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    MKX mohawk homeobox [ Homo sapiens (human) ]

    Gene ID: 283078, updated on 3-Apr-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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    Location:
    10p12.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (27672874..27745819, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (27703607..27776565, complement)
    105.20220307 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. 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
    3. 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
    4. In silico characterization of an Iroquois family-related homeodomain protein. Weinmann A, et al. Int J Mol Med, 2005 Sep. PMID 16077953
    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 (28) 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)

    Genotypes

    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
    part_of 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_2023_10

    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

    Gene LinkOut

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

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