WDR37_HUMAN
ID WDR37_HUMAN Reviewed; 494 AA.
AC Q9Y2I8; A8K976; D3DRQ7; Q5SW03; Q8WVG2; Q9NTJ6;
DT 20-JUN-2001, integrated into UniProtKB/Swiss-Prot.
DT 07-MAR-2006, sequence version 2.
DT 03-AUG-2022, entry version 176.
DE RecName: Full=WD repeat-containing protein 37;
GN Name=WDR37; Synonyms=KIAA0982;
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] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=10231032; DOI=10.1093/dnares/6.1.63;
RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 6:63-70(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
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 GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANTS THR-11 AND
RP LYS-221.
RC TISSUE=Brain;
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 [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [8]
RP INVOLVEMENT IN NOCGUS, AND VARIANTS NOCGUS PHE-119; ILE-125; CYS-129 AND
RP ILE-130.
RX PubMed=31327508; DOI=10.1016/j.ajhg.2019.06.014;
RG Undiagnosed Diseases Network;
RA Kanca O., Andrews J.C., Lee P.T., Patel C., Braddock S.R., Slavotinek A.M.,
RA Cohen J.S., Gubbels C.S., Aldinger K.A., Williams J., Indaram M.,
RA Fatemi A., Yu T.W., Agrawal P.B., Vezina G., Simons C., Crawford J.,
RA Lau C.C., Chung W.K., Markello T.C., Dobyns W.B., Adams D.R., Gahl W.A.,
RA Wangler M.F., Yamamoto S., Bellen H.J., Malicdan M.C.V.;
RT "De novo variants in WDR37 are associated with epilepsy, colobomas,
RT dysmorphism, developmental delay, intellectual disability, and cerebellar
RT hypoplasia.";
RL Am. J. Hum. Genet. 105:413-424(2019).
RN [9]
RP ERRATUM.
RX PubMed=31491411; DOI=10.1016/j.ajhg.2019.07.017;
RG Undiagnosed Diseases Network;
RA Kanca O., Andrews J.C., Lee P.T., Patel C., Braddock S.R., Slavotinek A.M.,
RA Cohen J.S., Gubbels C.S., Aldinger K.A., Williams J., Indaram M.,
RA Fatemi A., Yu T.W., Agrawal P.B., Vezina G., Simons C., Crawford J.,
RA Lau C.C., Chung W.K., Markello T.C., Dobyns W.B., Adams D.R., Gahl W.A.,
RA Wangler M.F., Yamamoto S., Bellen H.J., Malicdan M.C.V.;
RL Am. J. Hum. Genet. 105:672-674(2019).
RN [10]
RP SUBCELLULAR LOCATION, INVOLVEMENT IN NOCGUS, AND VARIANTS NOCGUS PHE-119;
RP ILE-125; CYS-129 AND ILE-130.
RX PubMed=31327510; DOI=10.1016/j.ajhg.2019.06.015;
RA Reis L.M., Sorokina E.A., Thompson S., Muheisen S., Velinov M., Zamora C.,
RA Aylsworth A.S., Semina E.V.;
RT "De novo missense variants in WDR37 cause a severe multisystemic
RT syndrome.";
RL Am. J. Hum. Genet. 105:425-433(2019).
CC -!- INTERACTION:
CC Q9Y2I8-3; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-12369603, EBI-16439278;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:31327510}. Nucleus
CC {ECO:0000269|PubMed:31327510}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9Y2I8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y2I8-2; Sequence=VSP_054011;
CC Name=3;
CC IsoId=Q9Y2I8-3; Sequence=VSP_054012, VSP_054013;
CC -!- DISEASE: Neurooculocardiogenitourinary syndrome (NOCGUS) [MIM:618652]:
CC An autosomal dominant multisystem disorder characterized by significant
CC neurological impairment with structural brain defects and seizures,
CC poor feeding, poor postnatal growth, ocular anomalies, dysmorphic
CC facial features, and variable skeletal, cardiac and genitourinary
CC defects. Death in infancy may occur. {ECO:0000269|PubMed:31327508,
CC ECO:0000269|PubMed:31327510}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA76826.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB023199; BAA76826.2; ALT_INIT; mRNA.
