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    NKX6-1 NK6 homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 4825, updated on 8-Oct-2017
    Official Symbol
    NKX6-1provided by HGNC
    Official Full Name
    NK6 homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:7839
    See related
    Ensembl:ENSG00000163623 MIM:602563; Vega:OTTHUMG00000130426
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NKX6A; NKX6.1
    Summary
    In the pancreas, NKX6.1 is required for the development of beta cells and is a potent bifunctional transcription regulator that binds to AT-rich sequences within the promoter region of target genes Iype et al. (2004) [PubMed 15056733].[supplied by OMIM, Mar 2008]
    Orthologs
    Location:
    4q21.23
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (84493283..84498234, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (85414436..85419387, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928978 Neighboring gene RNA, U6 small nuclear 774, pseudogene Neighboring gene PLAG1 like zinc finger 2 pseudogene Neighboring gene uncharacterized LOC102723338 Neighboring gene ribosomal protein L3 pseudogene 13 Neighboring gene CDP-diacylglycerol synthase 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Dopaminergic Neurogenesis, organism-specific biosystem (from WikiPathways)
      Dopaminergic Neurogenesis, organism-specific biosystemConverted to human from mouse: http://www.wikipathways.org/index.php/Pathway:WP1498
    • 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...
    • Regulation of beta-cell development, organism-specific biosystem (from REACTOME)
      Regulation of beta-cell development, organism-specific biosystemThe normal development of the pancreas during gestation has been intensively investigated over the past decade especially in the mouse (Servitja and Ferrer 2004; Chakrabarti and Mirmira 2003). Studie...
    • Regulation of gene expression in beta cells, organism-specific biosystem (from REACTOME)
      Regulation of gene expression in beta cells, organism-specific biosystemTwo transcription factors, PDX1 and HNF1A, play key roles in maintaining the gene expression pattern characteristic of mature beta cells in the endocrine pancreas. Targets of these regulatory molecul...
    • Regulation of gene expression in early pancreatic precursor cells, organism-specific biosystem (from REACTOME)
      Regulation of gene expression in early pancreatic precursor cells, organism-specific biosystemThe properties of transcriptional networks early in the differentiation of human pancreatic cells are inferred from the properties of well-studied networks in mouse models. In mice, the first visible...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    animal organ morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to cytokine stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to peptide hormone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    detection of glucose ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of glial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    pancreas development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of glial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of sequence-specific DNA binding transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of type B pancreatic cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of axon extension IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to nicotine IEA
    Inferred from Electronic Annotation
    more info
     
    smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    type B pancreatic cell maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    type B pancreatic cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    homeobox protein Nkx-6.1
    Names
    NK homeo box, family 6, member A
    NK homeobox, family 6, A
    NK6 transcription factor homolog A
    NK6 transcription factor related, locus 1
    homeobox protein NK-6 homolog A

    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.

    mRNA and Protein(s)

    1. NM_006168.2NP_006159.2  homeobox protein Nkx-6.1

      See identical proteins and their annotated locations for NP_006159.2

      Status: VALIDATED

      Source sequence(s)
      AC096766
      Consensus CDS
      CCDS3607.1
      UniProtKB/Swiss-Prot
      P78426
      Related
      ENSP00000295886.3, OTTHUMP00000160981, ENST00000295886.4, OTTHUMT00000252814
      Conserved Domains (2) summary
      pfam00046
      Location:239292
      Homeobox; Homeobox domain
      pfam11861
      Location:290344
      DUF3381; Domain of unknown function (DUF3381)

    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_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      84493283..84498234 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      85391105..85396056 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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