FBXO31 F-box protein 31 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FBXO31provided by HGNC
Official Full Name: F-box protein 31provided by HGNC
Primary source: HGNC:HGNC:16510
See related: Ensembl:ENSG00000103264 MIM:609102; AllianceGenome:HGNC:16510
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: FBX14; Fbx31; MRT45; FBXO14; pp2386
Summary: This gene is a member of the F-box family. Members are classified into three classes according to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing-rich repeats, and FBXO for other domains. This protein, classified into the last category because of the lack of a recognizable substrate binding domain, has been proposed to be a component of the SCF ubiquitination complex. It is thought to bind and recruit substrate for ubiquitination and degradation. This protein may have a role in regulating the cell cycle as well as dendrite growth and neuronal migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Expression: Ubiquitous expression in fat (RPKM 13.6), ovary (RPKM 7.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q24.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (87326987..87392121, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (93397874..93463013, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (87360593..87425727, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Aberrantly High FBXO31 Impairs Oocyte Quality in Premature Ovarian Insufficiency.
Title: Aberrantly High FBXO31 Impairs Oocyte Quality in Premature Ovarian Insufficiency.
FBXO31 is upregulated by METTL3 to promote pancreatic cancer progression via regulating SIRT2 ubiquitination and degradation.
Title: FBXO31 is upregulated by METTL3 to promote pancreatic cancer progression via regulating SIRT2 ubiquitination and degradation.
LincRNA ZNF529-AS1 inhibits hepatocellular carcinoma via FBXO31 and predicts the prognosis of hepatocellular carcinoma patients.
Title: LincRNA ZNF529-AS1 inhibits hepatocellular carcinoma via FBXO31 and predicts the prognosis of hepatocellular carcinoma patients.
FBXO31 sensitizes cancer stem cells-like cells to cisplatin by promoting ferroptosis and facilitating proteasomal degradation of GPX4 in cholangiocarcinoma.
Title: FBXO31 sensitizes cancer stem cells-like cells to cisplatin by promoting ferroptosis and facilitating proteasomal degradation of GPX4 in cholangiocarcinoma.
FBXO31 suppresses lipogenesis and tumor progression in glioma by promoting ubiquitination and degradation of CD147.
Title: FBXO31 suppresses lipogenesis and tumor progression in glioma by promoting ubiquitination and degradation of CD147.
Feedback-regulated transcriptional repression of FBXO31 by c-Myc triggers ovarian cancer tumorigenesis.
Title: Feedback-regulated transcriptional repression of FBXO31 by c-Myc triggers ovarian cancer tumorigenesis.
Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
Title: Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
Loss of FBXO31-mediated degradation of DUSP6 dysregulates ERK and PI3K-AKT signaling and promotes prostate tumorigenesis.
Title: Loss of FBXO31-mediated degradation of DUSP6 dysregulates ERK and PI3K-AKT signaling and promotes prostate tumorigenesis.
Effects and mechanisms of FBXO31 on Taxol chemoresistance in esophageal squamous cell carcinoma.
Title: Effects and mechanisms of FBXO31 on Taxol chemoresistance in esophageal squamous cell carcinoma.
Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome.
Title: Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (30)

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

Associated conditions

Description	Tests
Intellectual disability, autosomal recessive 45 MedGen: C4014864 OMIM: 615979 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A mega-analysis of genome-wide association studies for major depressive disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-61138 (e-PCR)
- UniSTS:83474

SHGC-60821 (e-PCR)
- UniSTS:57147

A001Y26 (e-PCR)
- UniSTS:76194

SHGC-60755 (e-PCR)
- UniSTS:44218

1802 (e-PCR)
- UniSTS:15061

Clone Names

MGC9527, FLJ22477, MGC15419, DKFZp434B027, DKFZp434J1815

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in anaphase-promoting complex-dependent catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic G1 DNA damage checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation 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 cytosol	TAS Traceable Author Statement more info
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: F-box only protein 31

Names: SCF ubiquitin ligase specificity factor; putative breast cancer tumor-suppressor

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

NG_047196.1 RefSeqGene

Range

13332..70121

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001282683.2 → NP_001269612.1 F-box only protein 31 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents use of an alternate promoter and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC010531, AL117444, AL576585, BC012748, BE465371, BG718342, BI914636, BM151642, BX106211, BX329100, DA493744, DB444853

Consensus CDS

CCDS73922.1

UniProtKB/TrEMBL

A0A0C4DGU8

Related

ENSP00000479703.1, ENST00000618298.6

Conserved Domains (2) summary

PRK07764
Location:203 → 273

PRK07764; DNA polymerase III subunits gamma and tau; Validated

pfam12014
Location:113 → 171

DUF3506; Domain of unknown function (DUF3506)
NM_024735.5 → NP_079011.3 F-box only protein 31 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AF318348, AL576585, BC012748, BE465371, BI596608, BI914636, BM151642, BX106211, BX329100, DA493744

Consensus CDS

CCDS32501.1

UniProtKB/Swiss-Prot

Q5K680, Q5XUX0, Q8WYV1, Q96D73, Q9UFV4

UniProtKB/TrEMBL

A0A1B0GV77

Related

ENSP00000310841.4, ENST00000311635.12

Conserved Domains (2) summary

pfam12014
Location:285 → 343

DUF3506; Domain of unknown function (DUF3506)

pfam12937
Location:75 → 113

F-box-like; F-box-like