WDR72_HUMAN
ID WDR72_HUMAN Reviewed; 1102 AA.
AC Q3MJ13; Q7Z3I3; Q8N8X2;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=WD repeat-containing protein 72;
GN Name=WDR72;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-100.
RC TISSUE=Fetal kidney;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-100.
RC TISSUE=Heart, and Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-775, AND VARIANT VAL-100.
RC TISSUE=Kidney;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP INVOLVEMENT IN AI2A3, AND FUNCTION.
RX PubMed=19853237; DOI=10.1016/j.ajhg.2009.09.014;
RA El-Sayed W., Parry D.A., Shore R.C., Ahmed M., Jafri H., Rashid Y.,
RA Al-Bahlani S., Al Harasi S., Kirkham J., Inglehearn C.F., Mighell A.J.;
RT "Mutations in the beta propeller WDR72 cause autosomal-recessive
RT hypomaturation amelogenesis imperfecta.";
RL Am. J. Hum. Genet. 85:699-705(2009).
RN [6]
RP INVOLVEMENT IN AI2A3, AND FUNCTION.
RX PubMed=25008349; DOI=10.1016/j.matbio.2014.06.005;
RA Katsura K.A., Horst J.A., Chandra D., Le T.Q., Nakano Y., Zhang Y.,
RA Horst O.V., Zhu L., Le M.H., DenBesten P.K.;
RT "WDR72 models of structure and function: a stage-specific regulator of
RT enamel mineralization.";
RL Matrix Biol. 38:48-58(2014).
CC -!- FUNCTION: Plays a major role in formation of tooth enamel
CC (PubMed:19853237, PubMed:25008349). Specifically required during the
CC maturation phase of amelogenesis for normal formation of the enamel
CC matrix and clearance of enamel proteins. May be involved in
CC localization of the calcium transporter SLC24A4 to the ameloblast cell
CC membrane. {ECO:0000250|UniProtKB:D3YYM4, ECO:0000269|PubMed:19853237,
CC ECO:0000269|PubMed:25008349}.
CC -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle
CC {ECO:0000250|UniProtKB:D3YYM4}.
CC -!- DISEASE: Amelogenesis imperfecta, hypomaturation type, 2A3 (AI2A3)
CC [MIM:613211]: A defect of enamel formation. The disorder involves both
CC primary and secondary dentitions. The teeth have a shiny agar jelly
CC appearance and the enamel is softer than normal. Brown pigment is
CC present in middle layers of enamel. {ECO:0000269|PubMed:19853237,
CC ECO:0000269|PubMed:25008349}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
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DR EMBL; BX537884; CAD97880.1; -; mRNA.
DR EMBL; AC024061; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC066611; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC066614; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC101616; AAI01617.1; -; mRNA.
DR EMBL; BC101614; AAI01615.1; -; mRNA.
DR EMBL; AK096055; BAC04689.1; -; mRNA.
DR CCDS; CCDS10151.1; -.
DR RefSeq; NP_877435.3; NM_182758.3.
DR RefSeq; XP_011519735.1; XM_011521433.2.
DR RefSeq; XP_011519737.1; XM_011521435.2.
DR RefSeq; XP_016877550.1; XM_017022061.1.
DR AlphaFoldDB; Q3MJ13; -.
DR BioGRID; 129179; 30.
DR IntAct; Q3MJ13; 2.
DR STRING; 9606.ENSP00000379619; -.
DR iPTMnet; Q3MJ13; -.
DR PhosphoSitePlus; Q3MJ13; -.
DR BioMuta; WDR72; -.
DR DMDM; 296453027; -.
DR EPD; Q3MJ13; -.
DR jPOST; Q3MJ13; -.
DR MassIVE; Q3MJ13; -.
DR PaxDb; Q3MJ13; -.
DR PeptideAtlas; Q3MJ13; -.
DR PRIDE; Q3MJ13; -.
DR ProteomicsDB; 61800; -.
DR Antibodypedia; 68374; 13 antibodies from 5 providers.
DR DNASU; 256764; -.
