40

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili3 – 105Sequence analysisAdd BLAST103
Coiled coili127 – 150Sequence analysisAdd BLAST24

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi113 – 144Acidic residuesSequence analysisAdd BLAST32
Compositional biasi212 – 233Acidic residuesSequence analysisAdd BLAST22

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The SH3 domain mediates the stable interaction with Cas.By similarity

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the nephrocystin-1 family.Curated

Keywords - Domaini

Coiled coil, SH3 domain

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QU7K, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000007701

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_024987_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O15259

Identification of Orthologs from Complete Genome Data

More...OMAi		SHSHLAF

Database of Orthologous Groups

More...OrthoDBi		676699at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O15259

TreeFam database of animal gene trees

More...TreeFami		TF320679

Family and domain databases

Conserved Domains Database

More...CDDi		cd11770, SH3_Nephrocystin, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR039687, NPHP1
IPR030642, NPHP1_SH3
IPR036028, SH3-like_dom_sf
IPR001452, SH3_domain

The PANTHER Classification System

More...PANTHERi		PTHR15176:SF1, PTHR15176:SF1, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00018, SH3_1, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00326, SH3, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50044, SSF50044, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50002, SH3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O15259-1) [UniParc]FASTAAdd to basket
Also known as: NPHP1

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLARRQRDPL QALRRRNQEL KQQVDSLLSE SQLKEALEPN KRQHIYQRCI 
        60         70         80         90        100
QLKQAIDENK NALQKLSKAD ESAPVANYNQ RKEEEHTLLD KLTQQLQGLA 
       110        120        130        140        150
VTISRENITE VGAPTEEEEE SESEDSEDSG GEEEDAEEEE EEKEENESHK 
       160        170        180        190        200
WSTGEEYIAV GDFTAQQVGD LTFKKGEILL VIEKKPDGWW IAKDAKGNEG 
       210        220        230        240        250
LVPRTYLEPY SEEEEGQESS EEGSEEDVEA VDETADGAEV KQRTDPHWSA 
       260        270        280        290        300
VQKAISEAGI FCLVNHVSFC YLIVLMRNRM ETVEDTNGSE TGFRAWNVQS 
       310        320        330        340        350
RGRIFLVSKP VLQINTVDVL TTMGAIPAGF RPSTLSQLLE EGNQFRANYF 
       360        370        380        390        400
LQPELMPSQL AFRDLMWDAT EGTIRSRPSR ISLILTLWSC KMIPLPGMSI 
       410        420        430        440        450
QVLSRHVRLC LFDGNKVLSN IHTVRATWQP KKPKTWTFSP QVTRILPCLL 
       460        470        480        490        500
DGDCFIRSNS ASPDLGILFE LGISYIRNST GERGELSCGW VFLKLFDASG 
       510        520        530        540        550
VPIPAKTYEL FLNGGTPYEK GIEVDPSISR RAHGSVFYQI MTMRRQPQLL 
       560        570        580        590        600
VKLRSLNRRS RNVLSLLPET LIGNMCSIHL LIFYRQILGD VLLKDRMSLQ 
       610        620        630        640        650
STDLISHPML ATFPMLLEQP DVMDALRSSW AGKESTLKRS EKRDKEFLKS 
       660        670        680        690        700
TFLLVYHDCV LPLLHSTRLP PFRWAEEETE TARWKVITDF LKQNQENQGA 
       710        720        730 
LQALLSPDGV HEPFDLSEQT YDFLGEMRKN AV
Length:732
Mass (Da):83,299
Last modified:January 1, 1998 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i270125F56F2C50F7
GO
Isoform 2 (identifier: O15259-2) [UniParc]FASTAAdd to basket
Also known as: NPHP1-8A

The sequence of this isoform differs from the canonical sequence as follows:
     258-312: Missing.

Show »
Length:677
Mass (Da):77,041
Checksum:iEB4C60DC4967021D
GO
Isoform 3 (identifier: O15259-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     49-110: Missing.
     258-313: Missing.

