IL4I1 interleukin 4 induced 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IL4I1provided by HGNC
Official Full Name: interleukin 4 induced 1provided by HGNC
Primary source: HGNC:HGNC:19094
See related: Ensembl:ENSG00000104951 MIM:609742; AllianceGenome:HGNC:19094
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LAO; FIG1; LAAO; hIL4I1
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 macrophages and dendritic cells. This protein may play a role immune system escape as it is expressed in tumor-associated macrophages and suppresses T-cell responses. This protein also contains domains thought to be involved in the binding of flavin adenine dinucleotide (FAD) cofactor. Multiple transcript variants encoding different isoforms have been found for this gene. Some transcripts of this gene share a promoter and exons of the 5' UTR with the overlapping NUP62 gene. [provided by RefSeq, Jul 2020]
Expression: Broad expression in testis (RPKM 12.4), liver (RPKM 8.9) and 22 other tissues See more
Orthologs: all
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Genomic context

Location:: 19q13.33

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (49889654..49929504, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (52889790..52929639, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (50392911..50432761, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

IL4I1 in M2-like macrophage promotes glioma progression and is a promising target for immunotherapy.
Title: IL4I1 in M2-like macrophage promotes glioma progression and is a promising target for immunotherapy.
Knockdown of IL4I1 Improved High Glucose-evoked Insulin Resistance in HepG2 Cells by Alleviating Inflammation and Lipotoxicity Through AHR Activation.
Title: Knockdown of IL4I1 Improved High Glucose-evoked Insulin Resistance in HepG2 Cells by Alleviating Inflammation and Lipotoxicity Through AHR Activation.
IL4i1 and IDO1: Oxidases that control a tryptophan metabolic nexus in cancer.
Title: IL4i1 and IDO1: Oxidases that control a tryptophan metabolic nexus in cancer.
Human Chorionic Gonadotropin-Stimulated Interleukin-4-Induced-1 (IL4I1) Promotes Human Decidualization via Aryl Hydrocarbon Receptor.
Title: Human Chorionic Gonadotropin-Stimulated Interleukin-4-Induced-1 (IL4I1) Promotes Human Decidualization via Aryl Hydrocarbon Receptor.
IL4I1 enhances PD-L1 expression through JAK/STAT signaling pathway in lung adenocarcinoma.
Title: IL4I1 enhances PD-L1 expression through JAK/STAT signaling pathway in lung adenocarcinoma.
IL4I1 binds to TMPRSS13 and competes with SARS-CoV-2 spike.
Title: IL4I1 binds to TMPRSS13 and competes with SARS-CoV-2 spike.
Pan-cancer analysis combined with experimental validation revealed IL4I1 as an immunological and prognostic biomarker.
Title: Pan-cancer analysis combined with experimental validation revealed IL4I1 as an immunological and prognostic biomarker.
IL4I1-driven AHR signature: a new avenue for cancer therapy.
Title: IL4I1-driven AHR signature: a new avenue for cancer therapy.
Single-cell analysis revealed that IL4I1 promoted ovarian cancer progression.
Title: Single-cell analysis revealed that IL4I1 promoted ovarian cancer progression.
Integrated analysis reveals the participation of IL4I1, ITGB7, and FUT7 in reshaping the TNBC immune microenvironment by targeting glycolysis.
Title: Integrated analysis reveals the participation of IL4I1, ITGB7, and FUT7 in reshaping the TNBC immune microenvironment by targeting glycolysis.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79668 (e-PCR)
- UniSTS:87049

RH71288 (e-PCR)
- UniSTS:43575

NUP62 (e-PCR), detects polymorphism
- UniSTS:504466

D19S998 (e-PCR)
- UniSTS:1233

PMC150528P1 (e-PCR)
- UniSTS:271061

PMC150528P2 (e-PCR)
- UniSTS:271062

RH46521 (e-PCR)
- UniSTS:14300

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-amino-acid oxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-amino-acid oxidase activity	IDA Inferred from Direct Assay more info	PubMed
enables L-phenylalaine oxidase activity	IEA Inferred from Electronic Annotation more info
enables polyamine oxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in L-phenylalanine catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in amino acid catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of T cell activation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of T cell mediated immune response to tumor cell	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of regulatory T cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of B cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of adaptive immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in tryptophan catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in tryptophan catabolic process to indole-3-acetate	IDA Inferred from Direct Assay more info	PubMed
involved_in tyrosine catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in acrosomal vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in immunological synapse	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IEA Inferred from Electronic Annotation more info
located_in sperm midpiece	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: L-amino-acid oxidase

