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

Gene ID: 93611, updated on 3-Apr-2024

Summary

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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
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Genomic context

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Location:
1p36.22
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (11654407..11663327)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (11198459..11207382)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (11714464..11723384)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903842 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11561504-11562071 Neighboring gene dispatched RND transporter family member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11575295-11575922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11619527-11620028 Neighboring gene Sharpr-MPRA regulatory region 3841 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:11640244-11640440 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:11660896-11661396 Neighboring gene long intergenic non-protein coding RNA 1647 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11709789-11710497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11710498-11711205 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 265 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 267 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 266 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:11718034-11719233 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 268 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 169 Neighboring gene F-box protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 271 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:11743170-11743751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:11744701-11745201 Neighboring gene F-box protein 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:11750065-11750574 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:11750575-11751082 Neighboring gene mitotic arrest deficient 2 like 2 Neighboring gene dorsal inhibitory axon guidance protein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. N-Terminal Targeting of Regulator of G Protein Signaling Protein 2 for F-Box Only Protein 44-Mediated Proteasomal Degradation. McNabb HJ, et al. Mol Pharmacol, 2020 Dec. PMID 33008920
  2. Crystallization and preliminary X-ray characterization of the Skp1-Fbg3 complex. Kumanomidou T, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2010 Jan 1. PMID 20057081, Free PMC Article
  3. The Structural Differences between a Glycoprotein Specific F-Box Protein Fbs1 and Its Homologous Protein FBG3. Kumanomidou T, et al. PLoS One, 2015. PMID 26460611, Free PMC Article
  4. A new subfamily of structurally related human F-box proteins. Ilyin GP, et al. Gene, 2002 Aug 21. PMID 12383498
  5. FBXO44 promotes DNA replication-coupled repetitive element silencing in cancer cells. Shen JZ, et al. Cell, 2021 Jan 21. PMID 33357448, Free PMC Article

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. FBXO44 promotes DNA replication-coupled repetitive element silencing in cancer cells.
    Title: FBXO44 promotes DNA replication-coupled repetitive element silencing in cancer cells.
  2. 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.
  3. 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.
  4. 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.
  5. FBXO44 mediates BRCA1 ubiquitination and degradation
    Title: The F-box protein FBXO44 mediates BRCA1 ubiquitination and degradation.
  6. 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.
Submit: New GeneRIF Correction

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC14140, DKFZp781J0852

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)

  1. 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

  2. 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

  3. 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

  4. 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

  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

  6. 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

  7. 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

  1. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    11654407..11663327
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434652.1 → XP_047290608.1  F-box only protein 44 isoform X2

    UniProtKB/Swiss-Prot
    B3KNZ2, B7Z743, Q5TGX2, Q5TGX4, Q5TGX5, Q68DJ9, Q8WWY2, Q9H4M3

  2. XM_011542435.2 → XP_011540737.1  F-box only protein 44 isoform X1

    See identical proteins and their annotated locations for XP_011540737.1

    UniProtKB/TrEMBL
    B7Z1P2
    Conserved Domains (2) summary
    pfam04300
    Location:72 → 120
    FBA; F-box associated region
    pfam12937
    Location:6 → 53
    F-box-like; F-box-like

  3. XM_005263537.2 → XP_005263594.1  F-box only protein 44 isoform X1

    See identical proteins and their annotated locations for XP_005263594.1

    UniProtKB/TrEMBL
    B7Z1P2
    Conserved Domains (2) summary
    pfam04300
    Location:72 → 120
    FBA; F-box associated region
    pfam12937
    Location:6 → 53
    F-box-like; F-box-like

  4. XM_047434637.1 → XP_047290593.1  F-box only protein 44 isoform X2

    UniProtKB/Swiss-Prot
    B3KNZ2, B7Z743, Q5TGX2, Q5TGX4, Q5TGX5, Q68DJ9, Q8WWY2, Q9H4M3

  5. XM_005263536.5 → XP_005263593.1  F-box only protein 44 isoform X1

    See identical proteins and their annotated locations for XP_005263593.1

    UniProtKB/TrEMBL
    B7Z1P2
    Conserved Domains (2) summary
    pfam04300
    Location:72 → 120
    FBA; F-box associated region
    pfam12937
    Location:6 → 53
    F-box-like; F-box-like

  6. XM_047434659.1 → XP_047290615.1  F-box only protein 44 isoform X3

  7. XM_006711045.4 → XP_006711108.1  F-box only protein 44 isoform X2

    See identical proteins and their annotated locations for XP_006711108.1

    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

  8. XM_006711043.4 → XP_006711106.1  F-box only protein 44 isoform X1

    See identical proteins and their annotated locations for XP_006711106.1

    UniProtKB/TrEMBL
    B7Z1P2
    Conserved Domains (2) summary
    pfam04300
    Location:72 → 120
    FBA; F-box associated region
    pfam12937
    Location:6 → 53
    F-box-like; F-box-like

