Q9Y3I1 (FBX7_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 117.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: F-box only protein 7 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 522 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Substrate recognition component of a (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. Ref.9 Ref.11 |
| Pathway | |
| Subunit structure | 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. Ref.8 Ref.9 Ref.10 Ref.11 |
| Subcellular location | |
| Involvement in disease | Parkinson disease 15 (PARK15) [MIM:260300]: A neurodegenerative disorder characterized by parkinsonian and pyramidal signs. Clinical manifestations include tremor, bradykinesia, rigidity, postural instability, spasticity, mainly in the lower limbs, and hyperreflexia. |
| Sequence similarities | Contains 1 F-box domain. |
| Sequence caution | The sequence AAF04471.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Ubl conjugation pathway |
| Cellular component | Cytoplasm Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation Neurodegeneration Parkinsonism |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | cell death Inferred from electronic annotation. Source: UniProtKB-KW regulation of protein stabilityInferred from direct assay Ref.9. Source: UniProtKB ubiquitin-dependent protein catabolic processTraceable author statement Ref.7. Source: ProtInc |
| Cellular_component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleusInferred from electronic annotation. Source: UniProtKB-SubCell ubiquitin ligase complexTraceable author statement Ref.7. Source: ProtInc |
| Molecular_function | ubiquitin-protein ligase activity Traceable author statement Ref.7. Source: ProtInc |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| SKP1 | P63208 | 2 | EBI-1161222,EBI-307486 |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9Y3I1-1) 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. | ||||||
| Isoform 2 (identifier: Q9Y3I1-2) The sequence of this isoform differs from the canonical sequence as follows: 1-79: Missing. 80-91: DDIPAPNIPSST → MARPPGGSGPLL | ||||||
| Isoform 3 (identifier: Q9Y3I1-3) The sequence of this isoform differs from the canonical sequence as follows: 1-114: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 522 | 522 | F-box only protein 7 | PRO_0000119885 | |||||
Regions | |||||||||
| Domain | 329 – 375 | 47 | F-box | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 114 | 114 | Missing in isoform 3. | VSP_044723 | |||||
| Alternative sequence | 1 – 79 | 79 | Missing in isoform 2. | VSP_041073 | |||||
| Alternative sequence | 80 – 91 | 12 | DDIPA…IPSST → MARPPGGSGPLL in isoform 2. | VSP_041074 | |||||
| Natural variant | 115 | 1 | M → I. Ref.4 Ref.6 Ref.7 Ref.12 Corresponds to variant rs11107 [ dbSNP | Ensembl ]. | VAR_021408 | |||||
| Natural variant | 378 | 1 | R → G in PARK15. Ref.12 | VAR_047938 | |||||
| Natural variant | 481 | 1 | R → C Found in two patients with Kufor-Rakeb syndrome also carrying R-877 in ATP13A2. Ref.13 | VAR_066022 | |||||
Experimental info | |||||||||
| Sequence conflict | 79 | 1 | Q → H in AAF04471. Ref.7 | ||||||
| Sequence conflict | 84 | 1 | A → P in AAF04471. Ref.7 | ||||||
| Sequence conflict | 154 | 1 | N → S in BAG63187. Ref.4 | ||||||
| Sequence conflict | 169 | 1 | M → L in AAF04471. Ref.7 | ||||||
| Sequence conflict | 224 | 1 | M → L in AAF04471. Ref.7 | ||||||
| Sequence conflict | 241 | 1 | P → H in AAF04471. Ref.7 | ||||||
| Sequence conflict | 328 | 1 | D → N in AAF04471. Ref.7 | ||||||
| Sequence conflict | 413 | 1 | M → L in AAF04471. Ref.7 | ||||||
| Sequence conflict | 475 | 1 | F → L in AAF04471. Ref.7 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "cDNA cloning and expression analysis of new members of the mammalian F-box protein family." Ilyin G.P., Rialland M., Pigeon C., Guguen-Guillouzo C. Genomics 67:40-47(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | "Reevaluating human gene annotation: a second-generation analysis of chromosome 22." Collins J.E., Goward M.E., Cole C.G., Smink L.J., Huckle E.J., Knowles S., Bye J.M., Beare D.M., Dunham I. Genome Res. 13:27-36(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [3] | "A genome annotation-driven approach to cloning the human ORFeome." Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I. Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), VARIANT ILE-115. Tissue: Heart and Testis. |
| [5] | "The DNA sequence of human chromosome 22." Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. Wright H.Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "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] (ISOFORM 1), VARIANT ILE-115. Tissue: Pancreas. |
| [7] | "Identification of a family of human F-box proteins." Cenciarelli C., Chiaur D.S., Guardavaccaro D., Parks W., Vidal M., Pagano M. Curr. Biol. 9:1177-1179(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 42-522 (ISOFORM 1), VARIANT ILE-115. |
