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

Gene ID: 4825, updated on 12-Oct-2019

Summary

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
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]
Expression
Biased expression in esophagus (RPKM 3.3), thyroid (RPKM 0.9) and 4 other tissues See more
Orthologs

Genomic context

See NKX6-1 in Genome Data Viewer
Location:
4q21.23
Exon count:
3
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 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 heart enhancer 9 Neighboring gene VISTA enhancer hs680 Neighboring gene uncharacterized LOC102723338 Neighboring gene ribosomal protein L3 pseudogene 13 Neighboring gene CDP-diacylglycerol synthase 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
animal organ morphogenesis TAS
Traceable Author Statement
more info
PubMed 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
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 by RNA polymerase II 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 DNA-binding transcription factor activity 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 transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II 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 nicotine IEA
Inferred from Electronic Annotation
more info
 
smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
transcription by RNA polymerase II 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 HDA PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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, ENST00000295886.4
    Conserved Domains (1) summary
    pfam00046
    Location:239292
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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