FBX25_HUMAN
ID FBX25_HUMAN Reviewed; 367 AA.
AC Q8TCJ0; Q6PJ83; Q7Z4V4; Q9UKB8;
DT 09-MAY-2003, integrated into UniProtKB/Swiss-Prot.
DT 15-MAR-2005, sequence version 3.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=F-box only protein 25;
GN Name=FBXO25; Synonyms=FBX25;
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 2).
RC TISSUE=Prostatic carcinoma;
RA Tsujiawa K., Mitsui E., Ono Y., Sakamoto K., Konishi N., Yamamoto H.;
RT "Expression of Fbx25-containing protein in prostate cancer tissues.";
RL Submitted (FEB-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RA Guo J.H., She X.Y., Yu L.;
RL Submitted (SEP-2001) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND VARIANT
RP HIS-38.
RC TISSUE=Brain, and Placenta;
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 [MRNA] OF 87-367 (ISOFORM 2).
RX PubMed=10531035; DOI=10.1016/s0960-9822(00)80020-2;
RA Cenciarelli C., Chiaur D.S., Guardavaccaro D., Parks W., Vidal M.,
RA Pagano M.;
RT "Identification of a family of human F-box proteins.";
RL Curr. Biol. 9:1177-1179(1999).
RN [5]
RP PROTEIN SEQUENCE OF 110-120; 135-146; 147-154; 190-202 AND 339-366,
RP INTERACTION WITH BETA-ACTIN AND SKP1, IDENTIFICATION IN A SCF PROTEIN
RP LIGASE COMPLEX, AND IDENTIFICATION BY MASS SPECTROMETRY.
RX PubMed=20473970; DOI=10.1002/pmic.200900419;
RA Teixeira F.R., Yokoo S., Gartner C.A., Manfiolli A.O., Baqui M.M.,
RA Assmann E.M., Maragno A.L., Yu H., de Lanerolle P., Kobarg J., Gygi S.P.,
RA Gomes M.D.;
RT "Identification of FBXO25-interacting proteins using an integrated
RT proteomics approach.";
RL Proteomics 10:2746-2757(2010).
RN [6]
RP INTERACTION WITH SKP1 AND CUL1, TISSUE SPECIFICITY, SUBCELLULAR LOCATION,
RP AND MUTAGENESIS OF SER-244.
RX PubMed=16278047; DOI=10.1016/j.bbagen.2005.09.018;
RA Hagens O., Minina E., Schweiger S., Ropers H.-H., Kalscheuer V.;
RT "Characterization of FBX25, encoding a novel brain-expressed F-box
RT protein.";
RL Biochim. Biophys. Acta 1760:110-118(2006).
RN [7]
RP CHROMOSOMAL TRANSLOCATION WITH SHROOM4.
RX PubMed=16249884; DOI=10.1007/s00439-005-0072-2;
RA Hagens O., Dubos A., Abidi F., Barbi G., Van Zutven L., Hoeltzenbein M.,
RA Tommerup N., Moraine C., Fryns J.-P., Chelly J., van Bokhoven H., Gecz J.,
RA Dollfus H., Ropers H.-H., Schwartz C.E., de Cassia Stocco Dos Santos R.,
RA Kalscheuer V., Hanauer A.;
RT "Disruptions of the novel KIAA1202 gene are associated with X-linked mental
RT retardation.";
RL Hum. Genet. 118:578-590(2006).
RN [8]
RP SUBCELLULAR LOCATION.
RX PubMed=18287534; DOI=10.1091/mbc.e07-08-0815;
RA Manfiolli A.O., Maragno A.L., Baqui M.M., Yokoo S., Teixeira F.R.,
RA Oliveira E.B., Gomes M.D.;
RT "FBXO25-associated nuclear domains: a novel subnuclear structure.";
RL Mol. Biol. Cell 19:1848-1861(2008).
CC -!- FUNCTION: Substrate-recognition component of the SCF (SKP1-CUL1-F-box
CC protein)-type E3 ubiquitin ligase complex. May play a role in
CC accumulation of expanded polyglutamine (polyQ) protein huntingtin (HTT)
CC (By similarity). {ECO:0000250}.
CC -!- PATHWAY: Protein modification; protein ubiquitination.
CC -!- SUBUNIT: Part of a SCF (SKP1-cullin-F-box) protein ligase complex
CC consisting of FBXO25, SKP1, CUL1 and RBX1. Interacts directly with SKP1
CC and CUL1. Interacts (via C-terminus) with beta-actin (via N-terminus).
