O43379 (WDR62_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
WD repeat-containing protein 62

Gene names

Name:	WDR62
Synonyms:	C19orf14

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1518 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Required for cerebral cortical development. Plays a role in neuronal proliferation and migration. Ref.9 Ref.10
Subcellular location	Nucleus. Cytoplasm › cytoskeleton › spindle pole. Note: Shows cell cycle-dependent localization. Accumulates to the spindle pole during mitosis. Ref.8 Ref.9 Ref.10 Ref.12
Tissue specificity	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. Ref.8
Involvement in disease	Microcephaly, primary, 2 (MCPH2) [MIM:604317]: A 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8 Ref.9 Ref.10 Ref.12
Sequence similarities	Contains 15 WD repeats.
Sequence caution	The sequence AAC27979.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence AAH17261.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Biological process	Neurogenesis
Cellular component	Cytoplasm Cytoskeleton Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Mental retardation Primary microcephaly
Domain	Repeat WD repeat
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cerebral cortex development Inferred from mutant phenotype Ref.10. Source: UniProtKB neurogenesis Inferred from mutant phenotype Ref.9. Source: UniProtKB
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW nucleus Inferred from direct assay Ref.10. Source: UniProtKB spindle pole Inferred from direct assay Ref.9Ref.8. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O43379-1)

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.

Isoform 2 (identifier: O43379-2)

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

Note: No experimental confirmation available.

Isoform 3 (identifier: O43379-3)

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

Note: No experimental confirmation available.

