Aliases for FBXO45 Gene
Aliases for FBXO45 Gene
External Ids for FBXO45 Gene
- HGNC: 29148
- Entrez Gene: 200933
- Ensembl: ENSG00000174013
- OMIM: 609112
- UniProtKB: P0C2W1
Previous GeneCards Identifiers for FBXO45 Gene
- GC00U915701
- GC03P197784
- GC03P196295
- GC03P193593
Summaries for FBXO45 Gene
-
Members of the F-box protein family, such as FBXO45, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (summary by Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Jan 2011]
GeneCards Summary for FBXO45 Gene
FBXO45 (F-Box Protein 45) is a Protein Coding gene. Diseases associated with FBXO45 include Chromosome 3Q29 Duplication Syndrome and Chromosome 3Q29 Microduplication Syndrome. An important paralog of this gene is SPSB2.
UniProtKB/Swiss-Prot for FBXO45 Gene
-
Component of E3 ubiquitin ligase complexes. Required for normal neuromuscular synaptogenesis, axon pathfinding and neuronal migration (By similarity). Plays a role in the regulation of neurotransmission at mature neurons (By similarity). May controls synaptic activity by controlling UNC13A via ubiquitin dependent pathway (By similarity). Specifically recognizes TP73, promoting its ubiquitination and degradation.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBXO45 Gene
Genomics for FBXO45 Gene
Regulatory Elements for FBXO45 Gene
Enhancers for FBXO45 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FBXO45 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for FBXO45 Gene
- Chromosome:
- 3
- Start:
- 196,568,611 bp from pter
- End:
- 196,589,059 bp from pter
- Size:
- 20,449 bases
- Orientation:
- Plus strand
Genomic View for FBXO45 Gene
Genes around FBXO45 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3q29 by Ensembl
- 3q29 by Entrez Gene
- 3q29 by HGNC
FBXO45 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FBXO45 Gene
Proteins for FBXO45 Gene
-
Protein details for FBXO45 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P0C2W1-FBSP1_HUMAN
- Recommended name:
- F-box/SPRY domain-containing protein 1
- Protein Accession:
- P0C2W1
- A6NF90
- D3DXB5
Protein attributes for FBXO45 Gene
- Size:
- 286 amino acids
- Molecular mass:
- 30633 Da
- Quaternary structure:
-
- Forms a complex with MYCBP2 and SKP1 but does not appear to form an authentic SCF (SKP1-CUL1-F-box protein) complex (By similarity). Interacts (via B30.2/SPRY domain) with TP73 (via SAM domain); leading to TP73 ubiquitination and degradation by proteasome. Interacts (via SRY domain) with UNC13A; leading to degradation of UNC13A by the proteasome (By similarity).
Protein Expression for FBXO45 Gene
Post-translational modifications for FBXO45 Gene
Other Protein References for FBXO45 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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- GeneTex Myog antibody for FBXO45
Protein Products
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- antibodies-online Proteins for FBXO45: See all 8
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Assay Products
- antibodies-online Kits for FBXO45: See all 17
No data available for DME Specific Peptides for FBXO45 Gene
Domains & Families for FBXO45 Gene
Gene Families for FBXO45 Gene
- HGNC:
Protein Domains for FBXO45 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FBXO45 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P0C2W1- Family:
-
- Belongs to the FBXO45/Fsn family.
Function for FBXO45 Gene
Molecular function for FBXO45 Gene
- UniProtKB/Swiss-Prot Function:
- Component of E3 ubiquitin ligase complexes. Required for normal neuromuscular synaptogenesis, axon pathfinding and neuronal migration (By similarity). Plays a role in the regulation of neurotransmission at mature neurons (By similarity). May controls synaptic activity by controlling UNC13A via ubiquitin dependent pathway (By similarity). Specifically recognizes TP73, promoting its ubiquitination and degradation.
