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IRX3 iroquois homeobox 3 [ Homo sapiens (human) ]

Gene ID: 79191, updated on 9-Dec-2018

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
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

Genomic context

See IRX3 in Genome Data Viewer
Location:
16q12.2
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (54283300..54286772, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (54317212..54320724, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene FTO, alpha-ketoglutarate dependent dioxygenase Neighboring gene VISTA enhancer hs52 Neighboring gene long intergenic non-protein coding RNA 2169 Neighboring gene VISTA enhancer hs51 Neighboring gene uncharacterized LOC105371272 Neighboring gene long intergenic non-protein coding RNA 2140

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
NHGRI GWA Catalog

Pathways from BioSystems

  • FTO Obesity Variant Mechanism, organism-specific biosystem (from WikiPathways)
    FTO Obesity Variant Mechanism, organism-specific biosystemMechanism underlying the association of FTO locus variants and obesity. The wild type T allele at rs1421085 in the FTO locus comprises a protein-DNA binding motif for ARID5B that represses the transc...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ99187

Gene Ontology Provided by GOA

Process Evidence Code Pubs
energy homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
mesoderm development IEA
Inferred from Electronic Annotation
more info
 
metanephros development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
specification of loop of Henle identity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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)

  1. NM_024336.3NP_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
    Related
    ENSP00000331608.3, ENST00000329734.3
    Conserved Domains (2) summary
    smart00548
    Location:344359
    IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function
    pfam05920
    Location:145184
    Homeobox_KN; Homeobox KN domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    54283300..54286772 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (2) summary
    smart00548
    Location:344359
    IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function
    pfam05920
    Location:145184
    Homeobox_KN; Homeobox KN domain
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