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Entry version 147 (08 May 2019)
Sequence version 1 (01 Oct 2003)
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Protein

Nephrocystin-3

Gene

NPHP3

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

Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements.1 Publication

<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 - Biological processi

<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 processWnt signaling pathway

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5624138 Trafficking of myristoylated proteins to the cilium

<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-3
<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:NPHP3
Synonyms:KIAA2000
<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 3

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:7907 NPHP3

Online Mendelian Inheritance in Man (OMIM)

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MIMi
608002 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q7Z494

<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

Keywords - Cellular componenti

Cell projection, Cilium

<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 3 (NPHP3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction.
See also OMIM:604387
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_022815360S → T in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs119456960EnsemblClinVar.1
Natural variantiVAR_022816386N → S in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs142021049EnsemblClinVar.1
Natural variantiVAR_022817397R → H in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs755094682Ensembl.1
Natural variantiVAR_0228181141L → P in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs1057521090EnsemblClinVar.1
Natural variantiVAR_0228191221A → V in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs202048210EnsemblClinVar.1
Natural variantiVAR_0228201252S → R in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs143451766EnsemblClinVar.1
Natural variantiVAR_0228211314S → T in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs75316802EnsemblClinVar.1
Renal-hepatic-pancreatic dysplasia 1 (RHPD1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates.
See also OMIM:208540
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_044121973R → Q in RHPD1. 1 PublicationCorresponds to variant dbSNP:rs119456963EnsemblClinVar.1
Meckel syndrome 7 (MKS7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
See also OMIM:267010

Keywords - Diseasei

Ciliopathy, Disease mutation, Meckel syndrome, Nephronophthisis

Organism-specific databases

DisGeNET

More...
DisGeNETi
27031

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

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GeneReviewsi
NPHP3

MalaCards human disease database

More...
MalaCardsi
NPHP3
MIMi208540 phenotype
267010 phenotype
604387 phenotype

Open Targets

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OpenTargetsi
ENSG00000113971
ENSG00000274810

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

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Orphaneti
93591 Infantile nephronophthisis
93589 Late-onset nephronophthisis
3032 NPHP3-related Meckel-like syndrome
294415 Renal-hepatic-pancreatic dysplasia
3156 Senior-Loken syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA31708

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
NPHP3

Domain mapping of disease mutations (DMDM)

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DMDMi
68565783

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved
<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_00001063012 – 1330Nephrocystin-3Add BLAST1329

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi2N-myristoyl glycine1 Publication1

Keywords - PTMi

Lipoprotein, Myristate

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q7Z494

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q7Z494

MaxQB - The MaxQuant DataBase

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MaxQBi
Q7Z494

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

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PaxDbi
Q7Z494

PeptideAtlas

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PeptideAtlasi
Q7Z494

PRoteomics IDEntifications database

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PRIDEi
Q7Z494

ProteomicsDB human proteome resource

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ProteomicsDBi
69163
69164 [Q7Z494-2]
69165 [Q7Z494-3]
69166 [Q7Z494-4]
69167 [Q7Z494-5]
69168 [Q7Z494-6]
69169 [Q7Z494-7]

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
Q7Z494

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q7Z494

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

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PhosphoSitePlusi
Q7Z494

<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

Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000113971 Expressed in 203 organ(s), highest expression level in female gonad

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q7Z494 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q7Z494 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA009150

<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 and INVS/NPHP2. Interacts (when myristoylated) with UNC119 and UNC119B; interaction is required for localization to cilium. Interacts with CEP164. Component of a complex containing at least ANKS6, INVS, NEK8 and NPHP3. ANKS6 may organize complex assembly by linking INVS and NPHP3 to NEK8 and INVS may target the complex to the proximal ciliary axoneme.6 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
117962, 30 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q7Z494

Protein interaction database and analysis system

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IntActi
Q7Z494, 9 interactors

Molecular INTeraction database

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MINTi
Q7Z494

STRING: functional protein association networks

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STRINGi
9606.ENSP00000338766