CC {ECO:0000269|PubMed:16278047, ECO:0000269|PubMed:20473970}.
CC -!- INTERACTION:
CC Q8TCJ0-2; P60709: ACTB; NbExp=3; IntAct=EBI-6264551, EBI-353944;
CC Q8TCJ0-3; P49821: NDUFV1; NbExp=3; IntAct=EBI-6262578, EBI-748312;
CC Q8TCJ0-3; P63208: SKP1; NbExp=4; IntAct=EBI-6262578, EBI-307486;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16278047,
CC ECO:0000269|PubMed:18287534}. Note=In the nucleus, associates with a
CC subnuclear dot-like structure. Colocalized with SKP1.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8TCJ0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8TCJ0-2; Sequence=VSP_007374;
CC Name=3;
CC IsoId=Q8TCJ0-3; Sequence=VSP_013060, VSP_013061, VSP_007374;
CC -!- TISSUE SPECIFICITY: Expressed in all brain tissue observed.
CC {ECO:0000269|PubMed:16278047}.
CC -!- DOMAIN: The F-box is necessary for the interaction with SKP1.
CC {ECO:0000250}.
CC -!- DISEASE: Note=A chromosomal aberration involving FBXO25 is a cause of
CC X-linked intellectual disability (XLID). Translocation
CC t(X;8)(p11.22;p23.3) with SHROOM4.
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DR EMBL; AB070270; BAB85128.1; -; mRNA.
DR EMBL; AF419858; AAP97293.1; -; mRNA.
DR EMBL; BC020249; AAH20249.1; -; mRNA.
DR EMBL; BC050393; AAH50393.1; -; mRNA.
DR EMBL; AF174605; AAF04526.1; -; mRNA.
DR CCDS; CCDS5952.1; -. [Q8TCJ0-2]
DR CCDS; CCDS5953.1; -. [Q8TCJ0-1]
DR CCDS; CCDS5954.1; -. [Q8TCJ0-3]
DR RefSeq; NP_036305.2; NM_012173.3. [Q8TCJ0-3]
DR RefSeq; NP_904356.1; NM_183420.1. [Q8TCJ0-2]
DR RefSeq; NP_904357.1; NM_183421.1. [Q8TCJ0-1]
DR RefSeq; XP_011533050.1; XM_011534748.2. [Q8TCJ0-1]
DR RefSeq; XP_016868802.1; XM_017013313.1. [Q8TCJ0-1]
DR AlphaFoldDB; Q8TCJ0; -.
DR BioGRID; 117646; 197.
DR IntAct; Q8TCJ0; 16.
DR STRING; 9606.ENSP00000372274; -.
DR iPTMnet; Q8TCJ0; -.
DR PhosphoSitePlus; Q8TCJ0; -.
DR BioMuta; FBXO25; -.
DR EPD; Q8TCJ0; -.
DR MassIVE; Q8TCJ0; -.
DR MaxQB; Q8TCJ0; -.
DR PaxDb; Q8TCJ0; -.
DR PeptideAtlas; Q8TCJ0; -.
DR PRIDE; Q8TCJ0; -.
DR ProteomicsDB; 74143; -. [Q8TCJ0-1]
DR ProteomicsDB; 74144; -. [Q8TCJ0-2]
DR ProteomicsDB; 74145; -. [Q8TCJ0-3]
DR Antibodypedia; 21946; 156 antibodies from 22 providers.
DR DNASU; 26260; -.
DR Ensembl; ENST00000276326.9; ENSP00000276326.6; ENSG00000147364.17. [Q8TCJ0-3]
DR Ensembl; ENST00000350302.8; ENSP00000342077.4; ENSG00000147364.17. [Q8TCJ0-2]
DR Ensembl; ENST00000352684.2; ENSP00000341345.2; ENSG00000147364.17. [Q8TCJ0-3]
DR Ensembl; ENST00000382824.5; ENSP00000372274.2; ENSG00000147364.17. [Q8TCJ0-1]
DR GeneID; 26260; -.
DR KEGG; hsa:26260; -.
DR MANE-Select; ENST00000350302.8; ENSP00000342077.4; NM_183420.2; NP_904356.1. [Q8TCJ0-2]
DR UCSC; uc003woy.4; human. [Q8TCJ0-1]
DR CTD; 26260; -.
DR DisGeNET; 26260; -.
DR GeneCards; FBXO25; -.
DR HGNC; HGNC:13596; FBXO25.
DR HPA; ENSG00000147364; Tissue enhanced (testis).
DR MIM; 609098; gene.