DR EMBL; AL136827; CAB66761.1; -; mRNA.
DR EMBL; AK292591; BAF85280.1; -; mRNA.
DR EMBL; AC022536; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL607085; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471072; EAW86514.1; -; Genomic_DNA.
DR EMBL; CH471072; EAW86516.1; -; Genomic_DNA.
DR EMBL; BC018044; AAH18044.1; -; mRNA.
DR CCDS; CCDS7057.1; -. [Q9Y2I8-1]
DR PIR; T46442; T46442.
DR RefSeq; NP_054742.2; NM_014023.3. [Q9Y2I8-1]
DR AlphaFoldDB; Q9Y2I8; -.
DR SMR; Q9Y2I8; -.
DR BioGRID; 116551; 67.
DR IntAct; Q9Y2I8; 28.
DR MINT; Q9Y2I8; -.
DR STRING; 9606.ENSP00000350954; -.
DR GlyGen; Q9Y2I8; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9Y2I8; -.
DR PhosphoSitePlus; Q9Y2I8; -.
DR SwissPalm; Q9Y2I8; -.
DR BioMuta; WDR37; -.
DR DMDM; 90122397; -.
DR EPD; Q9Y2I8; -.
DR jPOST; Q9Y2I8; -.
DR MassIVE; Q9Y2I8; -.
DR MaxQB; Q9Y2I8; -.
DR PaxDb; Q9Y2I8; -.
DR PeptideAtlas; Q9Y2I8; -.
DR PRIDE; Q9Y2I8; -.
DR ProteomicsDB; 85805; -. [Q9Y2I8-1]
DR Antibodypedia; 23814; 159 antibodies from 21 providers.
DR DNASU; 22884; -.
DR Ensembl; ENST00000263150.9; ENSP00000263150.4; ENSG00000047056.17. [Q9Y2I8-1]
DR Ensembl; ENST00000358220.5; ENSP00000350954.1; ENSG00000047056.17. [Q9Y2I8-1]
DR GeneID; 22884; -.
DR KEGG; hsa:22884; -.
DR MANE-Select; ENST00000263150.9; ENSP00000263150.4; NM_014023.4; NP_054742.2.
DR UCSC; uc001igf.2; human. [Q9Y2I8-1]
DR CTD; 22884; -.
DR DisGeNET; 22884; -.
DR GeneCards; WDR37; -.
DR HGNC; HGNC:31406; WDR37.
DR HPA; ENSG00000047056; Low tissue specificity.
DR MalaCards; WDR37; -.
DR MIM; 618586; gene.
DR MIM; 618652; phenotype.
DR neXtProt; NX_Q9Y2I8; -.
DR OpenTargets; ENSG00000047056; -.
DR PharmGKB; PA134922218; -.
DR VEuPathDB; HostDB:ENSG00000047056; -.
DR eggNOG; KOG0300; Eukaryota.
DR GeneTree; ENSGT00930000150950; -.
DR HOGENOM; CLU_036428_0_0_1; -.
DR InParanoid; Q9Y2I8; -.
DR OMA; WDFREAI; -.
DR OrthoDB; 1338925at2759; -.
DR PhylomeDB; Q9Y2I8; -.
DR TreeFam; TF105876; -.
DR PathwayCommons; Q9Y2I8; -.
DR SignaLink; Q9Y2I8; -.
DR BioGRID-ORCS; 22884; 9 hits in 1083 CRISPR screens.
DR ChiTaRS; WDR37; human.
DR GeneWiki; WDR37; -.
DR GenomeRNAi; 22884; -.
DR Pharos; Q9Y2I8; Tbio.
DR PRO; PR:Q9Y2I8; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q9Y2I8; protein.
DR Bgee; ENSG00000047056; Expressed in secondary oocyte and 185 other tissues.