Isoform 4 (identifier: O43379-4)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1518	1518	WD repeat-containing protein 62		PRO_0000281879
Regions
	Repeat	109 – 150	42	WD 1
	Repeat	153 – 194	42	WD 2
	Repeat	196 – 234	39	WD 3
	Repeat	291 – 330	40	WD 4
	Repeat	357 – 396	40	WD 5
	Repeat	402 – 450	49	WD 6
	Repeat	490 – 529	40	WD 7
	Repeat	532 – 574	43	WD 8
	Repeat	578 – 618	41	WD 9
	Repeat	626 – 665	40	WD 10
	Repeat	671 – 713	43	WD 11
	Repeat	714 – 752	39	WD 12
	Repeat	803 – 846	44	WD 13
	Repeat	1132 – 1173	42	WD 14
	Repeat	1255 – 1293	39	WD 15
Amino acid modifications
	Modified residue	46	1	Phosphothreonine Ref.13
	Modified residue	49	1	Phosphoserine Ref.6 Ref.11 Ref.13
	Modified residue	50	1	Phosphothreonine Ref.6
	Modified residue	52	1	Phosphoserine Ref.6
	Modified residue	501	1	Phosphoserine Ref.6 Ref.11
	Modified residue	1053	1	Phosphothreonine Ref.6
	Modified residue	1093	1	Phosphoserine Ref.11
	Modified residue	1101	1	Phosphoserine Ref.11
	Modified residue	1123	1	Phosphoserine Ref.6
	Modified residue	1228	1	Phosphoserine Ref.6
	Modified residue	1248	1	Phosphoserine Ref.7
	Modified residue	1249	1	Phosphoserine Ref.7
	Modified residue	1268	1	Phosphothreonine Ref.6
Natural variations
	Alternative sequence	412 – 414	3	VYP → ALS in isoform 3.		VSP_024077
	Alternative sequence	415 – 1518	1104	Missing in isoform 3.		VSP_024078
	Alternative sequence	458 – 483	26	TLLKV…PDRGS → LAPALQMCGRGHSRQPNTPS PGEIAS in isoform 2.		VSP_024079
	Alternative sequence	484 – 1518	1035	Missing in isoform 2.		VSP_024080
	Alternative sequence	1073	1	R → RELFPA in isoform 4.		VSP_039906
	Natural variant	65	1	V → M in MCPH2. Ref.8 Ref.9		VAR_065843
	Natural variant	224	1	W → S in MCPH2. Ref.10		VAR_063702
	Natural variant	289	1	K → R. Corresponds to variant rs12327568 [ dbSNP | Ensembl ].		VAR_055014
	Natural variant	438	1	R → H in MCPH2; the mutant protein does not localize to the spindle pole during mitosis. Ref.8		VAR_065844
	Natural variant	511	1	D → N in MCPH2. Ref.8		VAR_065845
	Natural variant	526	1	E → K in MCPH2. Ref.10		VAR_063703
	Natural variant	850	1	L → S. Ref.3 Ref.4 Corresponds to variant rs2285745 [ dbSNP | Ensembl ].		VAR_031299
	Natural variant	1305	1	Q → L. Ref.2 Ref.4 Corresponds to variant rs2074435 [ dbSNP | Ensembl ].		VAR_055015
	Natural variant	1311	1	Q → E. Corresponds to variant rs35811023 [ dbSNP | Ensembl ].		VAR_057629
	Natural variant	1370	1	G → S. Ref.4 Corresponds to variant rs17851503 [ dbSNP | Ensembl ].		VAR_031300
	Natural variant	1385	1	L → F. Ref.2 Ref.3 Ref.4 Corresponds to variant rs1008328 [ dbSNP | Ensembl ].		VAR_031301
Isoform 4:
	Natural variant	1078	1	A → T in MCPH2, uncertain pathological significance.
Experimental info
	Sequence conflict	370	1	I → T in BAC03488. Ref.1
	Sequence conflict	1174	1	Missing in CAH56390. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 5, 2010. Version 4. Checksum: 6E60A95B5774EF18	FASTA	1,518	165,954