Show »
Length:614
Mass (Da):69,909
Checksum:iBBBDED56BF312D45
GO
Isoform 4 (identifier: O15259-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     313-313: Q → QQ

Show »
Length:733
Mass (Da):83,428
Checksum:iB3222151828658D8
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J082C9J082_HUMAN
Nephrocystin-1
NPHP1 hCG_1988612
121Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JNM7C9JNM7_HUMAN
Nephrocystin-1
NPHP1
711Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PGI7A0A6Q8PGI7_HUMAN
Nephrocystin-1
NPHP1
609Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PHD4A0A6Q8PHD4_HUMAN
Nephrocystin-1
NPHP1
616Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C2K4H7C2K4_HUMAN
Nephrocystin-1
NPHP1
45Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PH10A0A6Q8PH10_HUMAN
Nephrocystin-1
NPHP1
409Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C014H7C014_HUMAN
Nephrocystin-1
NPHP1
47Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PHS3A0A6Q8PHS3_HUMAN
Nephrocystin-1
NPHP1 hCG_1988612
410Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0776335R → L Changed function; unable to rescue the corresponding loss of function zebrafish mutant which displays a cilium function alteration phenotype. 1 PublicationCorresponds to variant dbSNP:rs190983114EnsemblClinVar.1
Natural variantiVAR_012160342G → R in NPHP1; associated with Cogan-type congenital ocular motor apraxia. 1 PublicationCorresponds to variant dbSNP:rs121907899Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_01007349 – 110Missing in isoform 3. 1 PublicationAdd BLAST62
Alternative sequenceiVSP_010074258 – 313Missing in isoform 3. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_003424258 – 312Missing in isoform 2. 1 PublicationAdd BLAST55
Alternative sequenceiVSP_024381313Q → QQ in isoform 4. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AJ001815 mRNA Translation: CAA05030.1
AF023674 mRNA Translation: AAC51771.1
AC013268 Genomic DNA No translation available.
AC140479 Genomic DNA No translation available.
BC009789 mRNA No translation available.
BC062574 mRNA Translation: AAH62574.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2086.1 [O15259-4]
CCDS46384.1 [O15259-3]
CCDS46385.1 [O15259-1]
CCDS46386.1 [O15259-2]

NCBI Reference Sequences

More...RefSeqi		NP_000263.2, NM_000272.3 [O15259-4]
NP_001121650.1, NM_001128178.1 [O15259-2]
NP_001121651.1, NM_001128179.1 [O15259-3]
NP_997064.2, NM_207181.2 [O15259-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000316534.8; ENSP00000313169.4; ENSG00000144061.14 [O15259-4]
ENST00000355301.8; ENSP00000347452.4; ENSG00000144061.14 [O15259-3]
ENST00000393272.7; ENSP00000376953.3; ENSG00000144061.14
ENST00000445609.7; ENSP00000389879.3; ENSG00000144061.14 [O15259-2]
ENST00000676053.1; ENSP00000502475.1; ENSG00000144061.14 [O15259-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4867

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4867

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000445609.7; ENSP00000389879.3; NM_001128178.3; NP_001121650.1 [O15259-2]

UCSC genome browser

More...UCSCi		uc002tfl.6, human [O15259-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ001815 mRNA Translation: CAA05030.1
AF023674 mRNA Translation: AAC51771.1
AC013268 Genomic DNA No translation available.
AC140479 Genomic DNA No translation available.
BC009789 mRNA No translation available.
BC062574 mRNA Translation: AAH62574.1
CCDSiCCDS2086.1 [O15259-4]
CCDS46384.1 [O15259-3]
CCDS46385.1 [O15259-1]
CCDS46386.1 [O15259-2]
RefSeqiNP_000263.2, NM_000272.3 [O15259-4]
NP_001121650.1, NM_001128178.1 [O15259-2]
NP_001121651.1, NM_001128179.1 [O15259-3]
NP_997064.2, NM_207181.2 [O15259-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1S1NNMR-A147-212[»]
6O1QNMR-A1-115[»]
AlphaFoldDBiO15259
SMRiO15259
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi110927, 97 interactors
CORUMiO15259
IntActiO15259, 82 interactors
MINTiO15259
STRINGi9606.ENSP00000313169