DR ExpressionAtlas; Q9Y2I8; baseline and differential.
DR Genevisible; Q9Y2I8; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR Gene3D; 2.130.10.10; -; 3.
DR InterPro; IPR020472; G-protein_beta_WD-40_rep.
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; 4.
DR PRINTS; PR00320; GPROTEINBRPT.
DR SMART; SM00320; WD40; 6.
DR SUPFAM; SSF50978; SSF50978; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 2.
DR PROSITE; PS50082; WD_REPEATS_2; 5.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Disease variant; Nucleus;
KW Reference proteome; Repeat; WD repeat.
FT CHAIN 1..494
FT /note="WD repeat-containing protein 37"
FT /id="PRO_0000051387"
FT REPEAT 154..194
FT /note="WD 1"
FT REPEAT 197..236
FT /note="WD 2"
FT REPEAT 279..318
FT /note="WD 3"
FT REPEAT 321..360
FT /note="WD 4"
FT REPEAT 365..403
FT /note="WD 5"
FT REPEAT 406..445
FT /note="WD 6"
FT REPEAT 452..493
FT /note="WD 7"
FT REGION 1..50
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 237..265
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 242
FT /note="S -> SQ (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054011"
FT VAR_SEQ 243..264
FT /note="ISGEDEVECSDKDEPDLDGDVS -> VSTFPYLRMCRMLMSANLRIHL (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_054012"
FT VAR_SEQ 265..494
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_054013"
FT VARIANT 11
FT /note="A -> T (in dbSNP:rs17856557)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_070805"
FT VARIANT 119
FT /note="S -> F (in NOCGUS)"
FT /evidence="ECO:0000269|PubMed:31327508,
FT ECO:0000269|PubMed:31327510"
FT /id="VAR_083347"
FT VARIANT 125
FT /note="T -> I (in NOCGUS)"
FT /evidence="ECO:0000269|PubMed:31327508,
FT ECO:0000269|PubMed:31327510"
FT /id="VAR_083348"
FT VARIANT 129
FT /note="S -> C (in NOCGUS)"
FT /evidence="ECO:0000269|PubMed:31327508,
FT ECO:0000269|PubMed:31327510"
FT /id="VAR_083349"
FT VARIANT 130
FT /note="T -> I (in NOCGUS)"
FT /evidence="ECO:0000269|PubMed:31327508,
FT ECO:0000269|PubMed:31327510"
FT /id="VAR_083350"
FT VARIANT 221
FT /note="Q -> K (in dbSNP:rs17856556)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_070806"
FT VARIANT 225
FT /note="I -> V (in dbSNP:rs2306407)"
FT /id="VAR_025432"
FT CONFLICT 267
FT /note="C -> S (in Ref. 1; BAA76826)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 494 AA; 54665 MW; 49D05A24DD230005 CRC64;
MPTESASCST ARQTKQKRKS HSLSIRRTNS SEQERTGLPR DMLEGQDSKL PSSVRSTLLE
LFGQIEREFE NLYIENLELR REIDTLNERL AAEGQAIDGA ELSKGQLKTK ASHSTSQLSQ
KLKTTYKAST SKIVSSFKTT TSRAACQLVK EYIGHRDGIW DVSVAKTQPV VLGTASADHT
ALLWSIETGK CLVKYAGHVG SVNSIKFHPS EQLALTASGD QTAHIWRYAV QLPTPQPVAD
TSISGEDEVE CSDKDEPDLD GDVSSDCPTI RVPLTSLKSH QGVVIASDWL VGGKQAVTAS
WDRTANLYDV ETSELVHSLT GHDQELTHCC THPTQRLVVT SSRDTTFRLW DFRDPSIHSV
NVFQGHTDTV TSAVFTVGDN VVSGSDDRTV KVWDLKNMRS PIATIRTDSA INRINVCVGQ
KIIALPHDNR QVRLFDMSGV RLARLPRSSR QGHRRMVCCS AWSEDHPVCN LFTCGFDRQA
IGWNINIPAL LQEK