	10 20 30 40 50 60 MAAVGSGGYA RNDAGEKLPS VMAGVPARRG QSSPPPAPPI CLRRRTRLST ASEETVQNRV 70 80 90 100 110 120 SLEKVLGITA QNSSGLTCDP GTGHVAYLAG CVVVILDPKE NKQQHIFNTA RKSLSALAFS 130 140 150 160 170 180 PDGKYIVTGE NGHRPAVRIW DVEEKNQVAE MLGHKYGVAC VAFSPNMKHI VSMGYQHDMV 190 200 210 220 230 240 LNVWDWKKDI VVASNKVSCR VIALSFSEDS SYFVTVGNRH VRFWFLEVST ETKVTSTVPL 250 260 270 280 290 300 VGRSGILGEL HNNIFCGVAC GRGRMAGSTF CVSYSGLLCQ FNEKRVLEKW INLKVSLSSC 310 320 330 340 350 360 LCVSQELIFC GCTDGIVRIF QAHSLHYLAN LPKPHYLGVD VAQGLEPSFL FHRKAEAVYP 370 380 390 400 410 420 DTVALTFDPI HQWLSCVYKD HSIYIWDVKD INRVGKVWSE LFHSSYVWNV EVYPEFEDQR 430 440 450 460 470 480 ACLPSGSFLT CSSDNTIRFW NLDSSPDSHW QKNIFSNTLL KVVYVENDIQ HLQDMSHFPD 490 500 510 520 530 540 RGSENGTPMD VKAGVRVMQV SPDGQHLASG DRSGNLRIHE LHFMDELVKV EAHDAEVLCL 550 560 570 580 590 600 EYSKPETGLT LLASASRDRL IHVLNVEKNY NLEQTLDDHS SSITAIKFAG NRDIQMISCG 610 620 630 640 650 660 ADKSIYFRSA QQGSDGLHFV RTHHVAEKTT LYDMDIDITQ KYVAVACQDR NVRVYNTVNG 670 680 690 700 710 720 KQKKCYKGSQ GDEGSLLKVH VDPSGTFLAT SCSDKSISVI DFYSGECIAK MFGHSEIITS 730 740 750 760 770 780 MKFTYDCHHL ITVSGDSCVF IWHLGPEITN CMKQHLLEID HRQQQQHTND KKRSGHPRQD 790 800 810 820 830 840 TYVSTPSEIH SLSPGEQTED DLEEECEPEE MLKTPSKDSL DPDPRCLLTN GKLPLWAKRL 850 860 870 880 890 900 LGDDDVADGL AFHAKRSYQP HGRWAERAGQ EPLKTILDAQ DLDCYFTPMK PESLENSILD 910 920 930 940 950 960 SLEPQSLASL LSESESPQEA GRGHPSFLPQ QKESSEASEL ILYSLEAEVT VTGTDSQYCR 970 980 990 1000 1010 1020 KEVEAGPGDQ QGDSYLRVSS DSPKDQSPPE DSGESEADLE CSFAAIHSPA PPPDPAPRFA 1030 1040 1050 1060 1070 1080 TSLPHFPGCA GPTEDELSLP EGPSVPSSSL PQTPEQEKFL RHHFETLTES PCRALGDVEA 1090 1100 1110 1120 1130 1140 SEAEDHFFNP RLSISTQFLS SLQKASRFTH TFPPRATQCL VKSPEVKLMD RGGSQPRAGT 1150 1160 1170 1180 1190 1200 GYASPDRTHV LAAGKAEETL EAWRPPPPCL TSLASCVPAS SVLPTDRNLP TPTSAPTPGL 1210 1220 1230 1240 1250 1260 AQGVHAPSTC SYMEATASSR ARISRSISLG DSEGPIVATL AQPLRRPSSV GELASLGQEL 1270 1280 1290 1300 1310 1320 QAITTATTPS LDSEGQEPAL RSWGNHEARA NLRLTLSSAC DGLLQPPVDT QPGVTVPAVS 1330 1340 1350 1360 1370 1380 FPAPSPVEES ALRLHGSAFR PSLPAPESPG LPAHPSNPQL PEARPGIPGG TASLLEPTSG 1390 1400 1410 1420 1430 1440 ALGLLQGSPA RWSEPWVPVE ALPPSPLELS RVGNILHRLQ TTFQEALDLY RVLVSSGQVD 1450 1460 1470 1480 1490 1500 TGQQQARTEL VSTFLWIHSQ LEAECLVGTS VAPAQALPSP GPPSPPTLYP LASPDLQALL 1510 EHYSELLVQA VRRKARGH
	Isoform 2 [UniParc]. Checksum: 39ED04847DFE1BE2	FASTA	483	53,449
	10 20 30 40 50 60 MAAVGSGGYA RNDAGEKLPS VMAGVPARRG QSSPPPAPPI CLRRRTRLST ASEETVQNRV 70 80 90 100 110 120 SLEKVLGITA QNSSGLTCDP GTGHVAYLAG CVVVILDPKE NKQQHIFNTA RKSLSALAFS 130 140 150 160 170 180 PDGKYIVTGE NGHRPAVRIW DVEEKNQVAE MLGHKYGVAC VAFSPNMKHI VSMGYQHDMV 190 200 210 220 230 240 LNVWDWKKDI VVASNKVSCR VIALSFSEDS SYFVTVGNRH VRFWFLEVST ETKVTSTVPL 250 260 270 280 290 300 VGRSGILGEL HNNIFCGVAC GRGRMAGSTF CVSYSGLLCQ FNEKRVLEKW INLKVSLSSC 310 320 330 340 350 360 LCVSQELIFC GCTDGIVRIF QAHSLHYLAN LPKPHYLGVD VAQGLEPSFL FHRKAEAVYP 370 380 390 400 410 420 DTVALTFDPI HQWLSCVYKD HSIYIWDVKD INRVGKVWSE LFHSSYVWNV EVYPEFEDQR 430 440 450 460 470 480 ACLPSGSFLT CSSDNTIRFW NLDSSPDSHW QKNIFSNLAP ALQMCGRGHS RQPNTPSPGE IAS
