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Aliases for FBXO44 Gene

Aliases for FBXO44 Gene

  • F-Box Protein 44 2 3 5
  • F-Box/G-Domain Protein 3 3 4
  • F-Box Protein FBX30 3 4
  • Fbxo6a 3 4
  • Fbx30 3 4
  • Fbx44 3 4
  • FBX6A 3 4
  • FBG3 3 4
  • F-Box Only Protein 44 3
  • F-Box Gene 3 3

External Ids for FBXO44 Gene

Previous GeneCards Identifiers for FBXO44 Gene

  • GC01P011423
  • GC01P011650
  • GC01P011714
  • GC01P010868

Summaries for FBXO44 Gene

Entrez Gene Summary for FBXO44 Gene

  • 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]

GeneCards Summary for FBXO44 Gene

FBXO44 (F-Box Protein 44) is a Protein Coding gene. Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System. An important paralog of this gene is FBXO6.

UniProtKB/Swiss-Prot for FBXO44 Gene

  • Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.

Additional gene information for FBXO44 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXO44 Gene

Genomics for FBXO44 Gene

Regulatory Elements for FBXO44 Gene

Enhancers for FBXO44 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H010790 3.2 VISTA FANTOM5 ENCODE dbSUPER 10.3 -860.6 -860566 6 PKNOX1 ARID4B SIN3A ZNF2 YY1 ZNF548 SP3 REST MIER3 ZNF610 TARDBP ANGPTL7 ENSG00000226849 CLSTN1 UBIAD1 FBXO44 EXOSC10 CASZ1 GC01P010673
GH01H011924 1.6 Ensembl ENCODE dbSUPER 10.3 +272.3 272322 4 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 MFN2 CLCN6 FBXO44 PLOD1 NPPA-AS1 KIAA2013
GH01H011175 1.5 FANTOM5 ENCODE dbSUPER 10.3 -476.9 -476872 3 PKNOX1 ARNT FEZF1 ZNF2 ZNF121 ZNF766 GATA2 KLF7 YY2 TSHZ1 ENSG00000226849 LOC102724659 RNU5E-1 RNU5E-4P ANGPTL7 MTOR CLCN6 TARDBP FBXO44 EXOSC10
GH01H011707 1.2 ENCODE dbSUPER 11.4 +53.3 53262 0 HDGF NFIB ARNT NFRKB FEZF1 ZNF766 GLIS2 POLR3A SCRT2 ZNF548 EXOSC10 TARDBP AGTRAP ENSG00000226849 MTOR FBXO2 FBXO44 C1orf167 LOC102724659 MTHFR
GH01H011011 1.1 ENCODE 10.3 -641.3 -641286 3 HDGF ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 ENSG00000226849 TARDBP EXOSC10 CLCN6 ENSG00000271895 FBXO44 DFFA MASP2 ANGPTL7 ENSG00000277726
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FBXO44 on UCSC Golden Path with GeneCards custom track

Promoters for FBXO44 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000001418 425 1201 BCOR DRAP1 SAP130 ARID4B ZMYM3 ZFHX2 CTBP1 POLR2A PATZ1 KLF8

Genomic Location for FBXO44 Gene

Chromosome:
1
Start:
11,654,375 bp from pter
End:
11,663,327 bp from pter
Size:
8,953 bases
Orientation:
Plus strand

Genomic View for FBXO44 Gene

Genes around FBXO44 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXO44 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXO44 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXO44 Gene

Proteins for FBXO44 Gene

  • Protein details for FBXO44 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H4M3-FBX44_HUMAN
    Recommended name:
    F-box only protein 44
    Protein Accession:
    Q9H4M3
    Secondary Accessions:
    • B3KNZ2
    • B7Z743
    • Q5TGX2
    • Q5TGX4
    • Q5TGX5
    • Q68DJ9
    • Q8WWY2

    Protein attributes for FBXO44 Gene

    Size:
    255 amino acids
    Molecular mass:
    29747 Da
    Quaternary structure:
    • Part of a SCF (SKP1-cullin-F-box) protein ligase complex. Interacts with SKP1 and CUL1.
    Miscellaneous:
    • In contrast to other FBA domain containing proteins, FBXO44 demonstrates no significant binding to any of the 200 glycans tested.
    SequenceCaution:
    • Sequence=CAI20210.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20213.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FBXO44 Gene

    Alternative splice isoforms for FBXO44 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBXO44 Gene

Post-translational modifications for FBXO44 Gene

No Post-translational modifications

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for FBXO44

No data available for DME Specific Peptides for FBXO44 Gene

Domains & Families for FBXO44 Gene

Gene Families for FBXO44 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FBXO44 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FBXO44: view

No data available for UniProtKB/Swiss-Prot for FBXO44 Gene

Function for FBXO44 Gene

Molecular function for FBXO44 Gene

UniProtKB/Swiss-Prot Function:
Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.

