Q96MR6 (WDR65_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
WD repeat-containing protein 65

Gene names

Name:

WDR65

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1250 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Coiled coil Repeat WD repeat
Technical term	Complete 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1250	1250	WD repeat-containing protein 65		PRO_0000242653
Regions
	Repeat	105 – 148	44	WD 1
	Repeat	151 – 190	40	WD 2
	Repeat	195 – 233	39	WD 3
	Repeat	336 – 375	40	WD 4
	Repeat	387 – 426	40	WD 5
	Repeat	428 – 470	43	WD 6
	Repeat	472 – 507	36	WD 7
	Repeat	510 – 549	40	WD 8
	Repeat	552 – 591	40	WD 9
	Repeat	636 – 675	40	WD 10
	Coiled coil	691 – 1057	367	Potential
	Coiled coil	1095 – 1166	72	Potential
	Coiled coil	1198 – 1225	28	Potential
Natural variations
	Alternative sequence	644 – 698	55	MLLTF…MEEKA → VSRALSPGTQSHTCLLRALF IPSTSQCLFSLLLLSYLFIH HSLNHHLLTMNILFV in isoform 2.		VSP_039520
	Alternative sequence	699 – 1250	552	Missing in isoform 2.		VSP_039521
	Natural variant	183	1	A → S. Corresponds to variant rs6663799 [ dbSNP | Ensembl ].		VAR_026850
	Natural variant	241	1	N → D. Ref.4 Corresponds to variant rs663824 [ dbSNP | Ensembl ].		VAR_026851
	Natural variant	345	1	C → S. Corresponds to variant rs11210805 [ dbSNP | Ensembl ].		VAR_026852
	Natural variant	523	1	D → Y in VWS2. Ref.4		VAR_066494
Experimental info
Isoform 2:
	Sequence conflict	647	1	A → T in BAB71217. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 13, 2010. Version 3. Checksum: B98CB10A30D64E16	FASTA	1,250	144,961
	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
	Isoform 2 [UniParc]. Checksum: F0E20EB330E81809	FASTA	698	78,164
	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 ITKVSRALSP GTQSHTCLLR 670 680 690 ALFIPSTSQC LFSLLLLSYL FIHHSLNHHL LTMNILFV

References

	« Hide 'large scale' referencesShow '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. , 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.

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.
IPI	IPI00043302. IPI00969184.
RefSeq	NP_001161437.1. NM_001167965.1. NP_001182760.2. NM_001195831.2. NP_689711.2. NM_152498.3.
UniGene	Hs.527565. Hs.735676. Hs.738994.
3D structure databases
ProteinModelPortal	Q96MR6.
SMR	Q96MR6. Positions 344-669.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000296394.
PTM databases
PhosphoSite	Q96MR6.
Polymorphism databases
DMDM	300669699.
Proteomic databases
PaxDb	Q96MR6.
PRIDE	Q96MR6.
Protocols and materials databases
DNASU	149465.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000372492; ENSP00000361570; ENSG00000243710. ENST00000528956; ENSP00000435310; ENSG00000243710.
GeneID	149465.
KEGG	hsa:149465.
UCSC	uc001cip.2. human. uc021omk.1. human.
Organism-specific databases
CTD	149465.
GeneCards	GC01P043638.
HGNC	HGNC:26485. WDR65.
HPA	HPA002736. HPA028623.
MIM	606713. phenotype. 614259. gene.
neXtProt	NX_Q96MR6.
Orphanet	888. Van Der Woude syndrome.
PharmGKB	PA142670598.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2319.
HOGENOM	HOG000231280.
HOVERGEN	HBG091589.
InParanoid	A6NKQ3.
OMA	TERNETQ.
OrthoDB	EOG4BRWJX.
Gene expression databases
ArrayExpress	Q96MR6.
Bgee	Q96MR6.
CleanEx	HS_WDR65.
Genevestigator	Q96MR6.
Family and domain databases
Gene3D	2.130.10.10. 3 hits.
InterPro	IPR009053. Prefoldin. IPR011047. Quinonprotein_ADH-like_supfam. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR017986. WD40_repeat_dom. [Graphical view]
Pfam	PF00400. WD40. 2 hits. [Graphical view]
SMART	SM00320. WD40. 7 hits. [Graphical view]
SUPFAM	SSF46579. Prefoldin. 1 hit. SSF50998. Quin_alc_DH_like. 1 hit. SSF50978. WD40_like. 1 hit.
PROSITE	PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. 3 hits. PS50294. WD_REPEATS_REGION. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	149465.
NextBio	86160.
SOURCE	Search...

Entry information

Entry name

WDR65_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 91 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.