This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variant... See more...

Aliases for FBXL19 Gene

Aliases for FBXL19 Gene

  • F-Box And Leucine Rich Repeat Protein 19 2 3 5
  • Jumonji C Domain-Containing Histone Demethylase 1C 2 3
  • F-Box/LRR-Repeat Protein 19 3 4
  • CXXC11 2 3
  • JHDM1C 2 3
  • Fbl19 2 3
  • F-Box And Leucine-Rich Repeat Protein 19 4
  • DKFZp434K0410 2
  • FBXL19 5
  • FBL19 4

External Ids for FBXL19 Gene

Previous GeneCards Identifiers for FBXL19 Gene

  • GC16P030970
  • GC16P030841
  • GC16P030843
  • GC16P028498

Summaries for FBXL19 Gene

Entrez Gene Summary for FBXL19 Gene

  • This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

GeneCards Summary for FBXL19 Gene

FBXL19 (F-Box And Leucine Rich Repeat Protein 19) is a Protein Coding gene. Diseases associated with FBXL19 include Psoriasis 6 and Psoriasis 2. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is FBXL13.

UniProtKB/Swiss-Prot Summary for FBXL19 Gene

  • Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex (By similarity). Binds to DNA containing unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides (PubMed:29276034).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FBXL19 Gene

Genomics for FBXL19 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FBXL19 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FBXL19 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FBXL19

Top Transcription factor binding sites by QIAGEN in the FBXL19 gene promoter:
  • AP-4
  • ARP-1
  • CREB
  • CUTL1
  • deltaCREB
  • E47
  • Hand1
  • NF-1
  • STAT5A
  • Zic3

Genomic Locations for FBXL19 Gene

Latest Assembly
chr16:30,922,851-30,948,783
(GRCh38/hg38)
Size:
25,933 bases
Orientation:
Plus strand

Previous Assembly
chr16:30,934,172-30,960,104
(GRCh37/hg19 by Entrez Gene)
Size:
25,933 bases
Orientation:
Plus strand

chr16:30,934,376-30,960,104
(GRCh37/hg19 by Ensembl)
Size:
25,729 bases
Orientation:
Plus strand

Genomic View for FBXL19 Gene

Genes around FBXL19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FBXL19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FBXL19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBXL19 Gene

Proteins for FBXL19 Gene

  • Protein details for FBXL19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PCT2-FXL19_HUMAN
    Recommended name:
    F-box/LRR-repeat protein 19
    Protein Accession:
    Q6PCT2
    Secondary Accessions:
    • A8MT10
    • Q8N789
    • Q9NT14

    Protein attributes for FBXL19 Gene

    Size:
    694 amino acids
    Molecular mass:
    75707 Da
    Quaternary structure:
    • Directly interacts with SKP1 and CUL1.
    SequenceCaution:
    • Sequence=AAH59173.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC05410.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FBXL19 Gene

    Alternative splice isoforms for FBXL19 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBXL19 Gene

Post-translational modifications for FBXL19 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FBXL19 Gene

Domains & Families for FBXL19 Gene

Gene Families for FBXL19 Gene

Suggested Antigen Peptide Sequences for FBXL19 Gene

GenScript: Design optimal peptide antigens:
  • F-box and leucine-rich repeat protein 19 (FXL19_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6PCT2

UniProtKB/Swiss-Prot:

FXL19_HUMAN :
  • The CXXC zinc finger mediates binding to DNA containing unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides.
Domain:
  • The CXXC zinc finger mediates binding to DNA containing unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides.
genes like me logo Genes that share domains with FBXL19: view

Function for FBXL19 Gene

Molecular function for FBXL19 Gene

UniProtKB/Swiss-Prot Function:
Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex (By similarity). Binds to DNA containing unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides (PubMed:29276034).

Phenotypes From GWAS Catalog for FBXL19 Gene

Gene Ontology (GO) - Molecular Function for FBXL19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003712 transcription coregulator activity IBA 21873635
GO:0005515 protein binding IEA,IPI 22660580
GO:0008270 zinc ion binding IEA,IDA 29276034
GO:0032452 histone demethylase activity IBA 21873635
genes like me logo Genes that share ontologies with FBXL19: view
genes like me logo Genes that share phenotypes with FBXL19: view

Animal Models for FBXL19 Gene

MGI Knock Outs for FBXL19:
  • Fbxl19 Fbxl19<tm1b(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBXL19

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FBXL19 Gene

Localization for FBXL19 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 FBXL19 gene
Compartment Confidence
cytosol 4
cytoskeleton 3
nucleus 3
plasma membrane 1
extracellular 1
mitochondrion 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FBXL19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IBA --
GO:0005829 cytosol TAS --
GO:0019005 SCF ubiquitin ligase complex IDA 22660580
genes like me logo Genes that share ontologies with FBXL19: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FBXL19 Gene