Gene Ontology (GO) - Molecular Function for FBXO44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS --
GO:0005515 protein binding IPI 18203720
genes like me logo Genes that share ontologies with FBXO44: view
genes like me logo Genes that share phenotypes with FBXO44: view

Animal Models for FBXO44 Gene

MGI Knock Outs for FBXO44:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FBXO44 Gene

Localization for FBXO44 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FBXO44 gene
Compartment Confidence
cytosol 5
nucleus 3
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FBXO44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0019005 SCF ubiquitin ligase complex IDA 18203720
genes like me logo Genes that share ontologies with FBXO44: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FBXO44 Gene

Pathways & Interactions for FBXO44 Gene

genes like me logo Genes that share pathways with FBXO44: view

Gene Ontology (GO) - Biological Process for FBXO44 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0010498 proteasomal protein catabolic process IMP 25970626
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with FBXO44: view

No data available for SIGNOR curated interactions for FBXO44 Gene

Drugs & Compounds for FBXO44 Gene

No Compound Related Data Available

Transcripts for FBXO44 Gene

Unigene Clusters for FBXO44 Gene

F-box protein 44:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FBXO44 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11
SP1: -
SP2: - - - -
SP3: - - -
SP4:
SP5:
SP6: -

Relevant External Links for FBXO44 Gene

GeneLoc Exon Structure for
FBXO44
ECgene alternative splicing isoforms for
FBXO44

Expression for FBXO44 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FBXO44 Gene

mRNA differential expression in normal tissues according to GTEx for FBXO44 Gene

This gene is overexpressed in Brain - Cerebellum (x4.2).

Protein differential expression in normal tissues from HIPED for FBXO44 Gene

This gene is overexpressed in Frontal cortex (40.8), Salivary gland (13.0), Fetal Brain (8.0), and Prostate (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FBXO44 Gene



Protein tissue co-expression partners for FBXO44 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FBXO44 Gene:

FBXO44

SOURCE GeneReport for Unigene cluster for FBXO44 Gene:

Hs.556006

mRNA Expression by UniProt/SwissProt for FBXO44 Gene:

Q9H4M3-FBX44_HUMAN
Tissue specificity: Abundantly expressed in brain and kidney. Expressed at lower levels in heart, spleen and liver.

Evidence on tissue expression from TISSUES for FBXO44 Gene

  • Nervous system(4.8)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with FBXO44: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXO44 Gene

Orthologs for FBXO44 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FBXO44 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBXO44 33 34
  • 99.48 (n)
cow
(Bos Taurus)
Mammalia FBXO44 33 34
  • 92.55 (n)
mouse
(Mus musculus)
Mammalia Fbxo44 33 16 34
  • 90.46 (n)
rat
(Rattus norvegicus)
Mammalia Fbxo44 33
  • 89.67 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 76 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 70 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 57 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 48 (a)
ManyToMany
-- 34
  • 37 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii zgc:175088 34
  • 46 (a)
ManyToMany
zgc:100832 34
  • 43 (a)
ManyToMany
zgc:173570 34
  • 40 (a)
ManyToMany
fbxo44 34
  • 38 (a)
ManyToMany
zgc:153722 34
  • 37 (a)
ManyToMany
si:rp71-1k13.6 34
  • 36 (a)
ManyToMany
zgc:114174 34
  • 33 (a)
ManyToMany
zgc:114081 34
  • 32 (a)
ManyToMany
si:dkey-147f3.4 34 34
  • 29 (a)
ManyToMany
si:dkey-147f3.8 34
  • 22 (a)
ManyToMany
Species where no ortholog for FBXO44 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FBXO44 Gene

ENSEMBL:
Gene Tree for FBXO44 (if available)
TreeFam:
Gene Tree for FBXO44 (if available)

Paralogs for FBXO44 Gene

Paralogs for FBXO44 Gene

(4) SIMAP similar genes for FBXO44 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with FBXO44: view

Variants for FBXO44 Gene

Sequence variations from dbSNP and Humsavar for FBXO44 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000097533 -- 11,663,779(+) GCCTC(C/T)GGAGG downstream-variant-500B, upstream-variant-2KB
rs1000641466 -- 11,661,435(+) GCCCT(C/T)GCATG intron-variant, nc-transcript-variant, utr-variant-3-prime
rs1000704875 -- 11,660,438(+) TACAG(C/G)CATGA intron-variant
rs1001074408 -- 11,656,176(+) TAGTA(A/T)GAGCC intron-variant, upstream-variant-2KB
rs1001165716 -- 11,653,494(+) TTGGG(A/T)GCAAG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for FBXO44 Gene

Variant ID Type Subtype PubMed ID
esv3545677 CNV deletion 23714750
nsv1075569 CNV deletion 25765185
nsv1112519 CNV deletion 24896259
nsv521468 CNV loss 19592680
nsv545416 CNV loss 21841781
nsv545417 CNV loss 21841781
nsv832758 CNV loss 17160897

Variation tolerance for FBXO44 Gene

Residual Variation Intolerance Score: 85.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.57; 65.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FBXO44 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXO44

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXO44 Gene

Disorders for FBXO44 Gene

Relevant External Links for FBXO44

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBXO44

No disorders were found for FBXO44 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FBXO44 Gene

Publications for FBXO44 Gene

  1. A new subfamily of structurally related human F-box proteins. (PMID: 12383498) Ilyin GP … Guguen-Guillouzo C (Gene 2002) 2 3 4 22 60
  2. Diversity in tissue expression, substrate binding, and SCF complex formation for a lectin family of ubiquitin ligases. (PMID: 18203720) Glenn KA … Paulson HL (The Journal of biological chemistry 2008) 3 4 22 60
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for FBXO44 Gene

Sources for FBXO44 Gene

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