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Protein

WD repeat-containing protein 72

Gene

WDR72

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

Functioni

Plays a major role in formation of tooth enamel (PubMed:19853237, PubMed:25008349). Specifically required during the maturation phase of amelogenesis for normal formation of the enamel matrix and clearance of enamel proteins. May be involved in localization of the calcium transporter SLC24A4 to the ameloblast cell membrane.By similarity2 Publications

GO - Biological processi

Keywordsi

Biological processBiomineralization

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

EuPathDBiHostDB:ENSG00000166415.14
HGNCiHGNC:26790 WDR72
MIMi613214 gene
neXtProtiNX_Q3MJ13

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasmic vesicle

Pathology & Biotechi

Involvement in diseasei

Amelogenesis imperfecta, hypomaturation type, 2A3 (AI2A3)2 Publications
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

DisGeNETi256764
MalaCardsiWDR72
MIMi613211 phenotype
OpenTargetsiENSG00000166415
Orphaneti100033 Hypomaturation amelogenesis imperfecta
PharmGKBiPA142670587

Polymorphism and mutation databases

DMDMi296453027

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002414471 – 1102WD repeat-containing protein 72Add BLAST1102

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1081PhosphoserineBy similarity1
Modified residuei1083PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ3MJ13
PaxDbiQ3MJ13
PeptideAtlasiQ3MJ13
PRIDEiQ3MJ13
ProteomicsDBi61800

PTM databases

iPTMnetiQ3MJ13
PhosphoSitePlusiQ3MJ13

Expressioni

Gene expression databases

BgeeiENSG00000166415 Expressed in 105 organ(s), highest expression level in kidney epithelium
CleanExiHS_WDR72
ExpressionAtlasiQ3MJ13 baseline and differential
GenevisibleiQ3MJ13 HS

Organism-specific databases

HPAiHPA048212
HPA057410
HPA059819

Interactioni

Protein-protein interaction databases

IntActiQ3MJ13, 1 interactor
STRINGi9606.ENSP00000353699

Structurei

3D structure databases

ProteinModelPortaliQ3MJ13
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati15 – 54WD 1Add BLAST40
Repeati60 – 102WD 2Add BLAST43
Repeati160 – 197WD 3Add BLAST38
Repeati318 – 362WD 4Add BLAST45
Repeati402 – 441WD 5Add BLAST40
Repeati459 – 504WD 6Add BLAST46
Repeati507 – 552WD 7Add BLAST46
Repeati555 – 594WD 8Add BLAST40

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410ISIU Eukaryota
ENOG411264G LUCA
GeneTreeiENSGT00520000055590
HOGENOMiHOG000168573
HOVERGENiHBG098608
InParanoidiQ3MJ13
PhylomeDBiQ3MJ13
TreeFamiTF313196

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00400 WD40, 2 hits
SMARTiView protein in SMART
SM00320 WD40, 7 hits
SUPFAMiSSF50978 SSF50978, 2 hits
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 2 hits
PS50082 WD_REPEATS_2, 2 hits
PS50294 WD_REPEATS_REGION, 2 hits

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YKE0H0YKE0_HUMAN
WD repeat-containing protein 72
WDR72
1,112Annotation score:
H0YN02H0YN02_HUMAN
WD repeat-containing protein 72
WDR72
775Annotation score:
H0YLX4H0YLX4_HUMAN
WD repeat-containing protein 72
WDR72
1,099Annotation score:
A0A087WTC3A0A087WTC3_HUMAN
WD repeat-containing protein 72
WDR72
88Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti41L → P in CAD97880 (PubMed:17974005).Curated1
Sequence conflicti183E → G in CAD97880 (PubMed:17974005).Curated1
Sequence conflicti306P → L in CAD97880 (PubMed:17974005).Curated1
Sequence conflicti306P → L in AAI01617 (PubMed:15489334).Curated1
Sequence conflicti306P → L in AAI01615 (PubMed:15489334).Curated1
Sequence conflicti610S → P in CAD97880 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060045100M → V3 PublicationsCorresponds to variant dbSNP:rs690346EnsemblClinVar.1
Natural variantiVAR_057633399K → Q. Corresponds to variant dbSNP:rs35258188EnsemblClinVar.1
Natural variantiVAR_057634479Q → H. Corresponds to variant dbSNP:rs34123953EnsemblClinVar.1
Natural variantiVAR_062106781K → E. Corresponds to variant dbSNP:rs60404950EnsemblClinVar.1
Natural variantiVAR_026837819L → F. Corresponds to variant dbSNP:rs17730281EnsemblClinVar.1
Natural variantiVAR_026838833S → A. Corresponds to variant dbSNP:rs16966320EnsemblClinVar.1

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_011521433.2
XP_011519737.1, XM_011521435.2
XP_016877550.1, XM_017022061.1
UniGeneiHs.122125

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

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_011521433.2
XP_011519737.1, XM_011521435.2
XP_016877550.1, XM_017022061.1
UniGeneiHs.122125

3D structure databases

ProteinModelPortaliQ3MJ13
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ3MJ13, 1 interactor
STRINGi9606.ENSP00000353699

PTM databases

iPTMnetiQ3MJ13
PhosphoSitePlusiQ3MJ13

Polymorphism and mutation databases

DMDMi296453027

Proteomic databases

EPDiQ3MJ13
PaxDbiQ3MJ13
PeptideAtlasiQ3MJ13
PRIDEiQ3MJ13
ProteomicsDBi61800

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
DisGeNETi256764
EuPathDBiHostDB:ENSG00000166415.14
GeneCardsiWDR72
HGNCiHGNC:26790 WDR72
HPAiHPA048212
HPA057410
HPA059819
MalaCardsiWDR72
MIMi613211 phenotype
613214 gene
neXtProtiNX_Q3MJ13
OpenTargetsiENSG00000166415
Orphaneti100033 Hypomaturation amelogenesis imperfecta
PharmGKBiPA142670587
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410ISIU Eukaryota
ENOG411264G LUCA
GeneTreeiENSGT00520000055590
HOGENOMiHOG000168573
HOVERGENiHBG098608
InParanoidiQ3MJ13
PhylomeDBiQ3MJ13
TreeFamiTF313196

Enzyme and pathway databases

SignaLinkiQ3MJ13

Miscellaneous databases

ChiTaRSiWDR72 human
GeneWikiiWDR72
GenomeRNAii256764
PROiPR:Q3MJ13
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000166415 Expressed in 105 organ(s), highest expression level in kidney epithelium
CleanExiHS_WDR72
ExpressionAtlasiQ3MJ13 baseline and differential
GenevisibleiQ3MJ13 HS

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00400 WD40, 2 hits
SMARTiView protein in SMART
SM00320 WD40, 7 hits
SUPFAMiSSF50978 SSF50978, 2 hits
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 2 hits
PS50082 WD_REPEATS_2, 2 hits
PS50294 WD_REPEATS_REGION, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiWDR72_HUMAN
AccessioniPrimary (citable) accession number: Q3MJ13
Secondary accession number(s): Q7Z3I3, Q8N8X2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 111 of the entry and version 2 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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