Aliases for FBXO42 Gene
Aliases for FBXO42 Gene
External Ids for FBXO42 Gene
- HGNC: 29249
- Entrez Gene: 54455
- Ensembl: ENSG00000037637
- OMIM: 609109
- UniProtKB: Q6P3S6
Previous GeneCards Identifiers for FBXO42 Gene
- GC01M015956
- GC01M016321
- GC01M016445
- GC01M016575
- GC01M016577
- GC01M015093
- GC01M016580
- GC01M016582
- GC01M016584
- GC01M016593
- GC01M016603
- GC01M016612
- GC01M016620
Summaries for FBXO42 Gene
-
Members of the F-box protein family, such as FBXO42, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (SKP1A; 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 (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Dec 2010]
GeneCards Summary for FBXO42 Gene
FBXO42 (F-Box Protein 42) is a Protein Coding gene. Diseases associated with FBXO42 include Parkinson Disease 15, Autosomal Recessive.
UniProtKB/Swiss-Prot for FBXO42 Gene
-
Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Specifically recognizes p53/TP53, 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 FBXO42 Gene
Genomics for FBXO42 Gene
Regulatory Elements for FBXO42 Gene
Enhancers for FBXO42 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FBXO42 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the FBXO42 gene promoter:
Regulatory Element Products
Genomic Location for FBXO42 Gene
- Chromosome:
- 1
- Start:
- 16,246,839 bp from pter
- End:
- 16,352,491 bp from pter
- Size:
- 105,653 bases
- Orientation:
- Minus strand
Genomic View for FBXO42 Gene
Genes around FBXO42 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p36.13 by Ensembl
- 1p36.13 by Entrez Gene
- 1p36.13 by HGNC
FBXO42 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 FBXO42 Gene
Proteins for FBXO42 Gene
-
Protein details for FBXO42 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6P3S6-FBX42_HUMAN
- Recommended name:
- F-box only protein 42
- Protein Accession:
- Q6P3S6
- B3KP30
- Q5TEU8
- Q86XI0
- Q8N3N4
- Q8N5F8
- Q9BRM0
- Q9P2L4
Protein attributes for FBXO42 Gene
- Size:
- 717 amino acids
- Molecular mass:
- 77839 Da
- Quaternary structure:
-
- Component of some SCF complex, composed of CUL1, SKP1, RBX1 and FBXO42. Interacts (via the kelch domain) with p53/TP53; interaction is direct.
- SequenceCaution:
-
- Sequence=CAI22561.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for FBXO42 Gene
Post-translational modifications for FBXO42 Gene
Other Protein References for FBXO42 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
Abcam proteins for FBXO42
Assay Products
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No data available for DME Specific Peptides for FBXO42 Gene
Domains & Families for FBXO42 Gene
Gene Families for FBXO42 Gene
- HGNC:
Protein Domains for FBXO42 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for FBXO42 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for FBXO42 Gene
Function for FBXO42 Gene
Molecular function for FBXO42 Gene
- UniProtKB/Swiss-Prot Function:
- Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Specifically recognizes p53/TP53, promoting its ubiquitination and degradation.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25609649 |
Phenotypes for FBXO42 Gene
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miRNA for FBXO42 Gene
- miRTarBase miRNAs that target FBXO42
-
- hsa-mir-186-5p (MIRT044952)
- hsa-mir-1281 (MIRT625820)
- hsa-mir-6881-3p (MIRT625821)
- hsa-mir-6749-3p (MIRT625822)
- hsa-mir-6792-3p (MIRT625823)
- hsa-mir-4691-5p (MIRT625824)
- hsa-mir-627-3p (MIRT625825)
- hsa-mir-877-3p (MIRT625826)
- hsa-mir-660-3p (MIRT625827)
- hsa-mir-5193 (MIRT625828)
- hsa-mir-4659b-3p (MIRT645397)
- hsa-mir-4659a-3p (MIRT645398)
- hsa-mir-6875-3p (MIRT645399)
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FBXO42 Gene
Localization for FBXO42 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| cytosol | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FBXO42 Gene
Pathways & Interactions for FBXO42 Gene
No Data Available
Interacting Proteins for FBXO42 Gene
Selected Interacting proteins:
ENSP00000364742
Q6P3S6-FBX42_HUMAN
for FBXO42 Gene via
STRING
IID
UniProtKB
No data available for Pathways by source and SIGNOR curated interactions for FBXO42 Gene
Transcripts for FBXO42 Gene
mRNA/cDNA for FBXO42 Gene
- (4) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (153) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
