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Entry version 158 (13 Nov 2019)
Sequence version 2 (27 Jan 2003)
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Protein

Nephrocystin-4

Gene

NPHP4

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

Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module (PubMed:19755384, PubMed:21565611). Does not seem to be strictly required for ciliogenesis (PubMed:21565611). Required for building functional cilia. Involved in the organization of the subapical actin network in multiciliated epithelial cells. Seems to recruit INT to basal bodies of motile cilia which subsequently interacts with actin-modifying proteins such as DAAM1 (By similarity). In cooperation with INVS may downregulate the canonical Wnt pathway and promote the Wnt-PCP pathway by regulating expression and subcellular location of disheveled proteins. Stabilizes protein levels of JADE1 and promotes its translocation to the nucleus leading to cooperative inhibition of canonical Wnt signaling (PubMed:21498478, PubMed:22654112). Acts as negative regulator of the hippo pathway by association with LATS1 and modifying LATS1-dependent phosphorylation and localization of WWTR1/TAZ (PubMed:21555462).By similarity1 Publication4 Publications

<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

GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2028269 Signaling by Hippo
R-HSA-5620912 Anchoring of the basal body to the plasma membrane

<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_and_taxonomy_section">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-4
Alternative name(s):
Nephroretinin
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:NPHP4
Synonyms:KIAA0673
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 1

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:19104 NPHP4

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607215 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_O75161

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<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>Keywords - Cellular componenti

Cell junction, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Nucleus, 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 4 (NPHP4)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.
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_022529342R → C in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs190940697EnsemblClinVar.1
Natural variantiVAR_022530469R → W in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs758253306EnsemblClinVar.1
Natural variantiVAR_022534654A → G in NPHP4. 1 Publication1
Natural variantiVAR_022535735R → W in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs191913664EnsemblClinVar.1
Natural variantiVAR_015214754G → R in NPHP4; affects interaction with RPGRIP1L; disrupts interaction with RPGRIP1. 3 PublicationsCorresponds to variant dbSNP:rs373962831EnsemblClinVar.1
Natural variantiVAR_022538766Q → R in NPHP4; with color blindness. 1 Publication1
Natural variantiVAR_022539776P → R in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs201527181EnsemblClinVar.1
Natural variantiVAR_022540782H → Q in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs1433852047Ensembl.1
Natural variantiVAR_022543961R → H in NPHP4; also found in a patient with cardiac laterality defects. 2 PublicationsCorresponds to variant dbSNP:rs183885357EnsemblClinVar.1
Natural variantiVAR_015186991F → S in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs28940891EnsemblClinVar.1
Natural variantiVAR_0225441098A → T in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs41280798EnsemblClinVar.1
Natural variantiVAR_0225451192R → W in NPHP4; also found in a patient with cardiac laterality defects. 2 PublicationsCorresponds to variant dbSNP:rs139022622EnsemblClinVar.1
Natural variantiVAR_0225471284R → C in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs779755743Ensembl.1
Natural variantiVAR_0225481287Q → E in NPHP4; with hearing loss. 1 PublicationCorresponds to variant dbSNP:rs201779243EnsemblClinVar.1
Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including NPHP4, influence the clinical outcome (PubMed:21258341).1 Publication
Senior-Loken syndrome 4 (SLSN4)4 Publications
The disease is caused by mutations 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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0225263D → Y in SLSN4. 1 PublicationCorresponds to variant dbSNP:rs145078518Ensembl.1
Natural variantiVAR_02252891F → L in SLSN4; also found in a patient with cardiac laterality defects; impairs localization to the ciliary transition zone. 1 Publication2 PublicationsCorresponds to variant dbSNP:rs201065230EnsemblClinVar.1
Natural variantiVAR_022533627T → M in SLSN4. 1 PublicationCorresponds to variant dbSNP:rs199891059Ensembl.1
Natural variantiVAR_022542946T → A in SLSN4. 1 Publication1
Natural variantiVAR_0225461225T → M in SLSN4. 1 PublicationCorresponds to variant dbSNP:rs144624477EnsemblClinVar.1
May be involved in male infertility. Homozygosity for a frameshift truncating mutation are associated with markedly abnormal sperm morphology.1 Publication
May be involved in cardiac laterality defects and heterotaxy. Homozygosity for a frameshift truncating mutation are associated with markedly abnormal sperm morphology.1 Publication

Keywords - Diseasei

Ciliopathy, Disease mutation, Leber congenital amaurosis, Nephronophthisis, Senior-Loken syndrome

