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Q9H2W2

- MIXL1_HUMAN

UniProt

Q9H2W2 - MIXL1_HUMAN

Protein

Homeobox protein MIXL1

Gene

MIXL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 123 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    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.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi86 – 14560HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. core promoter proximal region sequence-specific DNA binding Source: BHF-UCL
    2. protein homodimerization activity Source: BHF-UCL
    3. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: BHF-UCL
    4. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: BHF-UCL
    5. RNA polymerase II distal enhancer sequence-specific DNA binding Source: BHF-UCL
    6. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: BHF-UCL
    7. RNA polymerase II repressing transcription factor binding Source: BHF-UCL
    8. RNA polymerase II transcription factor binding Source: BHF-UCL
    9. RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription Source: BHF-UCL

    GO - Biological processi

    1. cell migration involved in gastrulation Source: Ensembl
    2. digestive tract development Source: BHF-UCL
    3. endodermal cell differentiation Source: BHF-UCL
    4. endoderm development Source: BHF-UCL
    5. gastrulation Source: BHF-UCL
    6. heart development Source: BHF-UCL
    7. hematopoietic progenitor cell differentiation Source: BHF-UCL
    8. negative regulation of hematopoietic progenitor cell differentiation Source: BHF-UCL
    9. positive regulation of mesoderm development Source: BHF-UCL
    10. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    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 namesi
    Name:MIXL1
    Synonyms:MIXL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:13363. MIXL1.

    Subcellular locationi

    Nucleus 2 PublicationsPROSITE-ProRule annotation

    GO - Cellular componenti

    1. nuclear chromatin Source: BHF-UCL

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134976348.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 232232Homeobox protein MIXL1PRO_0000311333Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei20 – 201Phosphotyrosine1 Publication

    Post-translational modificationi

    Phosphorylated at multiple sites.1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiQ9H2W2.
    PRIDEiQ9H2W2.

    PTM databases

    PhosphoSiteiQ9H2W2.

    Expressioni

    Tissue specificityi

    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).3 Publications

    Gene expression databases

    ArrayExpressiQ9H2W2.
    BgeeiQ9H2W2.
    CleanExiHS_MIXL1.
    GenevestigatoriQ9H2W2.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000355775.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H2W2.
    SMRiQ9H2W2. Positions 86-142.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi31 – 7646Pro-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the paired homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG288598.
    HOVERGENiHBG106595.
    InParanoidiQ9H2W2.
    OMAiVFRRTRY.
    PhylomeDBiQ9H2W2.
    TreeFamiTF334098.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9H2W2-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MATAESRALQ FAEGAAFPAY RAPHAGGALL PPPSPAAALL PAPPAGPGPA    50
    TFAGFLGRDP GPAPPPPASL GSPAPPKGAA APSASQRRKR TSFSAEQLQL 100
    LELVFRRTRY PDIHLRERLA ALTLLPESRI QVWFQNRRAK SRRQSGKSFQ 150
    PLARPEIILN HCAPGTETKC LKPQLPLEVD VNCLPEPNGV GGGISDSSSQ 200
    GQNFETCSPL SEDIGSKLDS WEEHIFSAFG NF 232
    Length:232
    Mass (Da):24,659
    Last modified:March 1, 2001 - v1
    Checksum:i2E8A6A811799A8F0
    GO
    Isoform 2 (identifier: Q9H2W2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         130-130: I → IQLLFSPLF

    Note: No experimental confirmation available.

    Show »
    Length:240
    Mass (Da):25,605
    Checksum:i47F48C68689B0045
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei130 – 1301I → IQLLFSPLF in isoform 2. 1 PublicationVSP_054305

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS1552.1. [Q9H2W2-1]
    CCDS60432.1. [Q9H2W2-2]
    RefSeqiNP_001269331.1. NM_001282402.1. [Q9H2W2-2]
    NP_114150.1. NM_031944.2. [Q9H2W2-1]
    UniGeneiHs.282079.

    Genome annotation databases

    EnsembliENST00000366810; ENSP00000355775; ENSG00000185155. [Q9H2W2-1]
    ENST00000542034; ENSP00000442439; ENSG00000185155. [Q9H2W2-2]
    GeneIDi83881.
    KEGGihsa:83881.
    UCSCiuc010pvm.2. human. [Q9H2W2-1]

    Polymorphism databases

    DMDMi74762734.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS1552.1. [Q9H2W2-1 ]
    CCDS60432.1. [Q9H2W2-2 ]
    RefSeqi NP_001269331.1. NM_001282402.1. [Q9H2W2-2 ]
    NP_114150.1. NM_031944.2. [Q9H2W2-1 ]
    UniGenei Hs.282079.

    3D structure databases

    ProteinModelPortali Q9H2W2.
    SMRi Q9H2W2. Positions 86-142.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000355775.

    PTM databases

    PhosphoSitei Q9H2W2.

    Polymorphism databases

    DMDMi 74762734.

    Proteomic databases

    PaxDbi Q9H2W2.
    PRIDEi Q9H2W2.

    Protocols and materials databases

    DNASUi 83881.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000366810 ; ENSP00000355775 ; ENSG00000185155 . [Q9H2W2-1 ]
    ENST00000542034 ; ENSP00000442439 ; ENSG00000185155 . [Q9H2W2-2 ]
    GeneIDi 83881.
    KEGGi hsa:83881.
    UCSCi uc010pvm.2. human. [Q9H2W2-1 ]

    Organism-specific databases

    CTDi 83881.
    GeneCardsi GC01P226411.
    HGNCi HGNC:13363. MIXL1.
    MIMi 609852. gene.
    neXtProti NX_Q9H2W2.
    PharmGKBi PA134976348.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG288598.
    HOVERGENi HBG106595.
    InParanoidi Q9H2W2.
    OMAi VFRRTRY.
    PhylomeDBi Q9H2W2.
    TreeFami TF334098.

    Miscellaneous databases

    GenomeRNAii 83881.
    NextBioi 35481287.
    PROi Q9H2W2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H2W2.
    Bgeei Q9H2W2.
    CleanExi HS_MIXL1.
    Genevestigatori Q9H2W2.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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. 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.

    Entry informationi

    Entry nameiMIXL1_HUMAN
    AccessioniPrimary (citable) accession number: Q9H2W2
    Secondary accession number(s): B7ZLF9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 13, 2007
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 123 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3