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Q96MR6 (WDR65_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 100. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
WD repeat-containing protein 65
Gene names
Name:WDR65
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1250 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Induction

May be an IRF6-target.

Involvement in disease

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. Ref.4

Sequence similarities

Contains 10 WD repeats.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   DomainCoiled coil
Repeat
WD repeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96MR6-1)

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.
Note: Gene prediction based on similarity to mouse ortholog.
Isoform 2 (identifier: Q96MR6-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12501250WD repeat-containing protein 65
PRO_0000242653

Regions

Repeat105 – 14844WD 1
Repeat151 – 19040WD 2
Repeat195 – 23339WD 3
Repeat336 – 37540WD 4
Repeat387 – 42640WD 5
Repeat428 – 47043WD 6
Repeat472 – 50736WD 7
Repeat510 – 54940WD 8
Repeat552 – 59140WD 9
Repeat636 – 67540WD 10
Coiled coil691 – 1057367 Potential
Coiled coil1095 – 116672 Potential
Coiled coil1198 – 122528 Potential

Natural variations

Alternative sequence644 – 69855MLLTF…MEEKA → VSRALSPGTQSHTCLLRALF IPSTSQCLFSLLLLSYLFIH HSLNHHLLTMNILFV in isoform 2.
VSP_039520
Alternative sequence699 – 1250552Missing in isoform 2.
VSP_039521
Natural variant1831A → S.
Corresponds to variant rs6663799 [ dbSNP | Ensembl ].
VAR_026850
Natural variant2411N → D. Ref.4
Corresponds to variant rs663824 [ dbSNP | Ensembl ].
VAR_026851
Natural variant3451C → S.
Corresponds to variant rs11210805 [ dbSNP | Ensembl ].
VAR_026852
Natural variant5231D → Y in VWS2. Ref.4
VAR_066494

Experimental info

Isoform 2:
Sequence conflict6471A → T in BAB71217. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 13, 2010. Version 3.
Checksum: B98CB10A30D64E16

FASTA1,250144,961
        10         20         30         40         50         60 
MSAVVAQTLH VFGLRSHVAN NIFYFDEQII IFPSGNHCVK YNVDQKWQKF IPGSEKSQGM 

        70         80         90        100        110        120 
LALSISPNRR YLAISETVQE KPAITIYELS SIPCRKRKVL NNFDFQVQKF ISMAFSPDSK 

       130        140        150        160        170        180 
YLLAQTSPPE SNLVYWLWEK QKVMAIVRID TQNNPVYQVS FSPQDNTQVC VTGNGMFKLL 

       190        200        210        220        230        240 
RFAEGTLKQT SFQRGEPQNY LAHTWVADDK IVVGTDTGKL FLFESGDQRW ETSIMVKEPT 

       250        260        270        280        290        300 
NGSKSLDVIQ ESESLIEFPP VSSPLPSYEQ MVAASSHSQM SMPQVFAIAA YSKGFACSAG 

       310        320        330        340        350        360 
PGRVLLFEKM EEKDFYRESR EIRIPVDPQS NDPSQSDKQD VLCLCFSPSE ETLVASTSKN 

       370        380        390        400        410        420 
QLYSITMSLT EISKGEPAHF EYLMYPLHSA PITGLATCIR KPLIATCSLD RSIRLWNYET 

       430        440        450        460        470        480 
NTLELFKEYQ EEAYSISLHP SGHFIVVGFA DKLRLMNLLI DDIRSFKEYS VRGCGECSFS 

       490        500        510        520        530        540 
NGGHLFAAVN GNVIHVYTTT SLENISSLKG HTGKIRSIVW NADDSKLISG GTDGAVYEWN 

       550        560        570        580        590        600 
LSTGKRETEC VLKSCSYNCV TVSPDAKIIF AVGSDHTLKE IADSLILREI SAFDVTYTAI 

       610        620        630        640        650        660 
VISHSGRMMF VGTSVGTIRA MKYPLPLQKE FNEYQAHAGP ITKMLLTFDD QFLLTAAEDG 

       670        680        690        700        710        720 
CLFTWKVFDK DGRGIKRERE VGFAEEVLVT KTDMEEKAQV MLELKTRVEE LKMENEYQLR 

       730        740        750        760        770        780 
LKDMNYSEKI KELTDKFIQE MESLKTKNQV LRTEKEKQDV YHHEHIEDLL DKQSRELQDM 

