FBW12_HUMAN
ID FBW12_HUMAN Reviewed; 464 AA.
AC Q6X9E4; E9PG36; Q494Y9; Q494Z0;
DT 31-AUG-2004, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 2.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=F-box/WD repeat-containing protein 12;
DE AltName: Full=F-box and WD-40 domain-containing protein 12;
DE AltName: Full=F-box only protein 35;
GN Name=FBXW12; Synonyms=FBW12, FBXO12, FBXO35;
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] (ISOFORM 1), TISSUE SPECIFICITY, AND VARIANT
RP ASP-273.
RC TISSUE=Brain;
RX PubMed=15040455; DOI=10.1023/b:mole.0000013502.72069.19;
RA Zeng L., Gu S., Li Y., Wang W., Huang Y., Ye X., Xu J., Zhao E., Ji C.,
RA Ying K., Xie Y., Mao Y.;
RT "cDNA cloning and expression analysis of a novel human F-box domain
RT containing gene.";
RL Mol. Biol. Rep. 31:51-57(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), AND VARIANT
RP ASP-273.
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).
CC -!- FUNCTION: Substrate-recognition component of the SCF (SKP1-CUL1-F-box
CC protein)-type E3 ubiquitin ligase complex. {ECO:0000250}.
CC -!- SUBUNIT: Directly interacts with SKP1 and CUL1. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6X9E4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6X9E4-2; Sequence=VSP_042911;
CC Name=3;
CC IsoId=Q6X9E4-3; Sequence=VSP_044601;
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed.
CC {ECO:0000269|PubMed:15040455}.
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DR EMBL; AY247969; AAP75562.1; -; mRNA.
DR EMBL; AC104448; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC101304; AAI01305.1; -; mRNA.
DR EMBL; BC101305; AAI01306.1; -; mRNA.
DR CCDS; CCDS2764.1; -. [Q6X9E4-1]
DR CCDS; CCDS54577.1; -. [Q6X9E4-3]
DR CCDS; CCDS54578.1; -. [Q6X9E4-2]
DR RefSeq; NP_001153399.1; NM_001159927.1. [Q6X9E4-2]
DR RefSeq; NP_001153401.1; NM_001159929.1. [Q6X9E4-3]
DR RefSeq; NP_996985.2; NM_207102.2. [Q6X9E4-1]
DR RefSeq; XP_016861713.1; XM_017006224.1. [Q6X9E4-1]
DR AlphaFoldDB; Q6X9E4; -.
DR BioGRID; 130052; 12.
DR STRING; 9606.ENSP00000296438; -.
DR iPTMnet; Q6X9E4; -.
DR PhosphoSitePlus; Q6X9E4; -.
DR BioMuta; FBXW12; -.
DR DMDM; 215273983; -.
DR MassIVE; Q6X9E4; -.
DR PaxDb; Q6X9E4; -.
DR PeptideAtlas; Q6X9E4; -.
DR PRIDE; Q6X9E4; -.
DR ProteomicsDB; 20236; -.
DR ProteomicsDB; 67792; -. [Q6X9E4-1]
DR ProteomicsDB; 67793; -. [Q6X9E4-2]
DR Antibodypedia; 30045; 169 antibodies from 22 providers.
DR DNASU; 285231; -.
DR Ensembl; ENST00000296438.9; ENSP00000296438.5; ENSG00000164049.14. [Q6X9E4-1]
DR Ensembl; ENST00000415155.5; ENSP00000414683.1; ENSG00000164049.14. [Q6X9E4-2]
DR Ensembl; ENST00000445170.5; ENSP00000406139.1; ENSG00000164049.14. [Q6X9E4-3]
DR GeneID; 285231; -.
DR KEGG; hsa:285231; -.
DR MANE-Select; ENST00000296438.9; ENSP00000296438.5; NM_207102.2; NP_996985.2.
DR UCSC; uc003csr.3; human. [Q6X9E4-1]
DR CTD; 285231; -.
DR DisGeNET; 285231; -.
DR GeneCards; FBXW12; -.
DR HGNC; HGNC:20729; FBXW12.
DR HPA; ENSG00000164049; Tissue enriched (pancreas).
DR MIM; 609075; gene.
DR neXtProt; NX_Q6X9E4; -.
DR OpenTargets; ENSG00000164049; -.
DR PharmGKB; PA134980842; -.
DR VEuPathDB; HostDB:ENSG00000164049; -.
