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O43379

- WDR62_HUMAN

UniProt

O43379 - WDR62_HUMAN

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
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 4 (05 Oct 2010)
      Previous versions | rss
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    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

    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

    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

    ArrayExpressiO43379.
    BgeeiO43379.
    CleanExiHS_WDR62.
    GenevestigatoriO43379.

    Organism-specific databases

    HPAiCAB046468.
    HPA043255.
    HPA043639.

    Interactioni

    Protein-protein interaction databases

    BioGridi129863. 12 interactions.
    IntActiO43379. 10 interactions.
    MINTiMINT-1376343.
    STRINGi9606.ENSP00000384792.

    Structurei

    3D structure databases

    ProteinModelPortaliO43379.
    SMRiO43379. Positions 201-227, 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.
    HOGENOMiHOG000010231.
    HOVERGENiHBG108669.
    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

    MAAVGSGGYA RNDAGEKLPS VMAGVPARRG QSSPPPAPPI CLRRRTRLST     50
    ASEETVQNRV SLEKVLGITA QNSSGLTCDP GTGHVAYLAG CVVVILDPKE 100
    NKQQHIFNTA RKSLSALAFS PDGKYIVTGE NGHRPAVRIW DVEEKNQVAE 150
    MLGHKYGVAC VAFSPNMKHI VSMGYQHDMV LNVWDWKKDI VVASNKVSCR 200
    VIALSFSEDS SYFVTVGNRH VRFWFLEVST ETKVTSTVPL VGRSGILGEL 250
    HNNIFCGVAC GRGRMAGSTF CVSYSGLLCQ FNEKRVLEKW INLKVSLSSC 300
    LCVSQELIFC GCTDGIVRIF QAHSLHYLAN LPKPHYLGVD VAQGLEPSFL 350
    FHRKAEAVYP DTVALTFDPI HQWLSCVYKD HSIYIWDVKD INRVGKVWSE 400
    LFHSSYVWNV EVYPEFEDQR ACLPSGSFLT CSSDNTIRFW NLDSSPDSHW 450
    QKNIFSNTLL KVVYVENDIQ HLQDMSHFPD RGSENGTPMD VKAGVRVMQV 500
    SPDGQHLASG DRSGNLRIHE LHFMDELVKV EAHDAEVLCL EYSKPETGLT 550
    LLASASRDRL IHVLNVEKNY NLEQTLDDHS SSITAIKFAG NRDIQMISCG 600
    ADKSIYFRSA QQGSDGLHFV RTHHVAEKTT LYDMDIDITQ KYVAVACQDR 650
    NVRVYNTVNG KQKKCYKGSQ GDEGSLLKVH VDPSGTFLAT SCSDKSISVI 700
    DFYSGECIAK MFGHSEIITS MKFTYDCHHL ITVSGDSCVF IWHLGPEITN 750
    CMKQHLLEID HRQQQQHTND KKRSGHPRQD TYVSTPSEIH SLSPGEQTED 800
    DLEEECEPEE MLKTPSKDSL DPDPRCLLTN GKLPLWAKRL LGDDDVADGL 850
    AFHAKRSYQP HGRWAERAGQ EPLKTILDAQ DLDCYFTPMK PESLENSILD 900
    SLEPQSLASL LSESESPQEA GRGHPSFLPQ QKESSEASEL ILYSLEAEVT 950
    VTGTDSQYCR KEVEAGPGDQ QGDSYLRVSS DSPKDQSPPE DSGESEADLE 1000
    CSFAAIHSPA PPPDPAPRFA TSLPHFPGCA GPTEDELSLP EGPSVPSSSL 1050
    PQTPEQEKFL RHHFETLTES PCRALGDVEA SEAEDHFFNP RLSISTQFLS 1100
    SLQKASRFTH TFPPRATQCL VKSPEVKLMD RGGSQPRAGT GYASPDRTHV 1150
    LAAGKAEETL EAWRPPPPCL TSLASCVPAS SVLPTDRNLP TPTSAPTPGL 1200
    AQGVHAPSTC SYMEATASSR ARISRSISLG DSEGPIVATL AQPLRRPSSV 1250
    GELASLGQEL QAITTATTPS LDSEGQEPAL RSWGNHEARA NLRLTLSSAC 1300
    DGLLQPPVDT QPGVTVPAVS FPAPSPVEES ALRLHGSAFR PSLPAPESPG 1350
    LPAHPSNPQL PEARPGIPGG TASLLEPTSG ALGLLQGSPA RWSEPWVPVE 1400
    ALPPSPLELS RVGNILHRLQ TTFQEALDLY RVLVSSGQVD TGQQQARTEL 1450
    VSTFLWIHSQ LEAECLVGTS VAPAQALPSP GPPSPPTLYP LASPDLQALL 1500
    EHYSELLVQA VRRKARGH 1518
    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 AAH17261.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAC27979.1 differs from that shown. Reason: Erroneous gene model prediction.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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 201-227, 364-755.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 129863. 12 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.
    HOGENOMi HOG000010231.
    HOVERGENi HBG108669.
    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

    ArrayExpressi O43379.
    Bgeei O43379.
    CleanExi HS_WDR62.
    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

    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: October 1, 2014
    This is version 116 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

    Dasty 3