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Protein

F-box only protein 32

Gene

FBXO32

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Biological processUbl conjugation pathway

Enzyme and pathway databases

ReactomeiR-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
SIGNORiQ969P5
UniPathwayi
UPA00143

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

EuPathDBiHostDB:ENSG00000156804.7
HGNCiHGNC:16731 FBXO32
MIMi606604 gene
neXtProtiNX_Q969P5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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.2 Publications

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
ProteomicsDBi75810
75811 [Q969P5-2]

PTM databases

iPTMnetiQ969P5
PhosphoSitePlusiQ969P5

Expressioni

Tissue specificityi

Specifically expressed in cardiac and skeletal muscle.

Gene expression databases

BgeeiENSG00000156804 Expressed in 195 organ(s), highest expression level in quadriceps femoris
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, 30 interactors
IntActiQ969P5, 5 interactors
MINTiQ969P5
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

Phylogenomic databases

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

Family and domain databases

InterProiView protein in InterPro
IPR036047 F-box-like_dom_sf
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 dbSNP:rs6988591Ensembl.1
Natural variantiVAR_04904689G → A. Corresponds to variant dbSNP:rs11786471Ensembl.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 dbSNP:rs771939133Ensembl.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

Similar proteinsi

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, 30 interactors
IntActiQ969P5, 5 interactors
MINTiQ969P5
STRINGi9606.ENSP00000428205

PTM databases

iPTMnetiQ969P5
PhosphoSitePlusiQ969P5

Polymorphism and mutation databases

BioMutaiFBXO32
DMDMi20177894

Proteomic databases

EPDiQ969P5
PaxDbiQ969P5
PeptideAtlasiQ969P5
PRIDEiQ969P5
ProteomicsDBi75810
75811 [Q969P5-2]

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
EuPathDBiHostDB:ENSG00000156804.7
GeneCardsiFBXO32
HGNCiHGNC:16731 FBXO32
HPAiHPA065209
MIMi606604 gene
neXtProtiNX_Q969P5
OpenTargetsiENSG00000156804
PharmGKBiPA28043
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

UniPathwayi
UPA00143

ReactomeiR-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
SIGNORiQ969P5

Miscellaneous databases

ChiTaRSiFBXO32 human
GeneWikiiFBXO32
GenomeRNAii114907
PROiPR:Q969P5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000156804 Expressed in 195 organ(s), highest expression level in quadriceps femoris
CleanExiHS_FBXO32
ExpressionAtlasiQ969P5 baseline and differential
GenevisibleiQ969P5 HS

Family and domain databases

InterProiView protein in InterPro
IPR036047 F-box-like_dom_sf
SUPFAMiSSF81383 SSF81383, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiFBX32_HUMAN
AccessioniPrimary (citable) accession number: Q969P5
Secondary accession number(s): A4KYM0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: December 1, 2001
Last modified: November 7, 2018
This is version 135 of the entry and version 1 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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