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Entry version 167 (18 Sep 2019)
Sequence version 2 (05 Jul 2005)
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Protein

Inversin

Gene

INVS

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 renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic disheveled (DVL1) for degradation by the ubiquitin-proteasome. This suggests that it is required in renal development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling. Involved in the organization of apical junctions in kidney cells together with NPHP1, NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity).By similarity2 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

<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

Molecular functionCalmodulin-binding, Developmental protein
Biological processWnt signaling pathway

Enzyme and pathway databases

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

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SignaLinki
Q9Y283

SIGNOR Signaling Network Open Resource

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SIGNORi
Q9Y283

<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:
Inversin
Alternative name(s):
Inversion of embryo turning homolog
Nephrocystin-2
<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:INVS
Synonyms:INV, NPHP2
<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 9

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:17870 INVS

Online Mendelian Inheritance in Man (OMIM)

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MIMi
243305 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9Y283

<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, Cytoplasm, Cytoskeleton, Membrane, Microtubule, Nucleus

<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 2 (NPHP2)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 early onset and rapid progression. Phenotypic manifestations include enlarged kidneys, chronic tubulo-interstitial nephritis, anemia, hyperkalemic metabolic acidosis. Some patients also display situs inversus. Pathologically, it differs from later-onset nephronophthisis by the absence of medullary cysts and thickened tubular basement membranes, and by the presence of cortical microcysts.
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_022822482P → R in NPHP2. 1 Publication1
Natural variantiVAR_022823493L → S in NPHP2; impairs ability to target DVL1 for degradation. 1 PublicationCorresponds to variant dbSNP:rs121964995EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Nephronophthisis

Organism-specific databases

DisGeNET

More...
DisGeNETi
27130

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

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GeneReviewsi
INVS

MalaCards human disease database

More...
MalaCardsi
INVS
MIMi602088 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000119509

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

More...
Orphaneti
93591 Infantile nephronophthisis
3156 Senior-Loken syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38472

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
INVS

Domain mapping of disease mutations (DMDM)

More...
DMDMi
68565551

<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_00000670161 – 1065InversinAdd BLAST1065

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 residuei753-hydroxyasparagine1 Publication1
Modified residuei661PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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

May be ubiquitinated via its interaction with APC2.By similarity
Hydroxylated at Asn-75, most probably by HIF1AN.1 Publication

Keywords - PTMi

Hydroxylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9Y283

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9Y283

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9Y283

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

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PaxDbi
Q9Y283

PeptideAtlas

More...
PeptideAtlasi
Q9Y283

PRoteomics IDEntifications database

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PRIDEi
Q9Y283

ProteomicsDB human proteome resource

More...
ProteomicsDBi
85690 [Q9Y283-1]
85691 [Q9Y283-2]
85692 [Q9Y283-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9Y283

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

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PhosphoSitePlusi
Q9Y283

<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. Strongly expressed in the primary cilia of renal tubular cells.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000119509 Expressed in 156 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9Y283 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9Y283 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA049994

<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

Binds calmodulin via its IQ domains.

Interacts with APC2.

Interacts with alpha-, beta-, and gamma-catenin.

Interacts with N-cadherin (CDH2).

Interacts with microtubules (By similarity).

Interacts with NPHP1.

Interacts with DVL1, PRICKLE (PRICKLE1 or PRICKLE2) and Strabismus (VANGL1 or VANGL2).

Interacts with IQCB1; the interaction likely requires additional interactors.

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.

By similarity5 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

WithEntry#Exp.IntActNotes
B9D2Q9BPU94EBI-751472,EBI-6958971

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
118021, 14 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9Y283

Protein interaction database and analysis system

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IntActi
Q9Y283, 11 interactors

