UniProtKB - O43379 (WDR62_HUMAN)

BLAST

>sp|O43379|WDR62_HUMAN WD repeat-containing protein 62 OS=Homo sapiens OX=9606 GN=WDR62 PE=1 SV=4
MAAVGSGGYARNDAGEKLPSVMAGVPARRGQSSPPPAPPICLRRRTRLSTASEETVQNRV
SLEKVLGITAQNSSGLTCDPGTGHVAYLAGCVVVILDPKENKQQHIFNTARKSLSALAFS
PDGKYIVTGENGHRPAVRIWDVEEKNQVAEMLGHKYGVACVAFSPNMKHIVSMGYQHDMV
LNVWDWKKDIVVASNKVSCRVIALSFSEDSSYFVTVGNRHVRFWFLEVSTETKVTSTVPL
VGRSGILGELHNNIFCGVACGRGRMAGSTFCVSYSGLLCQFNEKRVLEKWINLKVSLSSC
LCVSQELIFCGCTDGIVRIFQAHSLHYLANLPKPHYLGVDVAQGLEPSFLFHRKAEAVYP
DTVALTFDPIHQWLSCVYKDHSIYIWDVKDINRVGKVWSELFHSSYVWNVEVYPEFEDQR
ACLPSGSFLTCSSDNTIRFWNLDSSPDSHWQKNIFSNTLLKVVYVENDIQHLQDMSHFPD
RGSENGTPMDVKAGVRVMQVSPDGQHLASGDRSGNLRIHELHFMDELVKVEAHDAEVLCL
EYSKPETGLTLLASASRDRLIHVLNVEKNYNLEQTLDDHSSSITAIKFAGNRDIQMISCG
ADKSIYFRSAQQGSDGLHFVRTHHVAEKTTLYDMDIDITQKYVAVACQDRNVRVYNTVNG
KQKKCYKGSQGDEGSLLKVHVDPSGTFLATSCSDKSISVIDFYSGECIAKMFGHSEIITS
MKFTYDCHHLITVSGDSCVFIWHLGPEITNCMKQHLLEIDHRQQQQHTNDKKRSGHPRQD
TYVSTPSEIHSLSPGEQTEDDLEEECEPEEMLKTPSKDSLDPDPRCLLTNGKLPLWAKRL
LGDDDVADGLAFHAKRSYQPHGRWAERAGQEPLKTILDAQDLDCYFTPMKPESLENSILD
SLEPQSLASLLSESESPQEAGRGHPSFLPQQKESSEASELILYSLEAEVTVTGTDSQYCR
KEVEAGPGDQQGDSYLRVSSDSPKDQSPPEDSGESEADLECSFAAIHSPAPPPDPAPRFA
TSLPHFPGCAGPTEDELSLPEGPSVPSSSLPQTPEQEKFLRHHFETLTESPCRALGDVEA
SEAEDHFFNPRLSISTQFLSSLQKASRFTHTFPPRATQCLVKSPEVKLMDRGGSQPRAGT
GYASPDRTHVLAAGKAEETLEAWRPPPPCLTSLASCVPASSVLPTDRNLPTPTSAPTPGL
AQGVHAPSTCSYMEATASSRARISRSISLGDSEGPIVATLAQPLRRPSSVGELASLGQEL
QAITTATTPSLDSEGQEPALRSWGNHEARANLRLTLSSACDGLLQPPVDTQPGVTVPAVS
FPAPSPVEESALRLHGSAFRPSLPAPESPGLPAHPSNPQLPEARPGIPGGTASLLEPTSG
ALGLLQGSPARWSEPWVPVEALPPSPLELSRVGNILHRLQTTFQEALDLYRVLVSSGQVD
TGQQQARTELVSTFLWIHSQLEAECLVGTSVAPAQALPSPGPPSPPTLYPLASPDLQALL
EHYSELLVQAVRRKARGH