<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

11330
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5L7KX-ray2.10B2-7[»]

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

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SMRi
Q7Z494

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati471 – 504TPR 1Add BLAST34
Repeati885 – 918TPR 2Add BLAST34
Repeati920 – 942TPR 3Add BLAST23
Repeati943 – 976TPR 4Add BLAST34
Repeati985 – 1018TPR 5Add BLAST34
Repeati1027 – 1060TPR 6Add BLAST34
Repeati1093 – 1126TPR 7Add BLAST34
Repeati1135 – 1168TPR 8Add BLAST34
Repeati1177 – 1210TPR 9Add BLAST34
Repeati1219 – 1252TPR 10Add BLAST34
Repeati1261 – 1294TPR 11Add BLAST34

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 coili83 – 207Sequence analysisAdd BLAST125

Keywords - Domaini

Coiled coil, Repeat, TPR repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1840 Eukaryota
COG0457 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156398

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q7Z494

KEGG Orthology (KO)

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KOi
K19360

Identification of Orthologs from Complete Genome Data

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OMAi
SMAAEYF

Database of Orthologous Groups

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OrthoDBi
69856at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q7Z494

TreeFam database of animal gene trees

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TreeFami
TF314010

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.10, 3 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR027417 P-loop_NTPase
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat

Pfam protein domain database

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Pfami
View protein in Pfam
PF13176 TPR_7, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00028 TPR, 8 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48452 SSF48452, 2 hits
SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50005 TPR, 8 hits
PS50293 TPR_REGION, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 7 <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
Note: Additional isoforms seem to exist.

This entry has 7 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7Z494-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGTASSLVSP AGGEVIEDTY GAGGGEACEI PVEVKPKARL LRNSFRRGAG
60 70 80 90 100
AAAGAGPGSL PRGVGAGGLL GASFKSTGSS VPELEYAAAE YERLRKEYEI
110 120 130 140 150
FRVSKNQELL SMGRREAKLD TENKRLRAEL QALQKTYQKI LREKESALEA
160 170 180 190 200
KYQAMERAAT FEHDRDKVKR QFKIFRETKE NEIQDLLRAK RELESKLQRL
210 220 230 240 250
QAQGIQVFDP GESDSDDNCT DVTAAGTQCE YWTGGALGSE PSIGSMIQLQ
260 270 280 290 300
QSFRGPEFAH SSIDVEGPFA NVNRDDWDIA VASLLQVTPL FSHSLWSNTV
310 320 330 340 350
RCYLIYTDET QPEMDLFLKD YSPKLKRMCE TMGYFFHAVY FPIDVENQYL
360 370 380 390 400
TVRKWEIEKS SLVILFIHLT LPSLLLEDCE EAFLKNPEGK PRLIFHRLED
410 420 430 440 450
GKVSSDSVQQ LIDQVSNLNK TSKAKIIDHS GDPAEGVYKT YICVEKIIKQ
460 470 480 490 500
DILGFENTDL ETKDLGSEDS IPEEDDFGDV LWDIHDEQEQ METFQQASNS
510 520 530 540 550
AHELGFEKYY QRLNDLVAAP APIPPLLVSG GPGSGKSLLL SKWIQLQQKN
560 570 580 590 600
SPNTLILSHF VGRPMSTSSE SSLIIKRLTL KLMQHSWSVS ALTLDPAKLL
610 620 630 640 650
EEFPRWLEKL SARHQGSIII VIDSIDQVQQ VEKHMKWLID PLPVNVRVIV
660 670 680 690 700
SVNVETCPPA WRLWPTLHLD PLSPKDAKSI IIAECHSVDI KLSKEQEKKL
710 720 730 740 750
ERHCRSATTC NALYVTLFGK MIARAGRAGN LDKILHQCFQ CQDTLSLYRL
760 770 780 790 800
VLHSIRESMA NDVDKELMKQ ILCLVNVSHN GVSESELMEL YPEMSWTFLT
810 820 830 840 850
SLIHSLYKMC LLTYGCGLLR FQHLQAWETV RLEYLEGPTV TSSYRQKLIN
860 870 880 890 900
YFTLQLSQDR VTWRSADELP WLFQQQGSKQ KLHDCLLNLF VSQNLYKRGH
910 920 930 940 950
FAELLSYWQF VGKDKSAMAT EYFDSLKQYE KNCEGEDNMS CLADLYETLG
960 970 980 990 1000
RFLKDLGLLS QAIVPLQRSL EIRETALDPD HPRVAQSLHQ LASVYVQWKK
1010 1020 1030 1040 1050
FGNAEQLYKQ ALEISENAYG ADHPYTAREL EALATLYQKQ NKYEQAEHFR
1060 1070 1080 1090 1100
KKSFKIHQKA IKKKGNLYGF ALLRRRALQL EELTLGKDTP DNARTLNELG
1110 1120 1130 1140 1150
VLYYLQNNLE TADQFLKRSL EMRERVLGPD HPDCAQSLNN LAALCNEKKQ
1160 1170 1180 1190 1200
YDKAEELYER ALDIRRRALA PDHPSLAYTV KHLAILYKKM GKLDKAVPLY
1210 1220 1230 1240 1250
ELAVEIRQKS FGPKHPSVAT ALVNLAVLYS QMKKHVEALP LYERALKIYE
1260 1270 1280 1290 1300
DSLGRMHPRV GETLKNLAVL SYEGGDFEKA AELYKRAMEI KEAETSLLGG
1310 1320 1330
KAPSRHSSSG DTFSLKTAHS PNVFLQQGQR
Length:1,330
Mass (Da):150,864
Last modified:October 1, 2003 - 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:i99C1F17C9A5117F8
GO
Isoform 2 (identifier: Q7Z494-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-720: Missing.
     1330-1330: R → RKVQSNLLSPEGLSNICAQEKTTRFTSS

Note: No experimental confirmation available.
Show »
Length:637
Mass (Da):73,014
Checksum:iB12632DACE1A9058
GO
Isoform 3 (identifier: Q7Z494-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     630-636: QVEKHMK → VVAYTSS
     637-1330: Missing.

Show »
Length:636
Mass (Da):71,101
Checksum:i8960364D3DFD50EA
GO
Isoform 4 (identifier: Q7Z494-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     132-181: ALQKTYQKIL...FKIFRETKEN → VTPGWAATPG...HILFESEMIP
     182-1330: Missing.

Note: No experimental confirmation available.
Show »
Length:181
Mass (Da):19,138
Checksum:iF5B40DF9324E1D1E
GO
Isoform 5 (identifier: Q7Z494-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     224-239: AAGTQCEYWTGGALGS → VSLESDQHPGIFIANF
     240-1330: Missing.

Note: No experimental confirmation available.
Show »
Length:239
Mass (Da):26,342
Checksum:i05AFCF865C45DC45
GO
Isoform 6 (identifier: Q7Z494-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     697-704: EKKLERHC → CWESRQFR
     705-1330: Missing.

Show »
Length:704
Mass (Da):79,132
Checksum:i6C99314707B4ED2C
GO
Isoform 7 (identifier: Q7Z494-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     132-150: ALQKTYQKILREKESALEA → GLAAVARSRLTATWNSWAQ
     151-1330: Missing.

