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P78413

- IRX4_HUMAN

UniProt

P78413 - IRX4_HUMAN

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Protein
Iroquois-class homeodomain protein IRX-4
Gene
IRX4, IRXA3
Organism
Homo sapiens (Human)
Status
Reviewed - 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-type
Add
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: InterPro
  2. sequence-specific DNA binding transcription factor activity Source: InterPro

GO - Biological processi

  1. establishment of organ orientation Source: Ensembl
  2. heart development Source: ProtInc
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: Chromosome 5

Organism-specific databases

HGNCiHGNC:6129. IRX4.

Subcellular locationi

Nucleus Inferred

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA29927.

PTM / Processingi

Molecule processing

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

Proteomic databases

MaxQBiP78413.
PaxDbiP78413.
PRIDEiP78413.

PTM databases

PhosphoSiteiP78413.

Expressioni

Tissue specificityi

Predominantly expressed in cardiac ventricles.

Gene expression databases

ArrayExpressiP78413.
BgeeiP78413.
CleanExiHS_IRX4.
GenevestigatoriP78413.

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.

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.

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG310996.
HOGENOMiHOG000234546.
HOVERGENiHBG006180.
InParanoidiP78413.
OMAiCELKPPF.
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. Align

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

MSYPQFGYPY SSAPQFLMAT NSLSTCCESG GRTLADSGPA ASAQAPVYCP    50
VYESRLLATA RHELNSAAAL GVYGGPYGGS QGYGNYVTYG SEASAFYSLN 100
SFDSKDGSGS AHGGLAPAAA AYYPYEPALG QYPYDRYGTM DSGTRRKNAT 150
RETTSTLKAW LQEHRKNPYP TKGEKIMLAI ITKMTLTQVS TWFANARRRL 200
KKENKMTWPP RNKCADEKRP YAEGEEEEGG EEEAREEPLK SSKNAEPVGK 250
EEKELELSDL DDFDPLEAEP PACELKPPFH SLDGGLERVP AAPDGPVKEA 300
SGALRMSLAA GGGAALDEDL ERARSCLRSA AAGPEPLPGA EGGPQVCEAK 350
LGFVPAGASA GLEAKPRIWS LAHTATAAAA AATSLSQTEF PSCMLKRQGP 400
AAPAAVSSAP ATSPSVALPH SGALDRHQDS PVTSLRNWVD GVFHDPILRH 450
STLNQAWATA KGALLDPGPL GRSLGAGANV LTAPLARAFP PAVPQDAPAA 500
GAARELLALP KAGGKPFCA 519
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

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.
VSP_054304

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti181 – 1811I → T in AAB50004. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
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]
XP_006714539.1. XM_006714476.1. [P78413-2]
UniGeneiHs.196927.

Genome annotation databases

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

Polymorphism databases

DMDMi12644347.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS3867.1. [P78413-1 ]
RefSeqi NP_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 ]
XP_006714539.1. XM_006714476.1. [P78413-2 ]
UniGenei Hs.196927.

3D structure databases

ProteinModelPortali P78413.
SMRi P78413. Positions 151-200.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119125. 2 interactions.
STRINGi 9606.ENSP00000231357.

PTM databases

PhosphoSitei P78413.

Polymorphism databases

DMDMi 12644347.

Proteomic databases

MaxQBi P78413.
PaxDbi P78413.
PRIDEi P78413.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000231357 ; ENSP00000231357 ; ENSG00000113430 .
ENST00000505790 ; ENSP00000423161 ; ENSG00000113430 .
ENST00000513692 ; ENSP00000424235 ; ENSG00000113430 .
GeneIDi 50805.
KEGGi hsa:50805.
UCSCi uc003jcz.2. human. [P78413-1 ]

Organism-specific databases

CTDi 50805.
GeneCardsi GC05M001930.
HGNCi HGNC:6129. IRX4.
MIMi 606199. gene.
neXtProti NX_P78413.
PharmGKBi PA29927.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG310996.
HOGENOMi HOG000234546.
HOVERGENi HBG006180.
InParanoidi P78413.
OMAi CELKPPF.
OrthoDBi EOG7J1802.
PhylomeDBi P78413.

Miscellaneous databases

GeneWikii IRX4.
GenomeRNAii 50805.
NextBioi 35525178.
PROi P78413.
SOURCEi Search...

Gene expression databases

ArrayExpressi P78413.
Bgeei P78413.
CleanExi HS_IRX4.
Genevestigatori P78413.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR008422. Homeobox_KN_domain.
IPR009057. Homeodomain-like.
IPR003893. Iroquois_homeo.
[Graphical view ]
Pfami PF05920. Homeobox_KN. 1 hit.
[Graphical view ]
SMARTi SM00389. HOX. 1 hit.
SM00548. IRO. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: September 3, 2014
This is version 116 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

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