IRX5

Protein identityUniProt · HPA

UniProt accession

P78411

Gene

IRX5

Ensembl

ENSG00000176842

Chromosome

16

Canonical length

483 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nuclear speckles,Microtubules,Cytosol

OverviewNCBI Gene

This gene encodes a member of the iroquois homeobox gene family, which are involved in several embryonic developmental processes. Knockout mice lacking this gene show that it is required for retinal cone bipolar cell differentiation, and that it negatively regulates potassium channel gene expression in the heart to ensure coordinated cardiac repolarization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

Canonical amino-acid sequenceUniProt

483 residues, UniProt reviewed canonical sequence.

>P78411|IRX5
     1  MSYPQGYLYQ PSASLALYSC PAYSTSVISG PRTDELGRSS SGSAFSPYAG STAFTAPSPG
    61  YNSHLQYGAD PAAAAAAAFS SYVGSPYDHT PGMAGSLGYH PYAAPLGSYP YGDPAYRKNA
   121  TRDATATLKA WLNEHRKNPY PTKGEKIMLA IITKMTLTQV STWFANARRR LKKENKMTWT
   181  PRNRSEDEEE EENIDLEKND EDEPQKPEDK GDPEGPEAGG AEQKAASGCE RLQGPPTPAG
   241  KETEGSLSDS DFKEPPSEGR LDALQGPPRT GGPSPAGPAA ARLAEDPAPH YPAGAPAPGP
   301  HPAAGEVPPG PGGPSVIHSP PPPPPPAVLA KPKLWSLAEI ATSSDKVKDG GGGNEGSPCP
   361  PCPGPIAGQA LGGSRASPAP APSRSPSAQC PFPGGTVLSR PLYYTAPFYP GYTNYGSFGH
   421  LHGHPGPGPG PTTGPGSHFN GLNQTVLNRA DALAKDPKML RSQSQLDLCK DSPYELKKGM
   481  SDI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against IRX5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.69

Highest tissue expression

16 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about IRX5.

Disease | AllUniProt

Conditions IRX5 is implicated in, by any mechanism.

• Hamamy syndrome (HMMS) MIM:611174

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 143 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Craniofacial dysplasia - osteopenia syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.3

gnomAD pLI

0.97

gnomAD missense Z

0.83

DepMap mean gene effect

0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell development
• embryonic cranial skeleton morphogenesis
• gonad development
• neuron differentiation
• neuron maturation
• regulation of heart rate
• regulation of transcription by RNA polymerase II
• retinal bipolar neuron differentiation
• visual perception

Molecular functions

• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription factor binding
• identical protein binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding
• vitamin D binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• Iroquois-class homeodomain protein
• KN homeodomain
• Homedomain-like superfamily
• Homeobox, conserved site
• Homeobox KN domain

KeywordsUniProt

• DNA-binding
• Homeobox
• Intellectual disability
• Nucleus
• Phosphoprotein
• Sensory transduction
• Transcription
• Vision
• Vitamin D