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UniProtKB - O95876 (FRITZ_HUMAN)

Entry version 134 (02 Dec 2020)
Sequence version 2 (18 Mar 2008)
Previous versions | rss
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Protein

WD repeat-containing and planar cell polarity effector protein fritz homolog

Gene

WDPCP

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

Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements. Together with FUZ and WDPCP proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies (By similarity).By similarity

Caution

It is uncertain whether Met-1 or Met-34 is the initiator.Curated

<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

Complete GO annotation on QuickGO ...

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

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O95876

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
WD repeat-containing and planar cell polarity effector protein fritz homolog
Short name:
hFRTZ
Alternative name(s):
Bardet-Biedl syndrome 15 protein
WD repeat-containing and planar cell polarity effector protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:WDPCP
Synonyms:BBS15, C2orf86, FRITZ
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000143951.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:28027, WDPCP

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		613580, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O95876

<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 membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Membrane

<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

Bardet-Biedl syndrome 15 (BBS15)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
Related information in OMIM
Congenital heart defects, hamartomas of tongue, and polysyndactyly (CHDTHP)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by a constellation of anomalies including tongue hamartomas, polysyndactyly, and congenital heart defects such as atrioventricular canal and coarctation of the aorta.
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_07325154D → N in CHDTHP; impairs protein stability. 2 PublicationsCorresponds to variant dbSNP:rs200322968EnsemblClinVar.1
Mutations in WDPCP may act as modifiers of the phenotypic expression of Bardet-Biedl syndrome and Meckel syndrome by interacting in trans with primary BBS and MKS loci.1 Publication

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Mental retardation, Obesity

Organism-specific databases

DisGeNET

More...DisGeNETi		51057

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

More...GeneReviewsi		WDPCP

MalaCards human disease database

More...MalaCardsi		WDPCP
MIMi217085, phenotype
615992, phenotype

Open Targets

More...OpenTargetsi		ENSG00000143951

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

More...Orphaneti		110, Bardet-Biedl syndrome
1338, Heart defect-tongue hamartoma-polysyndactyly syndrome
564, Meckel syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA164717186

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O95876, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		WDPCP

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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003258021 – 746WD repeat-containing and planar cell polarity effector protein fritz homologAdd BLAST746

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O95876

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O95876

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

More...PaxDbi		O95876

PeptideAtlas

More...PeptideAtlasi		O95876

PRoteomics IDEntifications database

More...PRIDEi		O95876

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		51114 [O95876-1]
51115 [O95876-2]
51116 [O95876-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O95876

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

More...PhosphoSitePlusi		O95876

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000143951, Expressed in nasal cavity epithelium and 221 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O95876, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O95876, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000143951, Low tissue specificity

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

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

Interacts with CPLANE1.

Interacts with INTU and FUZ; FUZ, INTU and WDPCP probably form the core CPLANE (ciliogenesis and planar polarity effectors) complex.

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		119249, 1 interactor

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-5001, CPLANE complex

Protein interaction database and analysis system

More...IntActi		O95876, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000272321

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O95876, protein

<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>Repeati326 – 374WD 1Add BLAST49
Repeati375 – 414WD 2Add BLAST40

<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 WD repeat fritz family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QR8Y, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000016551

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_004917_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O95876

Identification of Orthologs from Complete Genome Data

More...OMAi		CVYECAR

Database of Orthologous Groups

More...OrthoDBi		692945at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O95876

TreeFam database of animal gene trees

More...TreeFami		TF323483

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.130.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR024511, Frtz
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR036322, WD40_repeat_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR13667, PTHR13667, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF11768, Frtz, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50978, SSF50978, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