Note: No experimental confirmation available.
Show »
Length:150
Mass (Da):15,798
Checksum:i10593BB409D181B0
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YAM4H0YAM4_HUMAN
Nephrocystin-3
NPHP3
87Annotation 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>
F2Z3A8F2Z3A8_HUMAN
Nephrocystin-3
NPHP3
538Annotation 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>
A0A0C4DG93A0A0C4DG93_HUMAN
Nephrocystin-3
NPHP3
123Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB70891 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC02709 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAC04268 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti223T → TT in CAI46202 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022815360S → T in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs119456960EnsemblClinVar.1
Natural variantiVAR_022816386N → S in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs142021049EnsemblClinVar.1
Natural variantiVAR_022817397R → H in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs755094682Ensembl.1
Natural variantiVAR_044121973R → Q in RHPD1. 1 PublicationCorresponds to variant dbSNP:rs119456963EnsemblClinVar.1
Natural variantiVAR_0228181141L → P in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs1057521090EnsemblClinVar.1
Natural variantiVAR_0228191221A → V in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs202048210EnsemblClinVar.1
Natural variantiVAR_0228201252S → R in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs143451766EnsemblClinVar.1
Natural variantiVAR_0441221305R → C. Corresponds to variant dbSNP:rs35485382EnsemblClinVar.1
Natural variantiVAR_0228211314S → T in NPHP3. 1 PublicationCorresponds to variant dbSNP:rs75316802EnsemblClinVar.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_0144801 – 720Missing in isoform 2. 1 PublicationAdd BLAST720
Alternative sequenceiVSP_014482132 – 181ALQKT…ETKEN → VTPGWAATPGDPWEARPSCS LSKPSGFESSAETAHFNLRG HILFESEMIP in isoform 4. 1 PublicationAdd BLAST50
Alternative sequenceiVSP_014484132 – 150ALQKT…SALEA → GLAAVARSRLTATWNSWAQ in isoform 7. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_014485151 – 1330Missing in isoform 7. 1 PublicationAdd BLAST1180
Alternative sequenceiVSP_014483182 – 1330Missing in isoform 4. 1 PublicationAdd BLAST1149
Alternative sequenceiVSP_014486224 – 239AAGTQ…GALGS → VSLESDQHPGIFIANF in isoform 5. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_014487240 – 1330Missing in isoform 5. 1 PublicationAdd BLAST1091
Alternative sequenceiVSP_014488630 – 636QVEKHMK → VVAYTSS in isoform 3. 2 Publications7
Alternative sequenceiVSP_014489637 – 1330Missing in isoform 3. 2 PublicationsAdd BLAST694
Alternative sequenceiVSP_014490697 – 704EKKLERHC → CWESRQFR in isoform 6. 1 Publication8
Alternative sequenceiVSP_014491705 – 1330Missing in isoform 6. 1 PublicationAdd BLAST626
Alternative sequenceiVSP_0144811330R → RKVQSNLLSPEGLSNICAQE KTTRFTSS in isoform 2. 1 Publication1

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
AY257864 mRNA Translation: AAP83423.1
AY257865 mRNA Translation: AAP83424.1
AY257866 mRNA Translation: AAP83425.1
AB082531 mRNA Translation: BAC02709.1 Different initiation.
AK055253 mRNA Translation: BAB70891.1 Different initiation.
AK055893 mRNA Translation: BAB71038.1
AK094015 mRNA Translation: BAC04268.1 Different initiation.
AL832863 mRNA Translation: CAI46200.2
AL832877 Transcribed RNA Translation: CAI46202.1
CR749498 mRNA Translation: CAH18321.1
BC068082 mRNA Translation: AAH68082.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3078.1 [Q7Z494-1]

NCBI Reference Sequences

More...
RefSeqi
NP_694972.3, NM_153240.4 [Q7Z494-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000337331; ENSP00000338766; ENSG00000113971 [Q7Z494-1]
ENST00000383282; ENSP00000372769; ENSG00000113971 [Q7Z494-7]

Database of genes from NCBI RefSeq genomes

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GeneIDi
27031

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:27031

UCSC genome browser

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UCSCi
uc003epe.3 human [Q7Z494-1]

