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O43379

- WDR62_HUMAN

UniProt

O43379 - WDR62_HUMAN

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Protein

WD repeat-containing protein 62

Gene

WDR62

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Required for cerebral cortical development. Plays a role in neuronal proliferation and migration.2 Publications

GO - Biological processi

  1. cerebral cortex development Source: UniProtKB
  2. neurogenesis Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Neurogenesis

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
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:24502. WDR62.

Subcellular locationi

Nucleus. Cytoplasmcytoskeletonspindle pole
Note: Shows cell cycle-dependent localization. Accumulates to the spindle pole during mitosis.

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. nucleus Source: UniProtKB
  3. spindle pole Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (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.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti65 – 651V → M in MCPH2. 2 Publications
VAR_065843
Natural varianti224 – 2241W → S in MCPH2. 1 Publication
VAR_063702
Natural varianti438 – 4381R → H in MCPH2; the mutant protein does not localize to the spindle pole during mitosis. 1 Publication
VAR_065844
Natural varianti511 – 5111D → N in MCPH2. 1 Publication
VAR_065845
Natural varianti526 – 5261E → K in MCPH2. 1 Publication
VAR_063703
Isoform 4 (identifier: O43379-4)
Natural varianti1078 – 10781A → T in MCPH2, uncertain pathological significance.

Keywords - Diseasei

Disease mutation, Mental retardation, Primary microcephaly

Organism-specific databases

MIMi604317. phenotype.
Orphaneti2512. Autosomal recessive primary microcephaly.
PharmGKBiPA134963627.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed2 Publications
Chaini2 – 15181517WD repeat-containing protein 62PRO_0000281879Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine2 Publications
Modified residuei46 – 461Phosphothreonine1 Publication
Modified residuei49 – 491Phosphoserine3 Publications
Modified residuei50 – 501Phosphothreonine1 Publication
Modified residuei52 – 521Phosphoserine1 Publication
Modified residuei501 – 5011Phosphoserine2 Publications
Modified residuei1053 – 10531Phosphothreonine1 Publication
Modified residuei1093 – 10931Phosphoserine1 Publication
Modified residuei1101 – 11011Phosphoserine1 Publication
Modified residuei1123 – 11231Phosphoserine1 Publication
Modified residuei1228 – 12281Phosphoserine1 Publication
Modified residuei1248 – 12481Phosphoserine1 Publication
Modified residuei1249 – 12491Phosphoserine1 Publication
Modified residuei1268 – 12681Phosphothreonine1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiO43379.
PaxDbiO43379.
PRIDEiO43379.

PTM databases

PhosphoSiteiO43379.

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

BgeeiO43379.
CleanExiHS_WDR62.
ExpressionAtlasiO43379. baseline and differential.
GenevestigatoriO43379.

Organism-specific databases

HPAiCAB046468.
HPA043255.
HPA043639.

Interactioni

Protein-protein interaction databases

BioGridi129863. 13 interactions.
IntActiO43379. 10 interactions.
MINTiMINT-1376343.
STRINGi9606.ENSP00000384792.

Structurei

3D structure databases

ProteinModelPortaliO43379.
SMRiO43379. Positions 51-233, 364-755.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati109 – 15042WD 1Add
BLAST
Repeati153 – 19442WD 2Add
BLAST
Repeati196 – 23439WD 3Add
BLAST
Repeati291 – 33040WD 4Add
BLAST
Repeati357 – 39640WD 5Add
BLAST
Repeati402 – 45049WD 6Add
BLAST
Repeati490 – 52940WD 7Add
BLAST
Repeati532 – 57443WD 8Add
BLAST
Repeati578 – 61841WD 9Add
BLAST
Repeati626 – 66540WD 10Add
BLAST
Repeati671 – 71343WD 11Add
BLAST
Repeati714 – 75239WD 12Add
BLAST
Repeati803 – 84644WD 13Add
BLAST
Repeati1132 – 117342WD 14Add
BLAST
Repeati1255 – 129339WD 15Add
BLAST

Sequence similaritiesi

Contains 15 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiCOG2319.
GeneTreeiENSGT00770000120572.
HOGENOMiHOG000010231.
HOVERGENiHBG108669.
InParanoidiO43379.
OMAiLASTFLW.
OrthoDBiEOG74N5FW.
PhylomeDBiO43379.
TreeFamiTF323254.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
InterProiIPR011047. Quinonprotein_ADH-like_supfam.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 7 hits.
[Graphical view]
SMARTiSM00320. WD40. 12 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 2 hits.
SSF50998. SSF50998. 3 hits.
PROSITEiPS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 3 hits.
[Graphical view]

