IRX3_HUMAN
ID IRX3_HUMAN Reviewed; 501 AA.
AC P78415; Q7Z4A4; Q7Z4A5; Q8IVC6;
DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT 10-MAY-2004, sequence version 3.
DT 03-AUG-2022, entry version 168.
DE RecName: Full=Iroquois-class homeodomain protein IRX-3;
DE AltName: Full=Homeodomain protein IRXB1;
DE AltName: Full=Iroquois homeobox protein 3;
GN Name=IRX3; Synonyms=IRXB1;
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 [GENOMIC DNA / MRNA].
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT PRO-422.
RC TISSUE=Muscle;
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 [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 91-176.
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: Transcription factor involved in SHH-dependent neural
CC patterning. Together with NKX2-2 and NKX6-1 acts to restrict the
CC generation of motor neurons to the appropriate region of the neural
CC tube. Belongs to the class I proteins of neuronal progenitor factors,
CC which are repressed by SHH signals. Involved in the transcriptional
CC repression of MNX1 in non-motor neuron cells. Acts as a regulator of
CC energy metabolism. {ECO:0000250|UniProtKB:P81067}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the TALE/IRO homeobox family. {ECO:0000305}.
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DR EMBL; AY335942; AAQ16548.1; -; Genomic_DNA.
DR EMBL; AY335943; AAQ16549.1; -; mRNA.
DR EMBL; BC023667; AAH23667.1; -; mRNA.
DR EMBL; U90308; AAB50006.1; -; mRNA.
DR CCDS; CCDS10750.1; -.
DR RefSeq; NP_077312.2; NM_024336.2.
DR AlphaFoldDB; P78415; -.
DR SMR; P78415; -.
DR BioGRID; 122603; 2.
DR DIP; DIP-62120N; -.
DR IntAct; P78415; 1.
DR STRING; 9606.ENSP00000331608; -.
DR iPTMnet; P78415; -.
DR PhosphoSitePlus; P78415; -.
DR BioMuta; IRX3; -.
DR DMDM; 47117874; -.
DR EPD; P78415; -.
DR jPOST; P78415; -.
DR MassIVE; P78415; -.
DR MaxQB; P78415; -.
DR PaxDb; P78415; -.
DR PeptideAtlas; P78415; -.
DR PRIDE; P78415; -.
DR ProteomicsDB; 57620; -.
DR Antibodypedia; 14619; 362 antibodies from 29 providers.
DR DNASU; 79191; -.
DR Ensembl; ENST00000329734.4; ENSP00000331608.3; ENSG00000177508.12.
DR GeneID; 79191; -.
DR KEGG; hsa:79191; -.
DR MANE-Select; ENST00000329734.4; ENSP00000331608.3; NM_024336.3; NP_077312.2.
DR UCSC; uc002eht.2; human.
DR CTD; 79191; -.
DR DisGeNET; 79191; -.
DR GeneCards; IRX3; -.
DR HGNC; HGNC:14360; IRX3.
DR HPA; ENSG00000177508; Tissue enhanced (breast, skin).
DR MIM; 612985; gene.
DR neXtProt; NX_P78415; -.
DR OpenTargets; ENSG00000177508; -.
DR PharmGKB; PA29926; -.
DR VEuPathDB; HostDB:ENSG00000177508; -.
DR eggNOG; KOG0773; Eukaryota.
DR GeneTree; ENSGT00940000161299; -.
DR HOGENOM; CLU_042927_0_1_1; -.
DR InParanoid; P78415; -.
DR OMA; PNWTNRA; -.
DR OrthoDB; 814237at2759; -.
DR PhylomeDB; P78415; -.
DR TreeFam; TF319371; -.
DR PathwayCommons; P78415; -.
DR SignaLink; P78415; -.
DR SIGNOR; P78415; -.
DR BioGRID-ORCS; 79191; 34 hits in 1103 CRISPR screens.
DR ChiTaRS; IRX3; human.