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Format
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History
Entry version 154 (07 Nov 2018)
Sequence version 4 (05 Oct 2010)
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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 - Biological processⁱ

centriole replication
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 26297806
cerebral cortex development
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 20729831
mitotic spindle organization
Source: MGI
Inferred from mutant phenotypeⁱ
- 24388750
neurogenesis
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 20890278

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Neurogenesis

Biological process

Neurogenesis

Enzyme and pathway databases

SignaLinkⁱ	O43379

SignaLinkⁱ

O43379

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: WD repeat-containing protein 62
Gene namesⁱ	Name:WDR62 Synonyms:C19orf14
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 19

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000075702.16
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:24502 WDR62
MIMⁱ	613583 gene
neXtProtⁱ	NX_O43379

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.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_065843	65	V → M in MCPH2. 2 PublicationsCorresponds to variant dbSNP:rs387907084EnsemblClinVar.	1
Natural variantⁱVAR_063702	224	W → S in MCPH2. 1 PublicationCorresponds to variant dbSNP:rs267607176EnsemblClinVar.	1
Natural variantⁱVAR_065844	438	R → H in MCPH2; the mutant protein does not localize to the spindle pole during mitosis. 1 PublicationCorresponds to variant dbSNP:rs387907082EnsemblClinVar.	1
Natural variantⁱVAR_065845	511	D → N in MCPH2. 1 PublicationCorresponds to variant dbSNP:rs387907083EnsemblClinVar.	1
Natural variantⁱVAR_063703	526	E → K in MCPH2. 1 PublicationCorresponds to variant dbSNP:rs147875659EnsemblClinVar.	1
Isoform 4 (identifier: O43379-4)
Natural variantⁱ	1078	A → T in MCPH2, uncertain pathological significance.	1

Keywords - Diseaseⁱ

Disease mutation, Mental retardation, Primary microcephaly

Organism-specific databases

DisGeNET More...DisGeNETⁱ	284403
GeneReviewsⁱ	WDR62
MalaCards human disease database More...MalaCardsⁱ	WDR62
MIMⁱ	604317 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000075702
Orphanetⁱ	2512 Autosomal recessive primary microcephaly
PharmGKBⁱ	PA134963627

Polymorphism and mutation databases

BioMutaⁱ	WDR62

BioMutaⁱ

WDR62

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Initiator methionineⁱ		RemovedCombined sources
ChainⁱPRO_0000281879	2 – 1518	WD repeat-containing protein 62Add BLAST		1517

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	2	N-acetylalanineCombined sources	1
Modified residueⁱ	33	PhosphoserineCombined sources	1
Modified residueⁱ	46	PhosphothreonineCombined sources	1
Modified residueⁱ	49	PhosphoserineCombined sources	1
Modified residueⁱ	50	PhosphothreonineCombined sources	1
Modified residueⁱ	52	PhosphoserineCombined sources	1
Modified residueⁱ	501	PhosphoserineCombined sources	1
Modified residueⁱ	944	PhosphoserineBy similarity	1
Modified residueⁱ	1053	PhosphothreonineCombined sources	1
Modified residueⁱ	1070	PhosphoserineCombined sources	1
Modified residueⁱ	1093	PhosphoserineCombined sources	1
Modified residueⁱ	1101	PhosphoserineCombined sources	1
Modified residueⁱ	1123	PhosphoserineCombined sources	1
Modified residueⁱ	1144	PhosphoserineCombined sources	1
Modified residueⁱ	1228	PhosphoserineCombined sources	1
Modified residueⁱ	1248	PhosphoserineCombined sources	1
Modified residueⁱ	1249	PhosphoserineCombined sources	1
Modified residueⁱ	1268	PhosphothreonineCombined sources	1

Keywords - PTMⁱ

Acetylation, Phosphoprotein

Proteomic databases

EPDⁱ	O43379
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	O43379
PaxDbⁱ	O43379
PeptideAtlas More...PeptideAtlasⁱ	O43379
PRIDEⁱ	O43379
ProteomicsDBⁱ	48915 48916 [O43379-2] 48917 [O43379-3] 48918 [O43379-4]

