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Protein

F-box only protein 32

Gene

FBXO32

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

Functioni

Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins during skeletal muscle atrophy. Recognizes TERF1.1 Publication

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Ubl conjugation pathway

Enzyme and pathway databases

BioCyciZFISH:ENSG00000156804-MONOMER.
ReactomeiR-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.
SIGNORiQ969P5.
UniPathwayiUPA00143.

Names & Taxonomyi

Protein namesi
Recommended name:
F-box only protein 32
Alternative name(s):
Atrogin-1
Muscle atrophy F-box protein
Short name:
MAFbx
Gene namesi
Name:FBXO32
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:16731. FBXO32.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • nucleoplasm Source: HPA
  • nucleus Source: GO_Central
  • SCF ubiquitin ligase complex Source: UniProtKB
  • Z disc Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Defects in FBXO32 are associated with susceptibility to dilated cardiomyopathy (DCM). A disorder characterized by ventricular and impaired systolic function, resulting in heart failure and arrhythmia. Patient are at risk of premature death.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi169L → Q: Significantly increases nuclear localization. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi114907.
OpenTargetsiENSG00000156804.
PharmGKBiPA28043.

Polymorphism and mutation databases

BioMutaiFBXO32.
DMDMi20177894.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001199221 – 355F-box only protein 32Add BLAST355

Proteomic databases

EPDiQ969P5.
PaxDbiQ969P5.
PeptideAtlasiQ969P5.
PRIDEiQ969P5.

PTM databases

iPTMnetiQ969P5.
PhosphoSitePlusiQ969P5.

Expressioni

Tissue specificityi

Specifically expressed in cardiac and skeletal muscle.

Gene expression databases

BgeeiENSG00000156804.
CleanExiHS_FBXO32.
ExpressionAtlasiQ969P5. baseline and differential.
GenevisibleiQ969P5. HS.

Organism-specific databases

HPAiHPA065209.

Interactioni

Subunit structurei

Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXO32) formed of CUL1, SKP1, RBX1 and FBXO32.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
EIF3FO003037EBI-2932534,EBI-711990

Protein-protein interaction databases

BioGridi125395. 13 interactors.
IntActiQ969P5. 5 interactors.
MINTiMINT-3050095.
STRINGi9606.ENSP00000428205.

Structurei

3D structure databases

ProteinModelPortaliQ969P5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini223 – 271F-boxAdd BLAST49

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi62 – 67Nuclear localization signal1 Publication6
Motifi169 – 173Nuclear export signal5
Motifi280 – 295Bipartite nuclear localization signalAdd BLAST16

Sequence similaritiesi

Contains 1 F-box domain.Curated

Phylogenomic databases

eggNOGiKOG3926. Eukaryota.
ENOG410YPWK. LUCA.
GeneTreeiENSGT00390000004915.
HOGENOMiHOG000263478.
HOVERGENiHBG051572.
InParanoidiQ969P5.
KOiK10305.
OMAiHFTDRQI.
OrthoDBiEOG091G0M92.
PhylomeDBiQ969P5.
TreeFamiTF313070.

Family and domain databases

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q969P5-1) [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 PGQNWVKTAD GWKRFLDEKS GSFVSDLSSY CNKEVYNKEN
60 70 80 90 100
LFNSLNYDVA AKKRKKDMLN SKTKTQYFHQ EKWIYVHKGS TKERHGYCTL
110 120 130 140 150
GEAFNRLDFS TAILDSRRFN YVVRLLELIA KSQLTSLSGI AQKNFMNILE
160 170 180 190 200
KVVLKVLEDQ QNIRLIRELL QTLYTSLCTL VQRVGKSVLV GNINMWVYRM
210 220 230 240 250
ETILHWQQQL NNIQITRPAF KGLTFTDLPL CLQLNIMQRL SDGRDLVSLG
260 270 280 290 300
QAAPDLHVLS EDRLLWKKLC QYHFSERQIR KRLILSDKGQ LDWKKMYFKL
310 320 330 340 350
VRCYPRKEQY GDTLQLCKHC HILSWKGTDH PCTANNPESC SVSLSPQDFI

NLFKF
Length:355
Mass (Da):41,637
Last modified:December 1, 2001 - v1
Checksum:iA0258E5DBEF5CC0E
GO
Isoform 2 (identifier: Q969P5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     124-216: Missing.