DR eggNOG; ENOG502QT73; Eukaryota.
DR GeneTree; ENSGT00940000162557; -.
DR HOGENOM; CLU_046549_1_0_1; -.
DR InParanoid; Q6X9E4; -.
DR OMA; PSCYVSK; -.
DR OrthoDB; 770934at2759; -.
DR PhylomeDB; Q6X9E4; -.
DR TreeFam; TF332550; -.
DR PathwayCommons; Q6X9E4; -.
DR Reactome; R-HSA-8951664; Neddylation.
DR Reactome; R-HSA-983168; Antigen processing: Ubiquitination & Proteasome degradation.
DR BioGRID-ORCS; 285231; 13 hits in 1106 CRISPR screens.
DR ChiTaRS; FBXW12; human.
DR GenomeRNAi; 285231; -.
DR Pharos; Q6X9E4; Tdark.
DR PRO; PR:Q6X9E4; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q6X9E4; protein.
DR Bgee; ENSG00000164049; Expressed in body of pancreas and 82 other tissues.
DR ExpressionAtlas; Q6X9E4; baseline and differential.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR Gene3D; 2.130.10.10; -; 1.
DR InterPro; IPR036047; F-box-like_dom_sf.
DR InterPro; IPR001810; F-box_dom.
DR InterPro; IPR011044; Quino_amine_DH_bsu.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR Pfam; PF12937; F-box-like; 1.
DR SMART; SM00256; FBOX; 1.
DR SUPFAM; SSF50969; SSF50969; 1.
DR SUPFAM; SSF81383; SSF81383; 1.
DR PROSITE; PS50181; FBOX; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome; Repeat; Ubl conjugation pathway;
KW WD repeat.
FT CHAIN 1..464
FT /note="F-box/WD repeat-containing protein 12"
FT /id="PRO_0000051000"
FT DOMAIN 1..45
FT /note="F-box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00080"
FT REPEAT 89..132
FT /note="WD 1"
FT REPEAT 136..174
FT /note="WD 2"
FT REPEAT 178..217
FT /note="WD 3"
FT REPEAT 222..263
FT /note="WD 4"
FT REPEAT 270..315
FT /note="WD 5"
FT REPEAT 320..367
FT /note="WD 6"
FT REPEAT 370..407
FT /note="WD 7"
FT REPEAT 416..461
FT /note="WD 8"
FT VAR_SEQ 1..29
FT /note="MEIRLPDLALKRIFSFLDLFGLLQVSQVN -> MSPTHQIQDP (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_044601"
FT VAR_SEQ 136..205
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_042911"
FT VARIANT 6
FT /note="P -> L (in dbSNP:rs17080138)"
FT /id="VAR_057601"
FT VARIANT 166
FT /note="R -> W (in dbSNP:rs6442117)"
FT /id="VAR_057602"
FT VARIANT 273
FT /note="V -> D (in dbSNP:rs6784322)"
FT /evidence="ECO:0000269|PubMed:15040455,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_057603"
FT CONFLICT 278
FT /note="F -> L (in Ref. 3; AAI01306)"
FT /evidence="ECO:0000305"
FT CONFLICT 317
FT /note="T -> P (in Ref. 1; AAP75562)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 464 AA; 53056 MW; DFF81F0D718CEF7B CRC64;
MEIRLPDLAL KRIFSFLDLF GLLQVSQVNK HWNRIADSDY LWRSLSLQRW DCSNFTNQHL
GTHTWKQFFL HQRRKELRLA LAQPHNFIYK VTKNIAFETE LAYLSGNRLT VDEQEKSIIC
SVSPKQELCA WDVQEGTMIW SSPVQEFHFS NLVTLPQMHL AITMDRKKTI KVWNCQDRDA
LAVLPMPQPC YCMEAYLTKD GPFLMVGDAA GDIYTFTLPG LRDVSKVTAF QYGIVLLHCS
PDKKWVFACG TYSRTLPQVF LTESLLRPSE GSVPLSTFLP HKLCASACWT PKVKNRITLM
SQSSTGKKTE FITFDLTTKK TGGQTVIQAY EIASFQVAAH LKCPIWMGAS DGYMIVFTSG
PYLLLFSITG FLLQRFEDHQ AAINNFWVDP CYVLTTSENS VHVYMWEEGG RHPYLRSCCH
LENTWHDHTT DSCISSVMCD NASIVLRVRK VSDSSILVMY SLNT
