RBCC Red Blood Cell Collection

FBX7_HUMAN

Source: hRBCD ; ID: IPI00294567
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: FBXO7 , FBX7
Protein names and data: FBX7_HUMAN , F-box only protein 7 Lenght: 522 a.a.
Mass: 58503 Da
fasta formatted sequence
Function: 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.
Pathway: Protein modification; protein ubiquitination.
Disease: ( OMIM: 260300 605648 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Nucleus.

Genetic variants

115 - 115 M -> I (in dbSNP:rs11107). VAR_021408 11107
378 - 378 R -> G (in PARK15; dbSNP:rs71799110). VAR_047938 71799110
481 - 481 R -> C (found in two patients with Kufor- Rakeb syndrome also carrying R-877 in ATP13A2). VAR_066022

Database cross-references

UniProt: Q9Y3I1
Ensembl: ENST00000266087
Ensembl: ENST00000382058
Ensembl: ENST00000397426
MIM: 260300
MIM: 605648
neXtProt: NX_Q9Y3I1
Antibodypedia: Q9Y3I1 (may not find the protein thus also not any antibody)
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