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

    Gene ID: 3110, updated on 26-Nov-2016
    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 HPRD:00874; MIM:142994; Vega:OTTHUMG00000157181
    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]
    Orthologs
    Location:
    7q36.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (157004853..157010653, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (156797547..156803347, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375605 Neighboring gene nucleolar protein with MIF4G domain 1 Neighboring gene MNX1 antisense RNA 2 Neighboring gene MNX1 antisense RNA 1 (head to head) Neighboring gene adenosylmethionine decarboxylase 1 pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    • Maturity onset diabetes of the young, organism-specific biosystem (from KEGG)
      Maturity onset diabetes of the young, organism-specific biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
    • Maturity onset diabetes of the young, conserved biosystem (from KEGG)
      Maturity onset diabetes of the young, conserved biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor activity, sequence-specific DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    endocrine pancreas development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    humoral immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    neuron projection morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    spinal cord motor neuron cell fate specification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    motor neuron and pancreas homeobox protein 1
    Names
    homeobox HB9
    homeobox protein HB9

    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
      5001..10801
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001165255.1NP_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, ENST00000543409
      Conserved Domains (1) summary
      pfam00046
      Location:3285
      Homeobox; Homeobox domain
    2. NM_005515.3NP_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
      P50219
      Related
      ENSP00000252971, OTTHUMP00000211645, ENST00000252971, OTTHUMT00000347796
      Conserved Domains (1) summary
      pfam00046
      Location:244297
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      157004853..157010653 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      156806166..156811852 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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