Format

Send to:

Choose Destination

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

Gene ID: 25793, updated on 8-May-2016
Official Symbol
FBXO7provided by HGNC
Official Full Name
F-box protein 7provided by HGNC
Primary source
HGNC:HGNC:13586
See related
Ensembl:ENSG00000100225 HPRD:07292; MIM:605648; Vega:OTTHUMG00000030674
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]
Orthologs
Location:
22q12.3
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 LOC105373004 Neighboring gene synapsin III Neighboring gene uncharacterized LOC105373003

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

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 kinase binding IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-protein transferase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
mitophagy 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
 
protein targeting to mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
protein ubiquitination 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 TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol 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 complex IDA
Inferred from Direct Assay
more info
 
ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 

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, OTTHUMP00000195957, ENST00000452138, OTTHUMT00000129005
    Conserved Domains (2) summary
    pfam11566
    Location:103246
    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, OTTHUMP00000028823, ENST00000397426, OTTHUMT00000075562
    Conserved Domains (2) summary
    pfam11566
    Location:68211
    PI31_Prot_N; PI31 proteasome regulator N-terminal
    pfam12937
    Location:221264
    F-box-like; F-box-like
  3. NM_012179.3NP_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, BU584368, BX362053
    Consensus CDS
    CCDS13907.1
    UniProtKB/Swiss-Prot
    Q9Y3I1
    Related
    ENSP00000266087, OTTHUMP00000064010, ENST00000266087, OTTHUMT00000129001
    Conserved Domains (2) summary
    pfam11566
    Location:182325
    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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011530106.1XP_011528408.1  

    Conserved Domains (2) summary
    pfam11566
    Location:26169
    PI31_Prot_N; PI31 proteasome regulator N-terminal
    pfam12937
    Location:179222
    F-box-like; F-box-like

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 Alternate CHM1_1.1

    Range
    32830063..32854178
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)