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

This entry describes 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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O95876-1) [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
MRREFCWDAY SKAAGSRASS PLPRQDRDSF CHQMSFCLTE LHLWSLKNTL 
        60         70         80         90        100
HIADRDIGIY QYYDKKDPPA TEHGNLEKKQ KLAESRDYPW TLKNRRPEKL 
       110        120        130        140        150
RDSLKELEEL MQNSRCVLSK WKNKYVCQLL FGSGVLVSLS LSGPQLEKVV 
       160        170        180        190        200
IDRSLVGKLI SDTISDALLT DSFIILSFLA QNKLCFIQFT KKMESSDVNK 
       210        220        230        240        250
RLEKLSALDY KIFYYEIPGP INKTTERHLA INCVHDRVVC WWPLVNDDAW 
       260        270        280        290        300
PWAPISSEKD RANLLLLGYA QGRLEVLSSV RTEWDPLDVR FGTKQPYQVF 
       310        320        330        340        350
TVEHSVSVDK EPMADSCIYE CIRNKIQCVS VTRIPLKSKA ISCCRNVTED 
       360        370        380        390        400
KLILGCEDSS LILYETHRRV TLLAQTELLP SLISCHPSGA ILLVGSNQGE 
       410        420        430        440        450
LQIFDMALSP INIQLLAEDR LPRETLQFSK LFDASSSLVQ MQWIAPQVVS 
       460        470        480        490        500
QKGEGSDIYD LLFLRFERGP LGVLLFKLGV FTRGQLGLID IIFQYIHCDE 
       510        520        530        540        550
IYEAINILSS MNWDTLGHQC FISMSAIVNH LLRQKLTPER EAQLETSLGT 
       560        570        580        590        600
FYAPTRPLLD STILEYRDQI SKYARRFFHH LLRYQRFEKA FLLAVDVGAR 
       610        620        630        640        650
DLFMDIHYLA LDKGELALAE VARKRASDID AESITSGVEL LGPLDRGDML 
       660        670        680        690        700
NEAFIGLSLA PQGEDSFPDN LPPSCPTHRH ILQQRILNGS SNRQIIDRRN 
       710        720        730        740 
ELEKDICSGF LMTNTCNAED GELREDGREQ EIRDGGSLKM IHFGLV
Length:746
Mass (Da):85,084
Last modified:March 18, 2008 - 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:i585EFED0D93EB3D4
GO
Isoform 2 (identifier: O95876-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     605-618: DIHYLALDKGELAL → ASCYLTSNYTTRLQ
     619-746: Missing.

Show »
Length:618
Mass (Da):71,020
Checksum:i27D2487D6867E308
GO
Isoform 3 (identifier: O95876-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-166: MRREFCWDAY...GKLISDTISD → MFSSLHS

Show »
Length:587
Mass (Da):66,655
Checksum:i1F9B84EEAC6EA4E7
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C375H7C375_HUMAN
WD repeat-containing and planar cel...
WDPCP
132Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BZ13H7BZ13_HUMAN
WD repeat-containing and planar cel...
WDPCP
402Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PFG9E9PFG9_HUMAN
WD repeat-containing and planar cel...
WDPCP
554Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JDS5C9JDS5_HUMAN
WD repeat-containing and planar cel...
WDPCP
84Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WBT2F8WBT2_HUMAN
WD repeat-containing and planar cel...
WDPCP
46Annotation 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>
A0A1D5RMS8A0A1D5RMS8_HUMAN
WD repeat-containing and planar cel...
WDPCP
8Annotation 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_07325154D → N in CHDTHP; impairs protein stability. 2 PublicationsCorresponds to variant dbSNP:rs200322968EnsemblClinVar.1
Natural variantiVAR_06477055R → K in a patient with Meckel syndrome compound heterozygous for mutations in CC2D2A. 1 PublicationCorresponds to variant dbSNP:rs267606693EnsemblClinVar.1
Natural variantiVAR_064771205L → F in a patient with Bardet-Biedl syndrome compound heterozygous for mutations in BBS12. 1 Publication1
Natural variantiVAR_039919268G → S. Corresponds to variant dbSNP:rs17617459EnsemblClinVar.1
Natural variantiVAR_064772708S → F1 Publication1

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_0324081 – 166MRREF…DTISD → MFSSLHS in isoform 3. 2 PublicationsAdd BLAST166
Alternative sequenceiVSP_032409605 – 618DIHYL…GELAL → ASCYLTSNYTTRLQ in isoform 2. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_032410619 – 746Missing in isoform 2. 1 PublicationAdd BLAST128