PTM databases

iPTMnetⁱ	O43379
PhosphoSitePlusⁱ	O43379

Expressionⁱ

Tissue specificityⁱ

Gene expression databases

Bgeeⁱ	ENSG00000075702 Expressed in 188 organ(s), highest expression level in right testis
CleanExⁱ	HS_WDR62
ExpressionAtlasⁱ	O43379 baseline and differential
Genevisibleⁱ	O43379 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB046468 HPA043255 HPA043639

HPAⁱ

CAB046468
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

With	Entry	#Exp.	IntAct
DYRK2	Q92630	3	EBI-714790,EBI-749432
ENKD1	Q9H0I2	3	EBI-714790,EBI-744099
KIAA0753	Q2KHM9	3	EBI-714790,EBI-2805604
MAGEB4	O15481	3	EBI-714790,EBI-751857
MAPK9	P45984	4	EBI-714790,EBI-713568
P4HA3	Q7Z4N8	3	EBI-714790,EBI-10181968
TBC1D23	Q9NUY8	3	EBI-714790,EBI-2853126
TBC1D23	Q9NUY8-2	3	EBI-714790,EBI-10314276

Protein-protein interaction databases

BioGridⁱ	129863, 50 interactors
Database of interacting proteins More...DIPⁱ	DIP-56792N
IntActⁱ	O43379, 48 interactors
STRINGⁱ	9606.ENSP00000384792

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	O43379
SMRⁱ	O43379
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Repeatⁱ	109 – 150	WD 1Add BLAST	42
Repeatⁱ	153 – 194	WD 2Add BLAST	42
Repeatⁱ	196 – 234	WD 3Add BLAST	39
Repeatⁱ	291 – 330	WD 4Add BLAST	40
Repeatⁱ	357 – 396	WD 5Add BLAST	40
Repeatⁱ	402 – 450	WD 6Add BLAST	49
Repeatⁱ	490 – 529	WD 7Add BLAST	40
Repeatⁱ	532 – 574	WD 8Add BLAST	43
Repeatⁱ	578 – 618	WD 9Add BLAST	41
Repeatⁱ	626 – 665	WD 10Add BLAST	40
Repeatⁱ	671 – 713	WD 11Add BLAST	43
Repeatⁱ	714 – 752	WD 12Add BLAST	39
Repeatⁱ	803 – 846	WD 13Add BLAST	44
Repeatⁱ	1132 – 1173	WD 14Add BLAST	42
Repeatⁱ	1255 – 1293	WD 15Add BLAST	39

Keywords - Domainⁱ

Repeat, WD repeat

Phylogenomic databases

eggNOGⁱ	KOG1408 Eukaryota ENOG410Y87A LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00910000144156
HOGENOMⁱ	HOG000010231
HOVERGENⁱ	HBG108669
InParanoidⁱ	O43379
KEGG Orthology (KO) More...KOⁱ	K21762
OMAⁱ	LDTVEPQ
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G00HU
PhylomeDBⁱ	O43379
TreeFamⁱ	TF323254

Family and domain databases

Gene3Dⁱ	2.130.10.10, 3 hits
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
SMARTⁱ	View protein in SMART SM00320 WD40, 12 hits
SUPFAMⁱ	SSF50978 SSF50978, 1 hit SSF50998 SSF50998, 1 hit
PROSITEⁱ	View 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. Align Add to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: O43379-1) [UniParc]FASTA Add 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

Isoform 2 (identifier: O43379-2) [UniParc]FASTA Add to basket

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

« 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 
QKNIFSNLAP ALQMCGRGHS RQPNTPSPGE IAS

Note: No experimental confirmation available.

Show »

Length:483

Mass (Da):53,449

Checksum:ⁱ39ED04847DFE1BE2

Isoform 3 (identifier: O43379-3) [UniParc]FASTA Add to basket

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

« 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 
LFHSSYVWNV EALS

Note: No experimental confirmation available.

