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Aliases for IL4I1 Gene

Aliases for IL4I1 Gene

  • Interleukin 4 Induced 1 2 3 5
  • IL4-Induced Protein 1 3 4
  • FIG1 3 4
  • LAAO 3 4
  • LAO 3 4
  • Interleukin-4-Induced Protein 1 4
  • Interleukin Four Induced 1 3
  • L-Amino-Acid Oxidase 3
  • Fig-1 Protein 3
  • Protein Fig-1 4
  • EC 1.4.3.2 4
  • HFIG1 4

External Ids for IL4I1 Gene

Previous GeneCards Identifiers for IL4I1 Gene

  • GC19U990319
  • GC19M050741
  • GC19M055069
  • GC19M055065
  • GC19M055085
  • GC19M055070
  • GC19M055090
  • GC19M055092
  • GC19M055094
  • GC19M055096
  • GC19M055098
  • GC19M055099
  • GC19M055100
  • GC19M055106
  • GC19M055108
  • GC19M050392
  • GC19M046769

Summaries for IL4I1 Gene

Entrez Gene Summary for IL4I1 Gene

  • This gene encodes a protein with limited similarity to L-amino acid oxidase which contains the conserved amino acids thought to be involved in catalysis and binding of flavin adenine dinucleotide (FAD) cofactor. The expression of this gene can be induced by interleukin 4 in B cells, however, expression of transcripts containing the first two exons of the upstream gene is found in other cell types. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

GeneCards Summary for IL4I1 Gene

IL4I1 (Interleukin 4 Induced 1) is a Protein Coding gene. Diseases associated with IL4I1 include Posterior Myocardial Infarction and Mitral Valve Insufficiency. Among its related pathways are Metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. GO annotations related to this gene include oxidoreductase activity and L-amino-acid oxidase activity.

UniProtKB/Swiss-Prot for IL4I1 Gene

  • Lysosomal L-amino-acid oxidase with highest specific activity with phenylalanine. May play a role in lysosomal antigen processing and presentation (By similarity).

Additional gene information for IL4I1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IL4I1 Gene

Genomics for IL4I1 Gene

Regulatory Elements for IL4I1 Gene

Enhancers for IL4I1 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
GH19H049921 1.6 FANTOM5 ENCODE dbSUPER 8.1 +6.5 6518 3.4 FOXA2 YY1 ZNF766 ELK1 ZNF143 FOS KLF7 ATF7 RUNX3 SP3 FCGRT CPT1C NUP62 FLT3LG IL4I1 NR1H2 PTOV1-AS1 ATF5 RPS11 PIR32099
GH19H049910 1.7 FANTOM5 Ensembl ENCODE dbSUPER 7.6 +17.6 17551 3.9 HDGF CTCF PKNOX1 ARID4B EBF1 BATF RAD21 RELA ZNF121 POLR2A TBC1D17 AKT1S1 PTOV1 ENSG00000221125 NUP62 NR1H2 IL4I1 ATF5 FCGRT RPS11
GH19H050003 1.1 Ensembl ENCODE 10.9 -74.8 -74817 1.9 HDAC1 HDGF ATF1 TBL1XR1 INSM2 BATF ZNF766 ZNF366 FOS RUNX3 VRK3 DKKL1 PTOV1 ZNF473 SCAF1 IL4I1 NUP62 ATF5 SIGLEC16 SIGLEC11
GH19H049983 0.8 ENCODE 11.8 -54.3 -54280 0.2 HDGF CTCF SAP130 RB1 TBL1XR1 ARID4B RAD21 CC2D1A POLR2A SCRT2 SIGLEC16 ENSG00000221125 NUP62 IL4I1 ATF5 ENSG00000276729
GH19H049980 0.8 ENCODE 11.8 -52.7 -52677 2.6 CTCF TAL1 ZNF266 ZMYM3 FOSL1 TCF12 GATA2 EGR1 POLR2A NCOR1 SIGLEC16 NUP62 VRK3 POLD1 PTOV1-AS2 SNORD35A IRF3 SNORD35B SIGLEC11 ALDH16A1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IL4I1 on UCSC Golden Path with GeneCards custom track

Promoters for IL4I1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000110984 139 2401 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Locations for IL4I1 Gene

Genomic Locations for IL4I1 Gene
chr19:49,889,654-49,929,539
(GRCh38/hg38)
Size:
39,886 bases
Orientation:
Minus strand
chr19:50,392,911-50,432,796
(GRCh37/hg19)

Genomic View for IL4I1 Gene

Genes around IL4I1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IL4I1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IL4I1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IL4I1 Gene

Proteins for IL4I1 Gene

  • Protein details for IL4I1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RQ9-OXLA_HUMAN
    Recommended name:
    L-amino-acid oxidase
    Protein Accession:
    Q96RQ9
    Secondary Accessions:
    • Q1WMJ3
    • Q4GZN1
    • Q4GZN2
    • Q6P2Q3
    • Q8TEM5
    • Q96RQ8