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| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4a | · | 4b | · | 4c | · | 4d | · | 4e | · | 4f | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: |
| ExUns: | 11b | ^ | 12 | ^ | 13a | · | 13b |
|---|---|---|---|---|---|---|---|
| SP1: | |||||||
| SP2: | |||||||
| SP3: | |||||||
| SP4: | |||||||
| SP5: | |||||||
| SP6: | |||||||
| SP7: | |||||||
| SP8: | |||||||
| SP9: | |||||||
| SP10: | |||||||
| SP11: | |||||||
| SP12: | |||||||
| SP13: |
Expression for FBXO42 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (36.1), Fetal Brain (16.0), and Placenta (7.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FBXO42 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of FBXO42 Gene:
FBXO42SOURCE GeneReport for Unigene cluster for FBXO42 Gene:
Hs.522384Evidence on tissue expression from TISSUES for FBXO42 Gene
- Nervous system(3.4)
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-
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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 FBXO42 Gene
Orthologs for FBXO42 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FBXO42 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FBXO42 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| rat (Rattus norvegicus) |
Mammalia | Fbxo42 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | FBXO42 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Fbxo42 34 16 35 |
|
||
| cow (Bos Taurus) |
Mammalia | FBXO42 34 35 |
|
||
| chicken (Gallus gallus) |
Aves | FBXO42 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FBXO42 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fbxo42 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.5343 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fbxo42 34 35 |
|
||
| Dr.24223 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG6758 35 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | Y50D7A.1 35 |
|
OneToOne |
- Species where no ortholog for FBXO42 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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)
- 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)
- wheat (Triticum aestivum)
Paralogs for FBXO42 Gene
No data available for Paralogs for FBXO42 Gene
Variants for FBXO42 Gene
| SNP ID | Clin | Chr 01 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000008027 | -- | 16,292,254(+) | AGCAT(A/T)ACCTT | intron-variant | |
| rs1000042450 | -- | 16,295,870(+) | AAAAA(A/G)CATGG | intron-variant | |
| rs1000048001 | -- | 16,317,002(+) | AAGGC(C/T)GGATG | intron-variant, upstream-variant-2KB | |
| rs1000099011 | -- | 16,308,115(+) | TAGAG(A/C/G)GCCAA | intron-variant | |
| rs1000142923 | -- | 16,260,240(+) | ATCTC(A/G)CTCTG | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv18e212 | CNV | gain | 25503493 |
| esv1036042 | CNV | insertion | 17803354 |
| esv2618916 | CNV | deletion | 19546169 |
| esv2667137 | CNV | deletion | 23128226 |
| esv3577750 | CNV | loss | 25503493 |
| esv3585334 | CNV | gain | 21293372 |
| esv3585336 | CNV | loss | 21293372 |
| nsv1113081 | CNV | deletion | 24896259 |
| nsv3520 | CNV | insertion | 18451855 |
| nsv545641 | CNV | loss | 21841781 |
| nsv545642 | CNV | loss | 21841781 |
| nsv833869 | CNV | loss | 17160897 |
| nsv947414 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
5.93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.12;
75.54% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for FBXO42 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- FBXO42
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXO42 Gene
Disorders for FBXO42 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| parkinson disease 15, autosomal recessive |
|
|
Search FBXO42 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for FBXO42
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- FBXO42
No data available for UniProtKB/Swiss-Prot and Genatlas for FBXO42 Gene
Publications for FBXO42 Gene
- Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 64
- JFK, a Kelch domain-containing F-box protein, links the SCF complex to p53 regulation. (PMID: 19509332) Sun L. … Shang Y. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 4 64
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
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Sources for FBXO42 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
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer