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FBXO7 F-box protein 7 [ Homo sapiens (human) ]

Gene ID: 25793, updated on 9-Dec-2018

Summary

Official Symbol
FBXO7provided by HGNC
Official Full Name
F-box protein 7provided by HGNC
Primary source
HGNC:HGNC:13586
See related
Ensembl:ENSG00000100225 MIM:605648
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FBX; FBX7; PKPS; FBX07; PARK15
Summary
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in bone marrow (RPKM 94.0), thyroid (RPKM 68.7) and 25 other tissues See more
Orthologs

Genomic context

See FBXO7 in Genome Data Viewer
Location:
22q12.3
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (32474682..32498831)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (32870707..32894818)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene RNA 2',3'-cyclic phosphate and 5'-OH ligase Neighboring gene BPI fold containing family C Neighboring gene uncharacterized LL22NC03-104C7.1 Neighboring gene synapsin III Neighboring gene uncharacterized LOC105373003

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Parkinson disease 15
MedGen: C1850100 OMIM: 260300 GeneReviews: Parkinson Disease Overview
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
NHGRI GWA Catalog
Seventy-five genetic loci influencing the human red blood cell.
NHGRI GWA Catalog

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686B08113

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin binding IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-protein transferase activity EXP
Inferred from Experiment
more info
PubMed 
ubiquitin-protein transferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
autophagy of mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of G1/S transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cyclin-dependent protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of lymphocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of oxidative stress-induced neuron death IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of oxidative stress-induced neuron death IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of autophagy of mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of autophagy of mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein polyubiquitination TAS
Traceable Author Statement
more info
 
protein targeting to mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of locomotion IDA
Inferred from Direct Assay
more info
PubMed 
regulation of neuron projection development IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein stability IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Lewy body core IDA
Inferred from Direct Assay
more info
PubMed 
Lewy body corona IDA
Inferred from Direct Assay
more info
PubMed 
Lewy neurite IDA
Inferred from Direct Assay
more info
PubMed 
SCF ubiquitin ligase complex TAS
Traceable Author Statement
more info
PubMed 
classical Lewy body IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
glial cytoplasmic inclusion IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
 
ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016001.1 RefSeqGene

    Range
    5001..29112
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001033024.1NP_001028196.1  F-box only protein 7 isoform 2

    See identical proteins and their annotated locations for NP_001028196.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a different 5' UTR and 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2) with a distinct N- terminus, compared to isoform 1.
    Source sequence(s)
    AL050254, BI821903, BQ326686, BX409547
    Consensus CDS
    CCDS46695.1
    UniProtKB/Swiss-Prot
    Q9Y3I1
    Related
    ENSP00000388547.2, ENST00000452138.3
    Conserved Domains (3) summary
    pfam06881
    Location:292326
    Elongin_A; RNA polymerase II transcription factor SIII (Elongin) subunit A
    pfam11566
    Location:110242
    PI31_Prot_N; PI31 proteasome regulator N-terminal
    pfam12937
    Location:256299
    F-box-like; F-box-like
  2. NM_001257990.1NP_001244919.1  F-box only protein 7 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate exon in place of the first exon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AK301716, AL021937, AL050254, BI821903
    Consensus CDS
    CCDS58806.1
    UniProtKB/Swiss-Prot
    Q9Y3I1
    Related
    ENSP00000380571.1, ENST00000397426.5
    Conserved Domains (4) summary
    pfam06881
    Location:257291
    Elongin_A; RNA polymerase II transcription factor SIII (Elongin) subunit A
    pfam11566
    Location:75207
    PI31_Prot_N; PI31 proteasome regulator N-terminal
    pfam12937
    Location:221262
    F-box-like; F-box-like
    cl26464
    Location:317406
    Atrophin-1; Atrophin-1 family
  3. NM_012179.4NP_036311.3  F-box only protein 7 isoform 1

    See identical proteins and their annotated locations for NP_036311.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
    Source sequence(s)
    AL050254, BX362053
    Consensus CDS
    CCDS13907.1
    UniProtKB/Swiss-Prot
    Q9Y3I1
    Related
    ENSP00000266087.7, ENST00000266087.11
    Conserved Domains (3) summary
    pfam06881
    Location:371405
    Elongin_A; RNA polymerase II transcription factor SIII (Elongin) subunit A
    pfam11566
    Location:189321
    PI31_Prot_N; PI31 proteasome regulator N-terminal
    pfam12937
    Location:335378
    F-box-like; F-box-like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    32474682..32498831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452207.1XP_024307975.1  F-box only protein 7 isoform X1

    Conserved Domains (4) summary
    pfam06881
    Location:257291
    Elongin_A; RNA polymerase II transcription factor SIII (Elongin) subunit A
    pfam11566
    Location:75207
    PI31_Prot_N; PI31 proteasome regulator N-terminal
    pfam12937
    Location:221262
    F-box-like; F-box-like
    cl26464
    Location:317406
    Atrophin-1; Atrophin-1 family
  2. XM_011530106.1XP_011528408.1  F-box only protein 7 isoform X2

    Conserved Domains (3) summary
    pfam06881
    Location:215249
    Elongin_A; RNA polymerase II transcription factor SIII (Elongin) subunit A
    pfam11566
    Location:33165
    PI31_Prot_N; PI31 proteasome regulator N-terminal
    pfam12937
    Location:179222
    F-box-like; F-box-like
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