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Aliases for NKX6-1 Gene

Aliases for NKX6-1 Gene

  • NK6 Homeobox 1 2 3 5
  • Homeobox Protein NK-6 Homolog A 3 4
  • NKX6A 3 4
  • NK6 Transcription Factor Related, Locus 1 (Drosophila) 2
  • NK6 Transcription Factor Related, Locus 1 3
  • NK Homeobox (Drosophila), Family 6, A 2
  • NK6 Transcription Factor Homolog A 3
  • NK Homeo Box, Family 6, Member A 3
  • NK Homeobox, Family 6, A 3
  • Homeobox Protein Nkx-6.1 3
  • NKX6.1 3

External Ids for NKX6-1 Gene

Previous HGNC Symbols for NKX6-1 Gene

  • NKX6A

Previous GeneCards Identifiers for NKX6-1 Gene

  • GC04M085339
  • GC04M085708
  • GC04M085807
  • GC04M085872
  • GC04M085771
  • GC04M081156
  • GC04M085413

Summaries for NKX6-1 Gene

Entrez Gene Summary for NKX6-1 Gene

  • 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]

GeneCards Summary for NKX6-1 Gene

NKX6-1 (NK6 Homeobox 1) is a Protein Coding gene. Diseases associated with NKX6-1 include Non-Functioning Pancreatic Endocrine Tumor and Maturity-Onset Diabetes Of The Young. Among its related pathways are Regulation of beta-cell development and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is NKX6-2.

UniProtKB/Swiss-Prot for NKX6-1 Gene

  • Transcription factor which binds to specific A/T-rich DNA sequences in the promoter regions of a number of genes. Involved in transcriptional regulation in islet beta cells. Binds to the insulin promoter and is involved in regulation of the insulin gene. Together with NKX2-2 and IRX3 acts to restrict the generation of motor neurons to the appropriate region of the neural tube. Belongs to the class II proteins of neuronal progenitor factors, which are induced by SHH signals (By similarity).

Gene Wiki entry for NKX6-1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NKX6-1 Gene

Genomics for NKX6-1 Gene

Regulatory Elements for NKX6-1 Gene

Enhancers for NKX6-1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G084581 1.3 Ensembl ENCODE 9.3 -85.0 -84969 5.6 PKNOX1 ATF1 ZFP64 ARID4B SIN3A FEZF1 YY1 GLIS2 FOS ZNF263 NKX6-1 WDFY3-AS2 LOC102723338 PIR31866
GH04G084498 1.1 ENCODE dbSUPER 7.2 +0.4 365 0.9 FEZF1 GLIS2 ZNF366 ZNF263 YY2 JUNB ZNF398 CBX8 ZNF341 GLIS1 NKX6-1 GC04P084495
GH04G084531 0.7 ENCODE 11 -32.5 -32489 1.1 ESRRA PKNOX1 FEZF1 ZBTB40 CTBP1 GATA3 FOS TCF7L2 ZNF263 GFI1B CDS1 NKX6-1 WDFY3-AS2 RPL3P13
GH04G083640 0.7 ENCODE 9.7 +859.1 859059 0.2 CTCF ATF1 ARNT CEBPG RAD21 CHAMP1 RFX5 YY1 HSF1 SMC3 GPAT3 ABRAXAS1 NKX6-1 GC04M083639 ENSG00000201633 GC04M083654
GH04G084492 0.7 dbSUPER 7.8 +6.0 5983 2.3 ZNF202 CTCF RFX1 RNF2 SUZ12 CHD1 MAX CBX2 RBBP5 ATF2 NKX6-1 GC04P084495 GC04P084474
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NKX6-1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NKX6-1 Gene

Chromosome:
4
Start:
84,491,987 bp from pter
End:
84,499,141 bp from pter
Size:
7,155 bases
Orientation:
Minus strand

Genomic View for NKX6-1 Gene

Genes around NKX6-1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NKX6-1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NKX6-1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NKX6-1 Gene