Show »

Length:414

Mass (Da):45,740

Checksum:ⁱ598CF0B355B2F3EE

Isoform 4 (identifier: O43379-4) [UniParc]FASTA Add to basket

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

« 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 PCRELFPAAL GDVEASEAED HFFNPRLSIS 
      1110       1120       1130       1140       1150
TQFLSSLQKA SRFTHTFPPR ATQCLVKSPE VKLMDRGGSQ PRAGTGYASP 
      1160       1170       1180       1190       1200
DRTHVLAAGK AEETLEAWRP PPPCLTSLAS CVPASSVLPT DRNLPTPTSA 
      1210       1220       1230       1240       1250
PTPGLAQGVH APSTCSYMEA TASSRARISR SISLGDSEGP IVATLAQPLR 
      1260       1270       1280       1290       1300
RPSSVGELAS LGQELQAITT ATTPSLDSEG QEPALRSWGN HEARANLRLT 
      1310       1320       1330       1340       1350
LSSACDGLLQ PPVDTQPGVT VPAVSFPAPS PVEESALRLH GSAFRPSLPA 
      1360       1370       1380       1390       1400
PESPGLPAHP SNPQLPEARP GIPGGTASLL EPTSGALGLL QGSPARWSEP 
      1410       1420       1430       1440       1450
WVPVEALPPS PLELSRVGNI LHRLQTTFQE ALDLYRVLVS SGQVDTGQQQ 
      1460       1470       1480       1490       1500
ARTELVSTFL WIHSQLEAEC LVGTSVAPAQ ALPSPGPPSP PTLYPLASPD 
      1510       1520 
LQALLEHYSE LLVQAVRRKA RGH

Show »

Length:1,523

Mass (Da):166,511

Checksum:ⁱD970D15105708A8E

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

H7C3R4	H7C3R4_HUMAN	WD repeat-containing protein 62 WD repeat-containing protein 62	WDR62	318	Annotation score:
A0A2R8YD43	A0A2R8YD43_HUMAN	WD repeat-containing protein 62 WD repeat-containing protein 62	WDR62	347	Annotation score:

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 key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	370	I → T in BAC03488 (PubMed:14702039).Curated		1
Sequence conflictⁱ	1174	Missing in CAH56390 (PubMed:17974005).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_065843	65	V → M in MCPH2. 2 PublicationsCorresponds to variant dbSNP:rs387907084EnsemblClinVar.	1
Natural variantⁱVAR_063702	224	W → S in MCPH2. 1 PublicationCorresponds to variant dbSNP:rs267607176EnsemblClinVar.	1
Natural variantⁱVAR_055014	289	K → R. Corresponds to variant dbSNP:rs12327568EnsemblClinVar.	1
Natural variantⁱVAR_065844	438	R → H in MCPH2; the mutant protein does not localize to the spindle pole during mitosis. 1 PublicationCorresponds to variant dbSNP:rs387907082EnsemblClinVar.	1
Natural variantⁱVAR_065845	511	D → N in MCPH2. 1 PublicationCorresponds to variant dbSNP:rs387907083EnsemblClinVar.	1
Natural variantⁱVAR_063703	526	E → K in MCPH2. 1 PublicationCorresponds to variant dbSNP:rs147875659EnsemblClinVar.	1
Natural variantⁱVAR_031299	850	L → S2 PublicationsCorresponds to variant dbSNP:rs2285745EnsemblClinVar.	1
Natural variantⁱVAR_055015	1305	Q → L2 PublicationsCorresponds to variant dbSNP:rs2074435Ensembl.	1
Natural variantⁱVAR_057629	1311	Q → E. Corresponds to variant dbSNP:rs35811023Ensembl.	1
Natural variantⁱVAR_031300	1370	G → S1 PublicationCorresponds to variant dbSNP:rs17851503Ensembl.	1
Natural variantⁱVAR_031301	1385	L → F3 PublicationsCorresponds to variant dbSNP:rs1008328Ensembl.	1
Isoform 4 (identifier: O43379-4)
Natural variantⁱ	1078	A → T in MCPH2, uncertain pathological significance.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_024077	412 – 414	VYP → ALS in isoform 3. 1 Publication	3
Alternative sequenceⁱVSP_024078	415 – 1518	Missing in isoform 3. 1 PublicationAdd BLAST	1104
Alternative sequenceⁱVSP_024079	458 – 483	TLLKV…PDRGS → LAPALQMCGRGHSRQPNTPS PGEIAS in isoform 2. 1 PublicationAdd BLAST	26
Alternative sequenceⁱVSP_024080	484 – 1518	Missing in isoform 2. 1 PublicationAdd BLAST	1035
Alternative sequenceⁱVSP_039906	1073	R → RELFPA in isoform 4. 1 Publication	1

