NKX6-1 (NK6 homeobox 1)

Gene

• Entrez ID: 4825
• Gene name: NK6 homeobox 1
• Gene symbol: NKX6-1
• Synonyms: NKX6.1, NKX6A
• Chromosome: 4
• Chromosome location: 4q21.23
• 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, M

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048171	hsa-miR-196a-5p	CLASH	23622248
MIRT444278	hsa-miR-9500	PAR-CLIP	22100165
MIRT444277	hsa-miR-4785	PAR-CLIP	22100165
MIRT444276	hsa-miR-4747-5p	PAR-CLIP	22100165
MIRT444275	hsa-miR-5196-5p	PAR-CLIP	22100165
MIRT444274	hsa-miR-644a	PAR-CLIP	22100165
MIRT444273	hsa-miR-937-5p	PAR-CLIP	22100165
MIRT444272	hsa-miR-627-5p	PAR-CLIP	22100165
MIRT444271	hsa-miR-4474-3p	PAR-CLIP	22100165
MIRT444270	hsa-miR-8081	PAR-CLIP	22100165
MIRT440106	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT440106	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT444278	hsa-miR-9500	PAR-CLIP	22100165
MIRT444277	hsa-miR-4785	PAR-CLIP	22100165
MIRT444276	hsa-miR-4747-5p	PAR-CLIP	22100165
MIRT444275	hsa-miR-5196-5p	PAR-CLIP	22100165
MIRT444274	hsa-miR-644a	PAR-CLIP	22100165
MIRT444273	hsa-miR-937-5p	PAR-CLIP	22100165
MIRT444272	hsa-miR-627-5p	PAR-CLIP	22100165
MIRT444271	hsa-miR-4474-3p	PAR-CLIP	22100165
MIRT444270	hsa-miR-8081	PAR-CLIP	22100165

Transcription factors

Transcription factor	Regulation	Reference
FOXO1	Unknown	20033803

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0009887	Process	Animal organ morphogenesis	TAS	10567713
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0030516	Process	Regulation of axon extension	IEA
GO:0031016	Process	Pancreas development	ISS
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0035094	Process	Response to nicotine	IEA
GO:0042493	Process	Response to drug	IEA
GO:0044342	Process	Type B pancreatic cell proliferation	ISS
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045686	Process	Negative regulation of glial cell differentiation	IEA
GO:0045687	Process	Positive regulation of glial cell differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	ISS
GO:0051594	Process	Detection of glucose	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071345	Process	Cellular response to cytokine stimulus	IEA
GO:0071375	Process	Cellular response to peptide hormone stimulus	IEA
GO:0072560	Process	Type B pancreatic cell maturation	ISS
GO:2000078	Process	Positive regulation of type B pancreatic cell development	ISS
GO:2001222	Process	Regulation of neuron migration	IEA

Other IDs

• MIM: 602563
• HGNC: 7839
• e!Ensembl: ENSG00000163623

Protein

• UniProt ID: P78426
• Protein name: Homeobox protein Nkx-6.1 (Homeobox protein NK-6 homolog A)
• Protein function: Transcription factor which binds to specific A/T-rich DNA sequences in the promoter regions of a number of genes. Involved in the development of insulin-producing beta cells in the islets of Langerhans at the secondary transition (By similarity)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	237 → 293	Homeodomain	Domain

• Sequence:

  MLAVGAMEGTRQSAFLLSSPPLAALHSMAEMKTPLYPAAYPPLPAGPPSSSSSSSSSSSP
  SPPLGTHNPGGLKPPATGGLSSLGSPPQQLSAATPHGINDILSRPSMPVASGAALPSASP
  SGSSSSSSSSASASSASAAAAAAAAAAAAASSPAGLLAGLPRFSSLSPPPPPPGLYFSPS
  AAAVAAVGRYPKPLAELPGRTPIFWPGVMQSPPWRDARLACTPHQGSILLDKDGKRKHTR
  PTFSGQQIFALEKTFEQTKYLAGPERARLAYSLGMTESQVKVWFQNRRTKWRKKHAAEMA
  TAKKKQDSETERLKGASENEEEDDDYNKPLDPNSDDEKITQLLKKHKSSSGGGGGLLLHA
  SEPESSS

• Sequence length: 367

Pathways

KEGG:

Maturity onset diabetes of the young

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	16123366