WDR36_HUMAN
ID WDR36_HUMAN Reviewed; 951 AA.
AC Q8NI36; A2RUS4; Q68E02; Q8N1Q2;
DT 26-APR-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 167.
DE RecName: Full=WD repeat-containing protein 36;
DE AltName: Full=T-cell activation WD repeat-containing protein;
DE Short=TA-WDRP;
GN Name=WDR36;
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 [MRNA].
RX PubMed=15177553; DOI=10.1016/j.ygeno.2003.12.019;
RA Mao M., Biery M.C., Kobayashi S.V., Ward T., Schimmack G., Burchard J.,
RA Schelter J.M., Dai H., He Y.D., Linsley P.S.;
RT "T lymphocyte activation gene identification by coregulated expression on
RT DNA microarrays.";
RL Genomics 83:989-999(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 10-951, AND VARIANT VAL-264.
RC TISSUE=Tongue;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 241-951.
RC TISSUE=Amygdala;
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 [5]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=21051332; DOI=10.1093/hmg/ddq478;
RA Gallenberger M., Meinel D.M., Kroeber M., Wegner M., Milkereit P.,
RA Bosl M.R., Tamm E.R.;
RT "Lack of WDR36 leads to preimplantation embryonic lethality in mice and
RT delays the formation of small subunit ribosomal RNA in human cells in
RT vitro.";
RL Hum. Mol. Genet. 20:422-435(2011).
RN [6]
RP SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
RX PubMed=22002106; DOI=10.1074/mcp.m111.013680;
RA Ahmad Y., Boisvert F.M., Lundberg E., Uhlen M., Lamond A.I.;
RT "Systematic analysis of protein pools, isoforms, and modifications
RT affecting turnover and subcellular localization.";
RL Mol. Cell. Proteomics 11:M111.013680.01-M111.013680.15(2012).
RN [7]
RP INVOLVEMENT IN GLC1G, VARIANTS GLC1G PRO-216; SER-355 AND GLN-529, VARIANTS
RP PRO-25; VAL-163; VAL-264; THR-449; GLY-658 AND VAL-671, AND TISSUE
RP SPECIFICITY.
RX PubMed=15677485; DOI=10.1093/hmg/ddi068;
RA Monemi S., Spaeth G., DaSilva A., Popinchalk S., Ilitchev E., Liebmann J.,
RA Ritch R., Heon E., Crick R.P., Child A., Sarfarazi M.;
RT "Identification of a novel adult-onset primary open-angle glaucoma (POAG)
RT gene on 5q22.1.";
RL Hum. Mol. Genet. 14:725-733(2005).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-438 AND SER-455, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [9]
RP VARIANTS PRO-25; THR-31; GLU-33; VAL-163; PRO-212; VAL-264; THR-449 AND
RP GLY-658, AND VARIANTS GLC1G CYS-97; ALA-403; LEU-411; TYR-411 AND ARG-487.
RX PubMed=18172102; DOI=10.1167/iovs.07-0500;
RA Pasutto F., Mardin C.Y., Michels-Rautenstrauss K., Weber B.H., Sticht H.,
RA Chavarria-Soley G., Rautenstrauss B., Kruse F., Reis A.;
RT "Profiling of WDR36 missense variants in German patients with glaucoma.";
RL Invest. Ophthalmol. Vis. Sci. 49:270-274(2008).
CC -!- FUNCTION: Involved in the nucleolar processing of SSU 18S rRNA.
CC Involved in T-cell activation and highly coregulated with IL2.
CC {ECO:0000269|PubMed:21051332}.
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:21051332,
CC ECO:0000269|PubMed:22002106}.
CC -!- TISSUE SPECIFICITY: Expressed in heart, placenta, liver, skeletal
CC muscle, kidney and pancreas. In ocular tissues, strong expression in
CC iris, sclera, ciliary muscle, ciliary body, retina and optic nerve.
CC {ECO:0000269|PubMed:15677485}.
CC -!- DOMAIN: The WD repeats are grouped into two tandem seven-bladed beta-
CC propeller regions. {ECO:0000250}.