Pathways & Interactions for FBXL19 Gene

genes like me logo Genes that share pathways with FBXL19: view

Gene Ontology (GO) - Biological Process for FBXL19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0006482 protein demethylation IBA 21873635
GO:0016577 histone demethylation IEA --
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IDA 22660580
genes like me logo Genes that share ontologies with FBXL19: view

No data available for SIGNOR curated interactions for FBXL19 Gene

Drugs & Compounds for FBXL19 Gene

(1) Drugs for FBXL19 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tumor necrosis factor alpha (TNF-alpha) inhibitors Pharma 0
genes like me logo Genes that share compounds with FBXL19: view

Transcripts for FBXL19 Gene

mRNA/cDNA for FBXL19 Gene

7 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FBXL19

Alternative Splicing Database (ASD) splice patterns (SP) for FBXL19 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12
SP1: - -
SP2: -
SP3:
SP4:
SP5: -
SP6: -

Relevant External Links for FBXL19 Gene

GeneLoc Exon Structure for
FBXL19

Expression for FBXL19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FBXL19 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FBXL19 Gene

This gene is overexpressed in Heart (60.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FBXL19 Gene



Protein tissue co-expression partners for FBXL19 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FBXL19

SOURCE GeneReport for Unigene cluster for FBXL19 Gene:

Hs.152149

Evidence on tissue expression from TISSUES for FBXL19 Gene

  • Intestine(4.2)
genes like me logo Genes that share expression patterns with FBXL19: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FBXL19 Gene

Orthologs for FBXL19 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for FBXL19 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FBXL19 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia FBXL19 30 31
  • 94.38 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FBXL19 30 31
  • 93.5 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fbxl19 30 17 31
  • 89.66 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FBXL19 31
  • 55 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FBXL19 31
  • 2 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FBXL19 31
  • 66 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii zgc:158376 30
  • 64.44 (n)
FBXL19 31
  • 33 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Kdm2 31
  • 13 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea jhdm-1 31
  • 8 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes JHD1 31
  • 1 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 16 (a)
OneToMany
Species where no ortholog for FBXL19 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for FBXL19 Gene

ENSEMBL:
Gene Tree for FBXL19 (if available)
TreeFam:
Gene Tree for FBXL19 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FBXL19: view image

Paralogs for FBXL19 Gene

(3) SIMAP similar genes for FBXL19 Gene using alignment to 8 proteins:

  • FXL19_HUMAN
  • H3BME1_HUMAN
  • H3BPI8_HUMAN
  • H3BPZ0_HUMAN
  • H3BQP6_HUMAN
  • H3BTJ3_HUMAN
  • H3BVB1_HUMAN
  • H7C112_HUMAN
genes like me logo Genes that share paralogs with FBXL19: view

Variants for FBXL19 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FBXL19 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
930418 Uncertain Significance: See cases 30,930,487(+) CACCCCCTGCCCCGG/
NM_001382779.1(FBXL19):c.1205_1218del (p.His402fs)
FRAMESHIFT
976383 Uncertain Significance: Neurodevelopmental delay 30,925,767(+) A/AGCCGGGG
NM_001382779.1(FBXL19):c.26_32dup (p.Ala12fs)
FRAMESHIFT
rs201252774 Benign: not provided 30,927,867(+) C/T
NM_001099784.2(FBXL19):c.591C>T (p.Gly197=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs377258541 Benign: not provided 30,925,907(+) G/A
NM_001099784.2(FBXL19):c.213G>A (p.Ser71=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs61738491 Benign: not provided 30,947,160(+) G/A
NM_001099784.2(FBXL19):c.2015G>A (p.Arg672Gln)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FBXL19 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FBXL19 Gene

Variant ID Type Subtype PubMed ID
dgv35n68 CNV loss 17160897
esv3373106 CNV insertion 20981092
esv3638389 CNV loss 21293372
nsv1070344 CNV deletion 25765185
nsv457483 CNV loss 19166990
nsv571820 CNV loss 21841781
nsv833189 CNV loss 17160897
nsv953802 CNV deletion 24416366

Variation tolerance for FBXL19 Gene

Residual Variation Intolerance Score: 31.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.53; 88.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FBXL19 Gene

Human Gene Mutation Database (HGMD)
FBXL19
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBXL19

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBXL19 Gene

Disorders for FBXL19 Gene

MalaCards: The human disease database

(4) MalaCards diseases for FBXL19 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
psoriasis 6
  • psoriasis 6, susceptibility to
psoriasis 2
  • psors2
psoriasis
corneal abscess
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FBXL19

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FBXL19: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FBXL19 Gene

Publications for FBXL19 Gene

  1. DNA Sequence Recognition of Human CXXC Domains and Their Structural Determinants. (PMID: 29276034) Xu C … Min J (Structure (London, England : 1993) 2018) 3 4
  2. Genome-wide association analysis identifies three psoriasis susceptibility loci. (PMID: 20953189) Stuart PE … Elder JT (Nature genetics 2010) 3 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. 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
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for FBXL19 Gene

Sources for FBXL19 Gene