PTM databases

iPTMnetiO15259
PhosphoSitePlusiO15259

Genetic variation databases

BioMutaiNPHP1

Proteomic databases

EPDiO15259
MassIVEiO15259
PaxDbiO15259
PeptideAtlasiO15259
PRIDEiO15259
ProteomicsDBi48545 [O15259-1]
48546 [O15259-2]
48547 [O15259-3]
48548 [O15259-4]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		O15259, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

More...Antibodypediai		18009, 153 antibodies from 26 providers

The DNASU plasmid repository

More...DNASUi		4867

Genome annotation databases

EnsembliENST00000316534.8; ENSP00000313169.4; ENSG00000144061.14 [O15259-4]
ENST00000355301.8; ENSP00000347452.4; ENSG00000144061.14 [O15259-3]
ENST00000393272.7; ENSP00000376953.3; ENSG00000144061.14
ENST00000445609.7; ENSP00000389879.3; ENSG00000144061.14 [O15259-2]
ENST00000676053.1; ENSP00000502475.1; ENSG00000144061.14 [O15259-3]
GeneIDi4867
KEGGihsa:4867
MANE-SelectiENST00000445609.7; ENSP00000389879.3; NM_001128178.3; NP_001121650.1 [O15259-2]
UCSCiuc002tfl.6, human [O15259-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4867
DisGeNETi4867

GeneCards: human genes, protein and diseases

More...GeneCardsi		NPHP1
GeneReviewsiNPHP1
HGNCiHGNC:7905, NPHP1
HPAiENSG00000144061, Tissue enhanced (skeletal)
MalaCardsiNPHP1
MIMi256100, phenotype
266900, phenotype
607100, gene
609583, phenotype
neXtProtiNX_O15259
OpenTargetsiENSG00000144061
Orphaneti110, Bardet-Biedl syndrome
220497, Joubert syndrome with renal defect
93592, Juvenile nephronophthisis
3156, Senior-Loken syndrome
PharmGKBiPA31706
VEuPathDBiHostDB:ENSG00000144061

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QU7K, Eukaryota
GeneTreeiENSGT00390000007701
HOGENOMiCLU_024987_1_0_1
InParanoidiO15259
OMAiSHSHLAF
OrthoDBi676699at2759
PhylomeDBiO15259
TreeFamiTF320679

Enzyme and pathway databases

PathwayCommonsiO15259
ReactomeiR-HSA-5620912, Anchoring of the basal body to the plasma membrane
SignaLinkiO15259
SIGNORiO15259

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4867, 15 hits in 1070 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		NPHP1, human
EvolutionaryTraceiO15259

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		NPHP1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		4867
PharosiO15259, Tbio

Protein Ontology

More...PROi		PR:O15259
RNActiO15259, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000144061, Expressed in skeletal muscle tissue and 160 other tissues
ExpressionAtlasiO15259, baseline and differential
GenevisibleiO15259, HS

Family and domain databases

CDDicd11770, SH3_Nephrocystin, 1 hit
InterProiView protein in InterPro
IPR039687, NPHP1
IPR030642, NPHP1_SH3
IPR036028, SH3-like_dom_sf
IPR001452, SH3_domain
PANTHERiPTHR15176:SF1, PTHR15176:SF1, 1 hit
PfamiView protein in Pfam
PF00018, SH3_1, 1 hit
SMARTiView protein in SMART
SM00326, SH3, 1 hit
SUPFAMiSSF50044, SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS50002, SH3, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNPHP1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O15259
Secondary accession number(s): O14837
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: January 1, 1998
Last modified: May 25, 2022
This is version 200 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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