       790        800        810        820        830        840 
ECCNNQKLLL EYEKYQELQL KSQRMQEEYE KQLRDNDETK SQALEELTEF YEAKLQEKTT 

       850        860        870        880        890        900 
LLEEAQEDVR QQLREFEETK KQIEEDEDRE IQDIKTKYEK KLRDEKESNL RLKGETGIMR 

       910        920        930        940        950        960 
KKFSSLQKEI EERTNDIETL KGEQMKLQGV IKSLEKDIQG LKREIQERDE TIQDKEKRIY 

       970        980        990       1000       1010       1020 
DLKKKNQELG KFKFVLDYKI KELKKQIEPR ENEIRVMKEQ IQEMEAELEN FHKQNTQLEL 

      1030       1040       1050       1060       1070       1080 
NITELWQKLR ATDQEMRRER QKERDLEALV KRFKTDLHNC VAYIQEPRLL KEKVRGLFEK 

      1090       1100       1110       1120       1130       1140 
YVQRADMVEI AGLNTDLQQE YTRQREHLER NLATLKKKVV KEGELHRTDY VRIMQENVSL 

      1150       1160       1170       1180       1190       1200 
IKEINELRRE LKFTRSQVYD LEAALKLTKK VRPQEVSETE PSRDMLSTAP TARLNEQEET 

      1210       1220       1230       1240       1250 
GRIIEMQRLE IQRLRDQIQE QEQVTGFHTL AGVRLPSLSN SEVDLEVKTN 

« Hide

Isoform 2 [UniParc].

Checksum: F0E20EB330E81809
Show »

FASTA69878,164

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK056562 mRNA. Translation: BAB71217.1.
AL139138, AC093420 Genomic DNA. Translation: CAI18963.1.
BC117280 mRNA. Translation: AAI17281.1.
BC117306 mRNA. Translation: AAI17307.1.
RefSeqNP_001161437.1. NM_001167965.1.
NP_001182760.2. NM_001195831.2.
NP_689711.2. NM_152498.3.
XP_005270577.1. XM_005270520.1.
UniGeneHs.527565.
Hs.735676.
Hs.738994.

3D structure databases

ProteinModelPortalQ96MR6.
SMRQ96MR6. Positions 36-126, 347-693.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000296394.

PTM databases

PhosphoSiteQ96MR6.

Polymorphism databases

DMDM300669699.

Proteomic databases

PaxDbQ96MR6.
PRIDEQ96MR6.

Protocols and materials databases

DNASU149465.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000372492; ENSP00000361570; ENSG00000243710. [Q96MR6-1]
ENST00000528956; ENSP00000435310; ENSG00000243710. [Q96MR6-2]
GeneID149465.
KEGGhsa:149465.
UCSCuc001cip.2. human. [Q96MR6-2]
uc021omk.1. human. [Q96MR6-1]

Organism-specific databases

CTD149465.
GeneCardsGC01P043638.
HGNCHGNC:26485. WDR65.
HPAHPA002736.
HPA028623.
MIM606713. phenotype.
614259. gene.
neXtProtNX_Q96MR6.
PharmGKBPA142670598.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2319.
HOGENOMHOG000231280.
HOVERGENHBG091589.
InParanoidA6NKQ3.
OMASHSGRMI.
OrthoDBEOG7F5112.
PhylomeDBQ96MR6.
TreeFamTF324236.

Enzyme and pathway databases

SignaLinkQ96MR6.

Gene expression databases

ArrayExpressQ96MR6.
BgeeQ96MR6.
CleanExHS_WDR65.
GenevestigatorQ96MR6.

Family and domain databases

Gene3D2.130.10.10. 3 hits.
InterProIPR011047. Quinonprotein_ADH-like_supfam.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF00400. WD40. 2 hits.
[Graphical view]
SMARTSM00320. WD40. 7 hits.
[Graphical view]
SUPFAMSSF50978. SSF50978. 2 hits.
SSF50998. SSF50998. 2 hits.
PROSITEPS50082. WD_REPEATS_2. 3 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi149465.
NextBio86160.
PROQ96MR6.
SOURCESearch...

Entry information

Entry nameWDR65_HUMAN
AccessionPrimary (citable) accession number: Q96MR6
Secondary accession number(s): A6NKQ3, Q17RI9, Q5TAI0
Entry history
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: July 13, 2010
Last modified: April 16, 2014
This is version 100 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM