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P78413

- IRX4_HUMAN

UniProt

P78413 - IRX4_HUMAN

Protein

Iroquois-class homeodomain protein IRX-4

Gene

IRX4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 2 (11 Jan 2001)
      Previous versions | rss
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    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

    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

    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 Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    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-4PRO_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.
    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.
    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

    Experimental Info

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

    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:
    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. [P78413-1]
    ENST00000505790; ENSP00000423161; ENSG00000113430. [P78413-1]
    ENST00000513692; ENSP00000424235; ENSG00000113430. [P78413-1]
    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 . [P78413-1 ]
    ENST00000505790 ; ENSP00000423161 ; ENSG00000113430 . [P78413-1 ]
    ENST00000513692 ; ENSP00000424235 ; ENSG00000113430 . [P78413-1 ]
    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

    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: October 1, 2014
    This is version 117 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