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Homeobox protein MIXL1 (Homeodomain protein MIX) (hMix) (MIX1 homeobox-like protein 1) (Mix.1 homeobox-like protein)

 MIXL1_HUMAN             Reviewed;         232 AA.
Q9H2W2; B7ZLF9;
13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
01-MAR-2001, sequence version 1.
27-SEP-2017, entry version 147.
RecName: Full=Homeobox protein MIXL1;
AltName: Full=Homeodomain protein MIX;
Short=hMix;
AltName: Full=MIX1 homeobox-like protein 1;
AltName: Full=Mix.1 homeobox-like protein;
Name=MIXL1; Synonyms=MIXL;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, AND
TISSUE SPECIFICITY.
PubMed=12070013; DOI=10.1182/blood.V100.1.89;
Guo W., Chan A.P., Liang H., Wieder E.D., Molldrem J.J., Etkin L.D.,
Nagarajan L.;
"A human Mix-like homeobox gene MIXL shows functional similarity to
Xenopus Mix.1.";
Blood 100:89-95(2002).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=11084649;
DOI=10.1002/1097-0177(2000)9999:9999<::AID-DVDY1070>3.0.CO;2-O;
Robb L., Hartley L., Begley C.G., Brodnicki T.C., Copeland N.G.,
Gilbert D.J., Jenkins N.A., Elefanty A.G.;
"Cloning, expression analysis, and chromosomal localization of murine
and human homologues of a Xenopus mix gene.";
Dev. Dyn. 219:497-504(2000).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16710414; DOI=10.1038/nature04727;
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
Beck S., Rogers J., Bentley D.R.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
TISSUE=Brain;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
TISSUE SPECIFICITY.
PubMed=16433620; DOI=10.1089/scd.2005.14.656;
Mossman A.K., Sourris K., Ng E., Stanley E.G., Elefanty A.G.;
"Mixl1 and oct4 proteins are transiently co-expressed in
differentiating mouse and human embryonic stem cells.";
Stem Cells Dev. 14:656-663(2005).
[7]
PHOSPHORYLATION AT TYR-20.
PubMed=17224082; DOI=10.1186/1750-2187-1-6;
Guo W., Nagarajan L.;
"Amino terminal tyrosine phosphorylation of human MIXL1.";
J. Mol. Signal. 1:6-6(2006).
[8]
SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
PubMed=17303500; DOI=10.1016/j.humpath.2006.09.020;
Drakos E., Rassidakis G.Z., Leventaki V., Guo W., Medeiros L.J.,
Nagarajan L.;
"Differential expression of the human MIXL1 gene product in non-
Hodgkin and Hodgkin lymphomas.";
Hum. Pathol. 38:500-507(2007).
-!- FUNCTION: Transcription factor that play a central role in proper
axial mesendoderm morphogenesis and endoderm formation. Required
for efficient differentiation of cells from the primitive streak
stage to blood, by acting early in the recruitment and/or
expansion of mesodermal progenitors to the hemangioblastic and
hematopoietic lineages. Also involved in the morphogenesis of the
heart and the gut during embryogenesis. Acts as a negative
regulator of brachyury expression (By similarity). {ECO:0000250}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-
ProRule:PRU00108, ECO:0000269|PubMed:12070013,
ECO:0000269|PubMed:17303500}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q9H2W2-1; Sequence=Displayed;
Name=2;
IsoId=Q9H2W2-2; Sequence=VSP_054305;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Restricted to progenitors and secondary lymph
tissues. In normal hematopoiesis, it is restricted to immature
B- and T-lymphoid cells. Present in differentiating embryonic stem
cells (at protein level). {ECO:0000269|PubMed:12070013,
ECO:0000269|PubMed:16433620, ECO:0000269|PubMed:17303500}.
-!- PTM: Phosphorylated at multiple sites.
{ECO:0000269|PubMed:17224082}.
-!- SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}.
-!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
and Haematology;
URL="http://atlasgeneticsoncology.org/Genes/MIXL1ID47624ch1q42.html";
-----------------------------------------------------------------------
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EMBL; AF211891; AAG35776.1; -; mRNA.
EMBL; AF218357; AAK01479.1; -; Genomic_DNA.
EMBL; AL592045; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471098; EAW69778.1; -; Genomic_DNA.
EMBL; BC111974; AAI11975.1; -; mRNA.
EMBL; BC113441; AAI13442.1; -; mRNA.
EMBL; BC143784; AAI43785.1; -; mRNA.
CCDS; CCDS1552.1; -. [Q9H2W2-1]
CCDS; CCDS60432.1; -. [Q9H2W2-2]
RefSeq; NP_001269331.1; NM_001282402.1. [Q9H2W2-2]
RefSeq; NP_114150.1; NM_031944.2. [Q9H2W2-1]
UniGene; Hs.282079; -.
ProteinModelPortal; Q9H2W2; -.
SMR; Q9H2W2; -.
IntAct; Q9H2W2; 1.
STRING; 9606.ENSP00000355775; -.
iPTMnet; Q9H2W2; -.
PhosphoSitePlus; Q9H2W2; -.
DMDM; 74762734; -.
EPD; Q9H2W2; -.
PaxDb; Q9H2W2; -.
PeptideAtlas; Q9H2W2; -.
PRIDE; Q9H2W2; -.