Note: No experimental confirmation available.
Show »
Length:262
Mass (Da):30,804
Checksum:iAFE6EDFA0FCD9AA6
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04904556N → S.Corresponds to variant rs6988591dbSNPEnsembl.1
Natural variantiVAR_04904689G → A.Corresponds to variant rs11786471dbSNPEnsembl.1
Natural variantiVAR_076453243G → R Probable disease-associated mutation found in patients with familial dilated cardiomyopathy; impairs the formation of SCF complex; reduced ubiquitination of cellular proteins. 2 PublicationsCorresponds to variant rs771939133dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_042744124 – 216Missing in isoform 2. 1 PublicationAdd BLAST93

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY059629 mRNA. Translation: AAL16407.1.
AJ420108 mRNA. Translation: CAD12251.1.
EF143260 mRNA. Translation: ABO37797.1.
AK056986 mRNA. Translation: BAB71333.1.
AC090193 Genomic DNA. No translation available.
CCDSiCCDS56553.1. [Q969P5-2]
CCDS6345.1. [Q969P5-1]
RefSeqiNP_001229392.1. NM_001242463.1. [Q969P5-2]
NP_478136.1. NM_058229.3. [Q969P5-1]
UniGeneiHs.403933.

Genome annotation databases

EnsembliENST00000443022; ENSP00000390790; ENSG00000156804. [Q969P5-2]
ENST00000517956; ENSP00000428205; ENSG00000156804. [Q969P5-1]
GeneIDi114907.
KEGGihsa:114907.
UCSCiuc003yqr.4. human. [Q969P5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY059629 mRNA. Translation: AAL16407.1.
AJ420108 mRNA. Translation: CAD12251.1.
EF143260 mRNA. Translation: ABO37797.1.
AK056986 mRNA. Translation: BAB71333.1.
AC090193 Genomic DNA. No translation available.
CCDSiCCDS56553.1. [Q969P5-2]
CCDS6345.1. [Q969P5-1]
RefSeqiNP_001229392.1. NM_001242463.1. [Q969P5-2]
NP_478136.1. NM_058229.3. [Q969P5-1]
UniGeneiHs.403933.

3D structure databases

ProteinModelPortaliQ969P5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125395. 13 interactors.
IntActiQ969P5. 5 interactors.
MINTiMINT-3050095.
STRINGi9606.ENSP00000428205.

PTM databases

iPTMnetiQ969P5.
PhosphoSitePlusiQ969P5.

Polymorphism and mutation databases

BioMutaiFBXO32.
DMDMi20177894.

Proteomic databases

EPDiQ969P5.
PaxDbiQ969P5.
PeptideAtlasiQ969P5.
PRIDEiQ969P5.

Protocols and materials databases

DNASUi114907.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000443022; ENSP00000390790; ENSG00000156804. [Q969P5-2]
ENST00000517956; ENSP00000428205; ENSG00000156804. [Q969P5-1]
GeneIDi114907.
KEGGihsa:114907.
UCSCiuc003yqr.4. human. [Q969P5-1]

Organism-specific databases

CTDi114907.
DisGeNETi114907.
GeneCardsiFBXO32.
HGNCiHGNC:16731. FBXO32.
HPAiHPA065209.
MIMi606604. gene.
neXtProtiNX_Q969P5.
OpenTargetsiENSG00000156804.
PharmGKBiPA28043.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3926. Eukaryota.
ENOG410YPWK. LUCA.
GeneTreeiENSGT00390000004915.
HOGENOMiHOG000263478.
HOVERGENiHBG051572.
InParanoidiQ969P5.
KOiK10305.
OMAiHFTDRQI.
OrthoDBiEOG091G0M92.
PhylomeDBiQ969P5.
TreeFamiTF313070.

Enzyme and pathway databases

UniPathwayiUPA00143.
BioCyciZFISH:ENSG00000156804-MONOMER.
ReactomeiR-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.
SIGNORiQ969P5.

Miscellaneous databases

ChiTaRSiFBXO32. human.
GeneWikiiFBXO32.
GenomeRNAii114907.
PROiQ969P5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000156804.
CleanExiHS_FBXO32.
ExpressionAtlasiQ969P5. baseline and differential.
GenevisibleiQ969P5. HS.

Family and domain databases

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

Entry informationi

Entry nameiFBX32_HUMAN
AccessioniPrimary (citable) accession number: Q969P5
Secondary accession number(s): A4KYM0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: December 1, 2001
Last modified: November 2, 2016
This is version 123 of the entry and version 1 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, 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.