IRX4_HUMAN
ID IRX4_HUMAN Reviewed; 519 AA.
AC P78413; B2RMW5; D3DTC5; H1AFL0; H1AFL1; Q2NL64; Q9UHR2;
DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2001, sequence version 2.
DT 03-AUG-2022, entry version 167.
DE RecName: Full=Iroquois-class homeodomain protein IRX-4;
DE AltName: Full=Homeodomain protein IRXA3;
DE AltName: Full=Iroquois homeobox protein 4;
GN Name=IRX4; Synonyms=IRXA3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=10625552; DOI=10.1006/dbio.1999.9548;
RA Bruneau B.G., Bao Z.-Z., Tanaka M., Schott J.-J., Izumo S., Cepko C.L.,
RA Seidman J.G., Seidman C.E.;
RT "Cardiac expression of the ventricle-specific homeobox gene Irx4 is
RT modulated by Nkx2-5 and dHand.";
RL Dev. Biol. 217:266-277(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Hansen L., Wu Q., Tommerup N.;
RT "Characterization of the human homeobox two-cluster Iroquois gene family.";
RL Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), ALTERNATIVE SPLICING, AND
RP INTERACTION WITH VDR.
RC TISSUE=Prostate;
RX PubMed=22323358; DOI=10.1093/hmg/dds025;
RA Nguyen H.H., Takata R., Akamatsu S., Shigemizu D., Tsunoda T., Furihata M.,
RA Takahashi A., Kubo M., Kamatani N., Ogawa O., Fujioka T., Nakamura Y.,
RA Nakagawa H.;
RT "IRX4 at 5p15 suppresses prostate cancer growth through the interaction
RT with vitamin D receptor, conferring prostate cancer susceptibility.";
RL Hum. Mol. Genet. 21:2076-2085(2012).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT THR-119.
RC TISSUE=Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 80-191 (ISOFORM 1).
RA Lewis M.T., Strickland P.A., Ross S., Snyder C.J., Daniel C.W.;
RT "IRX: a new family of human homeobox genes from the breast.";
RL Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: Likely to be an important mediator of ventricular
CC differentiation during cardiac development.
CC -!- SUBUNIT: Interacts with the vitamin D receptor VDR but doesn't affect
CC its transactivation activity. {ECO:0000269|PubMed:22323358}.
CC -!- INTERACTION:
CC P78413; P78424: POU6F2; NbExp=3; IntAct=EBI-12073510, EBI-12029004;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P78413-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P78413-2; Sequence=VSP_054304;
CC -!- TISSUE SPECIFICITY: Predominantly expressed in cardiac ventricles.
CC -!- SIMILARITY: Belongs to the TALE/IRO homeobox family. {ECO:0000305}.
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DR EMBL; AF124733; AAF23887.1; -; mRNA.
DR EMBL; AY335941; AAQ16547.1; -; Genomic_DNA.
DR EMBL; AB690778; BAL44219.1; -; mRNA.
DR EMBL; AB690779; BAL44220.1; -; mRNA.
DR EMBL; AB690780; BAL44221.1; -; mRNA.
DR EMBL; AB690781; BAL44222.1; -; mRNA.
DR EMBL; CH471102; EAX08138.1; -; Genomic_DNA.
DR EMBL; CH471102; EAX08139.1; -; Genomic_DNA.
DR EMBL; BC110912; AAI10913.1; -; mRNA.
DR EMBL; BC136505; AAI36506.1; -; mRNA.
DR EMBL; BC136506; AAI36507.1; -; mRNA.
DR EMBL; U90306; AAB50004.1; -; mRNA.
DR CCDS; CCDS3867.1; -. [P78413-1]
DR CCDS; CCDS75225.1; -. [P78413-2]
DR RefSeq; NP_001265561.1; NM_001278632.1. [P78413-1]
DR RefSeq; NP_001265562.1; NM_001278633.1. [P78413-2]
DR RefSeq; NP_001265563.1; NM_001278634.1. [P78413-1]
DR RefSeq; NP_001265564.1; NM_001278635.1. [P78413-2]
DR RefSeq; NP_057442.1; NM_016358.2. [P78413-1]
DR AlphaFoldDB; P78413; -.
DR SMR; P78413; -.
DR BioGRID; 119125; 6.
DR IntAct; P78413; 1.
DR STRING; 9606.ENSP00000482393; -.
DR iPTMnet; P78413; -.
DR PhosphoSitePlus; P78413; -.
DR BioMuta; IRX4; -.
DR DMDM; 12644347; -.
DR EPD; P78413; -.
DR jPOST; P78413; -.
DR MassIVE; P78413; -.
DR MaxQB; P78413; -.
DR PaxDb; P78413; -.
DR PeptideAtlas; P78413; -.
DR PRIDE; P78413; -.
DR ProteomicsDB; 57618; -. [P78413-1]
DR Antibodypedia; 9116; 74 antibodies from 17 providers.
