NKX11_MOUSE
ID NKX11_MOUSE Reviewed; 440 AA.
AC G3UXB3;
DT 02-JUN-2021, integrated into UniProtKB/Swiss-Prot.
DT 23-FEB-2022, sequence version 2.
DT 03-AUG-2022, entry version 77.
DE RecName: Full=NK1 transcription factor-related protein 1 {ECO:0000305};
DE AltName: Full=Homeobox protein SAX-2;
DE AltName: Full=NKX-1.1;
GN Name=Nkx1-1 {ECO:0000312|MGI:MGI:109346};
GN Synonyms=Sax2 {ECO:0000303|PubMed:14645517};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [2]
RP DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE, AND INDUCTION.
RX PubMed=14645517; DOI=10.1128/mcb.23.24.9046-9060.2003;
RA Simon R., Lufkin T.;
RT "Postnatal lethality in mice lacking the Sax2 homeobox gene homologous to
RT Drosophila S59/slouch: evidence for positive and negative autoregulation.";
RL Mol. Cell. Biol. 23:9046-9060(2003).
RN [3]
RP DISRUPTION PHENOTYPE, AND FUNCTION.
RX PubMed=17879320; DOI=10.1002/dvdy.21320;
RA Simon R., Lufkin T., Bergemann A.D.;
RT "Homeobox gene Sax2 deficiency causes an imbalance in energy homeostasis.";
RL Dev. Dyn. 236:2792-2799(2007).
RN [4]
RP FUNCTION.
RX PubMed=21126319; DOI=10.1111/j.1742-4658.2010.07960.x;
RA Simon R., Britsch S., Bergemann A.;
RT "Ablation of Sax2 gene expression prevents diet-induced obesity.";
RL FEBS J. 278:371-382(2011).
CC -!- FUNCTION: May be required for the coordinated crosstalk of factors
CC involved in the maintenance of energy homeostasis, possibly by
CC regulating the transcription of specific factors involved in energy
CC balance. {ECO:0000269|PubMed:17879320, ECO:0000269|PubMed:21126319}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
CC -!- DEVELOPMENTAL STAGE: Detected as early as embryonic stage 10.5 dpc in
CC the ventral mesencephalon, metencephalon, and ventral neural tube and
CC continues to be expressed from this embryonic stage onward,
CC predominantly in the ventral neural tube and the mid/hindbrain boundary
CC region. In the later stages, 12.5 to 16.5 dpc, expression in the brain
CC is detected more specifically in the pons and medulla oblongata.
CC {ECO:0000269|PubMed:14645517}.
CC -!- INDUCTION: Autoregulated by a negative-feedback mechanism in the
CC ventral midbrain and a positive-feedback mechanism in the midbrain-
CC hindbrain boundary region and the eyes. {ECO:0000269|PubMed:14645517}.
CC -!- DISRUPTION PHENOTYPE: Homozygous knockout mice for Sax2 exhibit growth
CC retardation starting immediately after birth and leading to premature
CC death within the first 3 weeks postnatal. Mice do not exhibit any
CC obvious abnormal behavior or motor skills. All mice show normal
CC suckling behavior, but at 2 or 3 days prior to their death, they become
CC lethargic and show signs of wasting. The few homozygous animals
CC surviving to adulthood are fertile, but all the offspring from
CC homozygous intermatings die within 4 days postnatally (PubMed:14645517,
CC PubMed:17879320). At 2 weeks postnatal days, mice lack subcutaneous fat
CC and intra-abdominal epididymal and mesenteric white adipose tissue
CC (WAT) (PubMed:17879320). {ECO:0000269|PubMed:14645517,
CC ECO:0000269|PubMed:17879320}.
CC -!- SIMILARITY: Belongs to the NK-1 homeobox family. {ECO:0000305}.
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DR EMBL; AC145072; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR AlphaFoldDB; G3UXB3; -.
DR STRING; 10090.ENSMUSP00000133620; -.
DR iPTMnet; G3UXB3; -.
DR PhosphoSitePlus; G3UXB3; -.
DR PaxDb; G3UXB3; -.
DR PRIDE; G3UXB3; -.
DR Antibodypedia; 22251; 85 antibodies from 12 providers.
DR UCSC; uc056zzg.1; mouse.
DR MGI; MGI:109346; Nkx1-1.
DR VEuPathDB; HostDB:ENSMUSG00000029112; -.
DR eggNOG; KOG0488; Eukaryota.
DR HOGENOM; CLU_063378_1_0_1; -.
DR InParanoid; G3UXB3; -.
DR OMA; NDTNGYS; -.
DR PhylomeDB; G3UXB3; -.
DR TreeFam; TF316128; -.
DR Proteomes; UP000000589; Chromosome 5.
DR RNAct; G3UXB3; protein.
DR Bgee; ENSMUSG00000029112; Expressed in forelimb bud and 3 other tissues.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
DR GO; GO:0006629; P:lipid metabolic process; IMP:MGI.
DR GO; GO:0050877; P:nervous system process; IMP:MGI.
DR GO; GO:0043467; P:regulation of generation of precursor metabolites and energy; IMP:MGI.
DR GO; GO:0010906; P:regulation of glucose metabolic process; IMP:MGI.
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; IPR020479; Homeobox_metazoa.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
DR SMART; SM00389; HOX; 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 DNA-binding; Homeobox; Nucleus; Reference proteome.
FT CHAIN 1..440
FT /note="NK1 transcription factor-related protein 1"
FT /id="PRO_0000452744"
FT DNA_BIND 288..347
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 1..82
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 145..291
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 342..387
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 10..29
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 184..201
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 275..291
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 440 AA; 43611 MW; 98AC2E33B38A56A0 CRC64;
MSTSGPAAPG DVPALPPPPP GPGSGPAPPA PAATARDTMD GRAELPIFPR AGVPPLAASD
TVPAVPEGAG AARPAAPPRP TSFSVLDILD PNKFNSRRRR CVLLGPVVPA TCAPCAPAAC
VAVPAASGRS PRAELERRAL SAATGVAAAA GAEPTSAGDS YRADEAEANG YSSGSGRSPT
ADSEDEAPED EDEEEAPEVQ DAQGTEEPRG GSGGLGARGS GCPGAAEVEA SPVDDTAAPG
PRGNSPGAPG PPATATGAGS AGSTPQGAAV TTKPKRKRTG SDSKSGKPRR ARTAFTYEQL
VALENKFKAT RYLSVCERLN LALSLSLTET QVKIWFQNRR TKWKKQNPGA DTSAPTGGGG
GPGPGAGPGA GLPGGLSPLS PSPPMGAPLA LHGPAGYPAH SPGGLVCAAQ LPFLSSPAVL
SPFVLGSQTY GAPAFYAPHL
