FBXO9 F-box protein 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FBXO9provided by HGNC
Official Full Name: F-box protein 9provided by HGNC
Primary source: HGNC:HGNC:13588
See related: Ensembl:ENSG00000112146 MIM:609091; AllianceGenome:HGNC:13588
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: FBX9; VCIA1; NY-REN-57; dJ341E18.2
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. Alternative splicing of this gene generates at least 3 transcript variants diverging at the 5' terminus. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in adrenal (RPKM 15.5), bone marrow (RPKM 13.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p12.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (53064998..53100873)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (52904603..52940463)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (52929796..52965671)

Chromosome 6 - NC_000006.12 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?

F-box only protein 9 and its role in cancer.
Title: F-box only protein 9 and its role in cancer.
ICK and FBX9 are divergently transcribed from a bidirectional promoter that is GC-rich and contains a CpG island.
Title: The promoter for intestinal cell kinase is head-to-head with F-Box 9 and contains functional sites for TCF7L2 and FOXA factors.

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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 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

GDB:434012 (e-PCR)
- UniSTS:157204

G20333 (e-PCR)
- UniSTS:56099

A005M20 (e-PCR)
- UniSTS:56100

RH75014 (e-PCR)
- UniSTS:85803

D8S2279 (e-PCR)
- UniSTS:473907

D6S1198E (e-PCR)
- UniSTS:151095

FBXO9_1888 (e-PCR)
- UniSTS:280667

D6S1204E (e-PCR)
- UniSTS:57701

RH12607 (e-PCR)
- UniSTS:77947

D6S1177E (e-PCR)
- UniSTS:8069

G60256 (e-PCR)
- UniSTS:137362

STS-R73399 (e-PCR)
- UniSTS:42392

RH25222 (e-PCR)
- UniSTS:91289

WI-14284 (e-PCR)
- UniSTS:21463

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like ligase-substrate adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-protein transferase activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
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 fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K48-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed

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
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	TAS Traceable Author Statement more info
part_of ubiquitin ligase complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: F-box only protein 9

Names: F-box protein Fbx9; cross-immune reaction antigen 1; renal carcinoma antigen NY-REN-57

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_012347.4 → NP_036479.1 F-box only protein 9 isoform 1

See identical proteins and their annotated locations for NP_036479.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) is shortest transcript yet it encodes the longest protein (isoform 1).

Source sequence(s)

AF176704, AL031178, BC000650

Consensus CDS

CCDS55023.1

UniProtKB/Swiss-Prot

A6NFW3, B3KMM6, O75986, Q59EH8, Q6PKH7, Q9NT57, Q9UK97, Q9Y593

Related

ENSP00000244426.6, ENST00000244426.10

Conserved Domains (2) summary

pfam12937
Location:188 → 239

F-box-like; F-box-like

cl00299
Location:92 → 123

MIT; MIT: domain contained within Microtubule Interacting and Trafficking molecules. The MIT domain is found in sorting nexins, the nuclear thiol protease PalBH, the AAA protein spastin and archaebacterial proteins with similar domain architecture, vacuolar ...
NM_033480.3 → NP_258441.1 F-box only protein 9 isoform 2

See identical proteins and their annotated locations for NP_258441.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains a different segment for the 5' UTR and 5' coding region, compared to variant 1. It uses a different translation start codon and the encoded protein (isoform 2) has a shorter and distinct N-terminus when it is compared to isoform 1.

Source sequence(s)

AL031178, AL137520

Consensus CDS

CCDS55022.1

UniProtKB/Swiss-Prot

Q9UK97

Related

ENSP00000326968.7, ENST00000323557.12

Conserved Domains (2) summary

pfam12937
Location:178 → 229

F-box-like; F-box-like

cl00299
Location:82 → 113

MIT; MIT: domain contained within Microtubule Interacting and Trafficking molecules. The MIT domain is found in sorting nexins, the nuclear thiol protease PalBH, the AAA protein spastin and archaebacterial proteins with similar domain architecture, vacuolar ...
NM_033481.3 → NP_258442.2 F-box only protein 9 isoform 3

See identical proteins and their annotated locations for NP_258442.2

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains a different segment for the 5' UTR and lacks part of the 5' coding region, compared to variant 1. It uses a downstream translation start codon, with the resulting protein (isoform 3) having a shorter N-terminus when it is compared to isoform 1.

Source sequence(s)

AL031178, BC000650

Consensus CDS

CCDS55024.1

Related

ENSP00000359977.3, ENST00000370939.7

Conserved Domains (2) summary

pfam12937
Location:144 → 190

F-box-like; F-box-like

cl00299
Location:48 → 79

MIT; MIT: domain contained within Microtubule Interacting and Trafficking molecules. The MIT domain is found in sorting nexins, the nuclear thiol protease PalBH, the AAA protein spastin and archaebacterial proteins with similar domain architecture, vacuolar ...