	Isoform 3 [UniParc]. Checksum: 598CF0B355B2F3EE	FASTA	414	45,740
	10 20 30 40 50 60 MAAVGSGGYA RNDAGEKLPS VMAGVPARRG QSSPPPAPPI CLRRRTRLST ASEETVQNRV 70 80 90 100 110 120 SLEKVLGITA QNSSGLTCDP GTGHVAYLAG CVVVILDPKE NKQQHIFNTA RKSLSALAFS 130 140 150 160 170 180 PDGKYIVTGE NGHRPAVRIW DVEEKNQVAE MLGHKYGVAC VAFSPNMKHI VSMGYQHDMV 190 200 210 220 230 240 LNVWDWKKDI VVASNKVSCR VIALSFSEDS SYFVTVGNRH VRFWFLEVST ETKVTSTVPL 250 260 270 280 290 300 VGRSGILGEL HNNIFCGVAC GRGRMAGSTF CVSYSGLLCQ FNEKRVLEKW INLKVSLSSC 310 320 330 340 350 360 LCVSQELIFC GCTDGIVRIF QAHSLHYLAN LPKPHYLGVD VAQGLEPSFL FHRKAEAVYP 370 380 390 400 410 DTVALTFDPI HQWLSCVYKD HSIYIWDVKD INRVGKVWSE LFHSSYVWNV EALS
	Isoform 4 [UniParc]. Checksum: D970D15105708A8E	FASTA	1,523	166,511
	10 20 30 40 50 60 MAAVGSGGYA RNDAGEKLPS VMAGVPARRG QSSPPPAPPI CLRRRTRLST ASEETVQNRV 70 80 90 100 110 120 SLEKVLGITA QNSSGLTCDP GTGHVAYLAG CVVVILDPKE NKQQHIFNTA RKSLSALAFS 130 140 150 160 170 180 PDGKYIVTGE NGHRPAVRIW DVEEKNQVAE MLGHKYGVAC VAFSPNMKHI VSMGYQHDMV 190 200 210 220 230 240 LNVWDWKKDI VVASNKVSCR VIALSFSEDS SYFVTVGNRH VRFWFLEVST ETKVTSTVPL 250 260 270 280 290 300 VGRSGILGEL HNNIFCGVAC GRGRMAGSTF CVSYSGLLCQ FNEKRVLEKW INLKVSLSSC 310 320 330 340 350 360 LCVSQELIFC GCTDGIVRIF QAHSLHYLAN LPKPHYLGVD VAQGLEPSFL FHRKAEAVYP 370 380 390 400 410 420 DTVALTFDPI HQWLSCVYKD HSIYIWDVKD INRVGKVWSE LFHSSYVWNV EVYPEFEDQR 430 440 450 460 470 480 ACLPSGSFLT CSSDNTIRFW NLDSSPDSHW QKNIFSNTLL KVVYVENDIQ HLQDMSHFPD 490 500 510 520 530 540 RGSENGTPMD VKAGVRVMQV SPDGQHLASG DRSGNLRIHE LHFMDELVKV EAHDAEVLCL 550 560 570 580 590 600 EYSKPETGLT LLASASRDRL IHVLNVEKNY NLEQTLDDHS SSITAIKFAG NRDIQMISCG 610 620 630 640 650 660 ADKSIYFRSA QQGSDGLHFV RTHHVAEKTT LYDMDIDITQ KYVAVACQDR NVRVYNTVNG 670 680 690 700 710 720 KQKKCYKGSQ GDEGSLLKVH VDPSGTFLAT SCSDKSISVI DFYSGECIAK MFGHSEIITS 730 740 750 760 770 780 MKFTYDCHHL ITVSGDSCVF IWHLGPEITN CMKQHLLEID HRQQQQHTND KKRSGHPRQD 790 800 810 820 830 840 TYVSTPSEIH SLSPGEQTED DLEEECEPEE MLKTPSKDSL DPDPRCLLTN GKLPLWAKRL 850 860 870 880 890 900 LGDDDVADGL AFHAKRSYQP HGRWAERAGQ EPLKTILDAQ DLDCYFTPMK PESLENSILD 910 920 930 940 950 960 SLEPQSLASL LSESESPQEA GRGHPSFLPQ QKESSEASEL ILYSLEAEVT VTGTDSQYCR 970 980 990 1000 1010 1020 KEVEAGPGDQ QGDSYLRVSS DSPKDQSPPE DSGESEADLE CSFAAIHSPA PPPDPAPRFA 1030 1040 1050 1060 1070 1080 TSLPHFPGCA GPTEDELSLP EGPSVPSSSL PQTPEQEKFL RHHFETLTES PCRELFPAAL 1090 1100 1110 1120 1130 1140 GDVEASEAED HFFNPRLSIS TQFLSSLQKA SRFTHTFPPR ATQCLVKSPE VKLMDRGGSQ 1150 1160 1170 1180 1190 1200 PRAGTGYASP DRTHVLAAGK AEETLEAWRP