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UniProtKB - Q9Y3I1 (FBX7_HUMAN)

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Protein

F-box only protein 7

Gene

FBXO7

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. Recognizes BIRC2 and DLGAP5. Plays a role downstream of PINK1 in the clearance of damaged mitochondria via selective autophagy (mitophagy) by targeting PRKN to dysfunctional depolarized mitochondria. Promotes MFN1 ubiquitination.3 Publications

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

  • protein heterodimerization activity Source: ParkinsonsUK-UCL
  • protein kinase binding Source: ParkinsonsUK-UCL
  • ubiquitin binding Source: ParkinsonsUK-UCL
  • ubiquitin protein ligase binding Source: ParkinsonsUK-UCL
  • ubiquitin-protein transferase activity Source: Reactome
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • autophagy of mitochondrion Source: UniProtKB
  • negative regulation of cyclin-dependent protein serine/threonine kinase activity Source: Ensembl
  • negative regulation of G1/S transition of mitotic cell cycle Source: Ensembl
  • negative regulation of hydrogen peroxide-induced neuron death Source: ParkinsonsUK-UCL
  • negative regulation of lymphocyte differentiation Source: Ensembl
  • negative regulation of oxidative stress-induced neuron death Source: ParkinsonsUK-UCL
  • positive regulation of autophagy of mitochondrion Source: ParkinsonsUK-UCL
  • post-translational protein modification Source: Reactome
  • protein polyubiquitination Source: Reactome
  • protein targeting to mitochondrion Source: UniProtKB
  • protein ubiquitination Source: ParkinsonsUK-UCL
  • regulation of locomotion Source: ParkinsonsUK-UCL
  • regulation of neuron projection development Source: ParkinsonsUK-UCL
  • regulation of protein stability Source: UniProtKB
  • ubiquitin-dependent protein catabolic process Source: ParkinsonsUK-UCL
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processUbl conjugation pathway

Enzyme and pathway databases

ReactomeiR-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
UniPathwayiUPA00143

Names & Taxonomyi

Protein namesi
Recommended name:
F-box only protein 7
Gene namesi
Name:FBXO7
Synonyms:FBX7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100225.17
HGNCiHGNC:13586 FBXO7
MIMi605648 gene
neXtProtiNX_Q9Y3I1

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, Mitochondrion, Nucleus

Pathology & Biotechi

Involvement in diseasei

Parkinson disease 15 (PARK15)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder characterized by parkinsonian and pyramidal signs. Clinical manifestations include tremor, bradykinesia, rigidity, postural instability, spasticity, mainly in the lower limbs, and hyperreflexia.
See also OMIM:260300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047938378R → G in PARK15; no effect on interaction with PRKN. 2 PublicationsCorresponds to variant dbSNP:rs71799110EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi22T → M: Impairs interaction with PRKN. 1 Publication1
Mutagenesisi253V → E: Abolishes interaction with PSMF1. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Parkinson disease, Parkinsonism

Organism-specific databases

DisGeNETi25793
GeneReviewsiFBXO7
MalaCardsiFBXO7
MIMi260300 phenotype
OpenTargetsiENSG00000100225
Orphaneti171695 Parkinsonian-pyramidal syndrome
PharmGKBiPA28047

Polymorphism and mutation databases

BioMutaiFBXO7
DMDMi13124249

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001198851 – 522F-box only protein 7Add BLAST522

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei432Omega-N-methylarginineBy similarity1
Modified residuei451Omega-N-methylarginineBy similarity1
Modified residuei518Asymmetric dimethylarginineBy similarity1

Keywords - PTMi

Methylation

Proteomic databases

EPDiQ9Y3I1
PaxDbiQ9Y3I1
PeptideAtlasiQ9Y3I1
PRIDEiQ9Y3I1
ProteomicsDBi86039
86040 [Q9Y3I1-2]

PTM databases

iPTMnetiQ9Y3I1
PhosphoSitePlusiQ9Y3I1
SwissPalmiQ9Y3I1

Expressioni

Gene expression databases

BgeeiENSG00000100225
CleanExiHS_FBXO7
ExpressionAtlasiQ9Y3I1 baseline and differential
GenevisibleiQ9Y3I1 HS

