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Protein

Iroquois-class homeodomain protein IRX-5

Gene

IRX5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Establishes the cardiac repolarization gradient by its repressive actions on the KCND2 potassium-channel gene. Required for retinal cone bipolar cell differentiation. May regulate contrast adaptation in the retina and control specific aspects of visual function in circuits of the mammalian retina (By similarity). Could be involved in the regulation of both the cell cycle and apoptosis in prostate cancer cells. Involved in craniofacial and gonadal development. Modulates the migration of progenitor cell populations in branchial arches and gonads by repressing CXCL12.By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi113 – 175Homeobox; TALE-typePROSITE-ProRule annotationAdd BLAST63

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processSensory transduction, Transcription, Vision
LigandVitamin D

Names & Taxonomyi

Protein namesi
Recommended name:
Iroquois-class homeodomain protein IRX-5
Alternative name(s):
Homeodomain protein IRX-2A
Homeodomain protein IRXB2
Iroquois homeobox protein 5
Gene namesi
Name:IRX5
Synonyms:IRX2A, IRXB2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000176842.14
HGNCiHGNC:14361 IRX5
MIMi606195 gene
neXtProtiNX_P78411

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Hamamy syndrome (HMMS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by severe hypertelorism, upslanting palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Additional features include myopia, mild to moderate sensorineural hearing loss, gonadal anomalies and borderline intelligence.
See also OMIM:611174
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068483150A → P in HMMS; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs387907198EnsemblClinVar.1
Natural variantiVAR_068484166N → K in HMMS; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs786200931EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi10265
MalaCardsiIRX5
MIMi611174 phenotype
OpenTargetsiENSG00000176842
Orphaneti314555 Craniofacial dysplasia-osteopenia syndrome
PharmGKBiPA29928

Polymorphism and mutation databases

BioMutaiIRX5
DMDMi143811406

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000491601 – 483Iroquois-class homeodomain protein IRX-5Add BLAST483

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei274PhosphoserineCombined sources1
Modified residuei464PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP78411
MaxQBiP78411
PaxDbiP78411
PeptideAtlasiP78411
PRIDEiP78411
ProteomicsDBi57616

PTM databases

iPTMnetiP78411
PhosphoSitePlusiP78411

Expressioni

Inductioni

Down-regulated by 1,25-dihydroxyvitamin D3 in prostate cancer samples from patients assigned to receive weekly high-dose 1,25-dihydroxyvitamin D3 before radical prostatectomy. Also down-regulated by 1,25-dihydroxyvitamin D3 in the human androgen-sensitive prostate cancer cell line LNCaP and in the estrogen-sensitive breast cancer cell line MCF-7.

Gene expression databases

BgeeiENSG00000176842 Expressed in 110 organ(s), highest expression level in heart left ventricle
CleanExiHS_IRX5
ExpressionAtlasiP78411 baseline and differential
GenevisibleiP78411 HS

Organism-specific databases

HPAiHPA047130

Interactioni

Protein-protein interaction databases

IntActiP78411, 2 interactors
STRINGi9606.ENSP00000378132

Structurei

3D structure databases

ProteinModelPortaliP78411
SMRiP78411
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi72 – 78Poly-Ala7
Compositional biasi186 – 192Poly-Glu7
Compositional biasi320 – 326Poly-Pro7
Compositional biasi350 – 353Poly-Gly4

Sequence similaritiesi

Belongs to the TALE/IRO homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0773 Eukaryota
ENOG410XPMQ LUCA
GeneTreeiENSGT00750000117365
HOGENOMiHOG000234546
HOVERGENiHBG006180
InParanoidiP78411
OMAiFGHLHSN
OrthoDBiEOG091G15AO
PhylomeDBiP78411
TreeFamiTF319371

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR008422 Homeobox_KN_domain
IPR003893 Iroquois_homeo
PfamiView protein in Pfam
PF05920 Homeobox_KN, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SM00548 IRO, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P78411-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSYPQGYLYQ PSASLALYSC PAYSTSVISG PRTDELGRSS SGSAFSPYAG
60 70 80 90 100
STAFTAPSPG YNSHLQYGAD PAAAAAAAFS SYVGSPYDHT PGMAGSLGYH
110 120 130 140 150
PYAAPLGSYP YGDPAYRKNA TRDATATLKA WLNEHRKNPY PTKGEKIMLA
160 170 180 190 200
IITKMTLTQV STWFANARRR LKKENKMTWT PRNRSEDEEE EENIDLEKND
210 220 230 240 250
EDEPQKPEDK GDPEGPEAGG AEQKAASGCE RLQGPPTPAG KETEGSLSDS
260 270 280 290 300
DFKEPPSEGR LDALQGPPRT GGPSPAGPAA ARLAEDPAPH YPAGAPAPGP
310 320 330 340 350
HPAAGEVPPG PGGPSVIHSP PPPPPPAVLA KPKLWSLAEI ATSSDKVKDG
360 370 380 390 400
GGGNEGSPCP PCPGPIAGQA LGGSRASPAP APSRSPSAQC PFPGGTVLSR
410 420 430 440 450
PLYYTAPFYP GYTNYGSFGH LHGHPGPGPG PTTGPGSHFN GLNQTVLNRA
460 470 480
DALAKDPKML RSQSQLDLCK DSPYELKKGM SDI
Length:483
Mass (Da):50,361
Last modified:April 3, 2007 - v3
Checksum:i12E9397924EB5E6E
GO
Isoform 2 (identifier: P78411-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     219-219: Missing.