PPPCLTSLAS CVPASSVLPT DRNLPTPTSA 1210 1220 1230 1240 1250 1260 PTPGLAQGVH APSTCSYMEA TASSRARISR SISLGDSEGP IVATLAQPLR RPSSVGELAS 1270 1280 1290 1300 1310 1320 LGQELQAITT ATTPSLDSEG QEPALRSWGN HEARANLRLT LSSACDGLLQ PPVDTQPGVT 1330 1340 1350 1360 1370 1380 VPAVSFPAPS PVEESALRLH GSAFRPSLPA PESPGLPAHP SNPQLPEARP GIPGGTASLL 1390 1400 1410 1420 1430 1440 EPTSGALGLL QGSPARWSEP WVPVEALPPS PLELSRVGNI LHRLQTTFQE ALDLYRVLVS 1450 1460 1470 1480 1490 1500 SGQVDTGQQQ ARTELVSTFL WIHSQLEAEC LVGTSVAPAQ ALPSPGPPSP PTLYPLASPD 1510 1520 LQALLEHYSE LLVQAVRRKA RGH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Glial tumor.
[2]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 865-1518 (ISOFORM 1), VARIANTS LEU-1305 AND PHE-1385. Tissue: Testis.
[3]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS SER-850 AND PHE-1385.
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 735-1518 (ISOFORM 1), VARIANTS SER-850; LEU-1305; SER-1370 AND PHE-1385. Tissue: Muscle.
[5]	"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[6]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-49; THR-50; SER-52; SER-501; THR-1053; SER-1123; SER-1228 AND THR-1268, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[7]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1248 AND SER-1249, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[8]	"WDR62 is associated with the spindle pole and is mutated in human microcephaly." Nicholas A.K., Khurshid M., Desir J., Carvalho O.P., Cox J.J., Thornton G., Kausar R., Ansar M., Ahmad W., Verloes A., Passemard S., Misson J.P., Lindsay S., Gergely F., Dobyns W.B., Roberts E., Abramowicz M., Woods C.G. Nat. Genet. 42:1010-1014(2010) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANTS MCPH2 MET-65; HIS-438 AND ASN-511, VARIANT MCPH2 THR-1078 (ISOFORM 4), CHARACTERIZATION OF VARIANT MCPH2 HIS-438.
[9]	"Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture." Yu T.W., Mochida G.H., Tischfield D.J., Sgaier S.K., Flores-Sarnat L., Sergi C.M., Topcu M., McDonald M.T., Barry B.J., Felie J.M., Sunu C., Dobyns W.B., Folkerth R.D., Barkovich A.J., Walsh C.A. Nat. Genet. 42:1015-1020(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT MCPH2 MET-65.
[10]	"Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations." Bilguvar K., Ozturk A.K., Louvi A., Kwan K.Y., Choi M., Tatli B., Yalnizoglu D., Tuysuz B., Caglayan A.O., Gokben S., Kaymakcalan H., Barak T., Bakircioglu M., Yasuno K., Ho W., Sanders S., Zhu Y., Yilmaz S. , Dincer A., Johnson M.H., Bronen R.A., Kocer N., Per H., Mane S., Pamir M.N., Yalcinkaya C., Kumandas S., Topcu M., Ozmen M., Sestan N., Lifton R.P., State M.W., Gunel M. Nature 467:207-210(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANTS MCPH2 SER-224 AND LYS-526.
