IRX3 iroquois homeobox 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IRX3provided by HGNC
Official Full Name: iroquois homeobox 3provided by HGNC
Primary source: HGNC:HGNC:14360
See related: Ensembl:ENSG00000177508 MIM:612985; AllianceGenome:HGNC:14360
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IRX-1; IRXB1
Summary: IRX3 is a member of the Iroquois homeobox gene family (see IRX1; MIM 606197) and plays a role in an early step of neural development (Bellefroid et al., 1998 [PubMed 9427753]). Members of this family appear to play multiple roles during pattern formation of vertebrate embryos (Lewis et al., 1999 [PubMed 10370142]).[supplied by OMIM, Aug 2009]
Expression: Biased expression in lung (RPKM 13.1), skin (RPKM 8.6) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q12.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (54283304..54286787, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (60081297..60084780, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (54317216..54320699, complement)

Chromosome 16 - NC_000016.10 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?

Interaction analysis of FTO and IRX3 genes with obesity and related metabolic disorders in an admixed Latin American population: a possible risk increases of body weight excess.
Title: Interaction analysis of FTO and IRX3 genes with obesity and related metabolic disorders in an admixed Latin American population: a possible risk increases of body weight excess.
IRX3 plays an important role in the pathogenesis of metabolic-associated fatty liver disease by regulating hepatic lipid metabolism.
Title: IRX3 plays an important role in the pathogenesis of metabolic-associated fatty liver disease by regulating hepatic lipid metabolism.
The Hematopoietic TALE-Code Shows Normal Activity of IRX1 in Myeloid Progenitors and Reveals Ectopic Expression of IRX3 and IRX5 in Acute Myeloid Leukemia.
Title: The Hematopoietic TALE-Code Shows Normal Activity of IRX1 in Myeloid Progenitors and Reveals Ectopic Expression of IRX3 and IRX5 in Acute Myeloid Leukemia.
IRX3 Overexpression Enhances Ucp1 Expression In Vivo.
Title: IRX3 Overexpression Enhances Ucp1 Expression In Vivo.
Clinical utility of irx3 in keratoconus.
Title: Clinical utility of irx3 in keratoconus.
Identification of Novel Genetic Variants Related to Trabecular Bone Score in Community-Dwelling Older Adults.
Title: Identification of Novel Genetic Variants Related to Trabecular Bone Score in Community-Dwelling Older Adults.
Hypothalamic IRX3: A New Player in the Development of Obesity.
Title: Hypothalamic IRX3: A New Player in the Development of Obesity.
Extensive pleiotropism and allelic heterogeneity mediate metabolic effects of IRX3 and IRX5.
Title: Extensive pleiotropism and allelic heterogeneity mediate metabolic effects of IRX3 and IRX5.
Primary preadipocytes from carriers of the obesity risk allele rs1421085, in which expression of IRX3 and IRX5 is increased, displayed excessive accumulation of triglycerides, reduced mitochondrial oxidative capacity, reduced white adipocyte browning, and reduced thermogenesis relative to primary preadipocytes from nonrisk allele carriers.
Title: FTO Obesity Variant Circuitry and Adipocyte Browning in Humans.
Genome editing in primary preadipocytes to create the obesity risk allele of rs1421085 caused increased expression of IRX3 and IRX5 during early adipocyte differentiation by disrupting a binding site for the ARID5B repressor.
Title: FTO Obesity Variant Circuitry and Adipocyte Browning in Humans.

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

EBI GWAS Catalog

Description
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

Irx3 (e-PCR), detects polymorphism
- UniSTS:498475

Irx3 (e-PCR), detects polymorphism
- UniSTS:532300

SHGC-61146 (e-PCR)
- UniSTS:59616

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in His-Purkinje system cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in Purkinje myocyte development	ISS Inferred from Sequence or Structural Similarity more info
involved_in atrioventricular bundle cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell development	IBA Inferred from Biological aspect of Ancestor more info
involved_in energy homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in mesoderm development	IEA Inferred from Electronic Annotation more info
involved_in metanephros development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of gap junction assembly	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of regulation of cell communication by electrical coupling involved in cardiac conduction	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in specification of loop of Henle identity	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: iroquois-class homeodomain protein IRX-3

Names: homeodomain protein IRXB1; iroquois homeobox protein 3; iroquois-class homeodomain protein IRX-1

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.

mRNA and Protein(s)

NM_024336.3 → NP_077312.2 iroquois-class homeodomain protein IRX-3

See identical proteins and their annotated locations for NP_077312.2

Status: VALIDATED

Source sequence(s)

AC018553, AY335943, BC023667

Consensus CDS

CCDS10750.1

UniProtKB/Swiss-Prot

P78415, Q7Z4A4, Q7Z4A5, Q8IVC6

Related

ENSP00000331608.3, ENST00000329734.4

Conserved Domains (2) summary

smart00548
Location:344 → 359

IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function

pfam05920
Location:145 → 184

Homeobox_KN; Homeobox KN domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

54283304..54286787 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005256139.4 → XP_005256196.1 iroquois-class homeodomain protein IRX-3 isoform X1

Conserved Domains (2) summary

smart00548
Location:344 → 359

IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function

pfam05920
Location:145 → 184

Homeobox_KN; Homeobox KN domain