Molecular INTeraction database

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MINTi
Q9Y283

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000262457

<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
Q9Y283

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

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>Repeati13 – 42ANK 1Add BLAST30
Repeati47 – 76ANK 2Add BLAST30
Repeati80 – 110ANK 3Add BLAST31
Repeati113 – 144ANK 4Add BLAST32
Repeati148 – 177ANK 5Add BLAST30
Repeati181 – 213ANK 6Add BLAST33
Repeati220 – 250ANK 7Add BLAST31
Repeati254 – 283ANK 8Add BLAST30
Repeati288 – 317ANK 9Add BLAST30
Repeati321 – 350ANK 10Add BLAST30
Repeati356 – 385ANK 11Add BLAST30
Repeati389 – 418ANK 12Add BLAST30
Repeati422 – 451ANK 13Add BLAST30
Repeati455 – 484ANK 14Add BLAST30
Repeati488 – 517ANK 15Add BLAST30
Repeati523 – 553ANK 16Add BLAST31
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">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>Domaini555 – 584IQ 1PROSITE-ProRule annotationAdd BLAST30
Domaini916 – 945IQ 2PROSITE-ProRule annotationAdd BLAST30

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi490 – 498D-box 19
Motifi909 – 917D-box 29

<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 D-box 1 (destruction box 1) mediates the interaction with APC2, and may act as a recognition signal for degradation via the ubiquitin-proteasome pathway.By similarity

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0504 Eukaryota
COG0666 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157688

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9Y283

KEGG Orthology (KO)

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KOi
K19626

Identification of Orthologs from Complete Genome Data

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OMAi
DRWNREC

Database of Orthologous Groups

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OrthoDBi
907394at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9Y283

TreeFam database of animal gene trees

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TreeFami
TF312824

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.20, 4 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR000048 IQ_motif_EF-hand-BS

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00023 Ank, 3 hits
PF12796 Ank_2, 4 hits
PF00612 IQ, 2 hits

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR01415 ANKYRIN

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00248 ANK, 15 hits
SM00015 IQ, 2 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48403 SSF48403, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 11 hits
PS50096 IQ, 2 hits

<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 (3)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 3 <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
Isoform 1 (identifier: Q9Y283-1) [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
MNKSENLLFA GSSLASQVHA AAVNGDKGAL QRLIVGNSAL KDKEDQFGRT
60 70 80 90 100
PLMYCVLADR LDCADALLKA GADVNKTDHS QRTALHLAAQ KGNYRFMKLL
110 120 130 140 150
LTRRANWMQK DLEEMTPLHL TTRHRSPKCL ALLLKFMAPG EVDTQDKNKQ
160 170 180 190 200
TALHWSAYYN NPEHVKLLIK HDSNIGIPDV EGKIPLHWAA NHKDPSAVHT
210 220 230 240 250
VRCILDAAPT ESLLNWQDYE GRTPLHFAVA DGNVTVVDVL TSYESCNITS
260 270 280 290 300
YDNLFRTPLH WAALLGHAQI VHLLLERNKS GTIPSDSQGA TPLHYAAQSN
310 320 330 340 350
FAETVKVFLK HPSVKDDSDL EGRTSFMWAA GKGSDDVLRT MLSLKSDIDI
360 370 380 390 400
NMADKYGGTA LHAAALSGHV STVKLLLENN AQVDATDVMK HTPLFRACEM
410 420 430 440 450
GHKDVIQTLI KGGARVDLVD QDGHSLLHWA ALGGNADVCQ ILIENKINPN
460 470 480 490 500
VQDYAGRTPL QCAAYGGYIN CMAVLMENNA DPNIQDKEGR TALHWSCNNG
510 520 530 540 550
YLDAIKLLLD FAAFPNQMEN NEERYTPLDY ALLGERHEVI QFMLEHGALS
560 570 580 590 600
IAAIQDIAAF KIQAVYKGYK VRKAFRDRKN LLMKHEQLRK DAAAKKREEE
610 620 630 640 650
NKRKEAEQQK GRRSPDSCRP QALPCLPSTQ DVPSRQSRAP SKQPPAGNVA
660 670 680 690 700
QGPEPRDSRG SPGGSLGGAL QKEQHVSSDL QGTNSRRPNE TAREHSKGQS
710 720 730 740 750
ACVHFRPNEG SDGSRHPGVP SVEKSRGETA GDERCAKGKG FVKQPSCIRV
760 770 780 790 800
AGPDEKGEDS RRAAASLPPH DSHWKPSRRH DTEPKAKCAP QKRRTQELRG
810 820 830 840 850
GRCSPAGSSR PGSARGEAVH AGQNPPHHRT PRNKVTQAKL TGGLYSHLPQ
860 870 880 890 900
STEELRSGAR RLETSTLSED FQVSKETDPA PGPLSGQSVN IDLLPVELRL
910 920 930 940 950
QIIQRERRRK ELFRKKNKAA AVIQRAWRSY QLRKHLSHLR HMKQLGAGDV
960 970 980 990 1000
DRWRQESTAL LLQVWRKELE LKFPQTTAVS KAPKSPSKGT SGTKSTKHSV
1010 1020 1030 1040 1050
LKQIYGCSHE GKIHHPTRSV KASSVLRLNS VSNLQCIHLL ENSGRSKNFS
1060
YNLQSATQPK NKTKP
Length:1,065
Mass (Da):117,826
Last modified:July 5, 2005 - 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:iDACDF33C1B8573AC
GO
Isoform 2 (identifier: Q9Y283-2) [UniParc]FASTAAdd to basket
Also known as: S2