Organism-specific databases

HPAiCAB034296
HPA032113
HPA032114

Interactioni

Subunit structurei

Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXO7) formed of CUL1, SKP1, RBX1 and FBXO7. Interacts via its C-terminal proline-rich region with DLGAP5. Interacts with BIRC2. Interacts with CDK6 and promotes its interaction with D-type cyclin. Isoform 1 interacts (via the N-terminal Ubl domain) with PRKN. Isoforms that lack the ubiquitin-like domain do not interact with PRKN. Isoform 1 and isoform 2 interact (via N-terminal region) with PINK1. Isoform 3 does not interact with PINK1. Interacts with PSMF1.6 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • protein heterodimerization activity Source: ParkinsonsUK-UCL
  • protein kinase binding Source: ParkinsonsUK-UCL
  • ubiquitin binding Source: ParkinsonsUK-UCL
  • ubiquitin protein ligase binding Source: ParkinsonsUK-UCL
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi117326, 87 interactors
DIPiDIP-36125N
IntActiQ9Y3I1, 37 interactors
MINTiQ9Y3I1
STRINGi9606.ENSP00000266087

Structurei

Secondary structure

1522
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi181 – 190Combined sources10
Helixi195 – 209Combined sources15
Beta strandi213 – 216Combined sources4
Turni220 – 222Combined sources3
Beta strandi228 – 230Combined sources3
Beta strandi233 – 239Combined sources7
Helixi241 – 243Combined sources3
Beta strandi247 – 255Combined sources9
Beta strandi258 – 267Combined sources10
Beta strandi270 – 279Combined sources10
Helixi281 – 283Combined sources3
Helixi287 – 289Combined sources3
Helixi294 – 297Combined sources4
Helixi301 – 311Combined sources11
Helixi313 – 323Combined sources11

3D structure databases

ProteinModelPortaliQ9Y3I1
SMRiQ9Y3I1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini329 – 375F-boxPROSITE-ProRule annotationAdd BLAST47

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 88Ubiquitin-likeAdd BLAST88
Regioni92 – 129Important for interaction with PINK11 PublicationAdd BLAST38
Regioni129 – 169Important for interaction with CDK6Add BLAST41
Regioni180 – 324Important for dimerization and interaction with PSMF11 PublicationAdd BLAST145
Regioni381 – 522Important for interaction with CDK6Add BLAST142

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi481 – 484RFDP motif4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi423 – 514Pro-richAdd BLAST92

Domaini

The ubiquitin-like region mediates interaction with PRKN.
The proline-rich region is important for protein-protein interactions.

Phylogenomic databases

eggNOGiENOG410IGV9 Eukaryota
ENOG410XQUZ LUCA
GeneTreeiENSGT00390000006670
HOGENOMiHOG000112551
HOVERGENiHBG005648
InParanoidiQ9Y3I1
KOiK10293
OMAiLPESFIC
OrthoDBiEOG091G0FNN
PhylomeDBiQ9Y3I1
TreeFamiTF329830

Family and domain databases

InterProiView protein in InterPro
IPR036047 F-box-like_dom_sf
IPR001810 F-box_dom
IPR021625 PI31_Prot_N
IPR029071 Ubiquitin-like_domsf
PfamiView protein in Pfam
PF12937 F-box-like, 1 hit
PF11566 PI31_Prot_N, 1 hit
SMARTiView protein in SMART
SM00256 FBOX, 1 hit
SUPFAMiSSF54236 SSF54236, 1 hit
SSF81383 SSF81383, 1 hit
PROSITEiView protein in PROSITE
PS50181 FBOX, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y3I1-1) [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
MRLRVRLLKR TWPLEVPETE PTLGHLRSHL RQSLLCTWGY SSNTRFTITL 
        60         70         80         90        100
NYKDPLTGDE ETLASYGIVS GDLICLILQD DIPAPNIPSS TDSEHSSLQN 
       110        120        130        140        150
NEQPSLATSS NQTSMQDEQP SDSFQGQAAQ SGVWNDDSML GPSQNFEAES 
       160        170        180        190        200
IQDNAHMAEG TGFYPSEPML CSESVEGQVP HSLETLYQSA DCSDANDALI 
       210        220        230        240        250
VLIHLLMLES GYIPQGTEAK ALSMPEKWKL SGVYKLQYMH PLCEGSSATL 
       260        270        280        290        300
TCVPLGNLIV VNATLKINNE IRSVKRLQLL PESFICKEKL GENVANIYKD 
       310        320        330        340        350
LQKLSRLFKD QLVYPLLAFT RQALNLPDVF GLVVLPLELK LRIFRLLDVR 
       360        370        380        390        400
SVLSLSAVCR DLFTASNDPL LWRFLYLRDF RDNTVRVQDT DWKELYRKRH 
       410        420        430        440        450
IQRKESPKGR FVMLLPSSTH TIPFYPNPLH PRPFPSSRLP PGIIGGEYDQ 
       460        470        480        490        500
RPTLPYVGDP ISSLIPGPGE TPSQFPPLRP RFDPVGPLPG PNPILPGRGG 
       510        520 
PNDRFPFRPS RGRPTDGRLS FM
Length:522
Mass (Da):58,503
Last modified:November 1, 1999 - v1
Checksum:iC4E5E70A0747287A
GO
Isoform 2 (identifier: Q9Y3I1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: Missing.
     80-91: DDIPAPNIPSST → MARPPGGSGPLL

