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] See more...

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
  • Homeobox Protein MIXL1 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
  • 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 and Retinitis Pigmentosa 14. Among its related pathways are Cardiac Progenitor Differentiation and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific. An important paralog of this gene is DUX4.

UniProtKB/Swiss-Prot Summary 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).

Additional gene information for MIXL1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MIXL1 Gene

Genomics for MIXL1 Gene

GeneHancer (GH) Regulatory Elements for MIXL1 Gene

Promoters and enhancers for MIXL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MIXL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MIXL1 gene promoter:
  • C/EBPbeta
  • CUTL1
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • POU6F1 (c2)
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for MIXL1 Gene

Genomic Locations for MIXL1 Gene
chr1:226,223,549-226,227,056
(GRCh38/hg38)
Size:
3,508 bases
Orientation:
Plus strand
chr1:226,411,319-226,414,755
(GRCh37/hg19)
Size:
3,437 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:

No data available for DME Specific Peptides for MIXL1 Gene

Domains & Families for MIXL1 Gene

Gene Families for MIXL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for MIXL1 Gene

Suggested Antigen Peptide Sequences for MIXL1 Gene

GenScript: Design optimal peptide antigens:
  • Mix.1 homeobox-like protein (MIXL1_HUMAN)

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 proximal promoter sequence-specific DNA binding ISS 22164283
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding ISS,IBA 22164283
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0000987 proximal promoter sequence-specific DNA binding ISS --
GO:0001085 RNA polymerase II transcription factor binding ISS,IBA 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MIXL1

Clone Products

  • Addgene plasmids for MIXL1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
plasma membrane 1
extracellular 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MIXL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISS --
GO:0005634 nucleus IDA,IBA --
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:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0007369 gastrulation ISS --
genes like me logo Genes that share ontologies with MIXL1: view

No data available for SIGNOR curated interactions for MIXL1 Gene

Drugs & Compounds for MIXL1 Gene

No Compound Related Data Available

Transcripts for MIXL1 Gene

mRNA/cDNA for MIXL1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MIXL1

Clone Products

  • Addgene plasmids for MIXL1

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 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

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 33 32
  • 86.28 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MIXL1 33 32
  • 85.71 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mixl1 17 33 32
  • 74.64 (n)
oppossum
(Monodelphis domestica)
Mammalia MIXL1 33
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MIXL1 33
  • 51 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MIXL1 33
  • 25 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MIXL1 33
  • 29 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii bon 33 33
  • 19 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta repo 33
  • 8 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-54 33
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 18 (a)
OneToMany
-- 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MIXL1: view image

Paralogs for MIXL1 Gene

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

  • MIXL1_HUMAN
  • B7ZLF9_HUMAN
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 Variation AA Info Type
rs1000995714 -- 226,221,872(+) T/C upstream_transcript_variant
rs1001495271 -- 226,221,925(+) T/G upstream_transcript_variant
rs1001642615 -- 226,222,575(+) T/C upstream_transcript_variant
rs1001716258 -- 226,222,173(+) G/A upstream_transcript_variant
rs1003169200 -- 226,223,395(+) G/A upstream_transcript_variant

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)

Additional Variant Information for MIXL1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MIXL1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MIXL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
uterine inversion
  • inversion of uterus during delivery
retinitis pigmentosa 14
  • rp14
- elite association - COSMIC cancer census association via MalaCards
Search MIXL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 56
  2. Differential expression of the human MIXL1 gene product in non-Hodgkin and Hodgkin lymphomas. (PMID: 17303500) Drakos E … Nagarajan L (Human pathology 2007) 3 4 56
  3. Structure, upstream promoter region, and functional domains of a mouse and human Mix paired-like homeobox gene. (PMID: 12095687) Sahr K … Baron MH (Gene 2002) 2 3 56
  4. Mixl1 and Flk1 Are Key Players of Wnt/TGF-β Signaling During DMSO-Induced Mesodermal Specification in P19 cells. (PMID: 25521758) Choi SC … Lim DS (Journal of cellular physiology 2015) 3 56
  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 56

Products for MIXL1 Gene

Sources for MIXL1 Gene