The sequence of this isoform differs from the canonical sequence as follows:
     727-896: Missing.

Show »
Length:895
Mass (Da):99,564
Checksum:i4604C8A1C03E40C6
GO
Isoform 3 (identifier: Q9Y283-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     92-101: GNYRFMKLLL → ALRTISTGRI
     102-1065: Missing.

Note: No experimental confirmation available.
Show »
Length:101
Mass (Da):10,748
Checksum:iC98F2838A19DFD5D
GO

<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 AAD02131 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH41665 differs from that shown. Contaminating sequence. Potential poly-A sequence.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 conflicti487K → Q in AAI11762 (PubMed:15489334).Curated1
Sequence conflicti764A → G in AAC79436 (PubMed:11941489).Curated1
Sequence conflicti764A → G in AAC79456 (PubMed:11941489).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_044119242S → L. Corresponds to variant dbSNP:rs2491097EnsemblClinVar.1
Natural variantiVAR_022822482P → R in NPHP2. 1 Publication1
Natural variantiVAR_022823493L → S in NPHP2; impairs ability to target DVL1 for degradation. 1 PublicationCorresponds to variant dbSNP:rs121964995EnsemblClinVar.1
Natural variantiVAR_044120888S → R. Corresponds to variant dbSNP:rs1052867Ensembl.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_01449592 – 101GNYRFMKLLL → ALRTISTGRI in isoform 3. 1 Publication10
Alternative sequenceiVSP_014496102 – 1065Missing in isoform 3. 1 PublicationAdd BLAST964
Alternative sequenceiVSP_014497727 – 896Missing in isoform 2. 1 PublicationAdd BLAST170

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF039217 mRNA Translation: AAD02131.2 Different initiation.
AF084367 mRNA Translation: AAC79436.1
AF084382
, AF084373, AF084374, AF084375, AF084377, AF084379, AF084381, AF084371, AF084369, AF084368, AF084370, AF084372, AF084380, AF084378, AF084376 Genomic DNA Translation: AAC79456.1
AF084382
, AF084368, AF084369, AF084370, AF084371, AF084372, AF084373, AF084374, AF084375, AF084376, AF084377, AF084378, AF084379, AF084380, AF084381 Genomic DNA Translation: AAC79457.1
AL137072 Genomic DNA No translation available.
AL445214 Genomic DNA No translation available.
AL356798 Genomic DNA No translation available.
CH471105 Genomic DNA Translation: EAW58926.1
BC006370 mRNA Translation: AAH06370.1
BC041665 mRNA Translation: AAH41665.1 Sequence problems.
BC111761 mRNA Translation: AAI11762.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS6746.1 [Q9Y283-1]

NCBI Reference Sequences

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RefSeqi
NP_055240.2, NM_014425.4 [Q9Y283-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000262456; ENSP00000262456; ENSG00000119509 [Q9Y283-2]
ENST00000262457; ENSP00000262457; ENSG00000119509 [Q9Y283-1]
ENST00000374921; ENSP00000364056; ENSG00000119509 [Q9Y283-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
27130

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:27130

UCSC genome browser

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UCSCi
uc004bao.3 human [Q9Y283-1]