DNASU; 83881; -.
Ensembl; ENST00000366810; ENSP00000355775; ENSG00000185155. [Q9H2W2-1]
Ensembl; ENST00000542034; ENSP00000442439; ENSG00000185155. [Q9H2W2-2]
GeneID; 83881; -.
KEGG; hsa:83881; -.
UCSC; uc010pvm.4; human. [Q9H2W2-1]
CTD; 83881; -.
DisGeNET; 83881; -.
EuPathDB; HostDB:ENSG00000185155.11; -.
GeneCards; MIXL1; -.
HGNC; HGNC:13363; MIXL1.
HPA; HPA005662; -.
MIM; 609852; gene.
neXtProt; NX_Q9H2W2; -.
OpenTargets; ENSG00000185155; -.
PharmGKB; PA134976348; -.
eggNOG; KOG0849; Eukaryota.
eggNOG; ENOG410XS01; LUCA.
GeneTree; ENSGT00860000133740; -.
HOGENOM; HOG000113594; -.
HOVERGEN; HBG106595; -.
InParanoid; Q9H2W2; -.
OMA; TMYPDIH; -.
OrthoDB; EOG091G15I5; -.
PhylomeDB; Q9H2W2; -.
TreeFam; TF334098; -.
GenomeRNAi; 83881; -.
PRO; PR:Q9H2W2; -.
Proteomes; UP000005640; Chromosome 1.
Bgee; ENSG00000185155; -.
CleanEx; HS_MIXL1; -.
ExpressionAtlas; Q9H2W2; baseline and differential.
Genevisible; Q9H2W2; HS.
GO; GO:0000790; C:nuclear chromatin; ISS:BHF-UCL.
GO; GO:0005634; C:nucleus; IDA:HPA.
GO; GO:0000987; F:core promoter proximal region sequence-specific DNA binding; ISS:BHF-UCL.
GO; GO:0042803; F:protein homodimerization activity; ISS:BHF-UCL.
GO; GO:0000978; F:RNA polymerase II core promoter proximal region sequence-specific DNA binding; ISS:BHF-UCL.
GO; GO:0000980; F:RNA polymerase II distal enhancer sequence-specific DNA binding; ISS:BHF-UCL.
GO; GO:0001103; F:RNA polymerase II repressing transcription factor binding; IPI:BHF-UCL.
GO; GO:0001085; F:RNA polymerase II transcription factor binding; ISS:BHF-UCL.
GO; GO:0001077; F:transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding; ISS:BHF-UCL.
GO; GO:0001205; F:transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding; ISS:BHF-UCL.
GO; GO:0001190; F:transcriptional activator activity, RNA polymerase II transcription factor binding; ISS:BHF-UCL.
GO; GO:0042074; P:cell migration involved in gastrulation; IEA:Ensembl.
GO; GO:0048565; P:digestive tract development; ISS:BHF-UCL.
GO; GO:0007492; P:endoderm development; ISS:BHF-UCL.
GO; GO:0035987; P:endodermal cell differentiation; ISS:BHF-UCL.
GO; GO:0007369; P:gastrulation; ISS:BHF-UCL.
GO; GO:0007507; P:heart development; ISS:BHF-UCL.
GO; GO:0002244; P:hematopoietic progenitor cell differentiation; ISS:BHF-UCL.
GO; GO:1901533; P:negative regulation of hematopoietic progenitor cell differentiation; ISS:BHF-UCL.
GO; GO:2000382; P:positive regulation of mesoderm development; ISS:BHF-UCL.
GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; ISS:BHF-UCL.
CDD; cd00086; homeodomain; 1.
InterPro; IPR009057; Homeobox-like.
InterPro; IPR017970; Homeobox_CS.
InterPro; IPR001356; Homeobox_dom.
Pfam; PF00046; Homeobox; 1.
SMART; SM00389; HOX; 1.
SUPFAM; SSF46689; SSF46689; 1.
PROSITE; PS00027; HOMEOBOX_1; 1.
PROSITE; PS50071; HOMEOBOX_2; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Developmental protein;
Differentiation; DNA-binding; Homeobox; Nucleus; Phosphoprotein;
Reference proteome; Transcription; Transcription regulation.
CHAIN 1 232 Homeobox protein MIXL1.
/FTId=PRO_0000311333.
DNA_BIND 86 145 Homeobox. {ECO:0000255|PROSITE-
ProRule:PRU00108}.
COMPBIAS 31 76 Pro-rich.
MOD_RES 20 20 Phosphotyrosine.
{ECO:0000269|PubMed:17224082}.
VAR_SEQ 130 130 I -> IQLLFSPLF (in isoform 2).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_054305.
SEQUENCE 232 AA; 24659 MW; 2E8A6A811799A8F0 CRC64;
MATAESRALQ FAEGAAFPAY RAPHAGGALL PPPSPAAALL PAPPAGPGPA TFAGFLGRDP
GPAPPPPASL GSPAPPKGAA APSASQRRKR TSFSAEQLQL LELVFRRTRY PDIHLRERLA
ALTLLPESRI QVWFQNRRAK SRRQSGKSFQ PLARPEIILN HCAPGTETKC LKPQLPLEVD
VNCLPEPNGV GGGISDSSSQ GQNFETCSPL SEDIGSKLDS WEEHIFSAFG NF


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