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

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; AllianceGenome:HGNC:7839
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: mouse all
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Genomic context

Location:: 4q21.23

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (84491985..84499292, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (87821981..87829288, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (85413138..85420445, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NKX6-1 Is a Less Sensitive But Specific Biomarker of Chromophobe Renal Cell Carcinoma.
Title: NKX6-1 Is a Less Sensitive But Specific Biomarker of Chromophobe Renal Cell Carcinoma.
MiR-190b impedes pancreatic beta cell proliferation and insulin secretion by targeting NKX6-1 and may associate to gestational diabetes mellitus.
Title: MiR-190b impedes pancreatic β cell proliferation and insulin secretion by targeting NKX6-1 and may associate to gestational diabetes mellitus.
Increased NKX6.1 expression and decreased ARX expression in alpha cells accompany reduced beta-cell volume in human subjects.
Title: Increased NKX6.1 expression and decreased ARX expression in alpha cells accompany reduced beta-cell volume in human subjects.
NKX6-1 mediates cancer stem-like properties and regulates sonic hedgehog signaling in leiomyosarcoma.
Title: NKX6-1 mediates cancer stem-like properties and regulates sonic hedgehog signaling in leiomyosarcoma.
NKX6.1 transcription factor: a crucial regulator of pancreatic beta cell development, identity, and proliferation.
Title: NKX6.1 transcription factor: a crucial regulator of pancreatic β cell development, identity, and proliferation.
NKX6.1 Represses Tumorigenesis, Metastasis, and Chemoresistance in Colorectal Cancer.
Title: NKX6.1 Represses Tumorigenesis, Metastasis, and Chemoresistance in Colorectal Cancer.
Intermediate and high-grade tumors expressed NKX6.1.
Title: Immunohistochemical analysis of OTP and NKX6.1 in neuroendocrine tumors of the lung and pancreas.
Data demonstrated that patients with NKX6.1 methylation presented poorer 5-year overall survival (P = 0.0167) and disease-free survival (P = 0.0083) than patients without NKX6.1 methylation after receiving adjuvant chemotherapy.
Title: NKX6.1 hypermethylation predicts the outcome of stage II colorectal cancer patients undergoing chemotherapy.
Data indicate the secretory granule membrane glycoprotein 2 as a marker for PDX1+/NKX6-1+ pancreatic progenitors (PPs).
Title: Glycoprotein 2 is a specific cell surface marker of human pancreatic progenitors.
Efficiency of differentiation of Induced pluripotent stem cells to insulin producing cells can be increased by concurrent expression of PDX1 and NKX6.1 during progenitor cells maturation.
Title: Directed differentiation of human iPSC into insulin producing cells is improved by induced expression of PDX1 and NKX6.1 factors in IPC progenitors.

Submit: New GeneRIF Correction See all GeneRIFs (24)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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 RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables chromatin binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in animal organ morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in cellular response to cytokine stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to peptide hormone stimulus	IEA Inferred from Electronic Annotation more info
involved_in central nervous system neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in glucose mediated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in pancreas development	ISS Inferred from Sequence or Structural Similarity more info
involved_in pancreatic A cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of type B pancreatic cell development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of axon extension	IEA Inferred from Electronic Annotation more info
involved_in regulation of neuron migration	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in response to nicotine	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in smoothened signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in type B pancreatic cell maturation	ISS Inferred from Sequence or Structural Similarity more info
involved_in type B pancreatic cell proliferation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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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)

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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.