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Q96MR6

- WDR65_HUMAN

UniProt

Q96MR6 - WDR65_HUMAN

Protein

WD repeat-containing protein 65

Gene

WDR65

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 3 (13 Jul 2010)
      Previous versions | rss
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    Functioni

    Enzyme and pathway databases

    SignaLinkiQ96MR6.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    WD repeat-containing protein 65
    Gene namesi
    Name:WDR65
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:26485. WDR65.

    Pathology & Biotechi

    Involvement in diseasei

    Van der Woude syndrome 2 (VWS2) [MIM:606713]: An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.1 Publication
    Note: The disease may be caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti523 – 5231D → Y in VWS2. 1 Publication
    VAR_066494

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi606713. phenotype.
    PharmGKBiPA142670598.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 12501250WD repeat-containing protein 65PRO_0000242653Add
    BLAST

    Proteomic databases

    MaxQBiQ96MR6.
    PaxDbiQ96MR6.
    PRIDEiQ96MR6.

    PTM databases

    PhosphoSiteiQ96MR6.

    Expressioni

    Inductioni

    May be an IRF6-target.

    Gene expression databases

    ArrayExpressiQ96MR6.
    BgeeiQ96MR6.
    CleanExiHS_WDR65.
    GenevestigatoriQ96MR6.

    Organism-specific databases

    HPAiHPA002736.
    HPA028623.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000296394.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96MR6.
    SMRiQ96MR6. Positions 36-126, 347-693.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati105 – 14844WD 1Add
    BLAST
    Repeati151 – 19040WD 2Add
    BLAST
    Repeati195 – 23339WD 3Add
    BLAST
    Repeati336 – 37540WD 4Add
    BLAST
    Repeati387 – 42640WD 5Add
    BLAST
    Repeati428 – 47043WD 6Add
    BLAST
    Repeati472 – 50736WD 7Add
    BLAST
    Repeati510 – 54940WD 8Add
    BLAST
    Repeati552 – 59140WD 9Add
    BLAST
    Repeati636 – 67540WD 10Add
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili691 – 1057367Sequence AnalysisAdd
    BLAST
    Coiled coili1095 – 116672Sequence AnalysisAdd
    BLAST
    Coiled coili1198 – 122528Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Contains 10 WD repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil, Repeat, WD repeat

    Phylogenomic databases

    eggNOGiCOG2319.
    HOGENOMiHOG000231280.
    HOVERGENiHBG091589.
    InParanoidiA6NKQ3.
    OMAiSHSGRMI.
    OrthoDBiEOG7F5112.
    PhylomeDBiQ96MR6.
    TreeFamiTF324236.

    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. 2 hits.
    [Graphical view]
    SMARTiSM00320. WD40. 7 hits.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 2 hits.
    SSF50998. SSF50998. 2 hits.
    PROSITEiPS50082. WD_REPEATS_2. 3 hits.
    PS50294. WD_REPEATS_REGION. 2 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96MR6-1) [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

