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NKX6-1

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

NKX6-1

Identifiers

Aliases

NKX6-1, NKX6.1, NKX6A, NK6 homeobox 1

External IDs

OMIM:602563;MGI:1206039;HomoloGene:4495;GeneCards:NKX6-1;OMA:NKX6-1 - orthologs

Gene location (Human)

Chr.	Chromosome 4 (human)^[1]

Band	4q21.23	Start	84,491,985bp^[1]
Band	4q21.23	End	84,499,292bp^[1]

Gene location (Mouse)

Chr.	Chromosome 5 (mouse)^[2]

Band	5\|5 E4- E5	Start	101,806,005bp^[2]
Band	5\|5 E4- E5	End	101,812,862bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

gastric mucosa

islet of Langerhans

testicle

body of pancreas

stromal cell of endometrium

left lobe of thyroid gland

substantia nigra

left testis

hypothalamus

right testis

Top expressed in

islet of Langerhans

primordial pancreas

stria vascularis

embryo

facial motor nucleus

esophagus

spinal cord

anterior horn of spinal cord

vestibular membrane of cochlear duct

cochlea

More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	DNA-binding transcription repressor activity, RNA polymerase II-specific sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding chromatin binding DNA-binding transcription factor activity DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific
Cellular component	nucleus extracellular exosome
Biological process	smoothened signaling pathway detection of glucose pancreas development transcription, DNA-templated regulation of axon extension multicellular organism development cellular response to peptide hormone stimulus central nervous system neuron differentiation response to nicotine negative regulation of glial cell differentiation type B pancreatic cell proliferation cellular response to cytokine stimulus positive regulation of DNA-binding transcription factor activity neurogenesis regulation of transcription by RNA polymerase II type B pancreatic cell development positive regulation of neuron differentiation negative regulation of transcription by RNA polymerase II positive regulation of type B pancreatic cell development type B pancreatic cell maturation oligodendrocyte differentiation regulation of transcription, DNA-templated cell population proliferation positive regulation of transcription by RNA polymerase II transcription by RNA polymerase II positive regulation of glial cell differentiation cell differentiation positive regulation of insulin secretion animal organ morphogenesis regulation of neuron migration neuron migration regulation of insulin secretion endocrine pancreas development type B pancreatic cell differentiation
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

Entrez


4825


18096

Ensembl


ENSG00000163623


ENSMUSG00000035187

UniProt


P78426


Q99MA9

RefSeq (mRNA)


NM_006168


NM_144955

RefSeq (protein)


NP_006159


NP_659204

Location (UCSC)

Chr 4: 84.49 – 84.5 Mb

Chr 5: 101.81 – 101.81 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Homeobox protein Nkx-6.1 is aprotein that in humans is encoded by theNKX6-1gene.^[5]^[6]

Function

[edit]

In thepancreas, NKX6.1 is required for the development ofbeta cells. It is a potent bifunctional transcription regulator that binds to AT-rich sequences within the promoter region of target genes.^[6]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000163623 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000035187 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Inoue H, Rudnick A, German MS, Veile R, Donis-Keller H, Permutt MA (March 1997). "Isolation, characterization, and chromosomal mapping of the human Nkx6.1 gene (NKX6A), a new pancreatic islet homeobox gene".Genomics.40 (2):367–70.doi:10.1006/geno.1996.4568.PMID 9119408.
^^a ^b"Entrez Gene: NK6 homeobox 1".

Schisler JC, Fueger PT, Babu DA, et al. (2008)."Stimulation of human and rat islet beta-cell proliferation with retention of function by the homeodomain transcription factor Nkx6.1".Mol. Cell. Biol.28 (10):3465–76.doi:10.1128/MCB.01791-07.PMC 2423154.PMID 18347054.
Hori Y, Gu X, Xie X, Kim SK (2005)."Differentiation of insulin-producing cells from human neural progenitor cells".PLOS Med.2 (4): e103.doi:10.1371/journal.pmed.0020103.PMC 1087208.PMID 15839736.
Jørgensen MC, Vestergírd Petersen H, Ericson J, et al. (1999)."Cloning and DNA-binding properties of the rat pancreatic beta-cell-specific factor Nkx6.1".FEBS Lett.461 (3):287–94.doi:10.1016/S0014-5793(99)01436-2.PMID 10567713.S2CID 1735843.
Iype T, Taylor DG, Ziesmann SM, et al. (2004)."The transcriptional repressor Nkx6.1 also functions as a deoxyribonucleic acid context-dependent transcriptional activator during pancreatic beta-cell differentiation: evidence for feedback activation of the nkx6.1 gene by Nkx6.1".Mol. Endocrinol.18 (6):1363–75.doi:10.1210/me.2004-0006.PMID 15056733.
Yokoi N, Kanamori M, Horikawa Y, et al. (2006)."Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects".Diabetes.55 (8):2379–86.doi:10.2337/db05-1203.PMID 16873704.
Zhu S, Xia HH, Yang Y, et al. (2009). "Alterations of gastric homeoprotein expression in Helicobacter pylori infection, incisural antralisation, and intestinal metaplasia".Dig. Dis. Sci.54 (5):996–1002.doi:10.1007/s10620-008-0459-8.PMID 18754095.S2CID 25173708.

