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Q8TCJ0

- FBX25_HUMAN

UniProt

Q8TCJ0 - FBX25_HUMAN

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Protein

F-box only protein 25

Gene

FBXO25

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. May play a role in accumulation of expanded polyglutamine (polyQ) protein huntingtin (HTT) (By similarity).By similarity

Pathwayi

GO - Molecular functioni

  1. ubiquitin-protein transferase activity Source: UniProtKB

GO - Biological processi

  1. protein ubiquitination Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Ubl conjugation pathway

Keywords - Ligandi

Actin-binding

Enzyme and pathway databases

UniPathwayiUPA00143.

Names & Taxonomyi

Protein namesi
Recommended name:
F-box only protein 25
Gene namesi
Name:FBXO25
Synonyms:FBX25
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:13596. FBXO25.

Subcellular locationi

Nucleus 2 Publications
Note: In the nucleus, associates with a subnuclear dot-like structure. Colocalized with SKP1.

GO - Cellular componenti

  1. nucleus Source: UniProtKB
  2. SCF ubiquitin ligase complex Source: UniProtKB
  3. ubiquitin ligase complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving FBXO25 is a cause of X-linked mental retardation (XLMR). Translocation t(X;8)(p11.22;p23.3) with SHROOM4.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi244 – 2441S → L: Loss of SKP1-binding. 1 Publication

Organism-specific databases

PharmGKBiPA28038.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 367367F-box only protein 25PRO_0000119911Add
BLAST

Proteomic databases

MaxQBiQ8TCJ0.
PaxDbiQ8TCJ0.
PRIDEiQ8TCJ0.

PTM databases

PhosphoSiteiQ8TCJ0.

Expressioni

Tissue specificityi

Expressed in all brain tissue observed.1 Publication

Gene expression databases

BgeeiQ8TCJ0.
CleanExiHS_FBXO25.
ExpressionAtlasiQ8TCJ0. baseline and differential.
GenevestigatoriQ8TCJ0.

Interactioni

Subunit structurei

Part of a SCF (SKP1-cullin-F-box) protein ligase complex consisting of FBXO25, SKP1, CUL1 and RBX1. Interacts directly with SKP1 and CUL1. Interacts (via C-terminus) with beta-actin (via N-terminus).2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ACTBP607093EBI-6264551,EBI-353944

Protein-protein interaction databases

BioGridi117646. 193 interactions.
IntActiQ8TCJ0. 11 interactions.
STRINGi9606.ENSP00000276326.

Structurei

3D structure databases

ProteinModelPortaliQ8TCJ0.
SMRiQ8TCJ0. Positions 228-305.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini226 – 27449F-boxAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 8383Interaction with beta-actinAdd
BLAST

Domaini

The F-box is necessary for the interaction with SKP1.By similarity

Sequence similaritiesi

Contains 1 F-box domain.Curated

Phylogenomic databases

eggNOGiNOG327896.
GeneTreeiENSGT00390000004915.
HOGENOMiHOG000263478.
HOVERGENiHBG051572.
InParanoidiQ8TCJ0.
KOiK10305.
OMAiDWKLMYF.
PhylomeDBiQ8TCJ0.
TreeFamiTF313070.

Family and domain databases

InterProiIPR001810. F-box_dom.
[Graphical view]
SUPFAMiSSF81383. SSF81383. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8TCJ0-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPFLGQDWRS PGWSWIKTED GWKRCESCSQ KLERENNRCN ISHSIILNSE
60 70 80 90 100
DGEIFNNEEH EYASKKRKKD HFRNDTNTQS FYREKWIYVH KESTKERHGY
110 120 130 140 150
CTLGEAFNRL DFSSAIQDIR RFNYVVKLLQ LIAKSQLTSL SGVAQKNYFN
160 170 180 190 200
ILDKIVQKVL DDHHNPRLIK DLLQDLSSTL CILIRGVGKS VLVGNINIWI
210 220 230 240 250
CRLETILAWQ QQLQDLQMTK QVNNGLTLSD LPLHMLNNIL YRFSDGWDII
260 270 280 290 300
TLGQVTPTLY MLSEDRQLWK KLCQYHFAEK QFCRHLILSE KGHIEWKLMY
310 320 330 340 350
FALQKHYPAK EQYGDTLHFC RHCSILFWKD YHLALLFKDS GHPCTAADPD
360
SCFTPVSPQH FIDLFKF

Note: No experimental confirmation available.

