FBXO32 F-box protein 32 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FBXO32provided by HGNC
Official Full Name: F-box protein 32provided by HGNC
Primary source: HGNC:HGNC:16731
See related: Ensembl:ENSG00000156804 MIM:606604; AllianceGenome:HGNC:16731
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: Fbx32; MAFbx
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 contains an F-box domain. This protein is highly expressed during muscle atrophy, whereas mice deficient in this gene were found to be resistant to atrophy. This protein is thus a potential drug target for the treatment of muscle atrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
Expression: Broad expression in endometrium (RPKM 28.7), heart (RPKM 22.1) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.13

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (123497889..123541206, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (124628980..124672309, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (124510129..124553446, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FBXO32 Stimulates Protein Synthesis to Drive Pancreatic Cancer Progression and Metastasis.
Title: FBXO32 Stimulates Protein Synthesis to Drive Pancreatic Cancer Progression and Metastasis.
FBXO32-mediated degradation of PTEN promotes lung adenocarcinoma progression.
Title: FBXO32-mediated degradation of PTEN promotes lung adenocarcinoma progression.
DNMT1-mediated regulating on FBXO32 promotes the progression of glioma cells through the regulation of SKP1 activity.
Title: DNMT1-mediated regulating on FBXO32 promotes the progression of glioma cells through the regulation of SKP1 activity.
Downregulation of BASP1 Promotes Temozolomide Resistance in Gliomas via Epigenetic Activation of the FBXO32/NF-kappaB/MGMT Axis.
Title: Downregulation of BASP1 Promotes Temozolomide Resistance in Gliomas via Epigenetic Activation of the FBXO32/NF-κB/MGMT Axis.
The FBXO32/ATR/ATM axis acts as a molecular switch to control the sensitivity of osteosarcoma cells to irradiation through its regulation of EXO1 expression.
Title: The FBXO32/ATR/ATM axis acts as a molecular switch to control the sensitivity of osteosarcoma cells to irradiation through its regulation of EXO1 expression.
Promotive Effect of FBXO32 on the Odontoblastic Differentiation of Human Dental Pulp Stem Cells.
Title: Promotive Effect of FBXO32 on the Odontoblastic Differentiation of Human Dental Pulp Stem Cells.
A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to wholeexome sequencing.
Title: A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to whole‑exome sequencing.
Ubiquitin E3 ligase Atrogin-1 protein is regulated via the rapamycin-sensitive mTOR-S6K1 signaling pathway in C2C12 muscle cells.
Title: Ubiquitin E3 ligase Atrogin-1 protein is regulated via the rapamycin-sensitive mTOR-S6K1 signaling pathway in C2C12 muscle cells.
FBXO32 targets PHPT1 for ubiquitination to regulate the growth of EGFR mutant lung cancer.
Title: FBXO32 targets PHPT1 for ubiquitination to regulate the growth of EGFR mutant lung cancer.
E3 ubiquitin ligase Atrogin-1 mediates adaptive resistance to KIT-targeted inhibition in gastrointestinal stromal tumor.
Title: E3 ubiquitin ligase Atrogin-1 mediates adaptive resistance to KIT-targeted inhibition in gastrointestinal stromal tumor.

Submit: New GeneRIF Correction See all GeneRIFs (57)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48400 (e-PCR)
- UniSTS:80137

STS-AA027933 (e-PCR)
- UniSTS:34576

STS-H99761 (e-PCR)
- UniSTS:18750

STS-N27429 (e-PCR)
- UniSTS:44607

RH123368 (e-PCR)
- UniSTS:135744

FBXO32_(5) (e-PCR)
- UniSTS:278373

D8S1354E (e-PCR)
- UniSTS:151169

D8S1356E (e-PCR)
- UniSTS:151171

D8S1342E (e-PCR)
- UniSTS:9103

G59572 (e-PCR)
- UniSTS:136876

RH11911 (e-PCR)
- UniSTS:18379

RH93103 (e-PCR)
- UniSTS:90844

WI-14871 (e-PCR)
- UniSTS:82657

Bda38a02 (e-PCR)
- UniSTS:48359

RH12468 (e-PCR)
- UniSTS:16109

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to dexamethasone stimulus	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in response to denervation involved in regulation of muscle adaptation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of SCF ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of SCF ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
located_in Z disc	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: F-box only protein 32

Names: atrogin 1; muscle atrophy F-box protein

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.

mRNA and Protein(s)

NM_001242463.2 → NP_001229392.1 F-box only protein 32 isoform 3

See identical proteins and their annotated locations for NP_001229392.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two in-frame exons in the coding region, compared to variant 1. This encodes a shorter protein (isoform 3), compared to isoform 1.

Source sequence(s)

AC090193, AI077844, AK125888, EF143260

Consensus CDS

CCDS56553.1

UniProtKB/Swiss-Prot

Q969P5

Related

ENSP00000390790.2, ENST00000443022.2

Conserved Domains (1) summary

pfam06881
Location:164 → 209

Elongin_A; RNA polymerase II transcription factor SIII (Elongin) subunit A
NM_058229.4 → NP_478136.1 F-box only protein 32 isoform 1

See identical proteins and their annotated locations for NP_478136.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) has a longer and alternate 5' terminal sequence containing an in-frame translation start codon, as compared to variant 2. It encodes a longer isoform (1).

Source sequence(s)

AC090193, AI077844, AK056986, AK125888

Consensus CDS

CCDS6345.1

UniProtKB/Swiss-Prot

A4KYM0, Q969P5

UniProtKB/TrEMBL

Q498Y9

Related

ENSP00000428205.1, ENST00000517956.5

Conserved Domains (1) summary

pfam06881
Location:257 → 302

Elongin_A; RNA polymerase II transcription factor SIII (Elongin) subunit A
NM_148177.3 → NP_680482.1 F-box only protein 32 isoform 2

See identical proteins and their annotated locations for NP_680482.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has a shorter and alternate 5' terminal sequence lacking an in-frame translation start codon, as compared to variant 1. It uses a downstream in-frame translation start codon and encodes a shorter isoform (2).

Source sequence(s)

AC090193, AI077844, AK125888, BC024030, BC100020

UniProtKB/TrEMBL

I6L984, Q0VAQ6

Conserved Domains (1) summary

pfam06881
Location:120 → 157

Elongin_A; RNA polymerase II transcription factor SIII (Elongin) subunit A