Organism-specific databases

DisGeNET

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DisGeNETi
261734

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

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GeneReviewsi
NPHP4

MalaCards human disease database

More...
MalaCardsi
NPHP4
MIMi606966 phenotype
606996 phenotype

Open Targets

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OpenTargetsi
ENSG00000131697

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

More...
Orphaneti
93592 Juvenile nephronophthisis
3156 Senior-Loken syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134927048

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
O75161

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NPHP4

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001597691 – 1426Nephrocystin-4Add BLAST1426

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 residuei142PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O75161

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O75161

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
O75161

MaxQB - The MaxQuant DataBase

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MaxQBi
O75161

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

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PaxDbi
O75161

PeptideAtlas

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PeptideAtlasi
O75161

PRoteomics IDEntifications database

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PRIDEi
O75161

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
49828 [O75161-1]
70841

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O75161

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

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PhosphoSitePlusi
O75161

<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

Expressed in kidney, skeletal muscle, heart and liver, and to a lesser extent in brain and lung.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000131697 Expressed in 134 organ(s), highest expression level in adenohypophysis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O75161 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O75161 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA065526

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with NPHP1 (PubMed:15661758).

Interacts with NPHP1 and RPGRIP1L/NPHP8; NPHP1, NPHP4 and RPGRIP1L are proposed to form a functional NPHP1-4-8 module localized to cell-cell contacts and the ciliary transition zone; NPHP4 mediates the interaction between NPHP1 and RPGRIP1L.

Interacts with IQCB1/NPHP5; the interaction likely requires additional interactors (By similarity).

Interacts with RPGRIP1, CEP164, JADE1, MPP5, INADL, PARD6A, INVS, DVL2, LATS1.

Interacts with INTU; INTU mediates the interaction between NPHP4 and DAAM1 (PubMed:26644512).

Interacts with SPATA7 (By similarity).

By similarity11 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
129286, 52 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O75161

Protein interaction database and analysis system

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IntActi
O75161, 87 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000367398

<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

3D structure databases

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

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SMRi
O75161

Database of comparative protein structure models

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ModBasei
Search...

<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

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>Regioni823 – 1426Sufficient for basal bodies localization1 PublicationAdd BLAST604

<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 NPHP4 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IEHW Eukaryota
ENOG410XW3A LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00510000048827

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000049142

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O75161

KEGG Orthology (KO)

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KOi
K16478

Identification of Orthologs from Complete Genome Data

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OMAi
HQLVSSW

Database of Orthologous Groups

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OrthoDBi
53958at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O75161