DR Ensembl; ENST00000360509.10; ENSP00000353699.5; ENSG00000166415.15.
DR Ensembl; ENST00000396328.5; ENSP00000379619.1; ENSG00000166415.15.
DR GeneID; 256764; -.
DR KEGG; hsa:256764; -.
DR MANE-Select; ENST00000360509.10; ENSP00000353699.5; NM_182758.4; NP_877435.3.
DR UCSC; uc002acj.3; human.
DR CTD; 256764; -.
DR DisGeNET; 256764; -.
DR GeneCards; WDR72; -.
DR HGNC; HGNC:26790; WDR72.
DR HPA; ENSG00000166415; Tissue enhanced (kidney, liver, thyroid gland).
DR MalaCards; WDR72; -.
DR MIM; 613211; phenotype.
DR MIM; 613214; gene.
DR neXtProt; NX_Q3MJ13; -.
DR OpenTargets; ENSG00000166415; -.
DR Orphanet; 18; Distal renal tubular acidosis.
DR Orphanet; 100033; Hypomaturation amelogenesis imperfecta.
DR PharmGKB; PA142670587; -.
DR VEuPathDB; HostDB:ENSG00000166415; -.
DR eggNOG; KOG4155; Eukaryota.
DR GeneTree; ENSGT00940000160298; -.
DR InParanoid; Q3MJ13; -.
DR OrthoDB; 84170at2759; -.
DR PhylomeDB; Q3MJ13; -.
DR TreeFam; TF313196; -.
DR PathwayCommons; Q3MJ13; -.
DR SignaLink; Q3MJ13; -.
DR BioGRID-ORCS; 256764; 8 hits in 1075 CRISPR screens.
DR ChiTaRS; WDR72; human.
DR GeneWiki; WDR72; -.
DR GenomeRNAi; 256764; -.
DR Pharos; Q3MJ13; Tbio.
DR PRO; PR:Q3MJ13; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q3MJ13; protein.
DR Bgee; ENSG00000166415; Expressed in kidney epithelium and 108 other tissues.
DR ExpressionAtlas; Q3MJ13; baseline and differential.
DR Genevisible; Q3MJ13; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:CACAO.
DR GO; GO:0005768; C:endosome; IEA:Ensembl.
DR GO; GO:0005634; C:nucleus; IEA:Ensembl.
DR GO; GO:0070166; P:enamel mineralization; IEA:Ensembl.
DR GO; GO:0022617; P:extracellular matrix disassembly; IEA:Ensembl.
DR GO; GO:0072659; P:protein localization to plasma membrane; IBA:GO_Central.
DR Gene3D; 2.130.10.10; -; 2.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR019775; WD40_repeat_CS.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR Pfam; PF00400; WD40; 2.
DR SMART; SM00320; WD40; 7.
DR SUPFAM; SSF50978; SSF50978; 2.
DR PROSITE; PS00678; WD_REPEATS_1; 2.
DR PROSITE; PS50082; WD_REPEATS_2; 2.
DR PROSITE; PS50294; WD_REPEATS_REGION; 2.
PE 2: Evidence at transcript level;
KW Amelogenesis imperfecta; Biomineralization; Cytoplasmic vesicle;
KW Phosphoprotein; Reference proteome; Repeat; WD repeat.
