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MEOX1 mesenchyme homeobox 1 [ Homo sapiens (human) ]

Gene ID: 4222, updated on 23-Mar-2024

Summary

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Official Symbol
MEOX1provided by HGNC
Official Full Name
mesenchyme homeobox 1provided by HGNC
Primary source
HGNC:HGNC:7013
See related
Ensembl:ENSG00000005102 MIM:600147; AllianceGenome:HGNC:7013
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KFS2; MOX1
Summary
This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the molecular signaling network regulating somite development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Expression
Biased expression in fat (RPKM 15.6), heart (RPKM 8.2) and 11 other tissues See more
Orthologs
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Genomic context

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Location:
17q21.31
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (43640389..43661922, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44492923..44514459, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41717757..41739290, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene DEAH-box helicase 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41605963-41606504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41617770-41618270 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:41622297-41623074 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41623075-41623852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12244 Neighboring gene ETS variant transcription factor 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41632016-41632516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12245 Neighboring gene Sharpr-MPRA regulatory region 2376 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41656377-41656994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41669551-41670050 Neighboring gene uncharacterized LOC124904008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41705361-41705862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41729461-41729960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41738043-41738584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41743014-41743539 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41745859-41746358 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41746933-41747456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41747457-41747978 Neighboring gene long intergenic non-protein coding RNA 2594 Neighboring gene uncharacterized LOC107985085 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41754903-41755667 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41767960-41768460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41768461-41768961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41779239-41780108 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8563 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:41795928-41796532 Neighboring gene Wolf-Hirschhorn syndrome candidate 1-like 2, pseudogene

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. Mesenchyme homeobox 1 mediated-promotion of osteoblastic differentiation is negatively regulated by mir-3064-5p. Huang M, et al. Differentiation, 2021 Jul-Aug. PMID 34130045
  2. MEOX1 Promotes Tumor Progression and Predicts Poor Prognosis in Human Non-Small-Cell Lung Cancer. Sun L, et al. Int J Med Sci, 2019. PMID 30662330, Free PMC Article
  3. Novel cancer stem cell targets during epithelial to mesenchymal transition in PTEN-deficient trastuzumab-resistant breast cancer. Sun L, et al. Oncotarget, 2016 Aug 9. PMID 27285982, Free PMC Article
  4. Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype. Bayrakli F, et al. BMC Genet, 2013 Sep 28. PMID 24073994, Free PMC Article
  5. Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. Mohamed JY, et al. Am J Hum Genet, 2013 Jan 10. PMID 23290072, Free PMC Article

See all (42) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Unraveling the molecular mechanisms of lymph node metastasis in ovarian cancer: focus on MEOX1.
    Title: Unraveling the molecular mechanisms of lymph node metastasis in ovarian cancer: focus on MEOX1.
  2. Identification of the novel FOXP3-dependent Treg cell transcription factor MEOX1 by high-dimensional analysis of human CD4[+] T cells.
    Title: Identification of the novel FOXP3-dependent T(reg) cell transcription factor MEOX1 by high-dimensional analysis of human CD4(+) T cells.
  3. MEOX1 suppresses the progression of lung cancer cells by inhibiting the cell-cycle checkpoint gene CCNB1.
    Title: MEOX1 suppresses the progression of lung cancer cells by inhibiting the cell-cycle checkpoint gene CCNB1.
  4. A transcriptional switch governs fibroblast activation in heart disease.
    Title: A transcriptional switch governs fibroblast activation in heart disease.
  5. Characterization of the proteome and metabolome of human liver sinusoidal endothelial-like cells derived from induced pluripotent stem cells.
    Title: Characterization of the proteome and metabolome of human liver sinusoidal endothelial-like cells derived from induced pluripotent stem cells.
  6. Mesenchyme homeobox 1 mediated-promotion of osteoblastic differentiation is negatively regulated by mir-3064-5p.
    Title: Mesenchyme homeobox 1 mediated-promotion of osteoblastic differentiation is negatively regulated by mir-3064-5p.
  7. Expression quantitative trait loci for ETV4 and MEOX1 are associated with adult asthma in Japanese populations.
    Title: Expression quantitative trait loci for ETV4 and MEOX1 are associated with adult asthma in Japanese populations.
  8. Combined p53- and PTEN-deficiency activates expression of mesenchyme homeobox 1 (MEOX1) required for growth of triple-negative breast cancer.
    Title: Combined p53- and PTEN-deficiency activates expression of mesenchyme homeobox 1 (MEOX1) required for growth of triple-negative breast cancer.
  9. The expression of Meox1 protein in the scar tissue was significantly higher than that in normal skin of patients with hypertrophic scars.
    Title: [Mechanism of transcriptional regulation of Meox1 by transforming growth factor β (1) and its effect on cell migration of adult human dermal fibroblasts].
  10. high levels of MEOX1 especially nuclear staining was an independent prognostic factor for non-small-cell lung cancer
    Title: MEOX1 Promotes Tumor Progression and Predicts Poor Prognosis in Human Non-Small-Cell Lung Cancer.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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

Associated conditions

Description Tests
Klippel-Feil syndrome 2, autosomal recessive
MedGen: C1859209 OMIM: 214300 GeneReviews: Not available
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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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
  
enables DNA-binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
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 HMG box domain binding IEA
Inferred from Electronic Annotation
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables chromatin binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in hematopoietic stem cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sclerotome development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in somite development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in somite development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in somite specification IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
homeobox protein MOX-1

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.

Genomic

  1. NG_032987.1 RefSeqGene

    Range
    4973..26506
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_708

mRNA and Protein(s)

  1. NM_001040002.2 → NP_001035091.1  homeobox protein MOX-1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding region (compared to variant 1), resulting in a protein that maintains the reading frame but is shorter at the N- terminus, compared to isoform 1.
    Source sequence(s)
    AC004149, AW410297, BE898972, BQ003431, BQ028272, BX284090, U10492
    Consensus CDS
    CCDS42343.1
    UniProtKB/Swiss-Prot
    P50221
    Related
    ENSP00000377271.2, ENST00000393661.2
    Conserved Domains (1) summary
    pfam00046
    Location:60 → 112
    Homeobox; Homeobox domain

  2. NM_004527.4 → NP_004518.1  homeobox protein MOX-1 isoform 1

    See identical proteins and their annotated locations for NP_004518.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC004149, BG677020, BQ028272, U10492
    Consensus CDS
    CCDS11466.1
    UniProtKB/Swiss-Prot
    A8K524, A8MWF9, P50221, Q15069
    Related
    ENSP00000321684.4, ENST00000318579.9
    Conserved Domains (1) summary
    pfam00046
    Location:175 → 227
    Homeobox; Homeobox domain

  3. NM_013999.4 → NP_054705.1  homeobox protein MOX-1 isoform 2

    See identical proteins and their annotated locations for NP_054705.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region that results in a frameshift and a premature stop codon compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC004149, BG677020, BQ028272, U10493
    Consensus CDS
    CCDS11467.1
    UniProtKB/Swiss-Prot
    P50221
    Related
    ENSP00000449049.2, ENST00000549132.2

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    43640389..43661922 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524818.3 → XP_011523120.1  homeobox protein MOX-1 isoform X1

    Conserved Domains (1) summary
    pfam00046
    Location:175 → 216
    Homeobox; Homeobox domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    44492923..44514459 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316158.1 → XP_054172133.1  homeobox protein MOX-1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P50221.1 GenPept UniProtKB/Swiss-Prot:P50221

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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