Q3MJ13 (WDR72_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
WD repeat-containing protein 72

Gene names

Name:

WDR72

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	1102 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Involvement in disease	Amelogenesis imperfecta, hypomaturation type, 2A3 (AI2A3) [MIM:613211]: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5
Sequence similarities	Contains 8 WD repeats.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Disease	Amelogenesis imperfecta
Domain	Repeat WD repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1102	1102	WD repeat-containing protein 72		PRO_0000241447
Regions
	Repeat	15 – 54	40	WD 1
	Repeat	60 – 102	43	WD 2
	Repeat	160 – 197	38	WD 3
	Repeat	318 – 362	45	WD 4
	Repeat	402 – 441	40	WD 5
	Repeat	459 – 504	46	WD 6
	Repeat	507 – 552	46	WD 7
	Repeat	555 – 594	40	WD 8
Natural variations
	Natural variant	100	1	M → V. Ref.1 Ref.3 Ref.4 Corresponds to variant rs690346 [ dbSNP | Ensembl ].		VAR_060045
	Natural variant	399	1	K → Q. Corresponds to variant rs35258188 [ dbSNP | Ensembl ].		VAR_057633
	Natural variant	479	1	Q → H. Corresponds to variant rs34123953 [ dbSNP | Ensembl ].		VAR_057634
	Natural variant	781	1	K → E. Corresponds to variant rs60404950 [ dbSNP | Ensembl ].		VAR_062106
	Natural variant	819	1	L → F. Corresponds to variant rs17730281 [ dbSNP | Ensembl ].		VAR_026837
	Natural variant	833	1	S → A. Corresponds to variant rs16966320 [ dbSNP | Ensembl ].		VAR_026838
Experimental info
	Sequence conflict	41	1	L → P in CAD97880. Ref.1
	Sequence conflict	183	1	E → G in CAD97880. Ref.1
	Sequence conflict	306	1	P → L in CAD97880. Ref.1
	Sequence conflict	306	1	P → L in AAI01617. Ref.3
	Sequence conflict	306	1	P → L in AAI01615. Ref.3
	Sequence conflict	610	1	S → P in CAD97880. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q3MJ13 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: 0C32B03612C1BE6C	FASTA	1,102	123,425
	10 20 30 40 50 60 MRTSLQAVAL WGQKAPPHSI TAIMITDDQR TIVTGSQEGQ LCLWNLSHEL KISAKELLFG 70 80 90 100 110 120 HSASVTCLAR ARDFSKQPYI VSAAENGEMC VWNVTNGQCM EKATLPYRHT AICYYHCSFR 130 140 150 160 170 180 MTGEGWLLCC GEYQDVLIID AKTLAVVHSF RSSQFPDWIN CMCIVHSMRI QEDSLLVVSV 190 200 210 220 230 240 AGELKVWDLS SSINSIQEKQ DVYEKESKFL ESLNCQTIRF CTYTERLLLV VFSKCWKVYD 250 260 270 280 290 300 YCDFSLLLTE VSRNGQFFAG GEVIAAHRIL IWTEDGHSYI YQLLNSGLSK SIYPADGRVL 310 320 330 340 350 360 KETIYPHLLC STSVQENKEQ SRPFVMGYMN ERKEPFYKVL FSGEVSGRIT LWHIPDVPVS 370 380 390 400 410 420 KFDGSPREIP VTATWTLQDN FDKHDTMSQS IIDYFSGLKD GAGTAVVTSS EYIPSLDKLI 430 440 450 460 470 480 CGCEDGTIII TQALNAAKAR LLEGGSLVKD SPPHKVLKGH HQSVTSLLYP HGLSSKLDQS 490 500 510 520 530 540 WMLSGDLDSC VILWDIFTEE ILHKFFLEAG PVTSLLMSPE KFKLRGEQII CCVCGDHSVA 550 560 570 580 590 600 LLHLEGKSCL LHARKHLFPV RMIKWHPVEN FLIVGCADDS VYIWEIETGT LERHETGERA 610 620 630 640 650 660 RIILNCCDDS QLVKSVLPIA SETLKHKSIE QRSSSPYQLG PLPCPGLQVE SSCKVTDAKF 670 680 690 700 710 720 CPRPFNVLPV KTKWSNVGFH ILLFDLENLV ELLLPTPLSD VDSSSSFYGG EVLRRAKSTV 730 740 750 760 770 780 EKKTLTLRKS KTACGPLSAE ALAKPITESL AQGDNTIKFS EENDGIKRQK KMKISKKMQP 790 800 810 820 830 840 KPSRKVDASL TIDTAKLFLS CLLPWGVDKD LDYLCIKHLN ILKLQGPISL GISLNEDNFS 850 860 870 880 890 900 LMLPGWDLCN SGMIKDYSGV NLFSRKVLDL SDKYTATLPN QVGIPRGLEN NCDSLRESDT 910 920 930 940 950 960 IVYLLSRLFL VNKLVNMPLE LACRVGSSFR MESIHNKMRG AGNDILNMSS FYSCLRNGKN 970 980 990 1000 1010 1020 ESHVPEADLS LLKLISCWRD QSVQVTEAIQ AVLLAEVQQH MKSLGKIPVN SQPVSMAENG 1030 1040 1050 1060 1070 1080 NCEMKQMLPK LEWTEELELQ CVRNTLPLQT PVSPVKHDSN SNSANFQDVE DMPDRCALEE 1090 1100 SESPGEPRHH SWIAKVCPCK VS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT VAL-100. Tissue: Fetal kidney.
