FBXO44 F-box protein 44 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FBXO44provided by HGNC
Official Full Name: F-box protein 44provided by HGNC
Primary source: HGNC:HGNC:24847
See related: Ensembl:ENSG00000132879 MIM:609111; AllianceGenome:HGNC:24847
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: FBG3; FBX30; FBX6A; Fbx44; Fbxo6a
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. It is also a member of the NFB42 (neural F Box 42 kDa) family, similar to F-box only protein 2 and F-box only protein 6. Several alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
Expression: Ubiquitous expression in brain (RPKM 16.4), adrenal (RPKM 7.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.22

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (11654407..11663327)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (11198459..11207382)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (11714464..11723384)

Chromosome 1 - NC_000001.11 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?

FBXO44 promotes DNA replication-coupled repetitive element silencing in cancer cells.
Title: FBXO44 promotes DNA replication-coupled repetitive element silencing in cancer cells.
N-Terminal Targeting of Regulator of G Protein Signaling Protein 2 for F-Box Only Protein 44-Mediated Proteasomal Degradation.
Title: N-Terminal Targeting of Regulator of G Protein Signaling Protein 2 for F-Box Only Protein 44-Mediated Proteasomal Degradation.
Although the overall structure of FBG3 is similar to that of Fbs1, the residues that form the Fbs1 carbohydrate-binding pocket failed to be superposed with the corresponding residues of FBG3.
Title: The Structural Differences between a Glycoprotein Specific F-Box Protein Fbs1 and Its Homologous Protein FBG3.
FBXO44-mediated degradation of RGS2 protein uniquely depends on a Cul4B/DDB1 complex.
Title: FBXO44-Mediated Degradation of RGS2 Protein Uniquely Depends on a Cullin 4B/DDB1 Complex.
FBXO44 mediates BRCA1 ubiquitination and degradation
Title: The F-box protein FBXO44 mediates BRCA1 ubiquitination and degradation.
Skp1 and Fbg3 were co-expressed in E. coli. The plate-shaped crystals belonged to space group P2(1)2(1)2(1), with unit-cell parameters a = 34.1, b = 76.6, c = 193.9 A and one molecule per asymmetric unit.
Title: Crystallization and preliminary X-ray characterization of the Skp1-Fbg3 complex.

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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

A004M25 (e-PCR)
- UniSTS:14623

IB3322 (e-PCR)
- UniSTS:10565

WI-15845 (e-PCR)
- UniSTS:41035

FBXO44__4769 (e-PCR)
- UniSTS:463257

IB1204 (e-PCR)
- UniSTS:61113

RH104184 (e-PCR)
- UniSTS:98509

D1S1264 (e-PCR)
- UniSTS:149461

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycoprotein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within proteasomal protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within proteasomal protein catabolic process	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 cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: F-box only protein 44

Names: F-box gene 3; F-box protein FBX30; F-box/G-domain protein 3

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_001014765.2 → NP_001014765.1 F-box only protein 44 isoform 1

See identical proteins and their annotated locations for NP_001014765.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 4, and 6 all encode the same isoform (1).

Source sequence(s)

AL031731

Consensus CDS

CCDS132.1

UniProtKB/Swiss-Prot

B3KNZ2, B7Z743, Q5TGX2, Q5TGX4, Q5TGX5, Q68DJ9, Q8WWY2, Q9H4M3

UniProtKB/TrEMBL

B7ZAN2

Related

ENSP00000365961.1, ENST00000376770.5

Conserved Domains (2) summary

pfam04300
Location:72 → 250

FBA; F-box associated region

pfam12937
Location:6 → 51

F-box-like
NM_001304790.2 → NP_001291719.1 F-box only protein 44 isoform 2

See identical proteins and their annotated locations for NP_001291719.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate splice junction at the 3' end of an internal exon and lacks an alternate internal exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1. Variants 2, 3, and 5 all encode the same isoform (2).

Source sequence(s)

AL031731

Consensus CDS

CCDS131.1

Related

ENSP00000365951.1, ENST00000376760.5

Conserved Domains (2) summary

pfam04300
Location:72 → 124

FBA; F-box associated region

pfam12937
Location:6 → 51

F-box-like
NM_001304791.2 → NP_001291720.1 F-box only protein 44 isoform 1

See identical proteins and their annotated locations for NP_001291720.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR compared to isoform 1. Variants 1, 4, and 6 all encode the same isoform (1).

Source sequence(s)

AK055344, AL031731, BM546141

Consensus CDS

CCDS132.1

UniProtKB/Swiss-Prot

B3KNZ2, B7Z743, Q5TGX2, Q5TGX4, Q5TGX5, Q68DJ9, Q8WWY2, Q9H4M3

UniProtKB/TrEMBL

B7ZAN2

Conserved Domains (2) summary

pfam04300
Location:72 → 250

FBA; F-box associated region

pfam12937
Location:6 → 51

F-box-like
NM_001330355.2 → NP_001317284.1 F-box only protein 44 isoform 3

Status: REVIEWED

Source sequence(s)

AL031731

Consensus CDS

CCDS81261.1

UniProtKB/TrEMBL

B7Z1P2

Related

ENSP00000365959.1, ENST00000376768.5
NM_033182.7 → NP_149438.2 F-box only protein 44 isoform 1

See identical proteins and their annotated locations for NP_149438.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1, 4, and 6 all encode the same isoform (1).

Source sequence(s)

AL031731

Consensus CDS

CCDS132.1

UniProtKB/Swiss-Prot

B3KNZ2, B7Z743, Q5TGX2, Q5TGX4, Q5TGX5, Q68DJ9, Q8WWY2, Q9H4M3

UniProtKB/TrEMBL

B7ZAN2

Related

ENSP00000251547.5, ENST00000251547.10

Conserved Domains (2) summary

pfam04300
Location:72 → 250

FBA; F-box associated region

pfam12937
Location:6 → 51

F-box-like
NM_183412.3 → NP_904319.1 F-box only protein 44 isoform 2

See identical proteins and their annotated locations for NP_904319.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, uses an alternate splice junction at the 3' end of an internal exon, and lacks an alternate internal exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1. Variants 2, 3, and 5 all encode the same isoform (2).

Source sequence(s)

AK055344, AL031731

Consensus CDS

CCDS131.1

Related

ENSP00000251546.4, ENST00000251546.8

Conserved Domains (2) summary

pfam04300
Location:72 → 124

FBA; F-box associated region

pfam12937
Location:6 → 51

F-box-like
NM_183413.3 → NP_904320.1 F-box only protein 44 isoform 2

See identical proteins and their annotated locations for NP_904320.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice junction at the 3' end of an internal exon and lacks an alternate internal exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1. Variants 2, 3, and 5 all encode the same isoform (2).

Source sequence(s)

AL031731

Consensus CDS

CCDS131.1

Related

ENSP00000365953.4, ENST00000376762.8

Conserved Domains (2) summary

pfam04300
Location:72 → 124

FBA; F-box associated region

pfam12937
Location:6 → 51

F-box-like

RNA

NR_130909.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (7) uses an alternate splice junction at the 5' end of a 5' exon and at the 3' end of an internal exon, and lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.

Source sequence(s)

AL031731