TreeFam database of animal gene trees

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TreeFami
TF351573

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR029775 NPHP4

The PANTHER Classification System

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PANTHERi
PTHR31043 PTHR31043, 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_length">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 (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 2 <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 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O75161-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><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
MNDWHRIFTQ NVLVPPHPQR ARQPWKESTA FQCVLKWLDG PVIRQGVLEV
60 70 80 90 100
LSEVECHLRV SFFDVTYRHF FGRTWKTTVK PTKRPPSRIV FNEPLYFHTS
110 120 130 140 150
LNHPHIVAVV EVVAEGKKRD GSLQTLSCGF GILRIFSNQP DSPISASQDK
160 170 180 190 200
RLRLYHGTPR ALLHPLLQDP AEQNRHMTLI ENCSLQYTLK PHPALEPAFH
210 220 230 240 250
LLPENLLVSG LQQIPGLLPA HGESGDALRK PRLQKPITGH LDDLFFTLYP
260 270 280 290 300
SLEKFEEELL ELHVQDHFQE GCGPLDGGAL EILERRLRVG VHNGLGFVQR
310 320 330 340 350
PQVVVLVPEM DVALTRSASF SRKVVSSSKT SSGSQALVLR SRLRLPEMVG
360 370 380 390 400
HPAFAVIFQL EYVFSSPAGV DGNAASVTSL SNLACMHMVR WAVWNPLLEA
410 420 430 440 450
DSGRVTLPLQ GGIQPNPSHC LVYKVPSASM SSEEVKQVES GTLRFQFSLG
460 470 480 490 500
SEEHLDAPTE PVSGPKVERR PSRKPPTSPS SPPAPVPRVL AAPQNSPVGP
510 520 530 540 550
GLSISQLAAS PRSPTQHCLA RPTSQLPHGS QASPAQAQEF PLEAGISHLE
560 570 580 590 600
ADLSQTSLVL ETSIAEQLQE LPFTPLHAPI VVGTQTRSSA GQPSRASMVL
610 620 630 640 650
LQSSGFPEIL DANKQPAEAV SATEPVTFNP QKEESDCLQS NEMVLQFLAF
660 670 680 690 700
SRVAQDCRGT SWPKTVYFTF QFYRFPPATT PRLQLVQLDE AGQPSSGALT
710 720 730 740 750
HILVPVSRDG TFDAGSPGFQ LRYMVGPGFL KPGERRCFAR YLAVQTLQID
760 770 780 790 800
VWDGDSLLLI GSAAVQMKHL LRQGRPAVQA SHELEVVATE YEQDNMVVSG
810 820 830 840 850
DMLGFGRVKP IGVHSVVKGR LHLTLANVGH PCEQKVRGCS TLPPSRSRVI
860 870 880 890 900
SNDGASRFSG GSLLTTGSSR RKHVVQAQKL ADVDSELAAM LLTHARQGKG
910 920 930 940 950
PQDVSRESDA TRRRKLERMR SVRLQEAGGD LGRRGTSVLA QQSVRTQHLR
960 970 980 990 1000
DLQVIAAYRE RTKAESIASL LSLAITTEHT LHATLGVAEF FEFVLKNPHN
1010 1020 1030 1040 1050
TQHTVTVEID NPELSVIVDS QEWRDFKGAA GLHTPVEEDM FHLRGSLAPQ
1060 1070 1080 1090 1100
LYLRPHETAH VPFKFQSFSA GQLAMVQASP GLSNEKGMDA VSPWKSSAVP
1110 1120 1130 1140 1150
TKHAKVLFRA SGGKPIAVLC LTVELQPHVV DQVFRFYHPE LSFLKKAIRL
1160 1170 1180 1190 1200
PPWHTFPGAP VGMLGEDPPV HVRCSDPNVI CETQNVGPGE PRDIFLKVAS
1210 1220 1230 1240 1250
GPSPEIKDFF VIIYSDRWLA TPTQTWQVYL HSLQRVDVSC VAGQLTRLSL
1260 1270 1280 1290 1300
VLRGTQTVRK VRAFTSHPQE LKTDPKGVFV LPPRGVQDLH VGVRPLRAGS
1310 1320 1330 1340 1350
RFVHLNLVDV DCHQLVASWL VCLCCRQPLI SKAFEIMLAA GEGKGVNKRI
1360 1370 1380 1390 1400
TYTNPYPSRR TFHLHSDHPE LLRFREDSFQ VGGGETYTIG LQFAPSQRVG
1410 1420
EEEILIYIND HEDKNEEAFC VKVIYQ
Length:1,426
Mass (Da):157,598
Last modified:January 27, 2003 - v2
<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:i8C974278F4EE4505
GO
Isoform 2 (identifier: O75161-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     538-538: Missing.
     872-912: KHVVQAQKLA...DVSRESDATR → WALQATVLFG...NGEKVRRNID
     913-1426: Missing.

