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

Gene ID: 25793, updated on 10-Dec-2024

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; AllianceGenome:HGNC:13586
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
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Genomic context

See FBXO7 in Genome Data Viewer
Location:
22q12.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (32474811..32498829)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (32938705..32962724)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (32870798..32894816)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr22:32790650-32790847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18876 Neighboring gene RNA 2',3'-cyclic phosphate and 5'-OH ligase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18877 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:32870558-32871058 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:32871059-32871559 Neighboring gene BPI fold containing family C Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63238 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63240 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63244 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:32897520-32898206 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:32898207-32898893 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32924873-32925374 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:32925375-32925874 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:32927678-32928315 Neighboring gene uncharacterized LOC124905103 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:32928316-32928952 Neighboring gene synapsin III Neighboring gene SYN3 antisense RNA 1

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

EBI GWAS Catalog

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

Interactions

General gene information

Clone Names

  • DKFZp686B08113

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in autophagy of mitochondrion PubMed 
involved_in lymphocyte differentiation  
involved_in negative regulation of G1/S transition of mitotic cell cycle  
involved_in negative regulation of lymphocyte differentiation  
acts_upstream_of negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway PubMed 
involved_in negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway PubMed 
involved_in positive regulation of autophagy of mitochondrion  
involved_in positive regulation of mitophagy PubMed 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process PubMed 
involved_in protein K48-linked ubiquitination PubMed 
involved_in protein targeting to mitochondrion PubMed 
involved_in protein ubiquitination PubMed 
involved_in protein ubiquitination PubMed 
involved_in regulation of locomotion PubMed 
involved_in regulation of neuron projection development PubMed 
involved_in regulation of protein stability PubMed 
involved_in ubiquitin-dependent protein catabolic process PubMed 
Component Evidence Code Pubs
located_in Lewy body core PubMed 
located_in Lewy body corona PubMed 
located_in Lewy neurite PubMed 
part_of SCF ubiquitin ligase complex PubMed 
part_of SCF ubiquitin ligase complex PubMed 
located_in classical Lewy body PubMed 
located_in cytoplasm PubMed 
located_in cytosol PubMed 
located_in cytosol  
located_in glial cytoplasmic inclusion PubMed 
located_in mitochondrion PubMed 
located_in nucleoplasm  
is_active_in nucleus PubMed 
located_in nucleus PubMed 
part_of protein-containing complex  
part_of ubiquitin ligase complex PubMed 

NCBI Reference Sequences (RefSeq)

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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_016001.2 RefSeqGene

    Range
    5092..29110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001033024.2NP_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/TrEMBL
    A8K7F7
    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_001257990.2NP_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
    B4DNB3, B4DWX5, Q5TGC4, Q5TI86, Q96HM6, Q9UF21, Q9UKT2, Q9Y3I1
    UniProtKB/TrEMBL
    A8K7F7
    Related
    ENSP00000266087.7, ENST00000266087.12
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    32474811..32498829
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    32938705..32962724
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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