[2]	"Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C. Nature 440:671-675(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], VARIANT VAL-100. Tissue: Heart and Lung.
[4]	"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] OF 1-775, VARIANT VAL-100. Tissue: Kidney.
[5]	"Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta." El-Sayed W., Parry D.A., Shore R.C., Ahmed M., Jafri H., Rashid Y., Al-Bahlani S., Al Harasi S., Kirkham J., Inglehearn C.F., Mighell A.J. Am. J. Hum. Genet. 85:699-705(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN AI2A3.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	BX537884 mRNA. Translation: CAD97880.1. AC024061 Genomic DNA. No translation available. AC066611 Genomic DNA. No translation available. AC066614 Genomic DNA. No translation available. BC101616 mRNA. Translation: AAI01617.1. BC101614 mRNA. Translation: AAI01615.1. AK096055 mRNA. Translation: BAC04689.1.
IPI	IPI00375927.
RefSeq	NP_877435.2. NM_182758.2.
UniGene	Hs.122125.
3D structure databases
ProteinModelPortal	Q3MJ13.
SMR	Q3MJ13. Positions 20-230, 406-600.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q3MJ13. 1 interaction.
STRING	9606.ENSP00000353699.
PTM databases
PhosphoSite	Q3MJ13.
Polymorphism databases
DMDM	296453027.
Proteomic databases
PaxDb	Q3MJ13.
PRIDE	Q3MJ13.
Protocols and materials databases
DNASU	256764.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000360509; ENSP00000353699; ENSG00000166415. ENST00000396328; ENSP00000379619; ENSG00000166415.
GeneID	256764.
KEGG	hsa:256764.
UCSC	uc002acj.2. human.
Organism-specific databases
CTD	256764.
GeneCards	GC15M053805.
HGNC	HGNC:26790. WDR72.
MIM	613211. phenotype. 613214. gene.
neXtProt	NX_Q3MJ13.
Orphanet	100033. Hypomaturation amelogenesis imperfecta.
PharmGKB	PA142670587.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG292680.
HOGENOM	HOG000168573.
HOVERGEN	HBG098608.
InParanoid	Q3MJ13.
OMA	CLLPWGV.
OrthoDB	EOG41ZF93.
PhylomeDB	Q3MJ13.
Gene expression databases
ArrayExpress	Q3MJ13.
Bgee	Q3MJ13.
CleanEx	HS_WDR72.
Genevestigator	Q3MJ13.
GermOnline	ENSG00000166415. Homo sapiens.
Family and domain databases
Gene3D	2.130.10.10. 2 hits.
InterPro	IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR019775. WD40_repeat_CS. IPR017986. WD40_repeat_dom. [Graphical view]
Pfam	PF00400. WD40. 3 hits. [Graphical view]
SMART	SM00320. WD40. 7 hits. [Graphical view]
SUPFAM	SSF50978. WD40_like. 2 hits.
PROSITE	PS00678. WD_REPEATS_1. 2 hits. PS50082. WD_REPEATS_2. 2 hits. PS50294. WD_REPEATS_REGION. 2 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	256764.
NextBio	92862.
SOURCE	Search...

Entry information

Entry name

WDR72_HUMAN

Accession

Primary (citable) accession number: Q3MJ13
Secondary accession number(s): Q7Z3I3, Q8N8X2

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 27, 2006
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 74 of the entry and version 2 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.