Note: No experimental confirmation available.
Show »
Length:911
Mass (Da):99,953
Checksum:i070AACB893EEDFC7
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RA06D6RA06_HUMAN
Nephrocystin-4
NPHP4
262Annotation 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>
H0YA08H0YA08_HUMAN
Nephrocystin-4
NPHP4
138Annotation 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_0225263D → Y in SLSN4. 1 PublicationCorresponds to variant dbSNP:rs145078518Ensembl.1
Natural variantiVAR_02252729T → M1 PublicationCorresponds to variant dbSNP:rs12142270EnsemblClinVar.1
Natural variantiVAR_02252891F → L in SLSN4; also found in a patient with cardiac laterality defects; impairs localization to the ciliary transition zone. 1 Publication2 PublicationsCorresponds to variant dbSNP:rs201065230EnsemblClinVar.1
Natural variantiVAR_065557160R → L in a patient with nephronophthisis with extra-renal features; the patient also carries W-735 in the same gene and L-209 in TTC21B. 1 Publication1
Natural variantiVAR_076785164H → Y Found in a patient with cardiac laterality defects; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs761063669EnsemblClinVar.1
Natural variantiVAR_079179315T → M1 PublicationCorresponds to variant dbSNP:rs200684272EnsemblClinVar.1
Natural variantiVAR_022529342R → C in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs190940697EnsemblClinVar.1
Natural variantiVAR_022530469R → W in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs758253306EnsemblClinVar.1
Natural variantiVAR_076786541P → L Found in a patient with cardiac laterality defects; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs145255635EnsemblClinVar.1
Natural variantiVAR_022531544A → G1 PublicationCorresponds to variant dbSNP:rs12093500EnsemblClinVar.1
Natural variantiVAR_022532618E → K1 PublicationCorresponds to variant dbSNP:rs571655EnsemblClinVar.1
Natural variantiVAR_022533627T → M in SLSN4. 1 PublicationCorresponds to variant dbSNP:rs199891059Ensembl.1
Natural variantiVAR_022534654A → G in NPHP4. 1 Publication1
Natural variantiVAR_022535735R → W in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs191913664EnsemblClinVar.1
Natural variantiVAR_022536740R → H Polymorphism; does not affect interaction with RPGRIP1L; does not affect interaction with RPGRIP1. 3 PublicationsCorresponds to variant dbSNP:rs34248917EnsemblClinVar.1
Natural variantiVAR_015214754G → R in NPHP4; affects interaction with RPGRIP1L; disrupts interaction with RPGRIP1. 3 PublicationsCorresponds to variant dbSNP:rs373962831EnsemblClinVar.1
Natural variantiVAR_022537765V → I1 PublicationCorresponds to variant dbSNP:rs149244006EnsemblClinVar.1
Natural variantiVAR_022538766Q → R in NPHP4; with color blindness. 1 Publication1
Natural variantiVAR_022539776P → R in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs201527181EnsemblClinVar.1
Natural variantiVAR_022540782H → Q in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs1433852047Ensembl.1
Natural variantiVAR_015215848R → W Polymorphism; does not affect interaction with RPGRIP1L; does not affect interaction with RPGRIP1. 4 PublicationsCorresponds to variant dbSNP:rs17472401EnsemblClinVar.1
Natural variantiVAR_076787883V → M Found in a patient with cardiac laterality defects; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs769851221EnsemblClinVar.1
Natural variantiVAR_076788906R → C Found in a patient with cardiac laterality defects; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199992272EnsemblClinVar.1
Natural variantiVAR_037622939L → Q. Corresponds to variant dbSNP:rs1287637Ensembl.1
Natural variantiVAR_022541940 – 941Missing 1 Publication2
Natural variantiVAR_022542946T → A in SLSN4. 1 Publication1
Natural variantiVAR_037623959R → Q. Corresponds to variant dbSNP:rs12084067EnsemblClinVar.1
Natural variantiVAR_022543961R → H in NPHP4; also found in a patient with cardiac laterality defects. 2 PublicationsCorresponds to variant dbSNP:rs183885357EnsemblClinVar.1
Natural variantiVAR_015186991F → S in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs28940891EnsemblClinVar.1
Natural variantiVAR_0767891044R → H Found in a patient with cardiac laterality defects; fails to rescue heart looping defects in zebrafish knockout. 1 PublicationCorresponds to variant dbSNP:rs375819124Ensembl.1
Natural variantiVAR_0225441098A → T in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs41280798EnsemblClinVar.1
Natural variantiVAR_0767901110A → V Found in a patient with cardiac laterality defects; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139767853EnsemblClinVar.1
Natural variantiVAR_0225451192R → W in NPHP4; also found in a patient with cardiac laterality defects. 2 PublicationsCorresponds to variant dbSNP:rs139022622EnsemblClinVar.1
Natural variantiVAR_0225461225T → M in SLSN4. 1 PublicationCorresponds to variant dbSNP:rs144624477EnsemblClinVar.1
Natural variantiVAR_0767911236V → M Found in a patient with cardiac laterality defects; fails to rescue heart looping defects in zebrafish knockout. 1 PublicationCorresponds to variant dbSNP:rs781049266Ensembl.1
Natural variantiVAR_0225471284R → C in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs779755743Ensembl.1
Natural variantiVAR_0225481287Q → E in NPHP4; with hearing loss. 1 PublicationCorresponds to variant dbSNP:rs201779243EnsemblClinVar.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_054514538Missing in isoform 2. 1 Publication1
Alternative sequenceiVSP_054515872 – 912KHVVQ…SDATR → WALQATVLFGEVGTLPVAFV SGWLLICKGRRNGEKVRRNI D in isoform 2. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_054516913 – 1426Missing in isoform 2. 1 PublicationAdd BLAST514

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY118228 mRNA Translation: AAM78558.1
AF537130 mRNA Translation: AAN06814.1
AL035406 Genomic DNA No translation available.
AL356261 Genomic DNA No translation available.
AL356693 Genomic DNA No translation available.
CH471130 Genomic DNA Translation: EAW71509.1
BC040520 mRNA Translation: AAH40520.1
AB014573 mRNA Translation: BAA31648.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS44052.1 [O75161-1]