Length:367
Mass (Da):43,313
Last modified:March 15, 2005 - v3
Checksum:i1C1C6AD43A92754F
GO
Isoform 2 (identifier: Q8TCJ0-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     331-339: Missing.

Show »
Length:358
Mass (Da):42,211
Checksum:i11CCEFCA20F3BF37
GO
Isoform 3 (identifier: Q8TCJ0-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-67: Missing.
     68-96: KKDHFRNDTNTQSFYREKWIYVHKESTKE → MEKYSIMKSMNMHRKKGKRTILEMTQILK
     331-339: Missing.

Note: No experimental confirmation available.

Show »
Length:291
Mass (Da):34,067
Checksum:i4222DEAEA61A7487
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti87 – 9610IYVHKESTKE → LILTSVLLFQ in AAF04526. (PubMed:10531035)Curated
Sequence conflicti121 – 1211R → T in AAF04526. (PubMed:10531035)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti36 – 361N → D.
Corresponds to variant rs17665340 [ dbSNP | Ensembl ].
VAR_049043
Natural varianti38 – 381R → H.1 Publication
Corresponds to variant rs10090550 [ dbSNP | Ensembl ].
VAR_061167

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6767Missing in isoform 3. 1 PublicationVSP_013060Add
BLAST
Alternative sequencei68 – 9629KKDHF…ESTKE → MEKYSIMKSMNMHRKKGKRT ILEMTQILK in isoform 3. 1 PublicationVSP_013061Add
BLAST
Alternative sequencei331 – 3399Missing in isoform 2 and isoform 3. 4 PublicationsVSP_007374

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB070270 mRNA. Translation: BAB85128.1.
AF419858 mRNA. Translation: AAP97293.1.
BC020249 mRNA. Translation: AAH20249.1.
BC050393 mRNA. Translation: AAH50393.1.
AF174605 mRNA. Translation: AAF04526.1.
CCDSiCCDS5952.1. [Q8TCJ0-2]
CCDS5953.1. [Q8TCJ0-1]
CCDS5954.1. [Q8TCJ0-3]
RefSeqiNP_036305.2. NM_012173.3. [Q8TCJ0-3]
NP_904356.1. NM_183420.1. [Q8TCJ0-2]
NP_904357.1. NM_183421.1. [Q8TCJ0-1]
UniGeneiHs.438454.

Genome annotation databases

EnsembliENST00000276326; ENSP00000276326; ENSG00000147364. [Q8TCJ0-3]
ENST00000350302; ENSP00000342077; ENSG00000147364. [Q8TCJ0-2]
ENST00000352684; ENSP00000341345; ENSG00000147364. [Q8TCJ0-3]
ENST00000382824; ENSP00000372274; ENSG00000147364. [Q8TCJ0-1]
GeneIDi26260.
KEGGihsa:26260.
UCSCiuc003wox.3. human. [Q8TCJ0-1]
uc003woy.3. human. [Q8TCJ0-2]
uc003woz.3. human. [Q8TCJ0-3]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB070270 mRNA. Translation: BAB85128.1 .
AF419858 mRNA. Translation: AAP97293.1 .
BC020249 mRNA. Translation: AAH20249.1 .
BC050393 mRNA. Translation: AAH50393.1 .
AF174605 mRNA. Translation: AAF04526.1 .
CCDSi CCDS5952.1. [Q8TCJ0-2 ]
CCDS5953.1. [Q8TCJ0-1 ]
CCDS5954.1. [Q8TCJ0-3 ]
RefSeqi NP_036305.2. NM_012173.3. [Q8TCJ0-3 ]
NP_904356.1. NM_183420.1. [Q8TCJ0-2 ]
NP_904357.1. NM_183421.1. [Q8TCJ0-1 ]
UniGenei Hs.438454.

