WDR49_HUMAN
ID WDR49_HUMAN Reviewed; 697 AA.
AC Q8IV35; Q8N297;
DT 17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=WD repeat-containing protein 49;
GN Name=WDR49;
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 2).
RC TISSUE=Amygdala;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [3]
RP VARIANT [LARGE SCALE ANALYSIS] HIS-10.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8IV35-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IV35-2; Sequence=VSP_020962;
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DR EMBL; AK090939; BAC03552.1; -; mRNA.
DR EMBL; BC035512; AAH35512.1; -; mRNA.
DR RefSeq; NP_849146.1; NM_178824.3.
DR AlphaFoldDB; Q8IV35; -.
DR BioGRID; 127402; 3.
DR IntAct; Q8IV35; 2.
DR STRING; 9606.ENSP00000311343; -.
DR iPTMnet; Q8IV35; -.
DR PhosphoSitePlus; Q8IV35; -.
DR BioMuta; WDR49; -.
DR DMDM; 74762474; -.
DR EPD; Q8IV35; -.
DR MassIVE; Q8IV35; -.
DR PaxDb; Q8IV35; -.
DR PeptideAtlas; Q8IV35; -.
DR PRIDE; Q8IV35; -.
DR ProteomicsDB; 70650; -. [Q8IV35-1]
DR ProteomicsDB; 70651; -. [Q8IV35-2]
DR Antibodypedia; 33690; 138 antibodies from 18 providers.
DR DNASU; 151790; -.
DR Ensembl; ENST00000308378.7; ENSP00000311343.3; ENSG00000174776.12. [Q8IV35-1]
DR UCSC; uc003feu.2; human. [Q8IV35-1]
DR GeneCards; WDR49; -.
DR HGNC; HGNC:26587; WDR49.
DR HPA; ENSG00000174776; Group enriched (brain, choroid plexus, fallopian tube).
DR neXtProt; NX_Q8IV35; -.
DR OpenTargets; ENSG00000174776; -.
DR PharmGKB; PA134949512; -.
DR VEuPathDB; HostDB:ENSG00000174776; -.
DR eggNOG; KOG0266; Eukaryota.
DR GeneTree; ENSGT00940000160751; -.
DR InParanoid; Q8IV35; -.
DR OMA; GQAKHWQ; -.
DR OrthoDB; 774295at2759; -.
DR PhylomeDB; Q8IV35; -.
DR TreeFam; TF324700; -.
DR PathwayCommons; Q8IV35; -.
DR SignaLink; Q8IV35; -.
DR BioGRID-ORCS; 151790; 7 hits in 1069 CRISPR screens.
DR ChiTaRS; WDR49; human.
DR GenomeRNAi; 151790; -.
DR Pharos; Q8IV35; Tdark.
DR PRO; PR:Q8IV35; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8IV35; protein.
DR Bgee; ENSG00000174776; Expressed in bronchial epithelial cell and 105 other tissues.
DR ExpressionAtlas; Q8IV35; baseline and differential.
DR Genevisible; Q8IV35; HS.
DR Gene3D; 2.130.10.10; -; 2.
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; 2.
DR PRINTS; PR00320; GPROTEINBRPT.
DR SMART; SM00320; WD40; 8.
DR SUPFAM; SSF50978; SSF50978; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 3.
DR PROSITE; PS50082; WD_REPEATS_2; 4.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome; Repeat; WD repeat.
FT CHAIN 1..697
FT /note="WD repeat-containing protein 49"
FT /id="PRO_0000252428"
FT REPEAT 17..56
FT /note="WD 1"
FT REPEAT 60..99
FT /note="WD 2"
FT REPEAT 146..187
FT /note="WD 3"
FT REPEAT 190..229
FT /note="WD 4"
FT REPEAT 281..319
FT /note="WD 5"
FT REPEAT 367..414
FT /note="WD 6"
FT REPEAT 417..457
FT /note="WD 7"
FT REPEAT 473..514
FT /note="WD 8"
FT REGION 339..360
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..175
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_020962"
FT VARIANT 10
FT /note="R -> H (in a colorectal cancer sample; somatic
FT mutation; dbSNP:rs74903439)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035889"
FT VARIANT 651
FT /note="L -> P (in dbSNP:rs13060964)"
FT /id="VAR_027858"
SQ SEQUENCE 697 AA; 79295 MW; 26B69950D315FF73 CRC64;
MAWREKSKKR LNMTSFNIAQ GIHAFDYHSR LNLIATAGIN NKVCLWNPYV VSKPVGVLWG
HSASVIAVQF FVERKQLFSF SKDKVLRLWD IQHQLSIQRI ACSFPKSQDF RCLFHFDEAH
GRLFISFNNQ LALLAMKSEA SKRVKSHEKA VTCVLYNSIL KQVISSDTGS TVSFWMIDTG
QKIKQFTGCH GNAEISTMAL DANETRLLTG STDGTVKIWD FNGYCHHTLN VGQDGAVDIS
QILILKKKIL VTGWERAITV FRPQNFNQFF IQPEEWKGGI QHHDDILCAA FLPPQTLVTG
SYDGEIVLWN NSTENAHHVL HPDYQRLLKS KLDTKPQKLL SAGRSQPSHP MADHSTTGVR
NFEIDTEGKN AVMRLCFLKA RKNTAVTGGA NLVSCGGSGY VRFWDIYKKQ LLAEFLAHSG
VGSIIMSTDK MNRYLTTGDL DGWLKIWNIE EYCLNSSKNK ITKAPTLIRS FQPHEDRISS
LEMCEPGGQL LIISSSADCS ICVTGVCNAP VWIFGQAKHW HIENCLFLPK RDTNLVESEI
QKEISLFSKE ESCLDPTEHS LLNKKNKDDS TYNVRPSEDI NLDIKYKERS TCMKETQKPY
YGEVIKKSFS TFRSLNIGAL EELPEVNKPA FLLDPEKYFR KEPEEERPQI LEAPSLFKTL
KAVFDEKNLF PKEILHHERK AKQLCQEKSC EVKKNKK