Show »
Length:443
Mass (Da):49,358
Checksum:i263A319CE0096FFB
GO
Isoform 3 (identifier: Q9Y3I1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-114: Missing.

Note: No experimental confirmation available.
Show »
Length:408
Mass (Da):45,781
Checksum:iFE4FE5ECFEAC37C5
GO

Sequence cautioni

The sequence AAF04471 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti79Q → H in AAF04471 (PubMed:10531035).Curated1
Sequence conflicti84A → P in AAF04471 (PubMed:10531035).Curated1
Sequence conflicti154N → S in BAG63187 (PubMed:14702039).Curated1
Sequence conflicti169M → L in AAF04471 (PubMed:10531035).Curated1
Sequence conflicti224M → L in AAF04471 (PubMed:10531035).Curated1
Sequence conflicti241P → H in AAF04471 (PubMed:10531035).Curated1
Sequence conflicti328D → N in AAF04471 (PubMed:10531035).Curated1
Sequence conflicti413M → L in AAF04471 (PubMed:10531035).Curated1
Sequence conflicti475F → L in AAF04471 (PubMed:10531035).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_021408115M → I4 PublicationsCorresponds to variant dbSNP:rs11107EnsemblClinVar.1
Natural variantiVAR_047938378R → G in PARK15; no effect on interaction with PRKN. 2 PublicationsCorresponds to variant dbSNP:rs71799110EnsemblClinVar.1
Natural variantiVAR_066022481R → C Found in two patients with Kufor-Rakeb syndrome also carrying R-877 in ATP13A2. 1 PublicationCorresponds to variant dbSNP:rs148272407Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0447231 – 114Missing in isoform 3. 1 PublicationAdd BLAST114
Alternative sequenceiVSP_0410731 – 79Missing in isoform 2. 1 PublicationAdd BLAST79
Alternative sequenceiVSP_04107480 – 91DDIPA…IPSST → MARPPGGSGPLL in isoform 2. 1 PublicationAdd BLAST12

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF233225 mRNA Translation: AAF67155.1
AL050254 mRNA Translation: CAB43356.1
CR456491 mRNA Translation: CAG30377.1
AK297841 mRNA Translation: BAG60175.1
AK301716 mRNA Translation: BAG63187.1
AL021937 Genomic DNA No translation available.
AL035068 Genomic DNA No translation available.
Z71183 Genomic DNA No translation available.
BC008361 mRNA Translation: AAH08361.1
AF129537 mRNA Translation: AAF04471.1 Different initiation.
CCDSiCCDS13907.1 [Q9Y3I1-1]
CCDS46695.1 [Q9Y3I1-2]
CCDS58806.1 [Q9Y3I1-3]
RefSeqiNP_001028196.1, NM_001033024.1 [Q9Y3I1-2]
NP_001244919.1, NM_001257990.1 [Q9Y3I1-3]
NP_036311.3, NM_012179.3 [Q9Y3I1-1]
UniGeneiHs.5912

Genome annotation databases

EnsembliENST00000266087; ENSP00000266087; ENSG00000100225 [Q9Y3I1-1]
ENST00000397426; ENSP00000380571; ENSG00000100225 [Q9Y3I1-3]
ENST00000452138; ENSP00000388547; ENSG00000100225 [Q9Y3I1-2]
GeneIDi25793
KEGGihsa:25793
UCSCiuc003amq.4 human [Q9Y3I1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFBX7_HUMAN
AccessioniPrimary (citable) accession number: Q9Y3I1
Secondary accession number(s): B4DNB3
, B4DWX5, Q5TGC4, Q5TI86, Q96HM6, Q9UF21, Q9UKT2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: November 1, 1999
Last modified: July 18, 2018
This is version 173 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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