| [8] | "Identification of a novel cell cycle regulated gene, HURP, overexpressed in human hepatocellular carcinoma." Tsou A.-P., Yang C.-W., Huang C.-Y.F., Yu R.C.-T., Lee Y.-C.G., Chang C.-W., Chen B.-R., Chung Y.-F., Fann M.-J., Chi C.-W., Chiu J.-H., Chou C.-K. Oncogene 22:298-307(2003) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH DLGAP5, IDENTIFICATION IN SCF COMPLEX. |
| [9] | "Fbx7 functions in the SCF complex regulating Cdk1-cyclin B-phosphorylated hepatoma up-regulated protein (HURP) proteolysis by a proline-rich region." Hsu J.-M., Lee Y.-C.G., Yu C.-T.R., Huang C.-Y.F. J. Biol. Chem. 279:32592-32602(2004) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH DLGAP5; CUL1 AND SKP1, FUNCTION IN UBIQUITINATION OF DLGAP5. |
| [10] | "Transforming activity of Fbxo7 is mediated specifically through regulation of cyclin D/cdk6." Laman H., Funes J.M., Ye H., Henderson S., Galinanes-Garcia L., Hara E., Knowles P., McDonald N., Boshoff C. EMBO J. 24:3104-3116(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH CDK6, SUBCELLULAR LOCATION. |
| [11] | "The F-box protein Fbxo7 interacts with human inhibitor of apoptosis protein cIAP1 and promotes cIAP1 ubiquitination." Chang Y.F., Cheng C.M., Chang L.K., Jong Y.J., Yuo C.Y. Biochem. Biophys. Res. Commun. 342:1022-1026(2006) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH BIRC2, FUNCTION IN UBIQUITINATION OF BIRC2. |
| [12] | "Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays." Shojaee S., Sina F., Banihosseini S.S., Kazemi M.H., Kalhor R., Shahidi G.-A., Fakhrai-Rad H., Ronaghi M., Elahi E. Am. J. Hum. Genet. 82:1375-1384(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT PARK15 GLY-378, VARIANT ILE-115. |
| [13] | "Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability." Santoro L., Breedveld G.J., Manganelli F., Iodice R., Pisciotta C., Nolano M., Punzo F., Quarantelli M., Pappata S., Di Fonzo A., Oostra B.A., Bonifati V. Neurogenetics 12:33-39(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CYS-481. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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, AL035068, Z71183 Genomic DNA. Translation: CAI19587.1. AL021937, AL035068, Z71183 Genomic DNA. Translation: CAI19588.2. AL035068, AL021937, Z71183 Genomic DNA. Translation: CAI19333.1. AL035068, AL021937, Z71183 Genomic DNA. Translation: CAI19334.2. Z71183, AL021937, AL035068 Genomic DNA. Translation: CAI18782.1. Z71183, AL021937, AL035068 Genomic DNA. Translation: CAI18783.2. BC008361 mRNA. Translation: AAH08361.1. AF129537 mRNA. Translation: AAF04471.1. Different initiation. |
| IPI | IPI00294567. IPI00651672. IPI00853513. |
| RefSeq | NP_001028196.1. NM_001033024.1. NP_001244919.1. NM_001257990.1. NP_036311.3. NM_012179.3. |
| UniGene | Hs.5912. |
3D structure databases | |
| ProteinModelPortal | Q9Y3I1. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9Y3I1. 6 interactions. |
| MINT | MINT-108554. |
| STRING | 9606.ENSP00000266087. |
PTM databases | |
| PhosphoSite | Q9Y3I1. |
Polymorphism databases | |
| DMDM | 13124249. |
Proteomic databases | |
| PaxDb | Q9Y3I1. |
| PRIDE | Q9Y3I1. |
Protocols and materials databases | |
| DNASU | 25793. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000266087; ENSP00000266087; ENSG00000100225. ENST00000382058; ENSP00000371490; ENSG00000100225. ENST00000397426; ENSP00000380571; ENSG00000100225. |
| GeneID | 25793. |
| KEGG | hsa:25793. |
| UCSC | uc003amq.3. human. uc003amt.3. human. |
Organism-specific databases | |
| CTD | 25793. |
| GeneCards | GC22P032870. |
| HGNC | HGNC:13586. FBXO7. |
| HPA | CAB034296. HPA032114. |
| MIM | 260300. phenotype. 605648. gene. |
| neXtProt | NX_Q9Y3I1. |
| Orphanet | 171695. Parkinsonian-pyramidal syndrome. |
| PharmGKB | PA28047. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG78399. |
| HOGENOM | HOG000112551. |
| HOVERGEN | HBG005648. |
| KO | K10293. |
| OMA | WKELYRK. |
| OrthoDB | EOG4ZGPD5. |
| PhylomeDB | Q9Y3I1. |
Enzyme and pathway databases | |
| UniPathway | UPA00143. |
Gene expression databases | |
| ArrayExpress | Q9Y3I1. |
| Bgee | Q9Y3I1. |
| CleanEx | HS_FBXO7. |
| Genevestigator | Q9Y3I1. |
| GermOnline | ENSG00000100225. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001810. F-box_dom_cyclin-like. IPR021625. Inhibitor_PI31. [Graphical view] |
| Pfam | PF00646. F-box. 1 hit. PF11566. PI31_Prot_N. 1 hit. [Graphical view] |
| SMART | SM00256. FBOX. 1 hit. [Graphical view] |
| SUPFAM | SSF81383. F-box_dom_Skp2-like. 1 hit. |
| PROSITE | PS50181. FBOX. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | FBXO7. human. |
| GenomeRNAi | 25793. |
| NextBio | 46969. |
| SOURCE | Search... |
Entry information
| Entry name | FBX7_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9Y3I1 Secondary accession number(s): B4DNB3 Q9UKT2 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 22 Human chromosome 22: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with