Show »
Length:482
Mass (Da):50,304
Checksum:iDCE0C504C7867851
GO
Isoform 3 (identifier: P78411-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-83: MSYPQGYLYQ...AAAAAFSSYV → MAVETTVHTHLSASPPQ

Show »
Length:417
Mass (Da):43,693
Checksum:i401F3BEA82CAE259
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YML8H0YML8_HUMAN
Iroquois-class homeodomain protein ...
IRX5
263Annotation score:
A2RRB5A2RRB5_HUMAN
IRX5 protein
IRX5
146Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti211G → A in AAB50007 (PubMed:10370142).Curated1
Sequence conflicti343S → L in AAB50002 (PubMed:10370142).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068483150A → P in HMMS; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs387907198EnsemblClinVar.1
Natural variantiVAR_068484166N → K in HMMS; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs786200931EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0473631 – 83MSYPQ…FSSYV → MAVETTVHTHLSASPPQ in isoform 3. 1 PublicationAdd BLAST83
Alternative sequenceiVSP_047364219Missing in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY335944 Genomic DNA Translation: AAQ16550.1
AY335945 mRNA Translation: AAQ16551.1
U90304 mRNA Translation: AAB50002.1
U90309 mRNA Translation: AAB50007.1
AC106738 Genomic DNA No translation available.
CCDSiCCDS10751.1 [P78411-1]
CCDS58462.1 [P78411-2]
RefSeqiNP_001239126.1, NM_001252197.1 [P78411-2]
NP_005844.4, NM_005853.5 [P78411-1]
UniGeneiHs.435730

Genome annotation databases

EnsembliENST00000320990; ENSP00000316250; ENSG00000176842 [P78411-2]
ENST00000394636; ENSP00000378132; ENSG00000176842 [P78411-1]
GeneIDi10265
KEGGihsa:10265
UCSCiuc002ehv.4 human [P78411-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY335944 Genomic DNA Translation: AAQ16550.1
AY335945 mRNA Translation: AAQ16551.1
U90304 mRNA Translation: AAB50002.1
U90309 mRNA Translation: AAB50007.1
AC106738 Genomic DNA No translation available.
CCDSiCCDS10751.1 [P78411-1]
CCDS58462.1 [P78411-2]
RefSeqiNP_001239126.1, NM_001252197.1 [P78411-2]
NP_005844.4, NM_005853.5 [P78411-1]
UniGeneiHs.435730

3D structure databases

ProteinModelPortaliP78411
SMRiP78411
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiP78411, 2 interactors
STRINGi9606.ENSP00000378132

PTM databases

iPTMnetiP78411
PhosphoSitePlusiP78411

Polymorphism and mutation databases

BioMutaiIRX5
DMDMi143811406

Proteomic databases

EPDiP78411
MaxQBiP78411
PaxDbiP78411
PeptideAtlasiP78411
PRIDEiP78411
ProteomicsDBi57616

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320990; ENSP00000316250; ENSG00000176842 [P78411-2]
ENST00000394636; ENSP00000378132; ENSG00000176842 [P78411-1]
GeneIDi10265
KEGGihsa:10265
UCSCiuc002ehv.4 human [P78411-1]

Organism-specific databases

CTDi10265
DisGeNETi10265
EuPathDBiHostDB:ENSG00000176842.14
GeneCardsiIRX5
H-InvDBiHIX0038585
HGNCiHGNC:14361 IRX5
HPAiHPA047130
MalaCardsiIRX5
MIMi606195 gene
611174 phenotype
neXtProtiNX_P78411
OpenTargetsiENSG00000176842
Orphaneti314555 Craniofacial dysplasia-osteopenia syndrome
PharmGKBiPA29928
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0773 Eukaryota
ENOG410XPMQ LUCA
GeneTreeiENSGT00750000117365
HOGENOMiHOG000234546
HOVERGENiHBG006180
InParanoidiP78411
OMAiFGHLHSN
OrthoDBiEOG091G15AO
PhylomeDBiP78411
TreeFamiTF319371

Miscellaneous databases

GeneWikiiIRX5
GenomeRNAii10265
PROiPR:P78411
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000176842 Expressed in 110 organ(s), highest expression level in heart left ventricle
CleanExiHS_IRX5
ExpressionAtlasiP78411 baseline and differential
GenevisibleiP78411 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR008422 Homeobox_KN_domain
IPR003893 Iroquois_homeo
PfamiView protein in Pfam
PF05920 Homeobox_KN, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SM00548 IRO, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiIRX5_HUMAN
AccessioniPrimary (citable) accession number: P78411
Secondary accession number(s): H0YMS7, P78416, Q7Z2E1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: April 3, 2007
Last modified: November 7, 2018
This is version 149 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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