IRX1 (iroquois homeobox 1)

Gene

• Entrez ID: 79192
• Gene name: Iroquois homeobox 1
• Gene symbol: IRX1
• Synonyms (NCBI Gene): IRX-5, IRXA1
• Chromosome: 5
• Chromosome location: 5p15.33
• Summary: This gene encodes a member of the Iroquois homeobox protein family. Homeobox genes in this family are involved in pattern formation in the embryo. The gene product has been identified as a tumor suppressor in gastric (PMID: 21602894, 20440264) and head an

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1072254	hsa-miR-3153	CLIP-seq
MIRT1072255	hsa-miR-4311	CLIP-seq
MIRT1072256	hsa-miR-4731-3p	CLIP-seq
MIRT1072257	hsa-miR-4801	CLIP-seq
MIRT1072258	hsa-miR-625	CLIP-seq
MIRT1072255	hsa-miR-4311	CLIP-seq
MIRT1072256	hsa-miR-4731-3p	CLIP-seq
MIRT1072257	hsa-miR-4801	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	20440264
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	20440264
GO:0001656	Process	Metanephros development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0043565	Function	Sequence-specific DNA binding	IDA	28473536
GO:0048468	Process	Cell development	IBA
GO:0072086	Process	Specification of loop of Henle identity	IEA
GO:0072272	Process	Proximal/distal pattern formation involved in metanephric nephron development	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 606197
• HGNC: 14358
• e!Ensembl: ENSG00000170549

Protein

• UniProt ID: P78414
• Protein name: Iroquois-class homeodomain protein IRX-1 (Homeodomain protein IRXA1) (Iroquois homeobox protein 1)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05920	Homeobox_KN	145 → 184	Homeobox KN domain	Family

• Sequence:

  MSFPQLGYPQYLSAAGPGAYGGERPGVLAAAAAAAAAASSGRPGAAELGGGAGAAAVTSV
  LGMYAAAGPYAGAPNYSAFLPYAADLSLFSQMGSQYELKDNPGVHPATFAAHTAPAYYPY
  GQFQYGDPGRPKNATRESTSTLKAWLNEHRKNPYPTKGEKIMLAIITKMTLTQVSTWFAN
  ARRRLKKENKVTWGARSKDQEDGALFGSDTEGDPEKAEDDEEIDLESIDIDKIDEHDGDQ
  SNEDDEDKAEAPHAPAAPSALARDQGSPLAAADVLKPQDSPLGLAKEAPEPGSTRLLSPG
  AAAGGLQGAPHGKPKIWSLAETATSPDGAPKASPPPPAGHPGAHGPSAGAPLQHPAFLPS
  HGLYTCHIGKFSNWTNSAFLAQGSLLNMRSFLGVGAPHAAPHGPHLPAPPPPQPPVAIAP
  GALNGDKASVRSSPTLPERDLVPRPDSPAQQLKSPFQPVRDNSLAPQEGTPRILAALPSA
  

• Sequence length: 480

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRX1-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL VASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RAYNAUD DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	30862593		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	26815016	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23456299, 26815016	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	33667646	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28358424		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	23456299		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	38513239	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29328446		★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	32908802	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	27175594	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33219204, 35328612	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	CTD_human_DG	21238641		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	33859751	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy retinal 1 North Carolina type	Macular dystrophy	Pubtator	28790370	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21602894, 22934698, 25982683, 29802960		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	33219204	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18559491, 20029986, 20440264, 22934698, 25822025, 26929985, 29802960, 31450023		★☆☆☆☆ Found in Text Mining only
North Carolina macular dystrophy	North Carolina Macular Dystrophy	BEFREE	26507665, 28790370		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	23456299	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25822025		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34101221	Associate	★☆☆☆☆ Found in Text Mining only
Raynaud Disease	Raynaud disease	Pubtator	37828025	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	22419069	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	23456299, 26815016		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	16306258		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	16306258	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18559491		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24337411, 24519855	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	30246311		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	18559491, 24337411		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	24519855		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20440264, 21602894, 22934698, 25982683, 29802960		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25982683	Associate	★☆☆☆☆ Found in Text Mining only