    Protein attributes for IL4I1 Gene

    Size:
    567 amino acids
    Molecular mass:
    62881 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB84923.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI54291.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI54292.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI54293.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IL4I1 Gene

    Alternative splice isoforms for IL4I1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IL4I1 Gene

Post-translational modifications for IL4I1 Gene

  • Glycosylation at isoforms=254, isoforms=2134, posLast=220220, and isoforms=2559
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IL4I1 Gene

Domains & Families for IL4I1 Gene

Gene Families for IL4I1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

Protein Domains for IL4I1 Gene

Suggested Antigen Peptide Sequences for IL4I1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96RQ9

UniProtKB/Swiss-Prot:

OXLA_HUMAN :
  • Belongs to the flavin monoamine oxidase family. FIG1 subfamily.
Family:
  • Belongs to the flavin monoamine oxidase family. FIG1 subfamily.
genes like me logo Genes that share domains with IL4I1: view

Function for IL4I1 Gene

Molecular function for IL4I1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
An L-amino acid + H(2)O + O(2) = a 2-oxo acid + NH(3) + H(2)O(2).
UniProtKB/Swiss-Prot Function:
Lysosomal L-amino-acid oxidase with highest specific activity with phenylalanine. May play a role in lysosomal antigen processing and presentation (By similarity).
UniProtKB/Swiss-Prot Induction:
By IL4/interleukin-4.

Enzyme Numbers (IUBMB) for IL4I1 Gene

Phenotypes From GWAS Catalog for IL4I1 Gene

Gene Ontology (GO) - Molecular Function for IL4I1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001716 L-amino-acid oxidase activity EXP 17356132
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with IL4I1: view
genes like me logo Genes that share phenotypes with IL4I1: view

Animal Models for IL4I1 Gene

MGI Knock Outs for IL4I1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for IL4I1 Gene

Localization for IL4I1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IL4I1 Gene

Isoform 1: Lysosome.
Isoform 2: Lysosome.

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 IL4I1 gene
Compartment Confidence
extracellular 5
lysosome 4
plasma membrane 3
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for IL4I1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005764 lysosome IEA --
genes like me logo Genes that share ontologies with IL4I1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IL4I1 Gene

Pathways & Interactions for IL4I1 Gene

genes like me logo Genes that share pathways with IL4I1: view

Gene Ontology (GO) - Biological Process for IL4I1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006559 L-phenylalanine catabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with IL4I1: view

No data available for SIGNOR curated interactions for IL4I1 Gene

Drugs & Compounds for IL4I1 Gene

(25) Drugs for IL4I1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
Oxygen Approved, Vet_approved Pharma 0
Ammonia Approved Pharma 0
Hydrogen peroxide Approved, Vet_approved Pharma 68
Water Approved Pharma 0

(17) Additional Compounds for IL4I1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Oxo-4-methylthiobutanoic acid
  • 2-Keto-4-methylthiobutyrate
  • 2-Keto-4-methylthiobutyric acid
  • 2-Ketomethiobutyrate
  • 2-Oxo-4-methylthiobutanoate
  • 2-Oxo-4-methylthiobutanoic acid
583-92-6
3-Methyl-2-oxovaleric acid
  • (3R)-3-Methyl-2-oxopentanoate
  • (3R)-3-Methyl-2-oxopentanoic acid
  • (R)-3-methyl-2-oxopentanoate
  • (R)-3-methyl-2-oxopentanoic acid
  • (S)-3-methyl-2-oxopentanoate
1460-34-0
4-Hydroxyphenylpyruvic acid
  • (p-hydroxyphenyl)-Pyruvate
  • (p-hydroxyphenyl)-Pyruvic acid
  • (p-Hydroxyphenyl)pyruvate
  • (p-Hydroxyphenyl)pyruvic acid
  • 3-(4-Hydroxyphenyl)-2-oxo-propanoate
156-39-8
Indolepyruvate
  • (indol-3-yl)pyruvic acid
  • indole-3-pyruvic acid
  • Indolepyruvic acid
35656-49-6
Oxalacetic acid
  • 2-Ketosuccinate
  • 2-Ketosuccinic acid
  • 2-Oxobutanedioate
  • 2-Oxobutanedioic acid
  • 2-Oxosuccinate
328-42-7
genes like me logo Genes that share compounds with IL4I1: view

Transcripts for IL4I1 Gene

Unigene Clusters for IL4I1 Gene

Interleukin 4 induced 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IL4I1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12
SP1:
SP2:
SP3: - - -
SP4: - - - - -
SP5: - - - -
SP6: - -
SP7: -
SP8:
SP9:

Relevant External Links for IL4I1 Gene

GeneLoc Exon Structure for
IL4I1
ECgene alternative splicing isoforms for
IL4I1

Expression for IL4I1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IL4I1 Gene

mRNA differential expression in normal tissues according to GTEx for IL4I1 Gene

This gene is overexpressed in Testis (x8.3).

