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UniProtKB - O43379 (WDR62_HUMAN)

Entry version 172 (07 Apr 2021)
Sequence version 4 (05 Oct 2010)
Previous versions | rss
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Protein

WD repeat-containing protein 62

Gene

WDR62

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 cerebral cortical development. Plays a role in neuronal proliferation and migration (PubMed:20890278, PubMed:20729831). Plays a role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and CEP63 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806).3 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 - 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 processNeurogenesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O43379

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

More...SignaLinki		O43379

<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 protein 62
<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:WDR62
Synonyms:C19orf14
<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 19

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:24502, WDR62

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		613583, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O43379

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000075702.16

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

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, 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

Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disease characterized by microcephaly, moderate to severe mental retardation, and various type of cortical malformations in most patients. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Cortical malformations include pachygyria with cortical thickening, microgyria, lissencephaly, hypoplasia of the corpus callosum, schizencephaly. All affected individuals have delayed psychomotor development. Some patients have seizures.
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_06584365V → M in MCPH2. 2 PublicationsCorresponds to variant dbSNP:rs387907084EnsemblClinVar.1
Natural variantiVAR_063702224W → S in MCPH2. 1 PublicationCorresponds to variant dbSNP:rs267607176EnsemblClinVar.1
Natural variantiVAR_065844438R → H in MCPH2; the mutant protein does not localize to the spindle pole during mitosis. 1 PublicationCorresponds to variant dbSNP:rs387907082EnsemblClinVar.1
Natural variantiVAR_065845511D → N in MCPH2. 1 PublicationCorresponds to variant dbSNP:rs387907083EnsemblClinVar.1
Natural variantiVAR_063703526E → K in MCPH2. 1 PublicationCorresponds to variant dbSNP:rs147875659EnsemblClinVar.1
Isoform 4 (identifier: O43379-4)
Natural variantiVAR_0829351078A → T in MCPH2; uncertain pathological significance. CuratedCorresponds to variant dbSNP:rs373781801Ensembl.1

Keywords - Diseasei

Disease variant, Mental retardation, Primary microcephaly

Organism-specific databases

DisGeNET

More...DisGeNETi		284403

MalaCards human disease database

More...MalaCardsi		WDR62
MIMi604317, phenotype

Open Targets

More...OpenTargetsi		ENSG00000075702

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

More...Orphaneti		2512, Autosomal recessive primary microcephaly

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134963627

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O43379, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		WDR62

<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%5Fprocessing%5Fsection">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 methionineiRemovedCombined sources
<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_00002818792 – 1518WD repeat-containing protein 62Add BLAST1517

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 residuei2N-acetylalanineCombined sources1
Modified residuei33PhosphoserineCombined sources1
Modified residuei46PhosphothreonineCombined sources1
Modified residuei49PhosphoserineCombined sources1
Modified residuei50PhosphothreonineCombined sources1
Modified residuei52PhosphoserineCombined sources1
Modified residuei501PhosphoserineCombined sources1
Modified residuei944PhosphoserineBy similarity1
Modified residuei1053PhosphothreonineCombined sources1
Modified residuei1070PhosphoserineCombined sources1
Modified residuei1093PhosphoserineCombined sources1
Modified residuei1101PhosphoserineCombined sources1
Modified residuei1123PhosphoserineCombined sources1
Modified residuei1144PhosphoserineCombined sources1
Modified residuei1228PhosphoserineCombined sources1
Modified residuei1248PhosphoserineCombined sources1
Modified residuei1249PhosphoserineCombined sources1
Modified residuei1268PhosphothreonineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O43379

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O43379

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O43379

MaxQB - The MaxQuant DataBase

More...MaxQBi		O43379

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

More...PaxDbi		O43379

PeptideAtlas

More...PeptideAtlasi		O43379

PRoteomics IDEntifications database

More...PRIDEi		O43379

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		48915 [O43379-1]
48916 [O43379-2]
48917 [O43379-3]
48918 [O43379-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O43379

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

More...PhosphoSitePlusi		O43379

<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

Present in fetal brain, enriched within the ventricular and subventricular zone (at protein level). In the embryonic brain it is expressed in mitotic neural precursor cells.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000075702, Expressed in right testis and 201 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O43379, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O43379, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000075702, Group enriched (skeletal muscle, testis)

<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

Can form homodimers (via C-terminus) (PubMed:23341463).