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
AY257864 mRNA Translation: AAP83423.1
AY257865 mRNA Translation: AAP83424.1
AY257866 mRNA Translation: AAP83425.1
AB082531 mRNA Translation: BAC02709.1 Different initiation.
AK055253 mRNA Translation: BAB70891.1 Different initiation.
AK055893 mRNA Translation: BAB71038.1
AK094015 mRNA Translation: BAC04268.1 Different initiation.
AL832863 mRNA Translation: CAI46200.2
AL832877 Transcribed RNA Translation: CAI46202.1
CR749498 mRNA Translation: CAH18321.1
BC068082 mRNA Translation: AAH68082.1
CCDSiCCDS3078.1 [Q7Z494-1]
RefSeqiNP_694972.3, NM_153240.4 [Q7Z494-1]

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5L7KX-ray2.10B2-7[»]
SMRiQ7Z494
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117962, 30 interactors
CORUMiQ7Z494
IntActiQ7Z494, 9 interactors
MINTiQ7Z494
STRINGi9606.ENSP00000338766

PTM databases

CarbonylDBiQ7Z494
iPTMnetiQ7Z494
PhosphoSitePlusiQ7Z494

Polymorphism and mutation databases

BioMutaiNPHP3
DMDMi68565783

Proteomic databases

EPDiQ7Z494
jPOSTiQ7Z494
MaxQBiQ7Z494
PaxDbiQ7Z494
PeptideAtlasiQ7Z494
PRIDEiQ7Z494
ProteomicsDBi69163
69164 [Q7Z494-2]
69165 [Q7Z494-3]
69166 [Q7Z494-4]
69167 [Q7Z494-5]
69168 [Q7Z494-6]
69169 [Q7Z494-7]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000337331; ENSP00000338766; ENSG00000113971 [Q7Z494-1]
ENST00000383282; ENSP00000372769; ENSG00000113971 [Q7Z494-7]
GeneIDi27031
KEGGihsa:27031
UCSCiuc003epe.3 human [Q7Z494-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
27031
DisGeNETi27031

GeneCards: human genes, protein and diseases

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GeneCardsi
NPHP3
GeneReviewsiNPHP3

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0003689
HIX0030824
HGNCiHGNC:7907 NPHP3
HPAiHPA009150
MalaCardsiNPHP3
MIMi208540 phenotype
267010 phenotype
604387 phenotype
608002 gene
neXtProtiNX_Q7Z494
OpenTargetsiENSG00000113971
ENSG00000274810
Orphaneti93591 Infantile nephronophthisis
93589 Late-onset nephronophthisis
3032 NPHP3-related Meckel-like syndrome
294415 Renal-hepatic-pancreatic dysplasia
3156 Senior-Loken syndrome
PharmGKBiPA31708

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1840 Eukaryota
COG0457 LUCA
GeneTreeiENSGT00940000156398
InParanoidiQ7Z494
KOiK19360
OMAiSMAAEYF
OrthoDBi69856at2759
PhylomeDBiQ7Z494
TreeFamiTF314010

Enzyme and pathway databases

ReactomeiR-HSA-5624138 Trafficking of myristoylated proteins to the cilium

Miscellaneous databases

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

More...
ChiTaRSi
NPHP3 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
NPHP3

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

More...
GenomeRNAii
27031

Protein Ontology

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PROi
PR:Q7Z494

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000113971 Expressed in 203 organ(s), highest expression level in female gonad
ExpressionAtlasiQ7Z494 baseline and differential
GenevisibleiQ7Z494 HS

Family and domain databases

Gene3Di1.25.40.10, 3 hits
InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PfamiView protein in Pfam
PF13176 TPR_7, 1 hit
SMARTiView protein in SMART
SM00028 TPR, 8 hits
SUPFAMiSSF48452 SSF48452, 2 hits
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50005 TPR, 8 hits
PS50293 TPR_REGION, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiNPHP3_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: Q7Z494
Secondary accession number(s): Q5JPE3
, Q5JPE6, Q68D99, Q6NVH3, Q7Z492, Q7Z493, Q8N9R2, Q8NCM5, Q96N70, Q96NK2
<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: July 5, 2005
Last sequence update: October 1, 2003
Last modified: May 8, 2019
This is version 147 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, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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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