Protein differential expression in normal tissues from HIPED for IL4I1 Gene

This gene is overexpressed in Lung (20.7), Lymph node (13.2), Peripheral blood mononuclear cells (9.9), and Testis (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for IL4I1 Gene



NURSA nuclear receptor signaling pathways regulating expression of IL4I1 Gene:

IL4I1

SOURCE GeneReport for Unigene cluster for IL4I1 Gene:

Hs.741750

mRNA Expression by UniProt/SwissProt for IL4I1 Gene:

Q96RQ9-OXLA_HUMAN
Tissue specificity: Isoform 1 is primarily found in immune tissues.

Evidence on tissue expression from TISSUES for IL4I1 Gene

  • Spleen(4.3)
  • Liver(4)
  • Nervous system(4)
  • Blood(2.3)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with IL4I1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for IL4I1 Gene

Orthologs for IL4I1 Gene

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

Orthologs for IL4I1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IL4I1 33 34
  • 98.51 (n)
dog
(Canis familiaris)
Mammalia IL4I1 33 34
  • 81.79 (n)
mouse
(Mus musculus)
Mammalia Il4i1 33 16 34
  • 79.23 (n)
rat
(Rattus norvegicus)
Mammalia LOC100360621 33
  • 77.97 (n)
cow
(Bos Taurus)
Mammalia IL4I1 34
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IL4I1 34
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IL4I1 34
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves IL4I1 34
  • 37 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 39 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493881 33
  • 49.15 (n)
LOC394934 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.1078 33
zebrafish
(Danio rerio)
Actinopterygii si:dkey-40g16.6 33
  • 49.46 (n)
IL4I1 34
  • 41 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11911 33
bread mold
(Neurospora crassa)
Ascomycetes NCU01066 33
  • 45.52 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2768 33
Species where no ortholog for IL4I1 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)
  • 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)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for IL4I1 Gene

ENSEMBL:
Gene Tree for IL4I1 (if available)
TreeFam:
Gene Tree for IL4I1 (if available)

Paralogs for IL4I1 Gene

No data available for Paralogs for IL4I1 Gene

Variants for IL4I1 Gene

Sequence variations from dbSNP and Humsavar for IL4I1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs121917865 Pathogenic 49,908,636(-) GGACC(A/C)GGAGC intron-variant, reference, missense
rs1062798 Likely benign 49,908,960(-) cacca(C/G)cagca intron-variant, reference, missense
rs1984656 Likely benign 49,909,259(+) GGTGC(C/G/T)GTGGG intron-variant, reference, synonymous-codon
rs892028 Likely benign 49,908,485(-) ATCGA(C/G/T)GCACA intron-variant, reference, synonymous-codon
rs999583 Likely benign 49,909,160(+) CCAGT(A/G)CTGGT intron-variant, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for IL4I1 Gene

Variant ID Type Subtype PubMed ID
nsv9739 CNV gain+loss 18304495
nsv953600 CNV deletion 24416366
nsv7309 OTHER inversion 18451855
nsv579910 CNV gain 21841781
nsv524068 CNV loss 19592680
nsv458720 CNV gain 19166990
nsv2519 CNV deletion 18451855
nsv1140251 OTHER inversion 24896259
nsv1131436 CNV deletion 24896259
nsv1065648 CNV gain 25217958
nsv1058623 CNV gain 25217958
esv996372 CNV deletion 20482838
esv3644630 CNV gain 21293372
esv3644628 CNV gain 21293372
esv3583457 CNV loss 25503493
dgv54n68 CNV loss 17160897
dgv53n68 CNV loss 17160897

Variation tolerance for IL4I1 Gene

Residual Variation Intolerance Score: 45.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.05; 37.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IL4I1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IL4I1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IL4I1 Gene

Disorders for IL4I1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for IL4I1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
posterior myocardial infarction
  • posterior myocardial infarction nos
mitral valve insufficiency
  • congenital insufficiency of mitral valve
tricuspid valve stenosis
  • tricuspid stenosis
aortic valve disease 1
  • aortic valve disease 2
- elite association - COSMIC cancer census association via MalaCards
Search IL4I1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for IL4I1

Genetic Association Database (GAD)
IL4I1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IL4I1
genes like me logo Genes that share disorders with IL4I1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IL4I1 Gene

Publications for IL4I1 Gene

  1. Characterization of the human homolog of the IL-4 induced gene-1 (Fig1). (PMID: 12031486) Chavan SS … Chu CC (Biochimica et biophysica acta 2002) 2 3 4 60
  2. Human IL4I1 is a secreted L-phenylalanine oxidase expressed by mature dendritic cells that inhibits T-lymphocyte proliferation. (PMID: 17356132) Boulland ML … Castellano F (Blood 2007) 3 22 60
  3. Alternative pre-mRNA processing regulates cell-type specific expression of the IL4l1 and NUP62 genes. (PMID: 16029492) Wiemann S … Poustka A (BMC biology 2005) 3 4 60
  4. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 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 IL4I1 Gene

Sources for IL4I1 Gene

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