Interacts (via C-terminus) with MAPKBP1 (via C-terminus) (PubMed:23341463, PubMed:28089251).

Interacts with CDK5RAP2, CEP152, CEP63 and KIAA0753 (PubMed:26297806). CEP63, CDK5RAP2, CEP152, WDR62 are proposed to form a stepwise assembled complex at the centrosome forming a ring near parental centrioles (PubMed:26297806).

3 Publications

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

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		129863, 68 interactors

Database of interacting proteins

More...DIPi		DIP-56792N

Protein interaction database and analysis system

More...IntActi		O43379, 58 interactors

Molecular INTeraction database

More...MINTi		O43379

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000384792

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O43379, 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>Repeati109 – 150WD 1Add BLAST42
Repeati153 – 194WD 2Add BLAST42
Repeati196 – 234WD 3Add BLAST39
Repeati291 – 330WD 4Add BLAST40
Repeati357 – 396WD 5Add BLAST40
Repeati402 – 450WD 6Add BLAST49
Repeati490 – 529WD 7Add BLAST40
Repeati532 – 574WD 8Add BLAST43
Repeati578 – 618WD 9Add BLAST41
Repeati626 – 665WD 10Add BLAST40
Repeati671 – 713WD 11Add BLAST43
Repeati714 – 752WD 12Add BLAST39
Repeati803 – 846WD 13Add BLAST44
Repeati1132 – 1173WD 14Add BLAST42
Repeati1255 – 1293WD 15Add BLAST39

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1408, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160719

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_056306_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O43379

Identification of Orthologs from Complete Genome Data

More...OMAi		HTFPPRA

Database of Orthologous Groups

More...OrthoDBi		1017450at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O43379

TreeFam database of animal gene trees

More...TreeFami		TF323254

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.130.10.10, 3 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR024977, Apc4_WD40_dom
IPR011047, Quinoprotein_ADH-like_supfam
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR017986, WD40_repeat_dom
IPR036322, WD40_repeat_dom_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF12894, ANAPC4_WD40, 1 hit
PF00400, WD40, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00320, WD40, 12 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50978, SSF50978, 1 hit
SSF50998, SSF50998, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50082, WD_REPEATS_2, 1 hit
PS50294, WD_REPEATS_REGION, 3 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