    MSAVVAQTLH VFGLRSHVAN NIFYFDEQII IFPSGNHCVK YNVDQKWQKF     50
    IPGSEKSQGM LALSISPNRR YLAISETVQE KPAITIYELS SIPCRKRKVL 100
    NNFDFQVQKF ISMAFSPDSK YLLAQTSPPE SNLVYWLWEK QKVMAIVRID 150
    TQNNPVYQVS FSPQDNTQVC VTGNGMFKLL RFAEGTLKQT SFQRGEPQNY 200
    LAHTWVADDK IVVGTDTGKL FLFESGDQRW ETSIMVKEPT NGSKSLDVIQ 250
    ESESLIEFPP VSSPLPSYEQ MVAASSHSQM SMPQVFAIAA YSKGFACSAG 300
    PGRVLLFEKM EEKDFYRESR EIRIPVDPQS NDPSQSDKQD VLCLCFSPSE 350
    ETLVASTSKN QLYSITMSLT EISKGEPAHF EYLMYPLHSA PITGLATCIR 400
    KPLIATCSLD RSIRLWNYET NTLELFKEYQ EEAYSISLHP SGHFIVVGFA 450
    DKLRLMNLLI DDIRSFKEYS VRGCGECSFS NGGHLFAAVN GNVIHVYTTT 500
    SLENISSLKG HTGKIRSIVW NADDSKLISG GTDGAVYEWN LSTGKRETEC 550
    VLKSCSYNCV TVSPDAKIIF AVGSDHTLKE IADSLILREI SAFDVTYTAI 600
    VISHSGRMMF VGTSVGTIRA MKYPLPLQKE FNEYQAHAGP ITKMLLTFDD 650
    QFLLTAAEDG CLFTWKVFDK DGRGIKRERE VGFAEEVLVT KTDMEEKAQV 700
    MLELKTRVEE LKMENEYQLR LKDMNYSEKI KELTDKFIQE MESLKTKNQV 750
    LRTEKEKQDV YHHEHIEDLL DKQSRELQDM ECCNNQKLLL EYEKYQELQL 800
    KSQRMQEEYE KQLRDNDETK SQALEELTEF YEAKLQEKTT LLEEAQEDVR 850
    QQLREFEETK KQIEEDEDRE IQDIKTKYEK KLRDEKESNL RLKGETGIMR 900
    KKFSSLQKEI EERTNDIETL KGEQMKLQGV IKSLEKDIQG LKREIQERDE 950
    TIQDKEKRIY DLKKKNQELG KFKFVLDYKI KELKKQIEPR ENEIRVMKEQ 1000
    IQEMEAELEN FHKQNTQLEL NITELWQKLR ATDQEMRRER QKERDLEALV 1050
    KRFKTDLHNC VAYIQEPRLL KEKVRGLFEK YVQRADMVEI AGLNTDLQQE 1100
    YTRQREHLER NLATLKKKVV KEGELHRTDY VRIMQENVSL IKEINELRRE 1150
    LKFTRSQVYD LEAALKLTKK VRPQEVSETE PSRDMLSTAP TARLNEQEET 1200
    GRIIEMQRLE IQRLRDQIQE QEQVTGFHTL AGVRLPSLSN SEVDLEVKTN 1250

    Note: Gene prediction based on similarity to mouse ortholog.

    Length:1,250
    Mass (Da):144,961
    Last modified:July 13, 2010 - v3
    Checksum:iB98CB10A30D64E16
    GO
    Isoform 2 (identifier: Q96MR6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         644-698: MLLTFDDQFL...VTKTDMEEKA → VSRALSPGTQ...HLLTMNILFV
         699-1250: Missing.

    Show »
    Length:698
    Mass (Da):78,164
    Checksum:iF0E20EB330E81809
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Isoform 2 (identifier: Q96MR6-2)
    Sequence conflicti647 – 6471A → T in BAB71217. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti183 – 1831A → S.
    Corresponds to variant rs6663799 [ dbSNP | Ensembl ].
    VAR_026850
    Natural varianti241 – 2411N → D.1 Publication
    Corresponds to variant rs663824 [ dbSNP | Ensembl ].
    VAR_026851
    Natural varianti345 – 3451C → S.
    Corresponds to variant rs11210805 [ dbSNP | Ensembl ].
    VAR_026852
    Natural varianti523 – 5231D → Y in VWS2. 1 Publication
    VAR_066494

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei644 – 69855MLLTF…MEEKA → VSRALSPGTQSHTCLLRALF IPSTSQCLFSLLLLSYLFIH HSLNHHLLTMNILFV in isoform 2. 2 PublicationsVSP_039520Add
    BLAST
    Alternative sequencei699 – 1250552Missing in isoform 2. 2 PublicationsVSP_039521Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK056562 mRNA. Translation: BAB71217.1.
    AL139138, AC093420 Genomic DNA. Translation: CAI18963.1.
    BC117280 mRNA. Translation: AAI17281.1.
    BC117306 mRNA. Translation: AAI17307.1.
    CCDSiCCDS479.1. [Q96MR6-2]
    RefSeqiNP_001161437.1. NM_001167965.1. [Q96MR6-2]
    NP_001182760.2. NM_001195831.2.
    NP_689711.2. NM_152498.3. [Q96MR6-2]
    XP_005270577.1. XM_005270520.1. [Q96MR6-1]
    XP_006710445.1. XM_006710382.1. [Q96MR6-1]
    UniGeneiHs.527565.
    Hs.735676.
    Hs.738994.

