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Protein

Iroquois-class homeodomain protein IRX-4

Gene

IRX4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Likely to be an important mediator of ventricular differentiation during cardiac development.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi143 – 20462Homeobox; TALE-typePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

  • establishment of organ orientation Source: Ensembl
  • heart development Source: ProtInc
  • regulation of transcription, DNA-templated Source: InterPro
Complete GO annotation...

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Iroquois-class homeodomain protein IRX-4
Alternative name(s):
Homeodomain protein IRXA3
Iroquois homeobox protein 4
Gene namesi
Name:IRX4
Synonyms:IRXA3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:6129. IRX4.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA29927.

Polymorphism and mutation databases

BioMutaiIRX4.
DMDMi12644347.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 519519Iroquois-class homeodomain protein IRX-4PRO_0000049157Add
BLAST

Proteomic databases

MaxQBiP78413.
PaxDbiP78413.
PRIDEiP78413.

PTM databases

PhosphoSiteiP78413.

Expressioni

Tissue specificityi

Predominantly expressed in cardiac ventricles.

Gene expression databases

BgeeiP78413.
CleanExiHS_IRX4.
ExpressionAtlasiP78413. baseline and differential.
GenevisibleiP78413. HS.

Interactioni

Subunit structurei

Interacts with the vitamin D receptor VDR but doesn't affect its transactivation activity.1 Publication

Protein-protein interaction databases

BioGridi119125. 2 interactions.
STRINGi9606.ENSP00000231357.

Structurei

3D structure databases

ProteinModelPortaliP78413.
SMRiP78413. Positions 151-200.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi223 – 2286Poly-Glu
Compositional biasi375 – 3828Poly-Ala

Sequence similaritiesi

Belongs to the TALE/IRO homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG310996.
GeneTreeiENSGT00750000117365.
HOGENOMiHOG000234546.
HOVERGENiHBG006180.
InParanoidiP78413.
OMAiTTLRNWV.
OrthoDBiEOG7J1802.
PhylomeDBiP78413.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR008422. Homeobox_KN_domain.
IPR009057. Homeodomain-like.
IPR003893. Iroquois_homeo.
[Graphical view]
PfamiPF05920. Homeobox_KN. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
SM00548. IRO. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P78413-1) [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
MSYPQFGYPY SSAPQFLMAT NSLSTCCESG GRTLADSGPA ASAQAPVYCP
60 70 80 90 100
VYESRLLATA RHELNSAAAL GVYGGPYGGS QGYGNYVTYG SEASAFYSLN
110 120 130 140 150
SFDSKDGSGS AHGGLAPAAA AYYPYEPALG QYPYDRYGTM DSGTRRKNAT
160 170 180 190 200
RETTSTLKAW LQEHRKNPYP TKGEKIMLAI ITKMTLTQVS TWFANARRRL
210 220 230 240 250
KKENKMTWPP RNKCADEKRP YAEGEEEEGG EEEAREEPLK SSKNAEPVGK
260 270 280 290 300
EEKELELSDL DDFDPLEAEP PACELKPPFH SLDGGLERVP AAPDGPVKEA
310 320 330 340 350
SGALRMSLAA GGGAALDEDL ERARSCLRSA AAGPEPLPGA EGGPQVCEAK
360 370 380 390 400
LGFVPAGASA GLEAKPRIWS LAHTATAAAA AATSLSQTEF PSCMLKRQGP
410 420 430 440 450
AAPAAVSSAP ATSPSVALPH SGALDRHQDS PVTSLRNWVD GVFHDPILRH
460 470 480 490 500
STLNQAWATA KGALLDPGPL GRSLGAGANV LTAPLARAFP PAVPQDAPAA
510
GAARELLALP KAGGKPFCA
Length:519
Mass (Da):54,445
Last modified:January 11, 2001 - v2
Checksum:iB2FFB278BEFC5AD2
GO
Isoform 2 (identifier: P78413-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     136-136: R → RIKRLGGHPHKGIGLDLSGLGRSPGSL

Show »
Length:545
Mass (Da):57,050
Checksum:i0A427E0A8DD7E77F
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti181 – 1811I → T in AAB50004 (Ref. 6) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti119 – 1191A → T.1 Publication
Corresponds to variant rs2232376 [ dbSNP | Ensembl ].
VAR_049583

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei136 – 1361R → RIKRLGGHPHKGIGLDLSGL GRSPGSL in isoform 2. 1 PublicationVSP_054304

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF124733 mRNA. Translation: AAF23887.1.
AY335941 Genomic DNA. Translation: AAQ16547.1.
AB690778 mRNA. Translation: BAL44219.1.
AB690779 mRNA. Translation: BAL44220.1.
AB690780 mRNA. Translation: BAL44221.1.
AB690781 mRNA. Translation: BAL44222.1.
CH471102 Genomic DNA. Translation: EAX08138.1.
CH471102 Genomic DNA. Translation: EAX08139.1.
BC110912 mRNA. Translation: AAI10913.1.
BC136505 mRNA. Translation: AAI36506.1.
BC136506 mRNA. Translation: AAI36507.1.
U90306 mRNA. Translation: AAB50004.1.
CCDSiCCDS3867.1. [P78413-1]
CCDS75225.1. [P78413-2]
RefSeqiNP_001265561.1. NM_001278632.1. [P78413-1]
NP_001265562.1. NM_001278633.1. [P78413-2]
NP_001265563.1. NM_001278634.1. [P78413-1]
NP_001265564.1. NM_001278635.1. [P78413-2]
NP_057442.1. NM_016358.2. [P78413-1]
UniGeneiHs.196927.