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

<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 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 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. 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 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O43379-1) [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
MAAVGSGGYA RNDAGEKLPS VMAGVPARRG QSSPPPAPPI CLRRRTRLST 
        60         70         80         90        100
ASEETVQNRV SLEKVLGITA QNSSGLTCDP GTGHVAYLAG CVVVILDPKE 
       110        120        130        140        150
NKQQHIFNTA RKSLSALAFS PDGKYIVTGE NGHRPAVRIW DVEEKNQVAE 
       160        170        180        190        200
MLGHKYGVAC VAFSPNMKHI VSMGYQHDMV LNVWDWKKDI VVASNKVSCR 
       210        220        230        240        250
VIALSFSEDS SYFVTVGNRH VRFWFLEVST ETKVTSTVPL VGRSGILGEL 
       260        270        280        290        300
HNNIFCGVAC GRGRMAGSTF CVSYSGLLCQ FNEKRVLEKW INLKVSLSSC 
       310        320        330        340        350
LCVSQELIFC GCTDGIVRIF QAHSLHYLAN LPKPHYLGVD VAQGLEPSFL 
       360        370        380        390        400
FHRKAEAVYP DTVALTFDPI HQWLSCVYKD HSIYIWDVKD INRVGKVWSE 
       410        420        430        440        450
LFHSSYVWNV EVYPEFEDQR ACLPSGSFLT CSSDNTIRFW NLDSSPDSHW 
       460        470        480        490        500
QKNIFSNTLL KVVYVENDIQ HLQDMSHFPD RGSENGTPMD VKAGVRVMQV 
       510        520        530        540        550
SPDGQHLASG DRSGNLRIHE LHFMDELVKV EAHDAEVLCL EYSKPETGLT 
       560        570        580        590        600
LLASASRDRL IHVLNVEKNY NLEQTLDDHS SSITAIKFAG NRDIQMISCG 
       610        620        630        640        650
ADKSIYFRSA QQGSDGLHFV RTHHVAEKTT LYDMDIDITQ KYVAVACQDR 
       660        670        680        690        700
NVRVYNTVNG KQKKCYKGSQ GDEGSLLKVH VDPSGTFLAT SCSDKSISVI 
       710        720        730        740        750
DFYSGECIAK MFGHSEIITS MKFTYDCHHL ITVSGDSCVF IWHLGPEITN 
       760        770        780        790        800
CMKQHLLEID HRQQQQHTND KKRSGHPRQD TYVSTPSEIH SLSPGEQTED 
       810        820        830        840        850
DLEEECEPEE MLKTPSKDSL DPDPRCLLTN GKLPLWAKRL LGDDDVADGL 
       860        870        880        890        900
AFHAKRSYQP HGRWAERAGQ EPLKTILDAQ DLDCYFTPMK PESLENSILD 
       910        920        930        940        950
SLEPQSLASL LSESESPQEA GRGHPSFLPQ QKESSEASEL ILYSLEAEVT 
       960        970        980        990       1000
VTGTDSQYCR KEVEAGPGDQ QGDSYLRVSS DSPKDQSPPE DSGESEADLE 
      1010       1020       1030       1040       1050
CSFAAIHSPA PPPDPAPRFA TSLPHFPGCA GPTEDELSLP EGPSVPSSSL 
      1060       1070       1080       1090       1100
PQTPEQEKFL RHHFETLTES PCRALGDVEA SEAEDHFFNP RLSISTQFLS 
      1110       1120       1130       1140       1150
SLQKASRFTH TFPPRATQCL VKSPEVKLMD RGGSQPRAGT GYASPDRTHV 
      1160       1170       1180       1190       1200
LAAGKAEETL EAWRPPPPCL TSLASCVPAS SVLPTDRNLP TPTSAPTPGL 
      1210       1220       1230       1240       1250
AQGVHAPSTC SYMEATASSR ARISRSISLG DSEGPIVATL AQPLRRPSSV 
      1260       1270       1280       1290       1300
GELASLGQEL QAITTATTPS LDSEGQEPAL RSWGNHEARA NLRLTLSSAC 
      1310       1320       1330       1340       1350
DGLLQPPVDT QPGVTVPAVS FPAPSPVEES ALRLHGSAFR PSLPAPESPG 
      1360       1370       1380       1390       1400
LPAHPSNPQL PEARPGIPGG TASLLEPTSG ALGLLQGSPA RWSEPWVPVE 
      1410       1420       1430       1440       1450
ALPPSPLELS RVGNILHRLQ TTFQEALDLY RVLVSSGQVD TGQQQARTEL 
      1460       1470       1480       1490       1500
VSTFLWIHSQ LEAECLVGTS VAPAQALPSP GPPSPPTLYP LASPDLQALL 
      1510 
EHYSELLVQA VRRKARGH
Length:1,518
Mass (Da):165,954
Last modified:October 5, 2010 - v4
<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:i6E60A95B5774EF18
GO
Isoform 2 (identifier: O43379-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     458-483: TLLKVVYVENDIQHLQDMSHFPDRGS → LAPALQMCGRGHSRQPNTPSPGEIAS
     484-1518: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:483
Mass (Da):53,449
Checksum:i39ED04847DFE1BE2
GO
Isoform 3 (identifier: O43379-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     412-414: VYP → ALS
     415-1518: Missing.