    Genome annotation databases

    EnsembliENST00000372492; ENSP00000361570; ENSG00000243710. [Q96MR6-1]
    ENST00000528956; ENSP00000435310; ENSG00000243710. [Q96MR6-2]
    GeneIDi149465.
    KEGGihsa:149465.
    UCSCiuc001cip.2. human. [Q96MR6-2]
    uc021omk.1. human. [Q96MR6-1]

    Polymorphism databases

    DMDMi300669699.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK056562 mRNA. Translation: BAB71217.1 .
    AL139138 , AC093420 Genomic DNA. Translation: CAI18963.1 .
    BC117280 mRNA. Translation: AAI17281.1 .
    BC117306 mRNA. Translation: AAI17307.1 .
    CCDSi CCDS479.1. [Q96MR6-2 ]
    RefSeqi NP_001161437.1. NM_001167965.1. [Q96MR6-2 ]
    NP_001182760.2. NM_001195831.2.
    NP_689711.2. NM_152498.3. [Q96MR6-2 ]
    XP_005270577.1. XM_005270520.1. [Q96MR6-1 ]
    XP_006710445.1. XM_006710382.1. [Q96MR6-1 ]
    UniGenei Hs.527565.
    Hs.735676.
    Hs.738994.

    3D structure databases

    ProteinModelPortali Q96MR6.
    SMRi Q96MR6. Positions 36-126, 347-693.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000296394.

    PTM databases

    PhosphoSitei Q96MR6.

    Polymorphism databases

    DMDMi 300669699.

    Proteomic databases

    MaxQBi Q96MR6.
    PaxDbi Q96MR6.
    PRIDEi Q96MR6.

    Protocols and materials databases

    DNASUi 149465.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000372492 ; ENSP00000361570 ; ENSG00000243710 . [Q96MR6-1 ]
    ENST00000528956 ; ENSP00000435310 ; ENSG00000243710 . [Q96MR6-2 ]
    GeneIDi 149465.
    KEGGi hsa:149465.
    UCSCi uc001cip.2. human. [Q96MR6-2 ]
    uc021omk.1. human. [Q96MR6-1 ]

    Organism-specific databases

    CTDi 149465.
    GeneCardsi GC01P043638.
    HGNCi HGNC:26485. WDR65.
    HPAi HPA002736.
    HPA028623.
    MIMi 606713. phenotype.
    614259. gene.
    neXtProti NX_Q96MR6.
    PharmGKBi PA142670598.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG2319.
    HOGENOMi HOG000231280.
    HOVERGENi HBG091589.
    InParanoidi A6NKQ3.
    OMAi SHSGRMI.
    OrthoDBi EOG7F5112.
    PhylomeDBi Q96MR6.
    TreeFami TF324236.

    Enzyme and pathway databases

    SignaLinki Q96MR6.

    Miscellaneous databases

    GenomeRNAii 149465.
    NextBioi 86160.
    PROi Q96MR6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96MR6.
    Bgeei Q96MR6.
    CleanExi HS_WDR65.
    Genevestigatori Q96MR6.

    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. 2 hits.
    [Graphical view ]
    SMARTi SM00320. WD40. 7 hits.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 2 hits.
    SSF50998. SSF50998. 2 hits.
    PROSITEi PS50082. WD_REPEATS_2. 3 hits.
    PS50294. WD_REPEATS_REGION. 2 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 2).
    2. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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 2).
    4. "Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome."
      Rorick N.K., Kinoshita A., Weirather J.L., Peyrard-Janvid M., de Lima R.L., Dunnwald M., Shanske A.L., Moretti-Ferreira D., Koillinen H., Kere J., Mansilla M.A., Murray J.C., Goudy S.L., Schutte B.C.
      Am. J. Med. Genet. A 155:1314-1321(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ASP-241, VARIANT VWS2 TYR-523.

    Entry informationi

    Entry nameiWDR65_HUMAN
    AccessioniPrimary (citable) accession number: Q96MR6
    Secondary accession number(s): A6NKQ3, Q17RI9, Q5TAI0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 27, 2006
    Last sequence update: July 13, 2010
    Last modified: October 1, 2014
    This is version 103 of the entry and version 3 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 1
      Human chromosome 1: 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