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MKX mohawk homeobox [ Homo sapiens (human) ]

Gene ID: 283078, updated on 27-Nov-2024

Summary

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Official Symbol
MKXprovided by HGNC
Official Full Name
mohawk homeoboxprovided by HGNC
Primary source
HGNC:HGNC:23729
See related
Ensembl:ENSG00000150051 MIM:601332; AllianceGenome:HGNC:23729
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
IFRX; IRXL1; C10orf48
Summary
The protein encoded by this gene is an IRX family-related homeobox protein that may play a role in cell adhesion. Studies in mice suggest that this protein may be a regulator of tendon development. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jun 2011]
Expression
Biased expression in prostate (RPKM 5.8), ovary (RPKM 4.5) and 13 other tissues See more
Orthologs
mouse all
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Genomic context

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See MKX in Genome Data Viewer
Location:
10p12.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (27672874..27745819, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (27703607..27776565, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (27961803..28034748, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902399 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:27812349-27812850 Neighboring gene RAB18, member RAS oncogene family Neighboring gene long intergenic non-protein coding RNA 2680 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:27888237-27888738 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:28023032-28024231 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2247 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3189 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:28034239-28034829 Neighboring gene MKX antisense RNA 1 Neighboring gene RN7SK pseudogene 132 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_12116 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:28146458-28147081 Neighboring gene outer dynein arm docking complex subunit 2 Neighboring gene ribosomal protein L36a pseudogene 55

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. Mohawk is a transcription factor that promotes meniscus cell phenotype and tissue repair and reduces osteoarthritis severity. Lee KI, et al. Sci Transl Med, 2020 Oct 28. PMID 33115953, Free PMC Article
  2. In silico characterization of an Iroquois family-related homeodomain protein. Weinmann A, et al. Int J Mol Med, 2005 Sep. PMID 16077953
  3. Transcription factor Mohawk controls tenogenic differentiation of bone marrow mesenchymal stem cells in vitro and in vivo. Otabe K, et al. J Orthop Res, 2015 Jan. PMID 25312837, Free PMC Article
  4. Transcription factor Mohawk and the pathogenesis of human anterior cruciate ligament degradation. Nakahara H, et al. Arthritis Rheum, 2013 Aug. PMID 23686683, Free PMC Article
  5. COBL, MKX and MYOC Are Potential Regulators of Brown Adipose Tissue Development Associated with Obesity-Related Metabolic Dysfunction in Children. Abdul Majeed S, et al. Int J Mol Sci, 2023 Feb 4. PMID 36834493, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. COBL, MKX and MYOC Are Potential Regulators of Brown Adipose Tissue Development Associated with Obesity-Related Metabolic Dysfunction in Children.
    Title: COBL, MKX and MYOC Are Potential Regulators of Brown Adipose Tissue Development Associated with Obesity-Related Metabolic Dysfunction in Children.
  2. Mohawk is a transcription factor that promotes meniscus cell phenotype and tissue repair and reduces osteoarthritis severity.
    Title: Mohawk is a transcription factor that promotes meniscus cell phenotype and tissue repair and reduces osteoarthritis severity.
  3. Data show that homeobox protein Mohawk (Mkx) is mainly expressed in the outer annulus fibrosus (OAF) of humans and mice.
    Title: Mohawk promotes the maintenance and regeneration of the outer annulus fibrosus of intervertebral discs.
  4. these data shed light on previously unrecognized roles of Mkx in tendinopathy, tenogenesis, and tendon repair as well as in regulating the TGFbeta pathway.
    Title: Mohawk promotes the tenogenesis of mesenchymal stem cells through activation of the TGFβ signaling pathway.
  5. Transcription factor Mohawk controls tenogenic differentiation of bone marrow mesenchymal stem cells in vitro and in vivo.
    Title: Transcription factor Mohawk controls tenogenic differentiation of bone marrow mesenchymal stem cells in vitro and in vivo.
  6. Reduced expression of MKX is a feature of degenerated anterior cruciate ligament in osteoarthritis-affected joints.
    Title: Transcription factor Mohawk and the pathogenesis of human anterior cruciate ligament degradation.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
  8. In silico characterization of the C10orf48 sequence
    Title: In silico characterization of an Iroquois family-related homeodomain protein.
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