Protein sequence database of the Protein Information Resource

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PIRi
T00364

NCBI Reference Sequences

More...
RefSeqi
NP_001278522.1, NM_001291593.1
NP_001278523.1, NM_001291594.1
NP_055917.1, NM_015102.4 [O75161-1]
XP_006710626.1, XM_006710563.3 [O75161-1]
XP_011539518.1, XM_011541216.2 [O75161-1]
XP_011539519.1, XM_011541217.2 [O75161-1]
XP_011539520.1, XM_011541218.2 [O75161-1]
XP_016856486.1, XM_017000997.1 [O75161-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000378156; ENSP00000367398; ENSG00000131697 [O75161-1]
ENST00000489180; ENSP00000423747; ENSG00000131697 [O75161-2]
ENST00000622020; ENSP00000481831; ENSG00000131697 [O75161-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
261734

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:261734

UCSC genome browser

More...
UCSCi
uc001alq.3 human [O75161-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AY118228 mRNA Translation: AAM78558.1
AF537130 mRNA Translation: AAN06814.1
AL035406 Genomic DNA No translation available.
AL356261 Genomic DNA No translation available.
AL356693 Genomic DNA No translation available.
CH471130 Genomic DNA Translation: EAW71509.1
BC040520 mRNA Translation: AAH40520.1
AB014573 mRNA Translation: BAA31648.1
CCDSiCCDS44052.1 [O75161-1]
PIRiT00364
RefSeqiNP_001278522.1, NM_001291593.1
NP_001278523.1, NM_001291594.1
NP_055917.1, NM_015102.4 [O75161-1]
XP_006710626.1, XM_006710563.3 [O75161-1]
XP_011539518.1, XM_011541216.2 [O75161-1]
XP_011539519.1, XM_011541217.2 [O75161-1]
XP_011539520.1, XM_011541218.2 [O75161-1]
XP_016856486.1, XM_017000997.1 [O75161-1]

3D structure databases

SMRiO75161
ModBaseiSearch...

Protein-protein interaction databases

BioGridi129286, 52 interactors
CORUMiO75161
IntActiO75161, 87 interactors
STRINGi9606.ENSP00000367398

PTM databases

iPTMnetiO75161
PhosphoSitePlusiO75161

Polymorphism and mutation databases

BioMutaiNPHP4

Proteomic databases

EPDiO75161
jPOSTiO75161
MassIVEiO75161
MaxQBiO75161
PaxDbiO75161
PeptideAtlasiO75161
PRIDEiO75161
ProteomicsDBi49828 [O75161-1]
70841

Genome annotation databases

EnsembliENST00000378156; ENSP00000367398; ENSG00000131697 [O75161-1]
ENST00000489180; ENSP00000423747; ENSG00000131697 [O75161-2]
ENST00000622020; ENSP00000481831; ENSG00000131697 [O75161-2]
GeneIDi261734
KEGGihsa:261734
UCSCiuc001alq.3 human [O75161-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
261734
DisGeNETi261734

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NPHP4
GeneReviewsiNPHP4
HGNCiHGNC:19104 NPHP4
HPAiHPA065526
MalaCardsiNPHP4
MIMi606966 phenotype
606996 phenotype
607215 gene
neXtProtiNX_O75161
OpenTargetsiENSG00000131697
Orphaneti93592 Juvenile nephronophthisis
3156 Senior-Loken syndrome
PharmGKBiPA134927048

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IEHW Eukaryota
ENOG410XW3A LUCA
GeneTreeiENSGT00510000048827
HOGENOMiHOG000049142
InParanoidiO75161
KOiK16478
OMAiHQLVSSW
OrthoDBi53958at2759
PhylomeDBiO75161
TreeFamiTF351573

Enzyme and pathway databases

ReactomeiR-HSA-2028269 Signaling by Hippo
R-HSA-5620912 Anchoring of the basal body to the plasma membrane

Miscellaneous databases

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

More...
ChiTaRSi
NPHP4 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
NPHP4

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

More...
GenomeRNAii
261734
PharosiO75161

Protein Ontology

More...
PROi
PR:O75161

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000131697 Expressed in 134 organ(s), highest expression level in adenohypophysis
ExpressionAtlasiO75161 baseline and differential
GenevisibleiO75161 HS

Family and domain databases

InterProiView protein in InterPro
IPR029775 NPHP4
PANTHERiPTHR31043 PTHR31043, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

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 nameiNPHP4_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: O75161
Secondary accession number(s): Q8IWC0
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: January 27, 2003
Last modified: November 13, 2019
This is version 158 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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