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Q9H2W2 (MIXL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 121. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length232 AA.
Sequence statusComplete.
Protein existenceEvidence 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 processDifferentiation
Transcription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
   DomainHomeobox
   LigandDNA-binding
   Molecular functionDevelopmental protein
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell migration involved in gastrulation

Inferred from electronic annotation. Source: Ensembl

digestive tract development

Inferred from sequence or structural similarity. Source: BHF-UCL

endoderm development

Inferred from sequence or structural similarity. Source: BHF-UCL

endodermal cell differentiation

Inferred from sequence or structural similarity. Source: BHF-UCL

gastrulation

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

positive regulation of transcription from RNA polymerase II promoter

Inferred from sequence or structural similarity PubMed 22164283. Source: BHF-UCL

   Cellular_componentnuclear chromatin

Inferred from sequence or structural similarity. Source: BHF-UCL

   Molecular_functionRNA 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 repressing transcription factor binding

Inferred from physical interaction 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

core promoter proximal region sequence-specific DNA binding

Inferred from sequence or structural similarity. Source: BHF-UCL

protein homodimerization activity

Inferred from sequence or structural similarity PubMed 22164283. Source: BHF-UCL

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H2W2-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9H2W2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     130-130: I → IQLLFSPLF
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 232232Homeobox protein MIXL1
PRO_0000311333

Regions

DNA binding86 – 14560Homeobox
Compositional bias31 – 7646Pro-rich

Amino acid modifications

Modified residue201Phosphotyrosine Ref.7

Natural variations

Alternative sequence1301I → IQLLFSPLF in isoform 2.
VSP_054305

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: 2E8A6A811799A8F0

FASTA23224,659
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 47F48C68689B0045
Show »

FASTA24025,605

References

« Hide '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] (ISOFORM 1), 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. expand/collapse author list , 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. expand/collapse author list , 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] (ISOFORMS 1 AND 2).
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.
+Additional computationally mapped references.

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.
BC143784 mRNA. Translation: AAI43785.1.
CCDSCCDS1552.1.
RefSeqNP_001269331.1. NM_001282402.1. [Q9H2W2-2]
NP_114150.1. NM_031944.2. [Q9H2W2-1]
UniGeneHs.282079.

3D structure databases

ProteinModelPortalQ9H2W2.
SMRQ9H2W2. Positions 86-142.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000355775.

PTM databases

PhosphoSiteQ9H2W2.

Polymorphism databases

DMDM74762734.

Proteomic databases

PaxDbQ9H2W2.
PRIDEQ9H2W2.

Protocols and materials databases

DNASU83881.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000366810; ENSP00000355775; ENSG00000185155.
ENST00000542034; ENSP00000442439; ENSG00000185155.
GeneID83881.
KEGGhsa:83881.
UCSCuc010pvm.2. human. [Q9H2W2-1]

Organism-specific databases

CTD83881.
GeneCardsGC01P226411.
HGNCHGNC:13363. MIXL1.
MIM609852. gene.
neXtProtNX_Q9H2W2.
PharmGKBPA134976348.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG288598.
HOVERGENHBG106595.
InParanoidQ9H2W2.
OMAVFRRTRY.
PhylomeDBQ9H2W2.
TreeFamTF334098.

Gene expression databases

ArrayExpressQ9H2W2.
BgeeQ9H2W2.
CleanExHS_MIXL1.
GenevestigatorQ9H2W2.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi83881.
NextBio35481287.
PROQ9H2W2.
SOURCESearch...

Entry information

Entry nameMIXL1_HUMAN
AccessionPrimary (citable) accession number: Q9H2W2
Secondary accession number(s): B7ZLF9
Entry history
Integrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 121 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM