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Protein

WD repeat-containing protein 72

Gene

WDR72

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

SignaLinkiQ3MJ13.

Names & Taxonomyi

Protein namesi
Recommended name:
WD repeat-containing protein 72
Gene namesi
Name:WDR72
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:26790. WDR72.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: CACAO
  • endosome Source: Ensembl
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Amelogenesis imperfecta, hypomaturation type, 2A3 (AI2A3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613211

Keywords - Diseasei

Amelogenesis imperfecta

Organism-specific databases

MalaCardsiWDR72.
MIMi613211. phenotype.
Orphaneti100033. Hypomaturation amelogenesis imperfecta.
PharmGKBiPA142670587.

Polymorphism and mutation databases

DMDMi296453027.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11021102WD repeat-containing protein 72PRO_0000241447Add
BLAST

Proteomic databases

EPDiQ3MJ13.
PaxDbiQ3MJ13.
PeptideAtlasiQ3MJ13.
PRIDEiQ3MJ13.

PTM databases

iPTMnetiQ3MJ13.
PhosphoSiteiQ3MJ13.

Expressioni

Gene expression databases

BgeeiQ3MJ13.
CleanExiHS_WDR72.
ExpressionAtlasiQ3MJ13. baseline and differential.
GenevisibleiQ3MJ13. HS.

Organism-specific databases

HPAiHPA057410.
HPA059819.

Interactioni

Protein-protein interaction databases

IntActiQ3MJ13. 1 interaction.
STRINGi9606.ENSP00000353699.

Structurei

3D structure databases

ProteinModelPortaliQ3MJ13.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati15 – 5440WD 1Add
BLAST
Repeati60 – 10243WD 2Add
BLAST
Repeati160 – 19738WD 3Add
BLAST
Repeati318 – 36245WD 4Add
BLAST
Repeati402 – 44140WD 5Add
BLAST
Repeati459 – 50446WD 6Add
BLAST
Repeati507 – 55246WD 7Add
BLAST
Repeati555 – 59440WD 8Add
BLAST

Sequence similaritiesi

Contains 8 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410ISIU. Eukaryota.
ENOG411264G. LUCA.
GeneTreeiENSGT00520000055590.
HOGENOMiHOG000168573.
HOVERGENiHBG098608.
InParanoidiQ3MJ13.
OrthoDBiEOG72VH5G.
PhylomeDBiQ3MJ13.
TreeFamiTF313196.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 2 hits.
[Graphical view]
SMARTiSM00320. WD40. 7 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 4 hits.
PROSITEiPS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 2 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q3MJ13-1 [UniParc]FASTAAdd to basket

« Hide

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

VS
Length:1,102
Mass (Da):123,425
Last modified:May 18, 2010 - v2
Checksum:i0C32B03612C1BE6C
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti41 – 411L → P in CAD97880 (PubMed:17974005).Curated
Sequence conflicti183 – 1831E → G in CAD97880 (PubMed:17974005).Curated
Sequence conflicti306 – 3061P → L in CAD97880 (PubMed:17974005).Curated
Sequence conflicti306 – 3061P → L in AAI01617 (PubMed:15489334).Curated
Sequence conflicti306 – 3061P → L in AAI01615 (PubMed:15489334).Curated
Sequence conflicti610 – 6101S → P in CAD97880 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti100 – 1001M → V.3 Publications
Corresponds to variant rs690346 [ dbSNP | Ensembl ].
VAR_060045
Natural varianti399 – 3991K → Q.
Corresponds to variant rs35258188 [ dbSNP | Ensembl ].
VAR_057633
Natural varianti479 – 4791Q → H.
Corresponds to variant rs34123953 [ dbSNP | Ensembl ].
VAR_057634
Natural varianti781 – 7811K → E.
Corresponds to variant rs60404950 [ dbSNP | Ensembl ].
VAR_062106
Natural varianti819 – 8191L → F.
Corresponds to variant rs17730281 [ dbSNP | Ensembl ].
VAR_026837
Natural varianti833 – 8331S → A.
Corresponds to variant rs16966320 [ dbSNP | Ensembl ].
VAR_026838

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS10151.1.
RefSeqiNP_877435.3. NM_182758.3.
XP_011519735.1. XM_011521433.1.
XP_011519736.1. XM_011521434.1.
XP_011519737.1. XM_011521435.1.
UniGeneiHs.122125.

Genome annotation databases

EnsembliENST00000360509; ENSP00000353699; ENSG00000166415.
ENST00000396328; ENSP00000379619; ENSG00000166415.
GeneIDi256764.
KEGGihsa:256764.
UCSCiuc002acj.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS10151.1.
RefSeqiNP_877435.3. NM_182758.3.
XP_011519735.1. XM_011521433.1.
XP_011519736.1. XM_011521434.1.
XP_011519737.1. XM_011521435.1.
UniGeneiHs.122125.

3D structure databases

ProteinModelPortaliQ3MJ13.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ3MJ13. 1 interaction.
STRINGi9606.ENSP00000353699.

PTM databases

iPTMnetiQ3MJ13.
PhosphoSiteiQ3MJ13.

Polymorphism and mutation databases

DMDMi296453027.

Proteomic databases

EPDiQ3MJ13.
PaxDbiQ3MJ13.
PeptideAtlasiQ3MJ13.
PRIDEiQ3MJ13.

Protocols and materials databases

DNASUi256764.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000360509; ENSP00000353699; ENSG00000166415.
ENST00000396328; ENSP00000379619; ENSG00000166415.
GeneIDi256764.
KEGGihsa:256764.
UCSCiuc002acj.3. human.

Organism-specific databases

CTDi256764.
GeneCardsiWDR72.
HGNCiHGNC:26790. WDR72.
HPAiHPA057410.
HPA059819.
MalaCardsiWDR72.
MIMi613211. phenotype.
613214. gene.
neXtProtiNX_Q3MJ13.
Orphaneti100033. Hypomaturation amelogenesis imperfecta.
PharmGKBiPA142670587.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410ISIU. Eukaryota.
ENOG411264G. LUCA.
GeneTreeiENSGT00520000055590.
HOGENOMiHOG000168573.
HOVERGENiHBG098608.
InParanoidiQ3MJ13.
OrthoDBiEOG72VH5G.
PhylomeDBiQ3MJ13.
TreeFamiTF313196.

Enzyme and pathway databases

SignaLinkiQ3MJ13.

Miscellaneous databases

GeneWikiiWDR72.
GenomeRNAii256764.
PROiQ3MJ13.
SOURCEiSearch...

Gene expression databases

BgeeiQ3MJ13.
CleanExiHS_WDR72.
ExpressionAtlasiQ3MJ13. baseline and differential.
GenevisibleiQ3MJ13. HS.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 2 hits.
[Graphical view]
SMARTiSM00320. WD40. 7 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 4 hits.
PROSITEiPS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 2 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. 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.

Entry informationi

Entry nameiWDR72_HUMAN
AccessioniPrimary (citable) accession number: Q3MJ13
Secondary accession number(s): Q7Z3I3, Q8N8X2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: May 18, 2010
Last modified: July 6, 2016
This is version 97 of the entry and version 2 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 15
    Human chromosome 15: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.