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
AF039217 mRNA Translation: AAD02131.2 Different initiation.
AF084367 mRNA Translation: AAC79436.1
AF084382
, AF084373, AF084374, AF084375, AF084377, AF084379, AF084381, AF084371, AF084369, AF084368, AF084370, AF084372, AF084380, AF084378, AF084376 Genomic DNA Translation: AAC79456.1
AF084382
, AF084368, AF084369, AF084370, AF084371, AF084372, AF084373, AF084374, AF084375, AF084376, AF084377, AF084378, AF084379, AF084380, AF084381 Genomic DNA Translation: AAC79457.1
AL137072 Genomic DNA No translation available.
AL445214 Genomic DNA No translation available.
AL356798 Genomic DNA No translation available.
CH471105 Genomic DNA Translation: EAW58926.1
BC006370 mRNA Translation: AAH06370.1
BC041665 mRNA Translation: AAH41665.1 Sequence problems.
BC111761 mRNA Translation: AAI11762.1
CCDSiCCDS6746.1 [Q9Y283-1]
RefSeqiNP_055240.2, NM_014425.4 [Q9Y283-1]

3D structure databases

SMRiQ9Y283
ModBaseiSearch...

Protein-protein interaction databases

BioGridi118021, 14 interactors
CORUMiQ9Y283
IntActiQ9Y283, 11 interactors
MINTiQ9Y283
STRINGi9606.ENSP00000262457

PTM databases

iPTMnetiQ9Y283
PhosphoSitePlusiQ9Y283

Polymorphism and mutation databases

BioMutaiINVS
DMDMi68565551

Proteomic databases

EPDiQ9Y283
jPOSTiQ9Y283
MassIVEiQ9Y283
PaxDbiQ9Y283
PeptideAtlasiQ9Y283
PRIDEiQ9Y283
ProteomicsDBi85690 [Q9Y283-1]
85691 [Q9Y283-2]
85692 [Q9Y283-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262456; ENSP00000262456; ENSG00000119509 [Q9Y283-2]
ENST00000262457; ENSP00000262457; ENSG00000119509 [Q9Y283-1]
ENST00000374921; ENSP00000364056; ENSG00000119509 [Q9Y283-3]
GeneIDi27130
KEGGihsa:27130
UCSCiuc004bao.3 human [Q9Y283-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
27130
DisGeNETi27130

GeneCards: human genes, protein and diseases

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GeneCardsi
INVS
GeneReviewsiINVS
HGNCiHGNC:17870 INVS
HPAiHPA049994
MalaCardsiINVS
MIMi243305 gene
602088 phenotype
neXtProtiNX_Q9Y283
OpenTargetsiENSG00000119509
Orphaneti93591 Infantile nephronophthisis
3156 Senior-Loken syndrome
PharmGKBiPA38472

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00940000157688
InParanoidiQ9Y283
KOiK19626
OMAiDRWNREC
OrthoDBi907394at2759
PhylomeDBiQ9Y283
TreeFamiTF312824

Enzyme and pathway databases

SignaLinkiQ9Y283
SIGNORiQ9Y283

Miscellaneous databases

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

More...
ChiTaRSi
INVS human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
INVS

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

More...
GenomeRNAii
27130

Pharos

More...
Pharosi
Q9Y283

Protein Ontology

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PROi
PR:Q9Y283

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000119509 Expressed in 156 organ(s), highest expression level in corpus callosum
ExpressionAtlasiQ9Y283 baseline and differential
GenevisibleiQ9Y283 HS

Family and domain databases

Gene3Di1.25.40.20, 4 hits
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR000048 IQ_motif_EF-hand-BS
PfamiView protein in Pfam
PF00023 Ank, 3 hits
PF12796 Ank_2, 4 hits
PF00612 IQ, 2 hits
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 15 hits
SM00015 IQ, 2 hits
SUPFAMiSSF48403 SSF48403, 2 hits
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 11 hits
PS50096 IQ, 2 hits

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 nameiINVS_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: Q9Y283
Secondary accession number(s): A2A2Y2
, Q2NKL0, Q5W0T6, Q8IVX8, Q9BRB9, Q9Y488, Q9Y498
<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: July 5, 2005
Last modified: September 18, 2019
This is version 167 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 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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