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Q9H2W2

- MIXL1_HUMAN

UniProt

Q9H2W2 - MIXL1_HUMAN

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Protein

Homeobox protein MIXL1

Gene

MIXL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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

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.
GeneTreeiENSGT00760000119319.
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

        10         20         30         40         50
MATAESRALQ FAEGAAFPAY RAPHAGGALL PPPSPAAALL PAPPAGPGPA
60 70 80 90 100
TFAGFLGRDP GPAPPPPASL GSPAPPKGAA APSASQRRKR TSFSAEQLQL
110 120 130 140 150
LELVFRRTRY PDIHLRERLA ALTLLPESRI QVWFQNRRAK SRRQSGKSFQ
160 170 180 190 200
PLARPEIILN HCAPGTETKC LKPQLPLEVD VNCLPEPNGV GGGISDSSSQ
210 220 230
GQNFETCSPL SEDIGSKLDS WEEHIFSAFG NF
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.
GeneTreei ENSGT00760000119319.
HOVERGENi HBG106595.
InParanoidi Q9H2W2.
OMAi VFRRTRY.
PhylomeDBi Q9H2W2.
TreeFami TF334098.

Miscellaneous databases

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

Gene expression databases

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

« Hide 'large scale' publications
  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 29, 2014
This is version 124 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