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Aliases for MIXL1 Gene

Aliases for MIXL1 Gene

  • Mix Paired-Like Homeobox 2 3 5
  • MIX1 Homeobox-Like Protein 1 3 4
  • Mix.1 Homeobox-Like Protein 3 4
  • Homeodomain Protein MIX 3 4
  • MIXL 3 4
  • Mix1 Homeobox (Xenopus Laevis)-Like 1 2
  • Mix1 Homeobox-Like 1 (Xenopus Laevis) 2
  • Mix-Like Homeobox Protein 1 3
  • Homeobox Protein MIXL1 3
  • MILD1 3
  • HMix 4
  • MIX 3

External Ids for MIXL1 Gene

Previous GeneCards Identifiers for MIXL1 Gene

  • GC01P222227
  • GC01P222818
  • GC01P223386
  • GC01P222718
  • GC01P224478
  • GC01P226411
  • GC01P196928

Summaries for MIXL1 Gene

Entrez Gene Summary for MIXL1 Gene

  • Homeodomain proteins, such as MIXL1, are transcription factors that regulate cell fate during development (Hart et al., 2005 [PubMed 15982639]).[supplied by OMIM, Mar 2008]

GeneCards Summary for MIXL1 Gene

MIXL1 (Mix Paired-Like Homeobox) is a Protein Coding gene. Diseases associated with MIXL1 include Uterine Inversion. Among its related pathways are Mesodermal Commitment Pathway and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. GO annotations related to this gene include protein homodimerization activity and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is PROP1.

UniProtKB/Swiss-Prot for MIXL1 Gene

  • 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).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIXL1 Gene

Genomics for MIXL1 Gene

Regulatory Elements for MIXL1 Gene

Enhancers for MIXL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G226272 1.1 Ensembl ENCODE 22.3 +49.7 49660 2.3 PKNOX1 ARNT FEZF1 GLI4 ZEB1 TCF12 GLIS2 ZNF366 SCRT2 ZNF202 MIXL1 LIN9 ACBD3 ACBD3-AS1 GC01P226285 GC01P226243
GH01G226126 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11 -95.4 -95414 2.7 ARID4B SIN3A FEZF1 DMAP1 ZNF48 ZNF121 ELK1 ZNF143 FOS ZNF263 H3F3A LIN9 MIXL1 ACBD3 PARP1 PYCR2 ENSG00000270598 GC01P226137
GH01G226121 1.7 Ensembl ENCODE dbSUPER 11.6 -99.9 -99948 5.2 CREB3L1 MLX AGO1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 ZFP41 H3F3A ACBD3-AS1 LINC01703 ACBD3 MIXL1 SDE2 LIN9 ENSG00000270598 GC01P226093
GH01G226100 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -122.7 -122749 1.2 PKNOX1 ATF1 INSM2 FEZF1 ZEB1 ZNF121 FOS CREM ZNF362 ZEB2 ACBD3-AS1 MIXL1 H3F3A SDE2 GC01P226093 ENSG00000270598
GH01G226181 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.1 -41.1 -41070 2.3 HDGF NFIB ARID4B KLF17 NFXL1 ZNF2 RAD21 ZNF121 ZNF143 ETV6 MIXL1 H3F3A RPL34P7 LINC01703 ACBD3 SDE2 ACBD3-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MIXL1 on UCSC Golden Path with GeneCards custom track

Promoters for MIXL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000021085 51 801 FOXA2 MLX ARNT AGO1 ARID4B ZNF48 ZNF143 SP5 PPARG MAFF

Genomic Location for MIXL1 Gene

Chromosome:
1
Start:
226,223,549 bp from pter
End:
226,227,056 bp from pter
Size:
3,508 bases
Orientation:
Plus strand

Genomic View for MIXL1 Gene

Genes around MIXL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIXL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIXL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIXL1 Gene

Proteins for MIXL1 Gene

  • Protein details for MIXL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2W2-MIXL1_HUMAN
    Recommended name:
    Homeobox protein MIXL1
    Protein Accession:
    Q9H2W2
    Secondary Accessions:
    • B7ZLF9

    Protein attributes for MIXL1 Gene

    Size:
    232 amino acids
    Molecular mass:
    24659 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MIXL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MIXL1 Gene

Post-translational modifications for MIXL1 Gene

Other Protein References for MIXL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for MIXL1 Gene

Domains & Families for MIXL1 Gene

Gene Families for MIXL1 Gene

Protein Domains for MIXL1 Gene

Suggested Antigen Peptide Sequences for MIXL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H2W2

UniProtKB/Swiss-Prot:

MIXL1_HUMAN :
  • Belongs to the paired homeobox family.
Family:
  • Belongs to the paired homeobox family.
genes like me logo Genes that share domains with MIXL1: view

Function for MIXL1 Gene

Molecular function for MIXL1 Gene

UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for MIXL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding ISS 22164283
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding ISS 22164283
GO:0000987 core promoter proximal region sequence-specific DNA binding ISS --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding ISS 22164283
GO:0001085 RNA polymerase II transcription factor binding ISS 22164283
genes like me logo Genes that share ontologies with MIXL1: view
genes like me logo Genes that share phenotypes with MIXL1: view

