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Protein

WD repeat-containing protein 62

Gene

WDR62

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Molecular functioni

GO - Biological processi

  • centriole replication Source: UniProtKB
  • cerebral cortex development Source: UniProtKB
  • mitotic spindle organization Source: MGI
  • neurogenesis Source: UniProtKB
  • RNA splicing Source: GO_Central

Keywordsi

Biological processNeurogenesis

Enzyme and pathway databases

SignaLinkiO43379

Names & Taxonomyi

Protein namesi
Recommended name:
WD repeat-containing protein 62
Gene namesi
Name:WDR62
Synonyms:C19orf14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000075702.16
HGNCiHGNC:24502 WDR62
MIMi613583 gene
neXtProtiNX_O43379

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2)4 Publications
The disease is caused by mutations 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.
See also OMIM:604317
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_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 varianti1078A → T in MCPH2, uncertain pathological significance. 1

Keywords - Diseasei

Disease mutation, Mental retardation, Primary microcephaly

Organism-specific databases

DisGeNETi284403
GeneReviewsiWDR62
MalaCardsiWDR62
MIMi604317 phenotype
OpenTargetsiENSG00000075702
Orphaneti2512 Autosomal recessive primary microcephaly
PharmGKBiPA134963627

Polymorphism and mutation databases

BioMutaiWDR62

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002818792 – 1518WD repeat-containing protein 62Add BLAST1517

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

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

PTM databases

iPTMnetiO43379
PhosphoSitePlusiO43379

Expressioni

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

BgeeiENSG00000075702
CleanExiHS_WDR62
ExpressionAtlasiO43379 baseline and differential
GenevisibleiO43379 HS

Organism-specific databases

HPAiCAB046468
HPA043255
HPA043639

Interactioni

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

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi129863, 50 interactors
DIPiDIP-56792N
IntActiO43379, 50 interactors
STRINGi9606.ENSP00000384792

Structurei

3D structure databases

ProteinModelPortaliO43379
SMRiO43379
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

eggNOGiKOG1408 Eukaryota
ENOG410Y87A LUCA
GeneTreeiENSGT00910000144156
HOGENOMiHOG000010231
HOVERGENiHBG108669
InParanoidiO43379
KOiK21762
OMAiLASTFLW
OrthoDBiEOG091G00HU
PhylomeDBiO43379
TreeFamiTF323254

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, 2 hits
SSF50998 SSF50998, 3 hits
PROSITEiView protein in PROSITE
PS50082 WD_REPEATS_2, 1 hit
PS50294 WD_REPEATS_REGION, 3 hits

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O43379-1) [UniParc]FASTAAdd to basket

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

« Hide

        10         20         30         40         50
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
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: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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

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. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 varianti1078A → T in MCPH2, uncertain pathological significance. 1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.116244

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiWDR62_HUMAN
AccessioniPrimary (citable) accession number: O43379
Secondary accession number(s): Q63HP9
, Q659D7, Q8NBF7, Q96AD9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: October 5, 2010
Last modified: July 18, 2018
This is version 152 of the entry and version 4 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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