Genome annotation databases

EnsembliENST00000231357; ENSP00000231357; ENSG00000113430. [P78413-1]
ENST00000505790; ENSP00000423161; ENSG00000113430. [P78413-1]
ENST00000513692; ENSP00000424235; ENSG00000113430. [P78413-1]
ENST00000613726; ENSP00000482393; ENSG00000113430. [P78413-2]
ENST00000622814; ENSP00000481396; ENSG00000113430. [P78413-2]
GeneIDi50805.
KEGGihsa:50805.
UCSCiuc003jcz.2. human. [P78413-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF124733 mRNA. Translation: AAF23887.1.
AY335941 Genomic DNA. Translation: AAQ16547.1.
AB690778 mRNA. Translation: BAL44219.1.
AB690779 mRNA. Translation: BAL44220.1.
AB690780 mRNA. Translation: BAL44221.1.
AB690781 mRNA. Translation: BAL44222.1.
CH471102 Genomic DNA. Translation: EAX08138.1.
CH471102 Genomic DNA. Translation: EAX08139.1.
BC110912 mRNA. Translation: AAI10913.1.
BC136505 mRNA. Translation: AAI36506.1.
BC136506 mRNA. Translation: AAI36507.1.
U90306 mRNA. Translation: AAB50004.1.
CCDSiCCDS3867.1. [P78413-1]
CCDS75225.1. [P78413-2]
RefSeqiNP_001265561.1. NM_001278632.1. [P78413-1]
NP_001265562.1. NM_001278633.1. [P78413-2]
NP_001265563.1. NM_001278634.1. [P78413-1]
NP_001265564.1. NM_001278635.1. [P78413-2]
NP_057442.1. NM_016358.2. [P78413-1]
UniGeneiHs.196927.

3D structure databases

ProteinModelPortaliP78413.
SMRiP78413. Positions 151-200.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119125. 2 interactions.
STRINGi9606.ENSP00000231357.

PTM databases

PhosphoSiteiP78413.

Polymorphism and mutation databases

BioMutaiIRX4.
DMDMi12644347.

Proteomic databases

MaxQBiP78413.
PaxDbiP78413.
PRIDEiP78413.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000231357; ENSP00000231357; ENSG00000113430. [P78413-1]
ENST00000505790; ENSP00000423161; ENSG00000113430. [P78413-1]
ENST00000513692; ENSP00000424235; ENSG00000113430. [P78413-1]
ENST00000613726; ENSP00000482393; ENSG00000113430. [P78413-2]
ENST00000622814; ENSP00000481396; ENSG00000113430. [P78413-2]
GeneIDi50805.
KEGGihsa:50805.
UCSCiuc003jcz.2. human. [P78413-1]

Organism-specific databases

CTDi50805.
GeneCardsiGC05M001930.
HGNCiHGNC:6129. IRX4.
MIMi606199. gene.
neXtProtiNX_P78413.
PharmGKBiPA29927.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG310996.
GeneTreeiENSGT00750000117365.
HOGENOMiHOG000234546.
HOVERGENiHBG006180.
InParanoidiP78413.
OMAiTTLRNWV.
OrthoDBiEOG7J1802.
PhylomeDBiP78413.

Miscellaneous databases

GeneWikiiIRX4.
GenomeRNAii50805.
NextBioi35525178.
PROiP78413.
SOURCEiSearch...

Gene expression databases

BgeeiP78413.
CleanExiHS_IRX4.
ExpressionAtlasiP78413. baseline and differential.
GenevisibleiP78413. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR008422. Homeobox_KN_domain.
IPR009057. Homeodomain-like.
IPR003893. Iroquois_homeo.
[Graphical view]
PfamiPF05920. Homeobox_KN. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
SM00548. IRO. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cardiac expression of the ventricle-specific homeobox gene Irx4 is modulated by Nkx2-5 and dHand."
    Bruneau B.G., Bao Z.-Z., Tanaka M., Schott J.-J., Izumo S., Cepko C.L., Seidman J.G., Seidman C.E.
    Dev. Biol. 217:266-277(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Characterization of the human homeobox two-cluster Iroquois gene family."
    Hansen L., Wu Q., Tommerup N.
    Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "IRX4 at 5p15 suppresses prostate cancer growth through the interaction with vitamin D receptor, conferring prostate cancer susceptibility."
    Nguyen H.H., Takata R., Akamatsu S., Shigemizu D., Tsunoda T., Furihata M., Takahashi A., Kubo M., Kamatani N., Ogawa O., Fujioka T., Nakamura Y., Nakagawa H.
    Hum. Mol. Genet. 21:2076-2085(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), ALTERNATIVE SPLICING, INTERACTION WITH VDR.
    Tissue: Prostate.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT THR-119.
    Tissue: Placenta.
  6. "IRX: a new family of human homeobox genes from the breast."
    Lewis M.T., Strickland P.A., Ross S., Snyder C.J., Daniel C.W.
    Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 80-191 (ISOFORM 1).

Entry informationi

Entry nameiIRX4_HUMAN
AccessioniPrimary (citable) accession number: P78413
Secondary accession number(s): B2RMW5
, D3DTC5, H1AFL0, H1AFL1, Q2NL64, Q9UHR2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 11, 2001
Last modified: June 24, 2015
This is version 122 of the entry and version 2 of the sequence. [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. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.