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

    Gene ID: 83881, updated on 17-Jun-2019

    Summary

    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
    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
    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]
    Expression
    Biased expression in lymph node (RPKM 1.1), urinary bladder (RPKM 0.8) and 11 other tissues See more
    Orthologs

    Genomic context

    See MIXL1 in Genome Data Viewer
    Location:
    1q42.12
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (226223664..226227060)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (226411325..226414756)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ACBD3 antisense RNA 1 Neighboring gene acyl-CoA binding domain containing 3 Neighboring gene uncharacterized LOC101927247 Neighboring gene ribosomal protein L34 pseudogene 7 Neighboring gene lin-9 DREAM MuvB core complex component Neighboring gene Y-box binding protein 1 pseudogene 9

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    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 BioSystems

    • Adipogenesis, organism-specific biosystem (from WikiPathways)
      Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
    • Cardiac Progenitor Differentiation, organism-specific biosystem (from WikiPathways)
      Cardiac Progenitor Differentiation, organism-specific biosystemFactors involved in the induction of cardiac differentiation in vitro and in vivo. This model was based on the below two review articles.
    • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
      Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
    • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
      Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...

    General gene information

    Markers

    Homology

    Clone Names

    • MGC138179

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA-binding transcription activator activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    DNA-binding transcription factor activity, RNA polymerase II-specific ISM
    Inferred from Sequence Model
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific NAS
    Non-traceable Author Statement
    more info
    PubMed 
    RNA polymerase II distal enhancer sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    RNA polymerase II distal enhancer sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    RNA polymerase II proximal promoter sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    RNA polymerase II proximal promoter sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    RNA polymerase II repressing transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    RNA polymerase II transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    RNA polymerase II transcription factor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    proximal promoter sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    cell migration involved in gastrulation IEA
    Inferred from Electronic Annotation
    more info
     
    digestive tract development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endoderm development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endodermal cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    gastrulation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    hematopoietic progenitor cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of hematopoietic progenitor cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of mesoderm development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Component Evidence Code Pubs
    nuclear chromatin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    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)

    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_001282402.2NP_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:89150
      Homeobox; Homeobox domain
    2. NM_031944.3NP_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
      Q9H2W2
      UniProtKB/TrEMBL
      A0A024R3T7
      Related
      ENSP00000355775.4, ENST00000366810.5
      Conserved Domains (1) summary
      pfam00046
      Location:89142
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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