CC -!- DISEASE: Glaucoma 1, open angle, G (GLC1G) [MIM:609887]: A form of
CC primary open angle glaucoma (POAG). POAG is characterized by a specific
CC pattern of optic nerve and visual field defects. The angle of the
CC anterior chamber of the eye is open, and usually the intraocular
CC pressure is increased. However, glaucoma can occur at any intraocular
CC pressure. The disease is generally asymptomatic until the late stages,
CC by which time significant and irreversible optic nerve damage has
CC already taken place. {ECO:0000269|PubMed:15677485,
CC ECO:0000269|PubMed:18172102}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: Depletion of WDR36 mRNA in cultured cells causes
CC apoptotic cell death and consistently associates with a reduced 21S
CC rRNA and delay of 18S rRNA maturation. {ECO:0000305|PubMed:21051332}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04527.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF385437; AAM43838.1; -; mRNA.
DR EMBL; BC133025; AAI33026.1; -; mRNA.
DR EMBL; BC136517; AAI36518.1; -; mRNA.
DR EMBL; AK095312; BAC04527.1; ALT_INIT; mRNA.
DR EMBL; CR749211; CAH18068.1; -; mRNA.
DR RefSeq; NP_644810.1; NM_139281.2.
DR PDB; 7MQ8; EM; 3.60 A; LT=1-951.
DR PDB; 7MQ9; EM; 3.87 A; LT=1-951.
DR PDB; 7MQA; EM; 2.70 A; LT=1-951.
DR PDBsum; 7MQ8; -.
DR PDBsum; 7MQ9; -.
DR PDBsum; 7MQA; -.
DR AlphaFoldDB; Q8NI36; -.
DR SMR; Q8NI36; -.
DR BioGRID; 126399; 222.
DR IntAct; Q8NI36; 32.
DR MINT; Q8NI36; -.
DR STRING; 9606.ENSP00000423067; -.
DR GlyGen; Q8NI36; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8NI36; -.
DR PhosphoSitePlus; Q8NI36; -.
DR SwissPalm; Q8NI36; -.
DR BioMuta; WDR36; -.
DR DMDM; 46577504; -.
DR EPD; Q8NI36; -.
DR jPOST; Q8NI36; -.
DR MassIVE; Q8NI36; -.
DR MaxQB; Q8NI36; -.
DR PaxDb; Q8NI36; -.
DR PeptideAtlas; Q8NI36; -.
DR PRIDE; Q8NI36; -.
DR ProteomicsDB; 73827; -.
DR Antibodypedia; 25310; 51 antibodies from 18 providers.
DR DNASU; 134430; -.
DR GeneID; 134430; -.
DR KEGG; hsa:134430; -.
DR UCSC; uc003kpd.3; human.
DR CTD; 134430; -.
DR DisGeNET; 134430; -.
DR GeneCards; WDR36; -.
DR HGNC; HGNC:30696; WDR36.
DR HPA; ENSG00000134987; Low tissue specificity.
DR MalaCards; WDR36; -.
DR MIM; 609669; gene.
DR MIM; 609887; phenotype.
DR neXtProt; NX_Q8NI36; -.
DR Orphanet; 353225; NON RARE IN EUROPE: Primary adult open-angle glaucoma.
DR PharmGKB; PA134933637; -.
DR VEuPathDB; HostDB:ENSG00000134987; -.
DR eggNOG; KOG1539; Eukaryota.
DR InParanoid; Q8NI36; -.
DR OrthoDB; 388820at2759; -.
DR PhylomeDB; Q8NI36; -.
DR TreeFam; TF300606; -.
DR PathwayCommons; Q8NI36; -.
DR Reactome; R-HSA-6790901; rRNA modification in the nucleus and cytosol.
DR Reactome; R-HSA-6791226; Major pathway of rRNA processing in the nucleolus and cytosol.
DR SignaLink; Q8NI36; -.
DR BioGRID-ORCS; 134430; 408 hits in 1085 CRISPR screens.
DR ChiTaRS; WDR36; human.
DR GeneWiki; WDR36; -.
DR GenomeRNAi; 134430; -.
DR Pharos; Q8NI36; Tbio.
DR PRO; PR:Q8NI36; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q8NI36; protein.
DR Bgee; ENSG00000134987; Expressed in calcaneal tendon and 183 other tissues.
DR ExpressionAtlas; Q8NI36; baseline and differential.