Proteins for NKX6-1 Gene

  • Protein details for NKX6-1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78426-NKX61_HUMAN
    Recommended name:
    Homeobox protein Nkx-6.1
    Protein Accession:
    P78426

    Protein attributes for NKX6-1 Gene

    Size:
    367 amino acids
    Molecular mass:
    37849 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NKX6-1 Gene

Post-translational modifications for NKX6-1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NKX6-1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NKX6-1 (NKX6-1)
  • Abcam antibodies for NKX6-1
  • Cloud-Clone Corp. Antibodies for NKX6-1
  • Santa Cruz Biotechnology (SCBT) Antibodies for NKX6-1

No data available for DME Specific Peptides for NKX6-1 Gene

Domains & Families for NKX6-1 Gene

Gene Families for NKX6-1 Gene

Suggested Antigen Peptide Sequences for NKX6-1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P78426

UniProtKB/Swiss-Prot:

NKX61_HUMAN :
  • The C-terminal domain contributes to sequence-specific DNA-binding.
Domain:
  • The C-terminal domain contributes to sequence-specific DNA-binding.
genes like me logo Genes that share domains with NKX6-1: view

Function for NKX6-1 Gene

Molecular function for NKX6-1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor which binds to specific A/T-rich DNA sequences in the promoter regions of a number of genes. Involved in transcriptional regulation in islet beta cells. Binds to the insulin promoter and is involved in regulation of the insulin gene. Together with NKX2-2 and IRX3 acts to restrict the generation of motor neurons to the appropriate region of the neural tube. Belongs to the class II proteins of neuronal progenitor factors, which are induced by SHH signals (By similarity).

Gene Ontology (GO) - Molecular Function for NKX6-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with NKX6-1: view
genes like me logo Genes that share phenotypes with NKX6-1: view

Animal Models for NKX6-1 Gene

MGI Knock Outs for NKX6-1:

Animal Model Products

Transcription Factor Targets for NKX6-1 Gene

Selected GeneGlobe predicted Target genes for NKX6-1
Targeted motifs for NKX6-1 Gene
HOMER Transcription Factor Regulatory Elements motif NKX6-1
  • Consensus sequence: GKTAATGR Submotif: canonical Cell Type: Islet GEO ID: GSE40975

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Human Phenotype Ontology for NKX6-1 Gene

Localization for NKX6-1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NKX6-1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NKX6-1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for NKX6-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with NKX6-1: view

Pathways & Interactions for NKX6-1 Gene

genes like me logo Genes that share pathways with NKX6-1: view

Pathways by source for NKX6-1 Gene

Gene Ontology (GO) - Biological Process for NKX6-1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001764 neuron migration IEA --
GO:0003309 type B pancreatic cell differentiation IEA --
GO:0003323 type B pancreatic cell development IEA --
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with NKX6-1: view

No data available for SIGNOR curated interactions for NKX6-1 Gene

Transcripts for NKX6-1 Gene

mRNA/cDNA for NKX6-1 Gene

(1) REFSEQ mRNAs :
(0) Additional mRNA sequences :
-
(19) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NKX6-1 Gene

NK6 homeobox 1:
Representative Sequences:

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NKX6-1 Gene

No ASD Table

Relevant External Links for NKX6-1 Gene

GeneLoc Exon Structure for
NKX6-1
ECgene alternative splicing isoforms for
NKX6-1

Expression for NKX6-1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NKX6-1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NKX6-1 Gene

This gene is overexpressed in Esophagus - Muscularis (x23.9) and Esophagus - Gastroesophageal Junction (x21.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NKX6-1 Gene



SOURCE GeneReport for Unigene cluster for NKX6-1 Gene:

Hs.546270

mRNA Expression by UniProt/SwissProt for NKX6-1 Gene:

P78426-NKX61_HUMAN
Tissue specificity: Pancreatic beta cells.