Show »
Length:414
Mass (Da):45,740
Checksum:i598CF0B355B2F3EE
GO
Isoform 4 (identifier: O43379-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1073-1073: R → RELFPA

Show »
Length:1,523
Mass (Da):166,511
Checksum:iD970D15105708A8E
GO

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

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C3R4H7C3R4_HUMAN
WD repeat-containing protein 62
WDR62
318Annotation 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>
A0A2R8YD43A0A2R8YD43_HUMAN
WD repeat-containing protein 62
WDR62
347Annotation 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 AAC27979 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence AAH17261 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 conflicti370I → T in BAC03488 (PubMed:14702039).Curated1
Sequence conflicti1174Missing in CAH56390 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06584365V → M in MCPH2. 2 PublicationsCorresponds to variant dbSNP:rs387907084EnsemblClinVar.1
Natural variantiVAR_063702224W → S in MCPH2. 1 PublicationCorresponds to variant dbSNP:rs267607176EnsemblClinVar.1
Natural variantiVAR_055014289K → R. Corresponds to variant dbSNP:rs12327568EnsemblClinVar.1
Natural variantiVAR_065844438R → H in MCPH2; the mutant protein does not localize to the spindle pole during mitosis. 1 PublicationCorresponds to variant dbSNP:rs387907082EnsemblClinVar.1
Natural variantiVAR_065845511D → N in MCPH2. 1 PublicationCorresponds to variant dbSNP:rs387907083EnsemblClinVar.1
Natural variantiVAR_063703526E → K in MCPH2. 1 PublicationCorresponds to variant dbSNP:rs147875659EnsemblClinVar.1
Natural variantiVAR_031299850L → S2 PublicationsCorresponds to variant dbSNP:rs2285745EnsemblClinVar.1
Natural variantiVAR_0550151305Q → L2 PublicationsCorresponds to variant dbSNP:rs2074435Ensembl.1
Natural variantiVAR_0576291311Q → E. Corresponds to variant dbSNP:rs35811023Ensembl.1
Natural variantiVAR_0313001370G → S1 PublicationCorresponds to variant dbSNP:rs17851503Ensembl.1
Natural variantiVAR_0313011385L → F3 PublicationsCorresponds to variant dbSNP:rs1008328Ensembl.1
Isoform 4 (identifier: O43379-4)
Natural variantiVAR_0829351078A → T in MCPH2; uncertain pathological significance. CuratedCorresponds to variant dbSNP:rs373781801Ensembl.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_024077412 – 414VYP → ALS in isoform 3. 1 Publication3
Alternative sequenceiVSP_024078415 – 1518Missing in isoform 3. 1 PublicationAdd BLAST1104
Alternative sequenceiVSP_024079458 – 483TLLKV…PDRGS → LAPALQMCGRGHSRQPNTPS PGEIAS in isoform 2. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_024080484 – 1518Missing in isoform 2. 1 PublicationAdd BLAST1035
Alternative sequenceiVSP_0399061073R → RELFPA in isoform 4. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AK090617 mRNA Translation: BAC03488.1
BX647726 mRNA Translation: CAH56191.1
AL133651 mRNA Translation: CAH56390.1
AD000813 Genomic DNA No translation available.
AC004144 Genomic DNA Translation: AAC27979.1 Sequence problems.
BC017261 mRNA Translation: AAH17261.1 Different initiation.
BC058939 mRNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS33001.1 [O43379-1]
CCDS46059.1 [O43379-4]

Protein sequence database of the Protein Information Resource

More...PIRi		T01437

NCBI Reference Sequences

More...RefSeqi		NP_001077430.1, NM_001083961.1 [O43379-4]
NP_775907.4, NM_173636.4 [O43379-1]
XP_016882154.1, XM_017026665.1 [O43379-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000270301; ENSP00000270301; ENSG00000075702 [O43379-1]
ENST00000401500; ENSP00000384792; ENSG00000075702 [O43379-4]
ENST00000587391; ENSP00000465525; ENSG00000075702 [O43379-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		284403

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:284403

UCSC genome browser

More...UCSCi		uc002odc.3, human [O43379-1]