DR Genevisible; Q8NI36; HS.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0034388; C:Pwp2p-containing subcomplex of 90S preribosome; IBA:GO_Central.
DR GO; GO:0032040; C:small-subunit processome; IBA:GO_Central.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
DR GO; GO:0006364; P:rRNA processing; IBA:GO_Central.
DR GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW.
DR Gene3D; 2.130.10.10; -; 2.
DR InterPro; IPR024977; Apc4_WD40_dom.
DR InterPro; IPR007319; SSU_processome_Utp21.
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; PF12894; ANAPC4_WD40; 1.
DR Pfam; PF04192; Utp21; 1.
DR Pfam; PF00400; WD40; 2.
DR SMART; SM00320; WD40; 8.
DR SUPFAM; SSF50978; SSF50978; 2.
DR PROSITE; PS00678; WD_REPEATS_1; 1.
DR PROSITE; PS50082; WD_REPEATS_2; 3.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Disease variant; Glaucoma; Nucleus; Phosphoprotein;
KW Reference proteome; Repeat; Ribosome biogenesis; rRNA processing;
KW Sensory transduction; Vision; WD repeat.
FT CHAIN 1..951
FT /note="WD repeat-containing protein 36"
FT /id="PRO_0000051386"
FT REPEAT 86..119
FT /note="WD 1"
FT REPEAT 128..157
FT /note="WD 2"
FT REPEAT 166..199
FT /note="WD 3"
FT REPEAT 208..242
FT /note="WD 4"
FT REPEAT 249..286
FT /note="WD 5"
FT REPEAT 293..328
FT /note="WD 6"
FT REPEAT 333..376
FT /note="WD 7"
FT REPEAT 383..417
FT /note="WD 8"
FT REPEAT 445..484
FT /note="WD 9"
FT REPEAT 497..531
FT /note="WD 10"
FT REPEAT 542..578
FT /note="WD 11"
FT REPEAT 583..618
FT /note="WD 12"
FT REPEAT 620..661
FT /note="WD 13"
FT REPEAT 663..701
FT /note="WD 14"
FT MOD_RES 438
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 455
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VARIANT 25
FT /note="L -> P (in dbSNP:rs145437203)"
FT /evidence="ECO:0000269|PubMed:15677485,
FT ECO:0000269|PubMed:18172102"
FT /id="VAR_025963"
FT VARIANT 31
FT /note="P -> T (in dbSNP:rs148041801)"
FT /evidence="ECO:0000269|PubMed:18172102"
FT /id="VAR_077608"
FT VARIANT 33
FT /note="D -> E (in dbSNP:rs35629723)"
FT /evidence="ECO:0000269|PubMed:18172102"
FT /id="VAR_077609"
FT VARIANT 97
FT /note="Y -> C (in GLC1G; unknown pathological significance;
FT dbSNP:rs549211166)"
FT /evidence="ECO:0000269|PubMed:18172102"
FT /id="VAR_077610"
FT VARIANT 163
FT /note="A -> V (in dbSNP:rs62376783)"
FT /evidence="ECO:0000269|PubMed:15677485,
FT ECO:0000269|PubMed:18172102"
FT /id="VAR_025964"
FT VARIANT 212
FT /note="H -> P (in dbSNP:rs142088179)"
FT /evidence="ECO:0000269|PubMed:18172102"
FT /id="VAR_077611"
FT VARIANT 216
FT /note="Y -> P (in GLC1G; unknown pathological significance;
FT requires 2 nucleotide substitutions)"
FT /evidence="ECO:0000269|PubMed:15677485"
FT /id="VAR_025965"
FT VARIANT 264
FT /note="I -> V (in dbSNP:rs11241095)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15677485, ECO:0000269|PubMed:18172102"