Evidence on tissue expression from TISSUES for NKX6-1 Gene

  • Pancreas(4.8)
  • Nervous system(2.4)
  • Stomach(2)
genes like me logo Genes that share expression patterns with NKX6-1: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NKX6-1 Gene

Orthologs for NKX6-1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NKX6-1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NKX6-1 34 35
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia NKX6-1 34 35
  • 91.23 (n)
oppossum
(Monodelphis domestica)
Mammalia NKX6-1 35
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NKX6-1 34 35
  • 90.14 (n)
rat
(Rattus norvegicus)
Mammalia Nkx6-1 34
  • 89.56 (n)
mouse
(Mus musculus)
Mammalia Nkx6-1 34 16 35
  • 89.01 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NKX6-1 35
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NKX6-1 35
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nkx6-1 34
  • 72.78 (n)
zebrafish
(Danio rerio)
Actinopterygii nkx6.1 34 35
  • 70.68 (n)
fruit fly
(Drosophila melanogaster)
Insecta HGTX 35
  • 30 (a)
OneToMany
barley
(Hordeum vulgare)
Liliopsida Hv.1836 34
wheat
(Triticum aestivum)
Liliopsida Ta.2891 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToMany
Species where no ortholog for NKX6-1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • worm (Caenorhabditis elegans)

Evolution for NKX6-1 Gene

ENSEMBL:
Gene Tree for NKX6-1 (if available)
TreeFam:
Gene Tree for NKX6-1 (if available)

Paralogs for NKX6-1 Gene

(9) SIMAP similar genes for NKX6-1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with NKX6-1: view

Variants for NKX6-1 Gene

Sequence variations from dbSNP and Humsavar for NKX6-1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000458036 -- 84,494,747(+) ACTAG(C/G)CAGCA intron-variant
rs1000560251 -- 84,499,182(+) GTCTT(C/T)TAAGT upstream-variant-2KB
rs1000630993 -- 84,497,311(+) ACACC(A/G)GCTCA intron-variant
rs1000748481 -- 84,497,137(+) GGACG(A/G)CAGGG intron-variant
rs1000998170 -- 84,499,628(+) GTTCC(C/G)CGCTG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NKX6-1 Gene

Variant ID Type Subtype PubMed ID
nsv829998 CNV gain 17160897

Variation tolerance for NKX6-1 Gene

Gene Damage Index Score: 1.55; 30.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NKX6-1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NKX6-1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NKX6-1 Gene

Disorders for NKX6-1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NKX6-1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
non-functioning pancreatic endocrine tumor
  • non functioning pancreatic endocrine tumor
maturity-onset diabetes of the young
  • mason-type diabetes
functioning pancreatic endocrine tumor
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NKX6-1

Genetic Association Database (GAD)
NKX6-1
Human Genome Epidemiology (HuGE) Navigator
NKX6-1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NKX6-1
genes like me logo Genes that share disorders with NKX6-1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NKX6-1 Gene

Publications for NKX6-1 Gene

  1. Isolation, characterization, and chromosomal mapping of the human Nkx6.1 gene (NKX6A), a new pancreatic islet homeobox gene. (PMID: 9119408) Inoue H. … Permutt M.A. (Genomics 1997) 2 3 4 22 64
  2. Distinct regulation of hepatic nuclear factor 1alpha by NKX6.1 in pancreatic beta cells. (PMID: 20106981) Donelan W. … Yang L.J. (J. Biol. Chem. 2010) 3 22 64
  3. Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects. (PMID: 16873704) Yokoi N. … Seino S. (Diabetes 2006) 3 46 64
  4. A homeobox protein, NKX6.1, up-regulates interleukin-6 expression for cell growth in basal-like breast cancer cells. (PMID: 27032575) Li W. … Toi M. (Exp. Cell Res. 2016) 3 64
  5. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3 64

Products for NKX6-1 Gene

Sources for NKX6-1 Gene

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