DR GeneWiki; IRX3; -.
DR GenomeRNAi; 79191; -.
DR Pharos; P78415; Tbio.
DR PRO; PR:P78415; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; P78415; protein.
DR Bgee; ENSG00000177508; Expressed in nipple and 161 other tissues.
DR ExpressionAtlas; P78415; baseline and differential.
DR Genevisible; P78415; HS.
DR GO; GO:0030424; C:axon; IEA:Ensembl.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005737; C:cytoplasm; IEA:Ensembl.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; ISS:BHF-UCL.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; ISS:BHF-UCL.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; ISS:BHF-UCL.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0003167; P:atrioventricular bundle cell differentiation; ISS:BHF-UCL.
DR GO; GO:0048468; P:cell development; IBA:GO_Central.
DR GO; GO:0097009; P:energy homeostasis; ISS:UniProtKB.
DR GO; GO:0060932; P:His-Purkinje system cell differentiation; ISS:BHF-UCL.
DR GO; GO:0007498; P:mesoderm development; IEA:Ensembl.
DR GO; GO:0001656; P:metanephros development; IEA:Ensembl.
DR GO; GO:0045665; P:negative regulation of neuron differentiation; IEA:Ensembl.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; ISS:BHF-UCL.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
DR GO; GO:1903598; P:positive regulation of gap junction assembly; ISS:BHF-UCL.
DR GO; GO:0045666; P:positive regulation of neuron differentiation; IEA:Ensembl.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; ISS:BHF-UCL.
DR GO; GO:0003165; P:Purkinje myocyte development; ISS:BHF-UCL.
DR GO; GO:1901844; P:regulation of cell communication by electrical coupling involved in cardiac conduction; ISS:BHF-UCL.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0072086; P:specification of loop of Henle identity; IEA:Ensembl.
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 2: Evidence at transcript level;
KW Developmental protein; DNA-binding; Homeobox; Nucleus; Phosphoprotein;
KW Reference proteome; Repressor; Transcription; Transcription regulation.
FT CHAIN 1..501
FT /note="Iroquois-class homeodomain protein IRX-3"
FT /id="PRO_0000049155"
FT DNA_BIND 125..188
FT /note="Homeobox; TALE-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 190..381
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 190..205
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 206..260
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 308..335
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 323
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P81067"
FT MOD_RES 326
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P81067"
FT VARIANT 422
FT /note="L -> P (in dbSNP:rs1450355)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_061267"
FT VARIANT 479
FT /note="Q -> H (in dbSNP:rs1126960)"
FT /id="VAR_055957"
FT CONFLICT 222
FT /note="G -> C (in Ref. 1; AAQ16549)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 501 AA; 52119 MW; 638D984ED0BEF6C9 CRC64;
MSFPQLGYQY IRPLYPSERP GAAGGSGGSA GARGGLGAGA SELNASGSLS NVLSSVYGAP
YAAAAAAAAA QGYGAFLPYA AELPIFPQLG AQYELKDSPG VQHPAAAAAF PHPHPAFYPY
GQYQFGDPSR PKNATRESTS TLKAWLNEHR KNPYPTKGEK IMLAIITKMT LTQVSTWFAN
ARRRLKKENK MTWAPRSRTD EEGNAYGSER EEEDEEEDEE DGKRELELEE EELGGEEEDT
GGEGLADDDE DEEIDLENLD GAATEPELSL AGAARRDGDL GLGPISDSKN SDSEDSSEGL
EDRPLPVLSL APAPPPVAVA SPSLPSPPVS LDPCAPAPAP ASALQKPKIW SLAETATSPD
NPRRSPPGAG GSPPGAAVAP SALQLSPAAA AAAAHRLVSA PLGKFPAWTN RPFPGPPPGP
RLHPLSLLGS APPHLLGLPG AAGHPAAAAA FARPAEPEGG TDRCSALEVE KKLLKTAFQP
VPRRPQNHLD AALVLSALSS S
