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    MNX1 motor neuron and pancreas homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 3110, updated on 10-Mar-2024

    Summary

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    Official Symbol
    MNX1provided by HGNC
    Official Full Name
    motor neuron and pancreas homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:4979
    See related
    Ensembl:ENSG00000130675 MIM:142994; AllianceGenome:HGNC:4979
    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
    HB9; HLXB9; SCRA1; HOXHB9
    Summary
    This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Mutations in this gene result in Currarino syndrome, an autosomic dominant congenital malformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
    Expression
    Biased expression in colon (RPKM 3.3), small intestine (RPKM 2.3) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    7q36.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (157004854..157010663, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (158192588..158198404, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (156797548..156803357, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375605 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:156741558-156742086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18854 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18855 Neighboring gene nucleolar protein with MIF4G domain 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:156761024-156761215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18856 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:156793008-156793178 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:156795552-156796258 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:156797975-156798627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18857 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18859 Neighboring gene MNX1 antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26921 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26922 Neighboring gene MNX1 antisense RNA 1 (head to head) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:156833123-156833822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:156838101-156838601 Neighboring gene MPRA-validated peak6868 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:156847242-156847742 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:156847743-156848243 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:156870553-156871110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:156871111-156871667 Neighboring gene adenosylmethionine decarboxylase 1 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. Pan-Cancer Analysis Identifies MNX1 and Associated Antisense Transcripts as Biomarkers for Cancer. Ragusa D, et al. Cells, 2022 Nov 11. PMID 36429006, Free PMC Article
    2. An induced pluripotent stem cell t(7;12)(q36;p13) acute myeloid leukemia model shows high expression of MNX1 and a block in differentiation of the erythroid and megakaryocytic lineages. Nilsson T, et al. Int J Cancer, 2022 Sep 1. PMID 35583991, Free PMC Article
    3. Presacral neuroendocrine tumors associated with the Currarino syndrome. Scott AT, et al. Am J Med Genet A, 2021 May. PMID 33650152
    4. Novel MNX1 mutations and genotype-phenotype analysis of patients with Currarino syndrome. Han L, et al. Orphanet J Rare Dis, 2020 Jun 22. PMID 32571425, Free PMC Article
    5. MNX1-AS1 accelerates the epithelial-mesenchymal transition in osteosarcoma cells by activating MNX1 as a functional oncogene. Wu F, et al. Eur Rev Med Pharmacol Sci, 2019 Oct. PMID 31646549

    See all (62) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Aberrant MNX1 expression associated with t(7;12)(q36;p13) pediatric acute myeloid leukemia induces the disease through altering histone methylation.
      Title: Aberrant MNX1 expression associated with t(7;12)(q36;p13) pediatric acute myeloid leukemia induces the disease through altering histone methylation.
    2. Pan-Cancer Analysis Identifies MNX1 and Associated Antisense Transcripts as Biomarkers for Cancer.
      Title: Pan-Cancer Analysis Identifies MNX1 and Associated Antisense Transcripts as Biomarkers for Cancer.
    3. An induced pluripotent stem cell t(7;12)(q36;p13) acute myeloid leukemia model shows high expression of MNX1 and a block in differentiation of the erythroid and megakaryocytic lineages.
      Title: An induced pluripotent stem cell t(7;12)(q36;p13) acute myeloid leukemia model shows high expression of MNX1 and a block in differentiation of the erythroid and megakaryocytic lineages.
    4. MNX1-HNF1B Axis Is Indispensable for Intraductal Papillary Mucinous Neoplasm Lineages.
      Title: MNX1-HNF1B Axis Is Indispensable for Intraductal Papillary Mucinous Neoplasm Lineages.
    5. Global transcriptome profile of the developmental principles of in vitro iPSC-to-motor neuron differentiation.
      Title: Global transcriptome profile of the developmental principles of in vitro iPSC-to-motor neuron differentiation.
    6. Presacral neuroendocrine tumors associated with the Currarino syndrome.
      Title: Presacral neuroendocrine tumors associated with the Currarino syndrome.
    7. Long noncoding RNA MNX1-AS1 functions as a competing endogenous RNA to regulate epithelial-mesenchymal transition by sponging MiR-744-5p in colorectal cancer.
      Title: Long noncoding RNA MNX1-AS1 functions as a competing endogenous RNA to regulate epithelial-mesenchymal transition by sponging MiR-744-5p in colorectal cancer.
    8. Novel MNX1 mutations and genotype-phenotype analysis of patients with Currarino syndrome.
      Title: Novel MNX1 mutations and genotype-phenotype analysis of patients with Currarino syndrome.
    9. MNX1-AS1 accelerates the epithelial-mesenchymal transition in osteosarcoma cells by activating MNX1 as a functional oncogene.
      Title: MNX1-AS1 accelerates the epithelial-mesenchymal transition in osteosarcoma cells by activating MNX1 as a functional oncogene.
    10. the novel findings of HB9-dependent premature senescence and myeloid-biased perturbed hematopoietic differentiation, for the first time shed light on the oncogenic properties of HB9 in translocation t(7;12) acute myeloid leukemia.
      Title: The homeobox transcription factor HB9 induces senescence and blocks differentiation in hematopoietic stem and progenitor cells.
    Submit: New GeneRIF Correction See all GeneRIFs (41)

    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
    Currarino triad
    MedGen: C1531773 OMIM: 176450 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2012-10-04)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2012-10-04)

    ClinGen Genome Curation PagePubMed

    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 factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sequence-specific double-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in central nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endocrine pancreas development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron projection morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spinal cord motor neuron cell fate specification IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    motor neuron and pancreas homeobox protein 1
    Names
    homeobox HB9
    homeobox protein HB9

    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_013212.1 RefSeqGene

      Range
      4991..10800
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001165255.2 → NP_001158727.1  motor neuron and pancreas homeobox protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' exon, as compared to variant 1. The resulting isoform (2) is shorter and has a distinct N-terminus, as compared to isoform 1.
      Source sequence(s)
      AF107457, AY927460
      Consensus CDS
      CCDS55187.1
      UniProtKB/Swiss-Prot
      P50219
      Related
      ENSP00000438552.1, ENST00000543409.5
      Conserved Domains (1) summary
      pfam00046
      Location:32 → 85
      Homeobox; Homeobox domain

    2. NM_005515.4 → NP_005506.3  motor neuron and pancreas homeobox protein 1 isoform 1

      See identical proteins and their annotated locations for NP_005506.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC006357, AF107457
      Consensus CDS
      CCDS34788.1
      UniProtKB/Swiss-Prot
      F5H401, P50219, Q9Y648
      Related
      ENSP00000252971.5, ENST00000252971.11
      Conserved Domains (1) summary
      pfam00046
      Location:244 → 297
      Homeobox; Homeobox 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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      157004854..157010663 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      158192588..158198404 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P50219.3 GenPept UniProtKB/Swiss-Prot:P50219

    Gene LinkOut

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

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