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

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 AAC27979.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence AAH17261.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti370 – 3701I → T in BAC03488. (PubMed:14702039)Curated
Sequence conflicti1174 – 11741Missing in CAH56390. (PubMed:17974005)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti65 – 651V → M in MCPH2. 2 Publications
VAR_065843
Natural varianti224 – 2241W → S in MCPH2. 1 Publication
VAR_063702
Natural varianti289 – 2891K → R.
Corresponds to variant rs12327568 [ dbSNP | Ensembl ].
VAR_055014
Natural varianti438 – 4381R → H in MCPH2; the mutant protein does not localize to the spindle pole during mitosis. 1 Publication
VAR_065844
Natural varianti511 – 5111D → N in MCPH2. 1 Publication
VAR_065845
Natural varianti526 – 5261E → K in MCPH2. 1 Publication
VAR_063703
Natural varianti850 – 8501L → S.2 Publications
Corresponds to variant rs2285745 [ dbSNP | Ensembl ].
VAR_031299
Natural varianti1305 – 13051Q → L.2 Publications
Corresponds to variant rs2074435 [ dbSNP | Ensembl ].
VAR_055015
Natural varianti1311 – 13111Q → E.
Corresponds to variant rs35811023 [ dbSNP | Ensembl ].
VAR_057629
Natural varianti1370 – 13701G → S.1 Publication
Corresponds to variant rs17851503 [ dbSNP | Ensembl ].
VAR_031300
Natural varianti1385 – 13851L → F.3 Publications
Corresponds to variant rs1008328 [ dbSNP | Ensembl ].
VAR_031301
Isoform 4 (identifier: O43379-4)
Natural varianti1078 – 10781A → T in MCPH2, uncertain pathological significance.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei412 – 4143VYP → ALS in isoform 3. 1 PublicationVSP_024077
Alternative sequencei415 – 15181104Missing in isoform 3. 1 PublicationVSP_024078Add
BLAST
Alternative sequencei458 – 48326TLLKV…PDRGS → LAPALQMCGRGHSRQPNTPS PGEIAS in isoform 2. 1 PublicationVSP_024079Add
BLAST
Alternative sequencei484 – 15181035Missing in isoform 2. 1 PublicationVSP_024080Add
BLAST
Alternative sequencei1073 – 10731R → RELFPA in isoform 4. 1 PublicationVSP_039906

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]
UniGeneiHs.116244.

Genome annotation databases

EnsembliENST00000270301; ENSP00000270301; ENSG00000075702. [O43379-1]
ENST00000401500; ENSP00000384792; ENSG00000075702. [O43379-4]
ENST00000587391; ENSP00000465525; ENSG00000075702. [O43379-2]
GeneIDi284403.
KEGGihsa:284403.
UCSCiuc002odb.2. human. [O43379-3]
uc002odc.2. human. [O43379-1]
uc002odd.2. human. [O43379-4]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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 ]
UniGenei Hs.116244.

3D structure databases

ProteinModelPortali O43379.
SMRi O43379. Positions 51-233, 364-755.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 129863. 13 interactions.
IntActi O43379. 10 interactions.
MINTi MINT-1376343.
STRINGi 9606.ENSP00000384792.

PTM databases

PhosphoSitei O43379.

Proteomic databases

MaxQBi O43379.
PaxDbi O43379.
PRIDEi O43379.

Protocols and materials databases

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 uc002odb.2. human. [O43379-3 ]
uc002odc.2. human. [O43379-1 ]
uc002odd.2. human. [O43379-4 ]

Organism-specific databases

CTDi 284403.
GeneCardsi GC19P036545.
GeneReviewsi WDR62.
HGNCi HGNC:24502. WDR62.
HPAi CAB046468.
HPA043255.
HPA043639.
MIMi 604317. phenotype.
613583. gene.
neXtProti NX_O43379.
Orphaneti 2512. Autosomal recessive primary microcephaly.
PharmGKBi PA134963627.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2319.
GeneTreei ENSGT00770000120572.
HOGENOMi HOG000010231.
HOVERGENi HBG108669.
InParanoidi O43379.
OMAi LASTFLW.
OrthoDBi EOG74N5FW.
PhylomeDBi O43379.
TreeFami TF323254.

Enzyme and pathway databases

SignaLinki O43379.

Miscellaneous databases

ChiTaRSi WDR62. human.
GeneWikii WDR62.
GenomeRNAii 284403.
NextBioi 94836.
PROi O43379.
SOURCEi Search...

Gene expression databases

Bgeei O43379.
CleanExi HS_WDR62.
ExpressionAtlasi O43379. baseline and differential.
Genevestigatori O43379.

Family and domain databases

Gene3Di 2.130.10.10. 3 hits.
InterProi IPR011047. Quinonprotein_ADH-like_supfam.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view ]
Pfami PF00400. WD40. 7 hits.
[Graphical view ]
SMARTi SM00320. WD40. 12 hits.
[Graphical view ]
SUPFAMi SSF50978. SSF50978. 2 hits.
SSF50998. SSF50998. 3 hits.
PROSITEi PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-49; THR-50; SER-52; SER-501; THR-1053; SER-1123; SER-1228 AND THR-1268, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  8. "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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  9. 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.
  10. "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.
  11. Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANTS MCPH2 SER-224 AND LYS-526.
  12. "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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  13. "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.
  14. "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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  15. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiWDR62_HUMAN
AccessioniPrimary (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 26, 2014
This is version 118 of the entry and version 4 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

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