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

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; 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; negative regulation of 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, Dec 2024]
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

Location:: 1q42.12

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (226223664..226227060)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (225411532..225414928)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (226411365..226414761)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
shows functional similarity to Xenopus Mix.1
Title: A human Mix-like homeobox gene MIXL shows functional similarity to Xenopus Mix.1.
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.

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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)

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

General gene information

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Markers

MIXL1_2694 (e-PCR)
- UniSTS:471669

NoName (e-PCR)
- UniSTS:483447

NoName (e-PCR)
- UniSTS:480967

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
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in 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)

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
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