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Q96MR6

- WDR65_HUMAN

UniProt

Q96MR6 - WDR65_HUMAN

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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

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.
Note: The disease may be caused by mutations affecting the gene represented in this entry.1 Publication
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 65
PRO_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.

Family & Domainsi

Domains and Repeats

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

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili691 – 1057367 Reviewed prediction
Add
BLAST
Coiled coili1095 – 116672 Reviewed prediction
Add
BLAST
Coiled coili1198 – 122528 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Contains 10 WD repeats.

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

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.
VSP_039520Add
BLAST
Alternative sequencei699 – 1250552Missing in isoform 2.
VSP_039521Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Isoform 2 (identifier: Q96MR6-2)
Sequence conflicti647 – 6471A → T in BAB71217. 1 Publication

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

« 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 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: July 9, 2014
This is version 102 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

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