Animal Models for MIXL1 Gene

MGI Knock Outs for MIXL1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MIXL1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MIXL1 Gene

Localization for MIXL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIXL1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MIXL1 gene
Compartment Confidence
nucleus 5
extracellular 2
plasma membrane 1
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MIXL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISS --
GO:0005634 nucleus IEA,IDA --
genes like me logo Genes that share ontologies with MIXL1: view

Pathways & Interactions for MIXL1 Gene

genes like me logo Genes that share pathways with MIXL1: view

Gene Ontology (GO) - Biological Process for MIXL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001706 endoderm formation IEA --
GO:0002244 hematopoietic progenitor cell differentiation ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with MIXL1: view

No data available for SIGNOR curated interactions for MIXL1 Gene

Transcripts for MIXL1 Gene

mRNA/cDNA for MIXL1 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MIXL1 Gene

Mix paired-like homeobox:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MIXL1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MIXL1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b
SP1:
SP2:

Relevant External Links for MIXL1 Gene

GeneLoc Exon Structure for
MIXL1
ECgene alternative splicing isoforms for
MIXL1

Expression for MIXL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MIXL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MIXL1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.4), Spleen (x5.9), and Brain - Cerebellum (x4.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MIXL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of MIXL1 Gene:

MIXL1

SOURCE GeneReport for Unigene cluster for MIXL1 Gene:

Hs.282079

mRNA Expression by UniProt/SwissProt for MIXL1 Gene:

Q9H2W2-MIXL1_HUMAN
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).

Evidence on tissue expression from TISSUES for MIXL1 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with MIXL1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MIXL1 Gene

Orthologs for MIXL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MIXL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MIXL1 34 35
  • 86.28 (n)
cow
(Bos Taurus)
Mammalia MIXL1 34 35
  • 85.71 (n)
mouse
(Mus musculus)
Mammalia Mixl1 34 16 35
  • 74.64 (n)
oppossum
(Monodelphis domestica)
Mammalia MIXL1 35
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MIXL1 35
  • 51 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MIXL1 35
  • 25 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MIXL1 35
  • 29 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii bon 35 35
  • 19 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta repo 35
  • 8 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-54 35
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 18 (a)
OneToMany
-- 35
  • 15 (a)
OneToMany
Species where no ortholog for MIXL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MIXL1 Gene

ENSEMBL:
Gene Tree for MIXL1 (if available)
TreeFam:
Gene Tree for MIXL1 (if available)

Paralogs for MIXL1 Gene

Paralogs for MIXL1 Gene

(2) SIMAP similar genes for MIXL1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MIXL1: view

Variants for MIXL1 Gene

Sequence variations from dbSNP and Humsavar for MIXL1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000370810 -- 226,221,620(+) GCTCA(C/T)TGCAA upstream-variant-2KB
rs1000995714 -- 226,221,872(+) CTGAG(C/T)AGCTG upstream-variant-2KB
rs1001495271 -- 226,221,925(+) TTGTA(G/T)TTTTA upstream-variant-2KB
rs1001642615 -- 226,222,575(+) TCTCT(C/T)GAGTT upstream-variant-2KB
rs1001716258 -- 226,222,173(+) CAAGA(A/G)AAGAG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for MIXL1 Gene

Variant ID Type Subtype PubMed ID
esv3589011 CNV gain 21293372
nsv1069329 CNV deletion 25765185
nsv517107 CNV gain+loss 19592680
nsv832759 CNV loss 17160897

Variation tolerance for MIXL1 Gene

Residual Variation Intolerance Score: 59% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.33; 41.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MIXL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIXL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MIXL1 Gene

Disorders for MIXL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MIXL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
uterine inversion
  • inversion of uterus during delivery
- elite association - COSMIC cancer census association via MalaCards
Search MIXL1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MIXL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MIXL1
genes like me logo Genes that share disorders with MIXL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MIXL1 Gene

Publications for MIXL1 Gene

  1. A human Mix-like homeobox gene MIXL shows functional similarity to Xenopus Mix.1. (PMID: 12070013) Guo W. … Nagarajan L. (Blood 2002) 2 3 4 64
  2. Differential expression of the human MIXL1 gene product in non- Hodgkin and Hodgkin lymphomas. (PMID: 17303500) Drakos E. … Nagarajan L. (Hum. Pathol. 2007) 3 4 64
  3. Structure, upstream promoter region, and functional domains of a mouse and human Mix paired-like homeobox gene. (PMID: 12095687) Sahr K. … Baron M.H. (Gene 2002) 2 3 64
  4. Mixl1 and Flk1 Are Key Players of Wnt/TGF-I^ Signaling During DMSO-Induced Mesodermal Specification in P19 cells. (PMID: 25521758) Choi S.C. … Lim D.S. (J. Cell. Physiol. 2015) 3 64
  5. A role for BMP-induced homeobox gene MIXL1 in acute myelogenous leukemia and identification of type I BMP receptor as a potential target for therapy. (PMID: 25544748) Raymond A. … Nagarajan L. (Oncotarget 2014) 3 64

Products for MIXL1 Gene

Sources for MIXL1 Gene

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