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.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS33001.1 [O43379-1] CCDS46059.1 [O43379-4]
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]
UniGeneⁱ	Hs.116244

Genome annotation databases

Ensemblⁱ	ENST00000270301; ENSP00000270301; ENSG00000075702 [O43379-1] ENST00000401500; ENSP00000384792; ENSG00000075702 [O43379-4] ENST00000587391; ENSP00000465525; ENSG00000075702 [O43379-2]
GeneIDⁱ	284403
KEGGⁱ	hsa:284403
UCSC genome browser More...UCSCⁱ	uc002odc.3 human [O43379-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
O43379	WD repeat domain 62 isoform 1 (Fragment)		HUMAN		630	UniRef100_O43379
O43379-4	WD repeat domain 62 isoform 2 (Fragment)		HUMAN		635	UniRef100_O43379-4
UPI0005D03D16		HUMAN		772
UPI0005D023F4		HUMAN		1000
UPI000059D6F0		HUMAN		1049

Protein	Similar proteins		Species	Score	Length	Source
O43379	WD repeat domain 62 isoform 1 (Fragment)		HUMAN		630	UniRef90_O43379
WD repeat domain 62		CERAT		1523
Uncharacterized protein		MACMU		1523
WDR62 isoform 2		PONAB		1523
WD repeat domain 62		PANTR		1523
+49
O43379-2	WDR62 isoform 3		PONAB		483	UniRef90_O43379-2
WDR62 isoform 3		PANTR		483
Isoform 3 of WD repeat-containing protein 62		HUMAN		414
UPI000813195C		MANJA		425
UPI00027F4BBB		PAPAN		414
O43379-3	Isoform 2 of WD repeat-containing protein 62		HUMAN		483	UniRef90_O43379-2
WDR62 isoform 3		PONAB		483
WDR62 isoform 3		PANTR		483
UPI000813195C		MANJA		425
UPI00027F4BBB		PAPAN		414

Protein	Similar proteins		Species	Score	Length	Source
O43379	WD repeat-containing protein 62		MOUSE		1523	UniRef50_O43379
WD repeat-containing protein 62		PIG		1541
WD repeat domain 62 isoform 1 (Fragment)		HUMAN		630
Uncharacterized protein		MANLE		1523
Uncharacterized protein		MACMU		1523
+333
O43379-2	WDR62 isoform 3		PANTR		483	UniRef50_O43379-2
WDR62 isoform 3		PONAB		483
Isoform 3 of WD repeat-containing protein 62		HUMAN		414
Uncharacterized protein		TETNG		423
Uncharacterized protein		ORYLA		421
+16
O43379-3	Isoform 2 of WD repeat-containing protein 62		HUMAN		483	UniRef50_O43379-2
WDR62 isoform 3		PANTR		483
WDR62 isoform 3		PONAB		483
Uncharacterized protein		TETNG		423
Uncharacterized protein		ORYLA		421
+16

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.
CCDSⁱ	CCDS33001.1 [O43379-1] CCDS46059.1 [O43379-4]
PIRⁱ	T01437
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]
UniGeneⁱ	Hs.116244

3D structure databases

ProteinModelPortalⁱ	O43379
SMRⁱ	O43379
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	129863, 50 interactors
DIPⁱ	DIP-56792N
IntActⁱ	O43379, 48 interactors
STRINGⁱ	9606.ENSP00000384792

