F-box only protein 7 (FBXO7)

The protein contains 522 amino acids for an estimated molecular weight of 58503 Da.

 

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. (updated: Dec. 20, 2017)

Protein identification was indicated in the following studies:

  1. Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
  2. Lange and co-workers. (2014) Annotating N termini for the human proteome project: N termini and Nα-acetylation status differentiate stable cleaved protein species from degradation remnants in the human erythrocyte proteome. J Proteome Res. 13(4), 2028-2044.
  3. Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
  4. Wilson and co-workers. (2016) Comparison of the Proteome of Adult and Cord Erythroid Cells, and Changes in the Proteome Following Reticulocyte Maturation. Mol Cell Proteomics. 15(6), 1938-1946.
  5. Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
  6. D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
  7. Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.

Methods

The following articles were analysed to gather the proteome content of erythrocytes.

The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.

PublicationIdentification 1Uniprot mapping 2Not mapped /
Obsolete
TrEMBLSwiss-Prot
Goodman (2013)2289 (gene list)227853205992269
Lange (2014)123412347281224
Hegedus (2015)2638262202352387
Wilson (2016)165815281702911068
d'Alessandro (2017)18261817201815
Bryk (2017)20902060101081942
Chu (2018)18531804553621387

1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry

The compilation of older studies can be retrieved from the Red Blood Cell Collection database.

The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.

No sequence conservation computed yet.

Interpro domains
Total structural coverage: 31%
Model score: 48

(right-click above to access to more options from the contextual menu)

VariantDescription
dbSNP:rs11107
PARK15
Found in two patients with Kufor-Rakeb syndrome also carrying R-877 in

The reference OMIM entry for this protein is 260300

Parkinson disease 15, autosomal recessive early-onset; park15
Parkinsonian-pyramidal syndrome; pkps
Pallidopyramidal syndrome
Pallido-pyramidal syndrome

A number sign (#) is used with this entry because Parkinson disease-15 (PARK15), also known as the parkinsonian-pyramidal syndrome, is caused by mutation in the FBXO7 gene (605648). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600).

CLINICAL FEATURES

Davison (1954) described 5 affected cases in 3 families. In 1 family, a brother and sister with first-cousin parents were affected, and in another family, a brother and sister with uncle-niece parents were affected. The illness began in the second or early third decade with the picture of paralysis agitans and pyramidal tract signs. Postmortem examination showed pallor of the pallidal segments, thinning of the ansa lenticularis, slight shrinkage and cellular change in the substantia nigra, and early demyelination of the pyramids and crossed pyramidal tracts. One of Davison's cases had been reported by Ramsey Hunt (1917). Tremor and rigidity of 'paralysis agitans' type, parkinsonism, began at age 13. Clinically, Wilson disease was considered likely for a time. The patient survived until age 65 years. Lange and Poppe (1963) may have described the same disorder as familial progressive pallidum atrophy in 6 sibs. Lange et al. (1970) gave information on the autopsy findings. Horowitz and Greenberg (1975) reported a brother and sister who developed parkinsonism in the first decade of life. They both later developed symptoms of cortical spinal tract disease, similar to the disorder described by Davison (1954). Clinical features included tremor, rigidity, akinesia, scissor gait, and hyperreflexia. The disorder was progressive until the institution of levodopa treatment at the ages of 18 and 20 years, respectively. The extremely favorable response of the extrapyramidal signs and the lack of equal response of the pyramidal tract signs demonstrated the specificity of the pharmacologic agent. Livingstone (1983) described a family with affected brother and sister. Nisipeanu et al. (1994) reported 2 unrelated consanguineous families in which 2 sibs each had levodopa-responsive parkinsonian-pyramidal syndrome. In the first family, of Libyan Jewish descent, a brother and sister both developed spasticity and hyperreflexia of the lower limbs at age 12 years. The disorder was progressive and resulted in impaired gait and later development of extrapyramidal signs, including tremor and bradykinesia. Two brothers in the second family, born of consanguineous Iraqi Jewish parents, developed lower limb spasticity at ages 21 and 23 years, respectively. Extrapyramidal signs became apparent about 3 years later. All 4 patients showed good response to levodopa treatment. Nisipeanu et al. (1994) noted that since no autopsy information was available in their patients to identify precise anatomic involvement, the term 'parkinsonian-pyramidal syndrome' would be more appropriate than 'pallido-pyramidal syndrome.' Srivastava et al. (2005) reported a 22-year-old Indian woman, born of consanguineous parents, with a history of progressive bradykinesia and stiffness from age 12 years. From age 20, she developed blepharospasm with rapid worsening of the bradykinesia, stiffness, and postural instability confining her to bed. She also reported urinary frequency and urgency as well as ankle clonus. Physical examination showed mask-like face, monotonous speech, slow saccades, hyperreflexia, extensor plantar responses, and mild intention tremor. Cognition was normal. ... More on the omim web site

Subscribe to this protein entry history

Feb. 10, 2018: Protein entry updated
Automatic update: Entry updated from uniprot information.

Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated

Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated

Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated

March 16, 2016: Protein entry updated
Automatic update: OMIM entry 260300 was added.

Feb. 24, 2016: Protein entry updated
Automatic update: model status changed