[11]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-49; SER-501; SER-1093 AND SER-1101, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[12]	"Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations." Bhat V., Girimaji S.C., Mohan G., Arvinda H.R., Singhmar P., Duvvari M.R., Kumar A. Clin. Genet. 80:532-540(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN MCPH2, SUBCELLULAR LOCATION.
[13]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-46 AND SER-49, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00470483. IPI00644445. IPI00654823. IPI00794521.
PIR	T01437.
RefSeq	NP_001077430.1. NM_001083961.1. NP_775907.4. NM_173636.4.
UniGene	Hs.116244.
3D structure databases
ProteinModelPortal	O43379.
SMR	O43379. Positions 73-228, 364-755.
ModBase	Search...
Protein-protein interaction databases
IntAct	O43379. 7 interactions.
MINT	MINT-1376343.
STRING	9606.ENSP00000384792.
PTM databases
PhosphoSite	O43379.
Proteomic databases
PaxDb	O43379.
PRIDE	O43379.
Protocols and materials databases
DNASU	284403.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000270301; ENSP00000270301; ENSG00000075702. ENST00000378860; ENSP00000368137; ENSG00000075702. ENST00000388999; ENSP00000373651; ENSG00000075702. ENST00000401500; ENSP00000384792; ENSG00000075702. ENST00000587391; ENSP00000465525; ENSG00000075702.
GeneID	284403.
KEGG	hsa:284403.
UCSC	uc002odb.2. human. uc002odc.2. human. uc002odd.2. human.
Organism-specific databases
CTD	284403.
GeneCards	GC19P036545.
HGNC	HGNC:24502. WDR62.
HPA	CAB046468. HPA043255. HPA043639.
MIM	604317. phenotype. 613583. gene.
neXtProt	NX_O43379.
Orphanet	2512. Autosomal recessive primary microcephaly. 2798. Pachygyria - intellectual deficit - epilepsy.
PharmGKB	PA134963627.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2319.
HOGENOM	HOG000010231.
HOVERGEN	HBG108669.
OMA	LASTFLW.
OrthoDB	EOG4MPHPS.
Enzyme and pathway databases
SignaLink	O43379.
Gene expression databases
Bgee	O43379.
CleanEx	HS_WDR62.
Genevestigator	O43379.
Family and domain databases
Gene3D	2.130.10.10. 3 hits.
InterPro	IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR017986. WD40_repeat_dom. [Graphical view]
Pfam	PF00400. WD40. 7 hits. [Graphical view]
SMART	SM00320. WD40. 12 hits. [Graphical view]
SUPFAM	SSF50978. WD40_like. 2 hits.
PROSITE	PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. 1 hit. PS50294. WD_REPEATS_REGION. 3 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	WDR62. human.
GenomeRNAi	284403.
NextBio	94836.
SOURCE	Search...

Entry information

Entry name

WDR62_HUMAN

Accession

Primary (citable) accession number: O43379
Secondary accession number(s): Q63HP9 , Q659D7, Q8NBF7, Q96AD9

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 3, 2007
Last sequence update:	October 5, 2010
Last modified:	May 29, 2013
This is version 102 of the entry and version 4 of the sequence. [Complete history]

Entry status

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.