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MIXL1 Mix paired-like homeobox [ Homo sapiens (human) ]

Gene ID: 83881, updated on 5-Mar-2024

Summary

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Official Symbol
MIXL1provided by HGNC
Official Full Name
Mix paired-like homeoboxprovided by HGNC
Primary source
HGNC:HGNC:13363
See related
Ensembl:ENSG00000185155 MIM:609852; AllianceGenome:HGNC:13363
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MIX; MIXL; MILD1
Summary
Enables RNA polymerase II-specific DNA-binding transcription factor binding activity and sequence-specific double-stranded DNA binding activity. Predicted to be involved in several processes, including endodermal cell differentiation; hematopoietic progenitor cell differentiation; and positive regulation of mesoderm development. Predicted to act upstream of or within cell migration involved in gastrulation and hemopoiesis. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in lymph node (RPKM 1.1), urinary bladder (RPKM 0.8) and 11 other tissues See more
Orthologs
mouse all
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Genomic context

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See MIXL1 in Genome Data Viewer
Location:
1q42.12
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (226223664..226227060)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (225411532..225414928)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (226411365..226414761)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927247 Neighboring gene ribosomal protein L34 pseudogene 7 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:226391149-226391650 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:226398175-226398896 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226402654-226403619 Neighboring gene uncharacterized LOC124904528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2647 Neighboring gene Sharpr-MPRA regulatory region 4175 Neighboring gene lin-9 DREAM MuvB core complex component Neighboring gene small nucleolar RNA U13 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226495998-226496764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1882 Neighboring gene small nucleolar RNA U13

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. 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. Raymond A, et al. Oncotarget, 2014 Dec 30. PMID 25544748, Free PMC Article
  2. Targeting a GFP reporter gene to the MIXL1 locus of human embryonic stem cells identifies human primitive streak-like cells and enables isolation of primitive hematopoietic precursors. Davis RP, et al. Blood, 2008 Feb 15. PMID 18032708
  3. Differential expression of the human MIXL1 gene product in non-Hodgkin and Hodgkin lymphomas. Drakos E, et al. Hum Pathol, 2007 Mar. PMID 17303500
  4. A human Mix-like homeobox gene MIXL shows functional similarity to Xenopus Mix.1. Guo W, et al. Blood, 2002 Jul 1. PMID 12070013
  5. Mixl1 and Flk1 Are Key Players of Wnt/TGF-β Signaling During DMSO-Induced Mesodermal Specification in P19 cells. Choi SC, et al. J Cell Physiol, 2015 Aug. PMID 25521758

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Findings support the existence of a novel MIXL1-c REL mediated survival axis in AML that can be targeted by BMPR1 inhibitors. (MIXL1- human gene, Mixl1- mouse ortholog, MIXL1- protein).
    Title: 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.
  2. results demonstrate that Mixl1 and Flk1 play roles...during dimethyl sulfoxide-induced mesodermal specification in P19 cells.
    Title: Mixl1 and Flk1 Are Key Players of Wnt/TGF-β Signaling During DMSO-Induced Mesodermal Specification in P19 cells.
  3. Brachyury and related Tbx proteins interact with the Mixl1 homeodomain protein and negatively regulate Mixl1 transcriptional activity
    Title: Brachyury and related Tbx proteins interact with the Mixl1 homeodomain protein and negatively regulate Mixl1 transcriptional activity.
  4. Targeted insertion in human embryonic stem cells of sequences encoding green fluorescent protein (GFP) into the locus of MIXL1, a gene transiently expressed in the primitive streak during embryogenesis.
    Title: Targeting a GFP reporter gene to the MIXL1 locus of human embryonic stem cells identifies human primitive streak-like cells and enables isolation of primitive hematopoietic precursors.
  5. These results demonstrate for a functional role for TGF-beta ligands in regulation of mammalian Mixl1, identify FoxH1 as an essential co-activator, and implicate Nodal as the embryonic regulator of Mixl1 in mesendoderm morphogenesis.
    Title: Transcriptional regulation of the homeobox gene Mixl1 by TGF-beta and FoxH1.
  6. shows functional similarity to Xenopus Mix.1
    Title: A human Mix-like homeobox gene MIXL shows functional similarity to Xenopus Mix.1.
  7. MIXL1 protein is differentially expressed in non-Hodgkin lymphoma and Hodgkin lymphoma; findings suggest that MIXL1 overexpression may play a role in driving proliferatin or blocking differentiation in lymphoma oncogenesis
    Title: Differential expression of the human MIXL1 gene product in non-Hodgkin and Hodgkin lymphomas.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of Mix paired-like homeobox (MIXL1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Tat tat Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides downregulate gene expression of Mix paired-like homeobox (MIXL1) in U-937 macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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General gene information

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Markers

Homology

Clone Names

  • MGC138179

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables RNA polymerase II-specific DNA-binding transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables cis-regulatory region sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell migration involved in gastrulation IEA
Inferred from Electronic Annotation
more info
  
involved_in digestive tract development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in endoderm development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in endoderm formation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endodermal cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in gastrulation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in heart development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in hematopoietic progenitor cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of hematopoietic progenitor cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of mesoderm development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
part_of chromatin ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
homeobox protein MIXL1
Names
MIX1 homeobox-like protein 1
Mix-like homeobox protein 1
homeodomain protein MIX
mix.1 homeobox-like protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001282402.2 → NP_001269331.1  homeobox protein MIXL1 isoform 1

    See identical proteins and their annotated locations for NP_001269331.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL592045, BC143784, CX165667
    Consensus CDS
    CCDS60432.1
    UniProtKB/Swiss-Prot
    Q9H2W2
    Related
    ENSP00000442439.1, ENST00000542034.5
    Conserved Domains (1) summary
    pfam00046
    Location:89 → 150
    Homeobox; Homeobox domain

  2. NM_031944.3 → NP_114150.1  homeobox protein MIXL1 isoform 2

    See identical proteins and their annotated locations for NP_114150.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AL592045, BC111974, CX165667
    Consensus CDS
    CCDS1552.1
    UniProtKB/Swiss-Prot
    B7ZLF9, Q9H2W2
    Related
    ENSP00000355775.4, ENST00000366810.6
    Conserved Domains (1) summary
    pfam00046
    Location:89 → 142
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    226223664..226227060
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    225411532..225414928
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H2W2.1 GenPept UniProtKB/Swiss-Prot:Q9H2W2

Gene LinkOut

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