Q9H2W2 (MIXL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein MIXL1

Alternative name(s):
Homeodomain protein MIX
Short name=hMix
MIX1 homeobox-like protein 1
Mix.1 homeobox-like protein

Gene names

Name:	MIXL1
Synonyms:	MIXL

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	232 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

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.
Subcellular location	Nucleus Ref.1 Ref.8.
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). Ref.1 Ref.6 Ref.8
Post-translational modification	Phosphorylated at multiple sites. Ref.7
Sequence similarities	Belongs to the paired homeobox family. Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Biological process	Differentiation Transcription Transcription regulation
Cellular component	Nucleus
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell migration involved in gastrulation Inferred from electronic annotation. Source: Compara digestive tract development Inferred from sequence or structural similarity. Source: BHF-UCL endodermal cell differentiation Inferred from sequence or structural similarity. Source: BHF-UCL heart development Inferred from sequence or structural similarity. Source: BHF-UCL hematopoietic progenitor cell differentiation Inferred from sequence or structural similarity. Source: BHF-UCL negative regulation of hematopoietic progenitor cell differentiation Inferred from sequence or structural similarity. Source: BHF-UCL positive regulation of mesoderm development Inferred from sequence or structural similarity. Source: BHF-UCL
Cellular_component	nuclear chromatin Inferred from sequence or structural similarity. Source: BHF-UCL
Molecular_function	RNA polymerase II core promoter proximal region sequence-specific DNA binding Inferred from sequence or structural similarity PubMed 22164283. Source: BHF-UCL RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Inferred from sequence or structural similarity PubMed 22164283. Source: BHF-UCL RNA polymerase II distal enhancer sequence-specific DNA binding Inferred from sequence or structural similarity PubMed 22164283. Source: BHF-UCL RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Inferred from sequence or structural similarity PubMed 22164283. Source: BHF-UCL RNA polymerase II transcription factor binding Inferred from sequence or structural similarity PubMed 22164283. Source: BHF-UCL RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription Inferred from sequence or structural similarity PubMed 22164283. Source: BHF-UCL protein homodimerization activity Inferred from sequence or structural similarity PubMed 22164283. Source: BHF-UCL
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 232	232	Homeobox protein MIXL1		PRO_0000311333
Regions
	DNA binding	86 – 145	60	Homeobox
	Compositional bias	31 – 76	46	Pro-rich
Amino acid modifications
	Modified residue	20	1	Phosphotyrosine Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Q9H2W2 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 2E8A6A811799A8F0	FASTA	232	24,659
	10 20 30 40 50 60 MATAESRALQ FAEGAAFPAY RAPHAGGALL PPPSPAAALL PAPPAGPGPA TFAGFLGRDP 70 80 90 100 110 120 GPAPPPPASL GSPAPPKGAA APSASQRRKR TSFSAEQLQL LELVFRRTRY PDIHLRERLA 130 140 150 160 170 180 ALTLLPESRI QVWFQNRRAK SRRQSGKSFQ PLARPEIILN HCAPGTETKC LKPQLPLEVD 190 200 210 220 230 VNCLPEPNGV GGGISDSSSQ GQNFETCSPL SEDIGSKLDS WEEHIFSAFG NF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A human Mix-like homeobox gene MIXL shows functional similarity to Xenopus Mix.1." Guo W., Chan A.P., Liang H., Wieder E.D., Molldrem J.J., Etkin L.D., Nagarajan L. Blood 100:89-95(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[2]	"Cloning, expression analysis, and chromosomal localization of murine and human homologues of a Xenopus mix gene." Robb L., Hartley L., Begley C.G., Brodnicki T.C., Copeland N.G., Gilbert D.J., Jenkins N.A., Elefanty A.G. Dev. Dyn. 219:497-504(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"The DNA sequence and biological annotation of human chromosome 1." 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. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	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 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]. Tissue: Brain.
[6]	"Mixl1 and oct4 proteins are transiently co-expressed in differentiating mouse and human embryonic stem cells." Mossman A.K., Sourris K., Ng E., Stanley E.G., Elefanty A.G. Stem Cells Dev. 14:656-663(2005) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
[7]	"Amino terminal tyrosine phosphorylation of human MIXL1." Guo W., Nagarajan L. J. Mol. Signal. 1:6-6(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION AT TYR-20.
[8]	"Differential expression of the human MIXL1 gene product in non-Hodgkin and Hodgkin lymphomas." Drakos E., Rassidakis G.Z., Leventaki V., Guo W., Medeiros L.J., Nagarajan L. Hum. Pathol. 38:500-507(2007) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF211891 mRNA. Translation: AAG35776.1. AF218357 Genomic DNA. Translation: AAK01479.1. AL592045 Genomic DNA. Translation: CAH71924.1. CH471098 Genomic DNA. Translation: EAW69778.1. BC111974 mRNA. Translation: AAI11975.1. BC113441 mRNA. Translation: AAI13442.1.
IPI	IPI01012275.
RefSeq	NP_114150.1. NM_031944.1.
UniGene	Hs.282079.
3D structure databases
HSSP	HSSP built from PDB template 1FJL based on UniProtKB P06601.
ProteinModelPortal	Q9H2W2.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000355775.
PTM databases
PhosphoSite	Q9H2W2.
Polymorphism databases
DMDM	74762734.
Proteomic databases
PaxDb	Q9H2W2.
PRIDE	Q9H2W2.
Protocols and materials databases
DNASU	83881.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000366810; ENSP00000355775; ENSG00000185155.
GeneID	83881.
KEGG	hsa:83881.
UCSC	uc010pvm.2. human.
Organism-specific databases
CTD	83881.
GeneCards	GC01P226411.
HGNC	HGNC:13363. MIXL1.
MIM	609852. gene.
neXtProt	NX_Q9H2W2.
PharmGKB	PA134976348.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG288598.
HOVERGEN	HBG106595.
InParanoid	Q9H2W2.
OrthoDB	EOG4RR6J0.
PhylomeDB	Q9H2W2.
Gene expression databases
ArrayExpress	Q9H2W2.
Bgee	Q9H2W2.
CleanEx	HS_MIXL1.
Genevestigator	Q9H2W2.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR001356. Homeodomain. IPR009057. Homeodomain-like. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	83881.
NextBio	72945.
SOURCE	Search...

Entry information

Entry name

MIXL1_HUMAN

Accession

Primary (citable) accession number: Q9H2W2

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 13, 2007
Last sequence update:	March 1, 2001
Last modified:	May 1, 2013
This is version 110 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.