Names: Fig-1 protein; IL4-induced protein 1; interleukin four induced 1

NP_001244946.1

EC 1.4.3.2

EC 1.4.3.25

NP_001244947.1

EC 1.4.3.2

EC 1.4.3.25

NP_001372568.1

EC 1.4.3.2

EC 1.4.3.25

NP_690863.1

EC 1.4.3.2

EC 1.4.3.25

NP_758962.1

EC 1.4.3.2

EC 1.4.3.25

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_021170.1 RefSeqGene

Range

37619..44852

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001258017.2 → NP_001244946.1 L-amino-acid oxidase isoform 2 precursor

See identical proteins and their annotated locations for NP_001244946.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 2. The first two exons of its 5' UTR are shared with an upstream gene. Variants 2, 3 and 4 encode the same protein (isoform 2).

Source sequence(s)

AC118342, DQ079589

Consensus CDS

CCDS12786.1

UniProtKB/TrEMBL

A2RRH1

Conserved Domains (2) summary

pfam01593
Location:91 → 523

Amino_oxidase; Flavin containing amine oxidoreductase

pfam13450
Location:86 → 143

NAD_binding_8; NAD(P)-binding Rossmann-like domain
NM_001258018.2 → NP_001244947.1 L-amino-acid oxidase isoform 2 precursor

See identical proteins and their annotated locations for NP_001244947.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 2. The first two exons of its 5' UTR are shared with an upstream gene. Variants 2, 3 and 4 encode the same protein (isoform 2).

Source sequence(s)

AC118342, DQ079588

Consensus CDS

CCDS12786.1

UniProtKB/TrEMBL

A2RRH1

Related

ENSP00000472474.1, ENST00000595948.5

Conserved Domains (2) summary

pfam01593
Location:91 → 523

Amino_oxidase; Flavin containing amine oxidoreductase

pfam13450
Location:86 → 143

NAD_binding_8; NAD(P)-binding Rossmann-like domain
NM_001385639.1 → NP_001372568.1 L-amino-acid oxidase isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and coding region, compared to variant 2, and is expressed from a different promoter. The resulting isoform (3) contains a distinct and shorter N-terminus, as compared to isoform 2.

Source sequence(s)

AC118342

UniProtKB/TrEMBL

A2RRH1

Conserved Domains (1) summary

pfam01593
Location:46 → 464

Amino_oxidase; Flavin containing amine oxidoreductase
NM_152899.2 → NP_690863.1 L-amino-acid oxidase isoform 1 precursor

See identical proteins and their annotated locations for NP_690863.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 5' UTR and coding region, compared to variant 2, and is expressed from a different promoter. The resulting isoform (1) contains a distinct and shorter N-terminus, as compared to isoform 2.

Source sequence(s)

AF293462

Consensus CDS

CCDS12787.1

UniProtKB/Swiss-Prot

Q1WMJ3, Q4GZN1, Q4GZN2, Q6P2Q3, Q8TEM5, Q96RQ8, Q96RQ9

UniProtKB/TrEMBL

A2RRH1

Related

ENSP00000375702.1, ENST00000391826.7

Conserved Domains (1) summary

pfam01593
Location:69 → 501

Amino_oxidase; Flavin containing amine oxidoreductase
NM_172374.3 → NP_758962.1 L-amino-acid oxidase isoform 2 precursor

See identical proteins and their annotated locations for NP_758962.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) encodes the longest isoform (2). The first two exons of its 5' UTR are shared with an upstream gene. Variants 2, 3 and 4 encode the same protein (isoform 2).

Source sequence(s)

AC118342, DQ079587

Consensus CDS

CCDS12786.1

UniProtKB/TrEMBL

A2RRH1

Related

ENSP00000342557.2, ENST00000341114.7

Conserved Domains (2) summary

pfam01593
Location:91 → 523

Amino_oxidase; Flavin containing amine oxidoreductase

pfam13450
Location:86 → 143

NAD_binding_8; NAD(P)-binding Rossmann-like domain

RNA

NR_047577.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) contains an alternate exon, compared to variant 2. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC011452, AC118342, AJ880389

Related

ENST00000601717.5