PTM databases

iPTMnetⁱ	O43379
PhosphoSitePlusⁱ	O43379

Polymorphism and mutation databases

BioMutaⁱ	WDR62

BioMutaⁱ

WDR62

Proteomic databases

EPDⁱ	O43379
MaxQBⁱ	O43379
PaxDbⁱ	O43379
PeptideAtlasⁱ	O43379
PRIDEⁱ	O43379
ProteomicsDBⁱ	48915 48916 [O43379-2] 48917 [O43379-3] 48918 [O43379-4]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	284403
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000270301; ENSP00000270301; ENSG00000075702 [O43379-1] ENST00000401500; ENSP00000384792; ENSG00000075702 [O43379-4] ENST00000587391; ENSP00000465525; ENSG00000075702 [O43379-2]
GeneIDⁱ	284403
KEGGⁱ	hsa:284403
UCSCⁱ	uc002odc.3 human [O43379-1]

Organism-specific databases

CTDⁱ	284403
DisGeNETⁱ	284403
EuPathDBⁱ	HostDB:ENSG00000075702.16
GeneCardsⁱ	WDR62
GeneReviewsⁱ	WDR62
HGNCⁱ	HGNC:24502 WDR62
HPAⁱ	CAB046468 HPA043255 HPA043639
MalaCardsⁱ	WDR62
MIMⁱ	604317 phenotype 613583 gene
neXtProtⁱ	NX_O43379
OpenTargetsⁱ	ENSG00000075702
Orphanetⁱ	2512 Autosomal recessive primary microcephaly
PharmGKBⁱ	PA134963627
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1408 Eukaryota ENOG410Y87A LUCA
GeneTreeⁱ	ENSGT00910000144156
HOGENOMⁱ	HOG000010231
HOVERGENⁱ	HBG108669
InParanoidⁱ	O43379
KOⁱ	K21762
OMAⁱ	LDTVEPQ
OrthoDBⁱ	EOG091G00HU
PhylomeDBⁱ	O43379
TreeFamⁱ	TF323254

Enzyme and pathway databases

SignaLinkⁱ	O43379

SignaLinkⁱ

O43379

Miscellaneous databases

ChiTaRSⁱ	WDR62 human
GeneWikiⁱ	WDR62
GenomeRNAiⁱ	284403
Protein Ontology More...PROⁱ	PR:O43379
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000075702 Expressed in 188 organ(s), highest expression level in right testis
CleanExⁱ	HS_WDR62
ExpressionAtlasⁱ	O43379 baseline and differential
Genevisibleⁱ	O43379 HS

Family and domain databases

Gene3Dⁱ	2.130.10.10, 3 hits
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
Pfamⁱ	View protein in Pfam PF12894 ANAPC4_WD40, 1 hit PF00400 WD40, 3 hits
SMARTⁱ	View protein in SMART SM00320 WD40, 12 hits
SUPFAMⁱ	SSF50978 SSF50978, 1 hit SSF50998 SSF50998, 1 hit
PROSITEⁱ	View protein in PROSITE PS50082 WD_REPEATS_2, 1 hit PS50294 WD_REPEATS_REGION, 3 hits
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	WDR62_HUMAN
Accessionⁱ	O43379Primary (citable) accession number: O43379 Secondary accession number(s): Q63HP9 , Q659D7, Q8NBF7, Q96AD9
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	April 3, 2007
	Last sequence update:	October 5, 2010
	Last modified:	November 7, 2018
	This is version 154 of the entry and version 4 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

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

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UniProtKB - O43379 (WDR62_HUMAN)

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WD repeat-containing protein 62

WDR62

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<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

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Keywords - PTMi

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<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

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<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

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<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

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Keywords - Domaini

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<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

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Keywords - Coding sequence diversityi

<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

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Protocols and materials databases

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Enzyme and pathway databases

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Gene expression databases

Family and domain databases

<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 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

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

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Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

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Keywords - Technical termⁱ