EBI GWAS Catalog

Description
Genome-wide association study of antibody response to smallpox vaccine.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC39616

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
  
Process Evidence Code Pubs
involved_in cell development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in muscle organ development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in muscle organ development 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
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
homeobox protein Mohawk
Names
Iroquois family related homeodomain protein
iroquois homeobox protein-like 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_029181.1 RefSeqGene

    Range
    5031..77976
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001242702.2 → NP_001229631.1  homeobox protein Mohawk

    See identical proteins and their annotated locations for NP_001229631.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC024606, AK125339, AW020078, BC036207
    Consensus CDS
    CCDS7156.1
    UniProtKB/Swiss-Prot
    B3KWM5, Q8IYA7
    Related
    ENSP00000364946.4, ENST00000375790.9
    Conserved Domains (1) summary
    pfam05920
    Location:88 → 127
    Homeobox_KN; Homeobox KN domain

  2. NM_173576.3 → NP_775847.2  homeobox protein Mohawk

    See identical proteins and their annotated locations for NP_775847.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC024606, AW020078, BC036207, DB285243
    Consensus CDS
    CCDS7156.1
    UniProtKB/Swiss-Prot
    B3KWM5, Q8IYA7
    Related
    ENSP00000400896.1, ENST00000419761.6
    Conserved Domains (1) summary
    pfam05920
    Location:88 → 127
    Homeobox_KN; Homeobox KN domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    27672874..27745819 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017016108.2 → XP_016871597.1  homeobox protein Mohawk isoform X3

    UniProtKB/TrEMBL
    H0YKC7
    Conserved Domains (1) summary
    pfam05920
    Location:88 → 127
    Homeobox_KN; Homeobox KN domain

  2. XM_047425119.1 → XP_047281075.1  homeobox protein Mohawk isoform X3

  3. XM_047425117.1 → XP_047281073.1  homeobox protein Mohawk isoform X1

    UniProtKB/Swiss-Prot
    B3KWM5, Q8IYA7

  4. XM_017016105.2 → XP_016871594.1  homeobox protein Mohawk isoform X1

    UniProtKB/Swiss-Prot
    B3KWM5, Q8IYA7
    Conserved Domains (1) summary
    pfam05920
    Location:88 → 127
    Homeobox_KN; Homeobox KN domain

  5. XM_017016106.2 → XP_016871595.1  homeobox protein Mohawk isoform X1

    UniProtKB/Swiss-Prot
    B3KWM5, Q8IYA7
    Conserved Domains (1) summary
    pfam05920
    Location:88 → 127
    Homeobox_KN; Homeobox KN domain

  6. XM_017016107.2 → XP_016871596.1  homeobox protein Mohawk isoform X2

    UniProtKB/TrEMBL
    H0YKC7
    Related
    ENSP00000452751.1, ENST00000460919.2
    Conserved Domains (1) summary
    pfam05920
    Location:88 → 127
    Homeobox_KN; Homeobox KN domain

  7. XM_047425118.1 → XP_047281074.1  homeobox protein Mohawk isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    27703607..27776565 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054365661.1 → XP_054221636.1  homeobox protein Mohawk isoform X3

  2. XM_054365662.1 → XP_054221637.1  homeobox protein Mohawk isoform X3

  3. XM_054365657.1 → XP_054221632.1  homeobox protein Mohawk isoform X1

    UniProtKB/Swiss-Prot
    B3KWM5, Q8IYA7

  4. XM_054365656.1 → XP_054221631.1  homeobox protein Mohawk isoform X1

    UniProtKB/Swiss-Prot
    B3KWM5, Q8IYA7

  5. XM_054365658.1 → XP_054221633.1  homeobox protein Mohawk isoform X1

    UniProtKB/Swiss-Prot
    B3KWM5, Q8IYA7

  6. XM_054365660.1 → XP_054221635.1  homeobox protein Mohawk isoform X2

  7. XM_054365659.1 → XP_054221634.1  homeobox protein Mohawk isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IYA7.2 GenPept UniProtKB/Swiss-Prot:Q8IYA7

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