DR DNASU; 50805; -.
DR Ensembl; ENST00000231357.7; ENSP00000231357.2; ENSG00000113430.10. [P78413-1]
DR Ensembl; ENST00000505790.5; ENSP00000423161.1; ENSG00000113430.10. [P78413-1]
DR Ensembl; ENST00000513692.5; ENSP00000424235.1; ENSG00000113430.10. [P78413-1]
DR Ensembl; ENST00000613726.4; ENSP00000482393.1; ENSG00000113430.10. [P78413-2]
DR Ensembl; ENST00000622814.4; ENSP00000481396.1; ENSG00000113430.10. [P78413-2]
DR GeneID; 50805; -.
DR KEGG; hsa:50805; -.
DR MANE-Select; ENST00000231357.7; ENSP00000231357.2; NM_016358.3; NP_057442.1.
DR UCSC; uc003jcz.2; human. [P78413-1]
DR CTD; 50805; -.
DR DisGeNET; 50805; -.
DR GeneCards; IRX4; -.
DR HGNC; HGNC:6129; IRX4.
DR HPA; ENSG00000113430; Tissue enhanced (esophagus, prostate, salivary gland, skin, vagina).
DR MIM; 606199; gene.
DR neXtProt; NX_P78413; -.
DR OpenTargets; ENSG00000113430; -.
DR PharmGKB; PA29927; -.
DR VEuPathDB; HostDB:ENSG00000113430; -.
DR eggNOG; KOG0773; Eukaryota.
DR GeneTree; ENSGT00940000158596; -.
DR HOGENOM; CLU_042927_1_1_1; -.
DR InParanoid; P78413; -.
DR OMA; QQAKSCY; -.
DR OrthoDB; 814237at2759; -.
DR PhylomeDB; P78413; -.
DR PathwayCommons; P78413; -.
DR SignaLink; P78413; -.
DR BioGRID-ORCS; 50805; 8 hits in 1091 CRISPR screens.
DR ChiTaRS; IRX4; human.
DR GeneWiki; IRX4; -.
DR GenomeRNAi; 50805; -.
DR Pharos; P78413; Tbio.
DR PRO; PR:P78413; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; P78413; protein.
DR Bgee; ENSG00000113430; Expressed in skin of abdomen and 69 other tissues.
DR ExpressionAtlas; P78413; baseline and differential.
DR Genevisible; P78413; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0048468; P:cell development; IBA:GO_Central.
DR GO; GO:0048561; P:establishment of animal organ orientation; IEA:Ensembl.
DR GO; GO:0007507; P:heart development; TAS:ProtInc.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR008422; Homeobox_KN_domain.
DR InterPro; IPR003893; Iroquois_homeo.
DR Pfam; PF05920; Homeobox_KN; 1.
DR SMART; SM00389; HOX; 1.
DR SMART; SM00548; IRO; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Homeobox; Nucleus; Reference proteome.
FT CHAIN 1..519
FT /note="Iroquois-class homeodomain protein IRX-4"
FT /id="PRO_0000049157"
FT DNA_BIND 143..204
FT /note="Homeobox; TALE-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 204..298
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 204..225
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 234..256
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 136
FT /note="R -> RIKRLGGHPHKGIGLDLSGLGRSPGSL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:22323358"
FT /id="VSP_054304"
FT VARIANT 119
FT /note="A -> T (in dbSNP:rs2232376)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_049583"
FT CONFLICT 181
FT /note="I -> T (in Ref. 6; AAB50004)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 519 AA; 54445 MW; B2FFB278BEFC5AD2 CRC64;
MSYPQFGYPY SSAPQFLMAT NSLSTCCESG GRTLADSGPA ASAQAPVYCP VYESRLLATA
RHELNSAAAL GVYGGPYGGS QGYGNYVTYG SEASAFYSLN SFDSKDGSGS AHGGLAPAAA
AYYPYEPALG QYPYDRYGTM DSGTRRKNAT RETTSTLKAW LQEHRKNPYP TKGEKIMLAI
ITKMTLTQVS TWFANARRRL KKENKMTWPP RNKCADEKRP YAEGEEEEGG EEEAREEPLK
SSKNAEPVGK EEKELELSDL DDFDPLEAEP PACELKPPFH SLDGGLERVP AAPDGPVKEA
SGALRMSLAA GGGAALDEDL ERARSCLRSA AAGPEPLPGA EGGPQVCEAK LGFVPAGASA
GLEAKPRIWS LAHTATAAAA AATSLSQTEF PSCMLKRQGP AAPAAVSSAP ATSPSVALPH
SGALDRHQDS PVTSLRNWVD GVFHDPILRH STLNQAWATA KGALLDPGPL GRSLGAGANV
LTAPLARAFP PAVPQDAPAA GAARELLALP KAGGKPFCA