3D structure databases

ProteinModelPortali Q8TCJ0.
SMRi Q8TCJ0. Positions 228-305.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117646. 193 interactions.
IntActi Q8TCJ0. 11 interactions.
STRINGi 9606.ENSP00000276326.

PTM databases

PhosphoSitei Q8TCJ0.

Proteomic databases

MaxQBi Q8TCJ0.
PaxDbi Q8TCJ0.
PRIDEi Q8TCJ0.

Protocols and materials databases

DNASUi 26260.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000276326 ; ENSP00000276326 ; ENSG00000147364 . [Q8TCJ0-3 ]
ENST00000350302 ; ENSP00000342077 ; ENSG00000147364 . [Q8TCJ0-2 ]
ENST00000352684 ; ENSP00000341345 ; ENSG00000147364 . [Q8TCJ0-3 ]
ENST00000382824 ; ENSP00000372274 ; ENSG00000147364 . [Q8TCJ0-1 ]
GeneIDi 26260.
KEGGi hsa:26260.
UCSCi uc003wox.3. human. [Q8TCJ0-1 ]
uc003woy.3. human. [Q8TCJ0-2 ]
uc003woz.3. human. [Q8TCJ0-3 ]

Organism-specific databases

CTDi 26260.
GeneCardsi GC08P000346.
H-InvDB HIX0057066.
HGNCi HGNC:13596. FBXO25.
MIMi 609098. gene.
neXtProti NX_Q8TCJ0.
PharmGKBi PA28038.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG327896.
GeneTreei ENSGT00390000004915.
HOGENOMi HOG000263478.
HOVERGENi HBG051572.
InParanoidi Q8TCJ0.
KOi K10305.
OMAi DWKLMYF.
PhylomeDBi Q8TCJ0.
TreeFami TF313070.

Enzyme and pathway databases

UniPathwayi UPA00143 .

Miscellaneous databases

GenomeRNAii 26260.
NextBioi 48509.
PROi Q8TCJ0.
SOURCEi Search...

Gene expression databases

Bgeei Q8TCJ0.
CleanExi HS_FBXO25.
ExpressionAtlasi Q8TCJ0. baseline and differential.
Genevestigatori Q8TCJ0.

Family and domain databases

InterProi IPR001810. F-box_dom.
[Graphical view ]
SUPFAMi SSF81383. SSF81383. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Expression of Fbx25-containing protein in prostate cancer tissues."
    Tsujiawa K., Mitsui E., Ono Y., Sakamoto K., Konishi N., Yamamoto H.
    Submitted (FEB-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Prostatic carcinoma.
  2. Guo J.H., She X.Y., Yu L.
    Submitted (SEP-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT HIS-38.
    Tissue: Brain and Placenta.
  4. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 87-367 (ISOFORM 2).
  5. Cited for: PROTEIN SEQUENCE OF 110-120; 135-146; 147-154; 190-202 AND 339-366, INTERACTION WITH BETA-ACTIN AND SKP1, IDENTIFICATION IN A SCF PROTEIN LIGASE COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
  6. "Characterization of FBX25, encoding a novel brain-expressed F-box protein."
    Hagens O., Minina E., Schweiger S., Ropers H.-H., Kalscheuer V.
    Biochim. Biophys. Acta 1760:110-118(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH SKP1 AND CUL1, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, MUTAGENESIS OF SER-244.
  7. Cited for: CHROMOSOMAL TRANSLOCATION WITH SHROOM4.
  8. Cited for: SUBCELLULAR LOCATION.

Entry informationi

Entry nameiFBX25_HUMAN
AccessioniPrimary (citable) accession number: Q8TCJ0
Secondary accession number(s): Q6PJ83, Q7Z4V4, Q9UKB8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 9, 2003
Last sequence update: March 15, 2005
Last modified: November 26, 2014
This is version 107 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3