- UniProtKB/Swiss-Prot Induction:
- Down-regulated in response to DNA-damage.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 19581926 |
Phenotypes for FBXO45 Gene
- MGI mutant phenotypes for FBXO45:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for FBXO45:
Animal Models for FBXO45 Gene
- MGI Knock Outs for FBXO45:
-
- Fbxo45 tm1Kei
Animal Model Products
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CRISPR Products
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-
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miRNA for FBXO45 Gene
- miRTarBase miRNAs that target FBXO45
-
- hsa-mir-1-3p (MIRT023967)
- hsa-mir-769-5p (MIRT039138)
- hsa-mir-92a-3p (MIRT049278)
- hsa-mir-30a-5p (MIRT091575)
- hsa-mir-30c-5p (MIRT091576)
- hsa-mir-30d-5p (MIRT091577)
- hsa-mir-30b-5p (MIRT091579)
- hsa-mir-30e-5p (MIRT091580)
- hsa-mir-485-5p (MIRT162115)
- hsa-mir-6884-5p (MIRT162152)
- hsa-mir-8485 (MIRT623949)
- hsa-mir-329-3p (MIRT623950)
- hsa-mir-362-3p (MIRT623951)
- hsa-mir-665 (MIRT703578)
- hsa-mir-6513-5p (MIRT703579)
- hsa-mir-887-5p (MIRT703580)
- hsa-mir-3913-5p (MIRT703581)
- hsa-mir-3122 (MIRT703582)
- hsa-mir-450a-1-3p (MIRT703583)
- hsa-mir-6780a-5p (MIRT703584)
- hsa-mir-6779-5p (MIRT703585)
- hsa-mir-3689c (MIRT703586)
- hsa-mir-3689b-3p (MIRT703587)
- hsa-mir-3689a-3p (MIRT703588)
- hsa-mir-30b-3p (MIRT703589)
- hsa-mir-1273h-5p (MIRT703590)
- hsa-mir-6788-5p (MIRT703591)
- hsa-mir-30c-2-3p (MIRT703592)
- hsa-mir-30c-1-3p (MIRT703593)
- hsa-mir-7977 (MIRT703594)
- hsa-mir-513b-5p (MIRT703595)
- hsa-mir-6748-5p (MIRT703596)
- hsa-mir-6769b-5p (MIRT703597)
- hsa-mir-6769a-5p (MIRT703598)
- hsa-mir-3165 (MIRT703599)
- hsa-mir-4483 (MIRT703600)
- hsa-mir-1293 (MIRT703601)
- hsa-mir-6766-5p (MIRT703602)
- hsa-mir-6756-5p (MIRT703603)
- hsa-mir-6745 (MIRT703604)
- hsa-mir-363-5p (MIRT703605)
- hsa-mir-6799-5p (MIRT703606)
- hsa-mir-6883-5p (MIRT703607)
- hsa-mir-6785-5p (MIRT703608)
- hsa-mir-4728-5p (MIRT703609)
- hsa-mir-149-3p (MIRT703610)
- hsa-mir-7106-5p (MIRT703611)
- hsa-mir-7160-5p (MIRT703612)
- hsa-mir-6134 (MIRT703613)
- hsa-mir-7854-3p (MIRT703614)
- hsa-mir-7162-3p (MIRT703615)
- hsa-mir-383-3p (MIRT703616)
- hsa-mir-125b-2-3p (MIRT703617)
- hsa-mir-4457 (MIRT703618)
- hsa-mir-4478 (MIRT703619)
- hsa-mir-4419b (MIRT703620)
- hsa-mir-3929 (MIRT703621)
- hsa-mir-624-3p (MIRT703622)
- hsa-mir-3974 (MIRT703623)
miRNA Products
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FBXO45 Gene
Localization for FBXO45 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FBXO45 Gene
- Cell junction, synapse, postsynaptic cell membrane. Cell junction, synapse, presynaptic cell membrane.