  9. XM_017002844.3 → XP_016858333.1  F-box only protein 44 isoform X3

    Conserved Domains (2) summary
    pfam04300
    Location:72 → 124
    FBA; F-box associated region
    pfam12937
    Location:6 → 51
    F-box-like

  10. XM_047434647.1 → XP_047290603.1  F-box only protein 44 isoform X2

    UniProtKB/Swiss-Prot
    B3KNZ2, B7Z743, Q5TGX2, Q5TGX4, Q5TGX5, Q68DJ9, Q8WWY2, Q9H4M3

  11. XM_017002843.2 → XP_016858332.1  F-box only protein 44 isoform X2

    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

  12. XM_017002842.3 → XP_016858331.1  F-box only protein 44 isoform X1

    UniProtKB/TrEMBL
    B7Z1P2
    Conserved Domains (2) summary
    pfam04300
    Location:72 → 120
    FBA; F-box associated region
    pfam12937
    Location:6 → 53
    F-box-like; F-box-like

  13. XM_047434635.1 → XP_047290591.1  F-box only protein 44 isoform X2

    UniProtKB/Swiss-Prot
    B3KNZ2, B7Z743, Q5TGX2, Q5TGX4, Q5TGX5, Q68DJ9, Q8WWY2, Q9H4M3

  14. XM_047434631.1 → XP_047290587.1  F-box only protein 44 isoform X1

    UniProtKB/TrEMBL
    B7Z1P2

  15. XM_047434660.1 → XP_047290616.1  F-box only protein 44 isoform X3

RNA

  1. XR_007064919.1 RNA Sequence

  2. XR_007064917.1 RNA Sequence

  3. XR_007064914.1 RNA Sequence

  4. XR_007064913.1 RNA Sequence

  5. XR_007064918.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    11198459..11207382
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339669.1 → XP_054195644.1  F-box only protein 44 isoform X2

    UniProtKB/Swiss-Prot
    B3KNZ2, B7Z743, Q5TGX2, Q5TGX4, Q5TGX5, Q68DJ9, Q8WWY2, Q9H4M3

  2. XM_054339662.1 → XP_054195637.1  F-box only protein 44 isoform X1

    UniProtKB/TrEMBL
    B7Z1P2

  3. XM_054339659.1 → XP_054195634.1  F-box only protein 44 isoform X1

    UniProtKB/TrEMBL
    B7Z1P2

  4. XM_054339666.1 → XP_054195641.1  F-box only protein 44 isoform X2

    UniProtKB/Swiss-Prot
    B3KNZ2, B7Z743, Q5TGX2, Q5TGX4, Q5TGX5, Q68DJ9, Q8WWY2, Q9H4M3

  5. XM_054339658.1 → XP_054195633.1  F-box only protein 44 isoform X1

    UniProtKB/TrEMBL
    B7Z1P2

  6. XM_054339671.1 → XP_054195646.1  F-box only protein 44 isoform X3

  7. XM_054339668.1 → XP_054195643.1  F-box only protein 44 isoform X2

    UniProtKB/Swiss-Prot
    B3KNZ2, B7Z743, Q5TGX2, Q5TGX4, Q5TGX5, Q68DJ9, Q8WWY2, Q9H4M3

  8. XM_054339661.1 → XP_054195636.1  F-box only protein 44 isoform X1

    UniProtKB/TrEMBL
    B7Z1P2

  9. XM_054339670.1 → XP_054195645.1  F-box only protein 44 isoform X3

  10. XM_054339667.1 → XP_054195642.1  F-box only protein 44 isoform X2

    UniProtKB/Swiss-Prot
    B3KNZ2, B7Z743, Q5TGX2, Q5TGX4, Q5TGX5, Q68DJ9, Q8WWY2, Q9H4M3

  11. XM_054339665.1 → XP_054195640.1  F-box only protein 44 isoform X2

    UniProtKB/Swiss-Prot
    B3KNZ2, B7Z743, Q5TGX2, Q5TGX4, Q5TGX5, Q68DJ9, Q8WWY2, Q9H4M3

  12. XM_054339660.1 → XP_054195635.1  F-box only protein 44 isoform X1

    UniProtKB/TrEMBL
    B7Z1P2

  13. XM_054339672.1 → XP_054195647.1  F-box only protein 44 isoform X3

  14. XM_054339664.1 → XP_054195639.1  F-box only protein 44 isoform X2

    UniProtKB/Swiss-Prot
    B3KNZ2, B7Z743, Q5TGX2, Q5TGX4, Q5TGX5, Q68DJ9, Q8WWY2, Q9H4M3

  15. XM_054339663.1 → XP_054195638.1  F-box only protein 44 isoform X1

    UniProtKB/TrEMBL
    B7Z1P2

RNA

  1. XR_008486213.1 RNA Sequence

  2. XR_008486211.1 RNA Sequence

  3. XR_008486210.1 RNA Sequence

  4. XR_008486209.1 RNA Sequence

  5. XR_008486212.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H4M3.3 GenPept UniProtKB/Swiss-Prot:Q9H4M3

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