FT CHAIN 1..1102
FT /note="WD repeat-containing protein 72"
FT /id="PRO_0000241447"
FT REPEAT 15..54
FT /note="WD 1"
FT REPEAT 60..102
FT /note="WD 2"
FT REPEAT 160..197
FT /note="WD 3"
FT REPEAT 318..362
FT /note="WD 4"
FT REPEAT 402..441
FT /note="WD 5"
FT REPEAT 459..504
FT /note="WD 6"
FT REPEAT 507..552
FT /note="WD 7"
FT REPEAT 555..594
FT /note="WD 8"
FT MOD_RES 1081
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:D3YYM4"
FT MOD_RES 1083
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:D3YYM4"
FT VARIANT 100
FT /note="M -> V (in dbSNP:rs690346)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005"
FT /id="VAR_060045"
FT VARIANT 399
FT /note="K -> Q (in dbSNP:rs35258188)"
FT /id="VAR_057633"
FT VARIANT 479
FT /note="Q -> H (in dbSNP:rs34123953)"
FT /id="VAR_057634"
FT VARIANT 781
FT /note="K -> E (in dbSNP:rs60404950)"
FT /id="VAR_062106"
FT VARIANT 819
FT /note="L -> F (in dbSNP:rs17730281)"
FT /id="VAR_026837"
FT VARIANT 833
FT /note="S -> A (in dbSNP:rs16966320)"
FT /id="VAR_026838"
FT CONFLICT 41
FT /note="L -> P (in Ref. 1; CAD97880)"
FT /evidence="ECO:0000305"
FT CONFLICT 183
FT /note="E -> G (in Ref. 1; CAD97880)"
FT /evidence="ECO:0000305"
FT CONFLICT 306
FT /note="P -> L (in Ref. 1; CAD97880 and 3; AAI01617/
FT AAI01615)"
FT /evidence="ECO:0000305"
FT CONFLICT 610
FT /note="S -> P (in Ref. 1; CAD97880)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1102 AA; 123425 MW; 0C32B03612C1BE6C CRC64;
MRTSLQAVAL WGQKAPPHSI TAIMITDDQR TIVTGSQEGQ LCLWNLSHEL KISAKELLFG
HSASVTCLAR ARDFSKQPYI VSAAENGEMC VWNVTNGQCM EKATLPYRHT AICYYHCSFR
MTGEGWLLCC GEYQDVLIID AKTLAVVHSF RSSQFPDWIN CMCIVHSMRI QEDSLLVVSV
AGELKVWDLS SSINSIQEKQ DVYEKESKFL ESLNCQTIRF CTYTERLLLV VFSKCWKVYD
YCDFSLLLTE VSRNGQFFAG GEVIAAHRIL IWTEDGHSYI YQLLNSGLSK SIYPADGRVL
KETIYPHLLC STSVQENKEQ SRPFVMGYMN ERKEPFYKVL FSGEVSGRIT LWHIPDVPVS
KFDGSPREIP VTATWTLQDN FDKHDTMSQS IIDYFSGLKD GAGTAVVTSS EYIPSLDKLI
CGCEDGTIII TQALNAAKAR LLEGGSLVKD SPPHKVLKGH HQSVTSLLYP HGLSSKLDQS
WMLSGDLDSC VILWDIFTEE ILHKFFLEAG PVTSLLMSPE KFKLRGEQII CCVCGDHSVA
LLHLEGKSCL LHARKHLFPV RMIKWHPVEN FLIVGCADDS VYIWEIETGT LERHETGERA
RIILNCCDDS QLVKSVLPIA SETLKHKSIE QRSSSPYQLG PLPCPGLQVE SSCKVTDAKF
CPRPFNVLPV KTKWSNVGFH ILLFDLENLV ELLLPTPLSD VDSSSSFYGG EVLRRAKSTV
EKKTLTLRKS KTACGPLSAE ALAKPITESL AQGDNTIKFS EENDGIKRQK KMKISKKMQP
KPSRKVDASL TIDTAKLFLS CLLPWGVDKD LDYLCIKHLN ILKLQGPISL GISLNEDNFS
LMLPGWDLCN SGMIKDYSGV NLFSRKVLDL SDKYTATLPN QVGIPRGLEN NCDSLRESDT
IVYLLSRLFL VNKLVNMPLE LACRVGSSFR MESIHNKMRG AGNDILNMSS FYSCLRNGKN
ESHVPEADLS LLKLISCWRD QSVQVTEAIQ AVLLAEVQQH MKSLGKIPVN SQPVSMAENG
NCEMKQMLPK LEWTEELELQ CVRNTLPLQT PVSPVKHDSN SNSANFQDVE DMPDRCALEE
SESPGEPRHH SWIAKVCPCK VS