| Compartment | Confidence |
|---|---|
| plasma membrane | 3 |
| cytosol | 3 |
| extracellular | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0014069 | postsynaptic density | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0030054 | cell junction | IEA | -- |
| GO:0042734 | presynaptic membrane | IEA | -- |
Pathways & Interactions for FBXO45 Gene
No Data Available
UniProtKB/Swiss-Prot P0C2W1-FBSP1_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for FBXO45 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001764 | neuron migration | IEA | -- |
| GO:0006974 | cellular response to DNA damage stimulus | IDA | 19581926 |
| GO:0007275 | multicellular organism development | IEA | -- |
| GO:0007399 | nervous system development | IEA | -- |
| GO:0016567 | protein ubiquitination | ISS | -- |
No data available for Pathways by source and SIGNOR curated interactions for FBXO45 Gene
Transcripts for FBXO45 Gene
mRNA/cDNA for FBXO45 Gene
- (1) REFSEQ mRNAs :
- (1) Additional mRNA sequences :
- (139) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FBXO45 Gene
- F-box protein 45:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for FBXO45
-
Santa Cruz Biotechnology (SCBT) CRISPR for FBXO45
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miRNA Products
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Inhibitory RNA Products
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Expression for FBXO45 Gene
This gene is overexpressed in Pancreatic juice (52.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FBXO45 Gene
NURSA nuclear receptor signaling pathways regulating expression of FBXO45 Gene:
FBXO45SOURCE GeneReport for Unigene cluster for FBXO45 Gene:
Hs.169815Evidence on tissue expression from TISSUES for FBXO45 Gene
- Nervous system(2.4)
Primer Products
-
OriGene qPCR primer pairs for FBXO45
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXO45 Gene
Orthologs for FBXO45 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FBXO45 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | FBXO45 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FBXO45 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FBXO45 35 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Fbxo45 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Fbxo45 34 16 35 |
|
||
| chicken (Gallus gallus) |
Aves | FBXO45 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FBXO45 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fbxo45 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | 3g27-prov 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fbxo45 34 35 |
|
||
| zgc65875 34 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.14037 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Fsn 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012460 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | fsn-1 35 34 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.6685 35 |
|
OneToOne | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.980 34 |
|
- Species where no ortholog for FBXO45 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- 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)
- platypus (Ornithorhynchus anatinus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- 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)
- wheat (Triticum aestivum)
Paralogs for FBXO45 Gene
Variants for FBXO45 Gene
| SNP ID | Clin | Chr 03 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000296141 | -- | 196,572,328(+) | TCAAA(A/T)AATCA | intron-variant | |
| rs1000496381 | -- | 196,571,086(+) | GGATA(C/T)TGGTT | intron-variant | |
| rs1000828530 | -- | 196,576,970(+) | TATCA(A/G)ATATA | intron-variant | |
| rs1000843650 | -- | 196,583,334(+) | AACCC(A/G)TCTCT | intron-variant | |
| rs1000880689 | -- | 196,577,333(+) | TACTT(C/G)TGTTA | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1003066 | CNV | gain | 25217958 |
| nsv1014692 | CNV | gain | 25217958 |
| nsv829828 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
43.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.76;
16.13% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for FBXO45 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXO45 Gene
Disorders for FBXO45 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| chromosome 3q29 duplication syndrome |
|
|
| chromosome 3q29 microduplication syndrome |
|
|
Search FBXO45 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for FBXO45
No data available for UniProtKB/Swiss-Prot and Genatlas for FBXO45 Gene
Publications for FBXO45 Gene
- The F-box protein FBXO45 promotes the proteasome-dependent degradation of p73. (PMID: 19581926) Peschiaroli A. … Melino G. (Oncogene 2009) 3 4 64
- Characterization of estrogen-induced F-box protein FBXO45. (PMID: 16012741) Yoshida K. (Oncol. Rep. 2005) 3 22 64
- Systematic analysis and nomenclature of mammalian F-box proteins. (PMID: 15520277) Jin J. … Harper J.W. (Genes Dev. 2004) 3 4 64
- Low Expression of FBXO45 Is Associated with Gastric Cancer Progression and Poor Prognosis. (PMID: 28011490) Kogure N. … Kuwano H. (Anticancer Res. 2017) 3 64
- The Dual Estrogen Receptor I+ Inhibitory Effects of the Tissue-Selective Estrogen Complex for Endometrial and Breast Safety. (PMID: 26487511) Han S.J. … O'Malley B.W. (Mol. Pharmacol. 2016) 3 64
Products for FBXO45 Gene
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for FBXO45 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
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