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF131737 mRNA Translation: AAD20026.1
BX538331 mRNA Translation: CAD98100.1
AC079353 Genomic DNA Translation: AAY24034.1
AC009501 Genomic DNA No translation available.
AC067953 Genomic DNA No translation available.
AC074367 Genomic DNA No translation available.
BC093752 mRNA Translation: AAH93752.1
BC093754 mRNA Translation: AAH93754.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS42688.1 [O95876-1]
CCDS46301.1 [O95876-3]

NCBI Reference Sequences

More...RefSeqi		NP_001036157.1, NM_001042692.2 [O95876-3]
NP_056994.3, NM_015910.5 [O95876-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000272321; ENSP00000272321; ENSG00000143951 [O95876-1]
ENST00000398544; ENSP00000381552; ENSG00000143951 [O95876-3]
ENST00000409562; ENSP00000387222; ENSG00000143951 [O95876-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		51057

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:51057

UCSC genome browser

More...UCSCi		uc002scf.4, human [O95876-1]

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
AF131737 mRNA Translation: AAD20026.1
BX538331 mRNA Translation: CAD98100.1
AC079353 Genomic DNA Translation: AAY24034.1
AC009501 Genomic DNA No translation available.
AC067953 Genomic DNA No translation available.
AC074367 Genomic DNA No translation available.
BC093752 mRNA Translation: AAH93752.1
BC093754 mRNA Translation: AAH93754.1
CCDSiCCDS42688.1 [O95876-1]
CCDS46301.1 [O95876-3]
RefSeqiNP_001036157.1, NM_001042692.2 [O95876-3]
NP_056994.3, NM_015910.5 [O95876-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi119249, 1 interactor
ComplexPortaliCPX-5001, CPLANE complex
IntActiO95876, 1 interactor
STRINGi9606.ENSP00000272321

PTM databases

iPTMnetiO95876
PhosphoSitePlusiO95876

Polymorphism and mutation databases

BioMutaiWDPCP

Proteomic databases

jPOSTiO95876
MassIVEiO95876
PaxDbiO95876
PeptideAtlasiO95876
PRIDEiO95876
ProteomicsDBi51114 [O95876-1]
51115 [O95876-2]
51116 [O95876-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		47438, 98 antibodies

Genome annotation databases

EnsembliENST00000272321; ENSP00000272321; ENSG00000143951 [O95876-1]
ENST00000398544; ENSP00000381552; ENSG00000143951 [O95876-3]
ENST00000409562; ENSP00000387222; ENSG00000143951 [O95876-2]
GeneIDi51057
KEGGihsa:51057
UCSCiuc002scf.4, human [O95876-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		51057
DisGeNETi51057
EuPathDBiHostDB:ENSG00000143951.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		WDPCP
GeneReviewsiWDPCP
HGNCiHGNC:28027, WDPCP
HPAiENSG00000143951, Low tissue specificity
MalaCardsiWDPCP
MIMi217085, phenotype
613580, gene
615992, phenotype
neXtProtiNX_O95876
OpenTargetsiENSG00000143951
Orphaneti110, Bardet-Biedl syndrome
1338, Heart defect-tongue hamartoma-polysyndactyly syndrome
564, Meckel syndrome
PharmGKBiPA164717186

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QR8Y, Eukaryota
GeneTreeiENSGT00390000016551
HOGENOMiCLU_004917_1_0_1
InParanoidiO95876
OMAiCVYECAR
OrthoDBi692945at2759
PhylomeDBiO95876
TreeFamiTF323483

Enzyme and pathway databases

PathwayCommonsiO95876

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		51057, 3 hits in 843 CRISPR screens

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

More...ChiTaRSi		WDPCP, human

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

More...GenomeRNAii		51057
PharosiO95876, Tbio

Protein Ontology

More...PROi		PR:O95876
RNActiO95876, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000143951, Expressed in nasal cavity epithelium and 221 other tissues
ExpressionAtlasiO95876, baseline and differential
GenevisibleiO95876, HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR024511, Frtz
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR036322, WD40_repeat_dom_sf
PANTHERiPTHR13667, PTHR13667, 1 hit
PfamiView protein in Pfam
PF11768, Frtz, 1 hit
SUPFAMiSSF50978, SSF50978, 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 nameiFRITZ_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: O95876
Secondary accession number(s): Q53RW4, Q7Z2Z3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 18, 2008
Last modified: December 2, 2020
This is version 134 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

Reference proteome

Documents

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