FT /id="VAR_024700"
FT VARIANT 355
FT /note="N -> S (in GLC1G; dbSNP:rs118204022)"
FT /evidence="ECO:0000269|PubMed:15677485"
FT /id="VAR_025966"
FT VARIANT 403
FT /note="T -> A (in GLC1G; unknown pathological significance;
FT dbSNP:rs771276992)"
FT /evidence="ECO:0000269|PubMed:18172102"
FT /id="VAR_077612"
FT VARIANT 411
FT /note="H -> L (in GLC1G; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:18172102"
FT /id="VAR_077613"
FT VARIANT 411
FT /note="H -> Y (in GLC1G; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:18172102"
FT /id="VAR_077614"
FT VARIANT 449
FT /note="A -> T (in dbSNP:rs35703638)"
FT /evidence="ECO:0000269|PubMed:15677485,
FT ECO:0000269|PubMed:18172102"
FT /id="VAR_025967"
FT VARIANT 454
FT /note="E -> Q (in dbSNP:rs17623803)"
FT /id="VAR_053430"
FT VARIANT 487
FT /note="P -> R (in GLC1G; unknown pathological significance;
FT dbSNP:rs372059163)"
FT /evidence="ECO:0000269|PubMed:18172102"
FT /id="VAR_077615"
FT VARIANT 529
FT /note="R -> Q (in GLC1G; dbSNP:rs116529882)"
FT /evidence="ECO:0000269|PubMed:15677485"
FT /id="VAR_025968"
FT VARIANT 658
FT /note="D -> G (in dbSNP:rs34595252)"
FT /evidence="ECO:0000269|PubMed:15677485,
FT ECO:0000269|PubMed:18172102"
FT /id="VAR_025969"
FT VARIANT 671
FT /note="M -> V (in dbSNP:rs11956837)"
FT /evidence="ECO:0000269|PubMed:15677485"
FT /id="VAR_025970"
FT CONFLICT 371
FT /note="L -> P (in Ref. 4; CAH18068)"
FT /evidence="ECO:0000305"
FT CONFLICT 686
FT /note="L -> P (in Ref. 4; CAH18068)"
FT /evidence="ECO:0000305"
FT CONFLICT 918
FT /note="I -> T (in Ref. 4; CAH18068)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 951 AA; 105322 MW; 7C65FCB65BE91951 CRC64;
MCCTEGSLRK RDSQRAPEAV LCLQLWQRTV PLDTLKGLGT CFPSGPELRG AGIAAAMERA
SERRTASALF AGFRALGLFS NDIPHVVRFS ALKRRFYVTT CVGKSFHTYD VQKLSLVAVS
NSVPQDICCM AADGRLVFAA YGNVFSAFAR NKEIVHTFKG HKAEIHFLQP FGDHIISVDT
DGILIIWHIY SEEEYLQLTF DKSVFKISAI LHPSTYLNKI LLGSEQGSLQ LWNVKSNKLL
YTFPGWKVGV TALQQAPAVD VVAIGLMSGQ VIIHNIKFNE TLMKFRQDWG PITSISFRTD
GHPVMAAGSP CGHIGLWDLE DKKLINQMRN AHSTAIAGLT FLHREPLLVT NGADNALRIW
IFDGPTGEGR LLRFRMGHSA PLTNIRYYGQ NGQQILSASQ DGTLQSFSTV HEKFNKSLGH
GLINKKRVKR KGLQNTMSVR LPPITKFAAE EARESDWDGI IACHQGKLSC STWNYQKSTI
GAYFLKPKEL KKDDITATAV DITSCGNFAV IGLSSGTVDV YNMQSGIHRG SFGKDQAHKG
SVRGVAVDGL NQLTVTTGSE GLLKFWNFKN KILIHSVSLS SSPNIMLLHR DSGILGLALD
DFSISVLDIE TRKIVREFSG HQGQINDMAF SPDGRWLISA AMDCSIRTWD LPSGCLIDCF
LLDSAPLNVS MSPTGDFLAT SHVDHLGIYL WSNISLYSVV SLRPLPADYV PSIVMLPGTC
QTQDVEVSEE TVEPSDELIE YDSPEQLNEQ LVTLSLLPES RWKNLLNLDV IKKKNKPKEP
PKVPKSAPFF IPTIPGLVPR YAAPEQNNDP QQSKVVNLGV LAQKSDFCLK LEEGLVNNKY
DTALNLLKES GPSGIETELR SLSPDCGGSI EVMQSFLKMI GMMLDRKRDF ELAQAYLALF
LKLHLKMLPS EPVLLEEITN LSSQVEENWT HLQSLFNQSM CILNYLKSAL L