DR neXtProt; NX_Q8TCJ0; -.
DR OpenTargets; ENSG00000147364; -.
DR PharmGKB; PA28038; -.
DR VEuPathDB; HostDB:ENSG00000147364; -.
DR eggNOG; KOG3926; Eukaryota.
DR GeneTree; ENSGT00390000004915; -.
DR HOGENOM; CLU_065667_0_0_1; -.
DR InParanoid; Q8TCJ0; -.
DR OMA; CTSMSEA; -.
DR OrthoDB; 623008at2759; -.
DR PhylomeDB; Q8TCJ0; -.
DR TreeFam; TF313070; -.
DR PathwayCommons; Q8TCJ0; -.
DR SignaLink; Q8TCJ0; -.
DR UniPathway; UPA00143; -.
DR BioGRID-ORCS; 26260; 18 hits in 1122 CRISPR screens.
DR ChiTaRS; FBXO25; human.
DR GenomeRNAi; 26260; -.
DR Pharos; Q8TCJ0; Tbio.
DR PRO; PR:Q8TCJ0; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q8TCJ0; protein.
DR Bgee; ENSG00000147364; Expressed in left testis and 183 other tissues.
DR ExpressionAtlas; Q8TCJ0; baseline and differential.
DR Genevisible; Q8TCJ0; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; IDA:ParkinsonsUK-UCL.
DR GO; GO:0019005; C:SCF ubiquitin ligase complex; ISS:UniProtKB.
DR GO; GO:0000151; C:ubiquitin ligase complex; NAS:UniProtKB.
DR GO; GO:0003779; F:actin binding; IEA:UniProtKB-KW.
DR GO; GO:0004842; F:ubiquitin-protein transferase activity; NAS:UniProtKB.
DR GO; GO:0016567; P:protein ubiquitination; ISS:UniProtKB.
DR InterPro; IPR036047; F-box-like_dom_sf.
DR InterPro; IPR040394; FBX25/32.
DR PANTHER; PTHR13123; PTHR13123; 1.
DR SUPFAM; SSF81383; SSF81383; 1.
PE 1: Evidence at protein level;
KW Actin-binding; Alternative splicing; Chromosomal rearrangement;
KW Direct protein sequencing; Nucleus; Reference proteome;
KW Ubl conjugation pathway.
FT CHAIN 1..367
FT /note="F-box only protein 25"
FT /id="PRO_0000119911"
FT DOMAIN 226..274
FT /note="F-box"
FT REGION 1..83
FT /note="Interaction with beta-actin"
FT VAR_SEQ 1..67
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_013060"
FT VAR_SEQ 68..96
FT /note="KKDHFRNDTNTQSFYREKWIYVHKESTKE -> MEKYSIMKSMNMHRKKGKR
FT TILEMTQILK (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_013061"
FT VAR_SEQ 331..339
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:10531035,
FT ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1,
FT ECO:0000303|Ref.2"
FT /id="VSP_007374"
FT VARIANT 36
FT /note="N -> D (in dbSNP:rs17665340)"
FT /id="VAR_049043"
FT VARIANT 38
FT /note="R -> H (in dbSNP:rs10090550)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_061167"
FT MUTAGEN 244
FT /note="S->L: Loss of SKP1-binding."
FT /evidence="ECO:0000269|PubMed:16278047"
FT CONFLICT 87..96
FT /note="IYVHKESTKE -> LILTSVLLFQ (in Ref. 4; AAF04526)"
FT /evidence="ECO:0000305"
FT CONFLICT 121
FT /note="R -> T (in Ref. 4; AAF04526)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 367 AA; 43313 MW; 1C1C6AD43A92754F CRC64;
MPFLGQDWRS PGWSWIKTED GWKRCESCSQ KLERENNRCN ISHSIILNSE DGEIFNNEEH
EYASKKRKKD HFRNDTNTQS FYREKWIYVH KESTKERHGY CTLGEAFNRL DFSSAIQDIR
RFNYVVKLLQ LIAKSQLTSL SGVAQKNYFN ILDKIVQKVL DDHHNPRLIK DLLQDLSSTL
CILIRGVGKS VLVGNINIWI CRLETILAWQ QQLQDLQMTK QVNNGLTLSD LPLHMLNNIL
YRFSDGWDII TLGQVTPTLY MLSEDRQLWK KLCQYHFAEK QFCRHLILSE KGHIEWKLMY
FALQKHYPAK EQYGDTLHFC RHCSILFWKD YHLALLFKDS GHPCTAADPD SCFTPVSPQH
FIDLFKF