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
AK090617 mRNA Translation: BAC03488.1
BX647726 mRNA Translation: CAH56191.1
AL133651 mRNA Translation: CAH56390.1
AD000813 Genomic DNA No translation available.
AC004144 Genomic DNA Translation: AAC27979.1 Sequence problems.
BC017261 mRNA Translation: AAH17261.1 Different initiation.
BC058939 mRNA No translation available.
CCDSiCCDS33001.1 [O43379-1]
CCDS46059.1 [O43379-4]
PIRiT01437
RefSeqiNP_001077430.1, NM_001083961.1 [O43379-4]
NP_775907.4, NM_173636.4 [O43379-1]
XP_016882154.1, XM_017026665.1 [O43379-4]

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

BioGRIDi129863, 68 interactors
DIPiDIP-56792N
IntActiO43379, 58 interactors
MINTiO43379
STRINGi9606.ENSP00000384792

PTM databases

iPTMnetiO43379
PhosphoSitePlusiO43379

Genetic variation databases

BioMutaiWDR62

Proteomic databases

EPDiO43379
jPOSTiO43379
MassIVEiO43379
MaxQBiO43379
PaxDbiO43379
PeptideAtlasiO43379
PRIDEiO43379
ProteomicsDBi48915 [O43379-1]
48916 [O43379-2]
48917 [O43379-3]
48918 [O43379-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		29678, 53 antibodies

The DNASU plasmid repository

More...DNASUi		284403

Genome annotation databases

EnsembliENST00000270301; ENSP00000270301; ENSG00000075702 [O43379-1]
ENST00000401500; ENSP00000384792; ENSG00000075702 [O43379-4]
ENST00000587391; ENSP00000465525; ENSG00000075702 [O43379-2]
GeneIDi284403
KEGGihsa:284403
UCSCiuc002odc.3, human [O43379-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		284403
DisGeNETi284403

GeneCards: human genes, protein and diseases

More...GeneCardsi		WDR62
HGNCiHGNC:24502, WDR62
HPAiENSG00000075702, Group enriched (skeletal muscle, testis)
MalaCardsiWDR62
MIMi604317, phenotype
613583, gene
neXtProtiNX_O43379
OpenTargetsiENSG00000075702
Orphaneti2512, Autosomal recessive primary microcephaly
PharmGKBiPA134963627
VEuPathDBiHostDB:ENSG00000075702.16

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1408, Eukaryota
GeneTreeiENSGT00940000160719
HOGENOMiCLU_056306_0_0_1
InParanoidiO43379
OMAiHTFPPRA
OrthoDBi1017450at2759
PhylomeDBiO43379
TreeFamiTF323254

Enzyme and pathway databases

PathwayCommonsiO43379
SignaLinkiO43379

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		284403, 21 hits in 998 CRISPR screens

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

More...ChiTaRSi		WDR62, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		WDR62

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

More...GenomeRNAii		284403
PharosiO43379, Tbio

Protein Ontology

More...PROi		PR:O43379
RNActiO43379, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000075702, Expressed in right testis and 201 other tissues
ExpressionAtlasiO43379, baseline and differential
GenevisibleiO43379, HS

Family and domain databases

Gene3Di2.130.10.10, 3 hits
InterProiView protein in InterPro
IPR024977, Apc4_WD40_dom
IPR011047, Quinoprotein_ADH-like_supfam
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR017986, WD40_repeat_dom
IPR036322, WD40_repeat_dom_sf
PfamiView protein in Pfam
PF12894, ANAPC4_WD40, 1 hit
PF00400, WD40, 3 hits
SMARTiView protein in SMART
SM00320, WD40, 12 hits
SUPFAMiSSF50978, SSF50978, 1 hit
SSF50998, SSF50998, 1 hit
PROSITEiView protein in PROSITE
PS50082, WD_REPEATS_2, 1 hit
PS50294, WD_REPEATS_REGION, 3 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 nameiWDR62_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: O43379
Secondary accession number(s): Q63HP9
, Q659D7, Q8NBF7, Q96AD9
<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: April 3, 2007
Last sequence update: October 5, 2010
Last modified: April 7, 2021
This is version 172 of the entry and version 4 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 chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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