IL4I1 (interleukin 4 induced 1)

Gene

• Entrez ID: 259307
• Gene name: Interleukin 4 induced 1
• Gene symbol: IL4I1
• Synonyms (NCBI Gene): FIG1, LAAO, LAO, hIL4I1
• Chromosome: 19
• Chromosome location: 19q13.33
• Summary: This gene encodes a secreted L-amino acid oxidase protein which primarily catabolizes L-phenylalanine and, to a lesser extent, L-arginine. The expression of this gene is induced by the cytokine interleukin 4 in B cells. This gene is also expressed in macr

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001669	Component	Acrosomal vesicle	IDA	25767141
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0001716	Function	L-amino-acid oxidase activity	IBA
GO:0001716	Function	L-amino-acid oxidase activity	IDA	17356132, 25767141, 26673964, 32818467, 32866000
GO:0001716	Function	L-amino-acid oxidase activity	IEA
GO:0001772	Component	Immunological synapse	IDA	28891065
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002819	Process	Regulation of adaptive immune response	IDA	17356132
GO:0002841	Process	Negative regulation of T cell mediated immune response to tumor cell	IDA	32818467
GO:0002841	Process	Negative regulation of T cell mediated immune response to tumor cell	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005576	Component	Extracellular region	IDA	17356132, 32818467
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0006559	Process	L-phenylalanine catabolic process	IDA	17356132, 25767141
GO:0006569	Process	L-tryptophan catabolic process	IDA	17356132, 25767141
GO:0006572	Process	L-tyrosine catabolic process	IDA	17356132
GO:0009063	Process	Amino acid catabolic process	IBA
GO:0009072	Process	Aromatic amino acid metabolic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0019440	Process	L-tryptophan catabolic process to indole-3-acetate	IDA	32818467, 32866000
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042130	Process	Negative regulation of T cell proliferation	IMP	17356132
GO:0045577	Process	Regulation of B cell differentiation	ISS
GO:0045591	Process	Positive regulation of regulatory T cell differentiation	IDA	25778793
GO:0045591	Process	Positive regulation of regulatory T cell differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	32818467
GO:0050868	Process	Negative regulation of T cell activation	IDA	28891065
GO:0097225	Component	Sperm midpiece	IDA	25767141
GO:0106329	Function	L-phenylalaine oxidase activity	IEA

Other IDs

• MIM: 609742
• HGNC: 19094
• e!Ensembl: ENSG00000104951

Protein

• UniProt ID: Q96RQ9
• Protein name: L-amino-acid oxidase (LAAO) (LAO) (EC 1.4.3.2) (EC 1.4.3.25) (Interleukin-4-induced protein 1) (IL4-induced protein 1) (hIL4I1) (Protein Fig-1) (hFIG1)
• Protein function: Secreted L-amino-acid oxidase that acts as a key immunoregulator (PubMed:17356132, PubMed:32818467, PubMed:32866000). Has preference for L-aromatic amino acids: converts phenylalanine (Phe), tyrosine (Tyr) and tryptophan (Trp) to phenylpyruvic a
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01593	Amino_oxidase	69 → 505	Flavin containing amine oxidoreductase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Primarily found in immune tissues, with the highest expression in lymph nodes and spleen (PubMed:12031486, PubMed:12446450). Present in germinal center macrophages and inflammatory myeloid cells and antigen-presenting cells (at protein
• Sequence:

  MAPLALHLLVLVPILLSLVASQDWKAERSQDPFEKCMQDPDYEQLLKVVTWGLNRTLKPQ
  RVIVVGAGVAGLVAAKVLSDAGHKVTILEADNRIGGRIFTYRDQNTGWIGELGAMRMPSS
  HRILHKLCQGLGLNLTKFTQYDKNTWTEVHEVKLRNYVVEKVPEKLGYALRPQEKGHSPE
  DIYQMALNQALKDLKALGCRKAMKKFERHTLLEYLLGEGNLSRPAVQLLGDVMSEDGFFY
  LSFAEALRAHSCLSDRLQYSRIVGGWDLLPRALLSSLSGLVLLNAPVVAMTQGPHDVHVQ
  IETSPPARNLKVLKADVVLLTASGPAVKRITFSPPLPRHMQEALRRLHYVPATKVFLSFR
  RPFWREEHIEGGHSNTDRPSRMIFYPPPREGALLLASYTWSDAAAAFAGLSREEALRLAL
  DDVAALHGPVVRQLWDGTGVVKRWAEDQHSQGGFVVQPPALWQTEKDDWTVPYGRIYFAG
  EHTAYPHGWVETAVKSALRAAIKINSRKGPASDTASPEGHASDMEGQGHVHGVASSPSHD
  LAKEEGSHPPVQGQLSLQNTTHTRTSH

• Sequence length: 567

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	29702182		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	31163010		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	17482423	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	12446450, 21469114		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	12446450		★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	19436310	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35952516	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32737333	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37395022	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	31163010		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29890640, 29908095		★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	31445943		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	38062922	Associate	★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	37148546	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	38250074	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	19436310	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	34948292	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28803055, 30654040		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	28803055		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37434155	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	19436310	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26673964, 28205610, 29206151		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29890640, 29908095		★☆☆☆☆ Found in Text Mining only
Mediastinal (Thymic) Large B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	12446450		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21469114, 28405502, 30048651, 31679193		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	30048651	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	36466837	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	19436310	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	21469114		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	31679193		★☆☆☆☆ Found in Text Mining only
Microcytic hypochromic anemia (disorder)	Anemia	BEFREE	31511163		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	40083932	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21469114, 28405502, 28891065, 30048651, 31330829		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34717685, 38062922	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17482423		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	20683900		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	20683900	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	40332319	Associate	★☆☆☆☆ Found in Text Mining only
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)	Striatonigral Degeneration	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	37434155	Stimulate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34134578	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	29668367		★☆☆☆☆ Found in Text Mining only