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

Transcription factors andintracellular receptors

(1) Basic domains

(1.1) Basicleucine zipper (bZIP)

Activating transcription factor
- AATF
- 1
- 2
- 3
- 4
- 5
- 6
- 7
AP-1
- c-Fos
- FOSB
- FOSL1
- FOSL2
- JDP2
- c-Jun
- JUNB
- JunD
BACH
- 1
- 2
BATF
BLZF1
C/EBP
- α
- β
- γ
- δ
- ε
- ζ
CREB
- 1
- 3
- L1
CREM
DBP
DDIT3
GABPA
GCN4
HLF
MAF
- B
- sMaf
  - F
  - G
  - K
NFE
- 2
- L1
- L2
- L3
NFIL3
NRL
NRF
- 1
- 2
- 3
XBP1

(1.2) Basic helix-loop-helix (bHLH)

Group A	AS-C ASCL1 ASCL2 ATOH1 HAND 1 2 MESP2 Myogenic regulatory factors MyoD Myogenin MYF5 MYF6 NeuroD 1 2 Neurogenins 1 2 3 OLIG 1 2 Paraxis TCF15 Scleraxis SLC LYL1 TAL 1 2 Twist
Group B	FIGLA Myc c-Myc l-Myc n-Myc MXD4 TCF4
Group C bHLH-PAS	AhR AHRR ARNT ARNTL ARNTL2 CLOCK HIF 1A EPAS1 3A NPAS 1 2 3 PER 1 2 3 Period SIM 1 2
Group D	BHLH 2 3 9 Pho4 ID 1 2 3 4
Group E	HES 1 2 3 4 5 6 7 HEY 1 2 L
Group F bHLH-COE	EBF1

(1.3)bHLH-ZIP

(1.4) NF-1

NFI
- A
- B
- C
- X
SMAD
- R-SMAD
  - 1
  - 2
  - 3
  - 5
  - 9
- I-SMAD
  - 6
  - 7
- 4)

(1.5) RF-X

RFX
- 1
- 2
- 3
- 4
- 5
- 6
- ANK

(1.6) Basic helix-span-helix (bHSH)

AP-2
- α
- β
- γ
- δ
- ε

(2)Zinc finger DNA-binding domains

(2.1)Nuclear receptor(Cys₄)

subfamily 1	Thyroid hormone α β CAR FXR LXR α β PPAR α β/δ γ PXR RAR α β γ ROR α β γ Rev-ErbA α β VDR
subfamily 2	COUP-TF (I II Ear-2 HNF4 α γ PNR RXR α β γ Testicular receptor 2 4 TLX
subfamily 3	Steroid hormone Androgen Estrogen α β Glucocorticoid Mineralocorticoid Progesterone Estrogen related α β γ
subfamily 4	NUR NGFIB NOR1 NURR1
subfamily 5	LRH-1 SF1
subfamily 6	GCNF
subfamily 0	DAX1 SHP

(2.2) Other Cys₄

GATA
- 1
- 2
- 3
- 4
- 5
- 6
MTA
- 1
- 2
- 3
TRPS1

(2.3) Cys₂His₂

General transcription factors
- TFIIA
- TFIIB
- TFIID
- TFIIE
  - 1
  - 2
- TFIIF
- 1
- 2
  - TFIIH
  - 1
  - 2
  - 4
  - 2I
  - 3A
  - 3C1
  - 3C2

ATBF1
BCL
- 6
- 11A
- 11B
CTCF
E4F1
EGR
- 1
- 2
- 3
- 4
ERV3
GFI1
GLI family
- 1
- 2
- 3
- REST
- S1
- S2
- YY1
HIC
- 1
- 2
HIVEP
- 1
- 2
- 3
IKZF
- 1
- 2
- 3
ILF
- 2
- 3
Sp/KLF family
- KLF
  - 1
  - 2
  - 3
  - 4
  - 5
  - 6
  - 7
  - 8
  - 9
  - 10
  - 11
  - 12
  - 13
  - 14
  - 15
  - 17
- SP
  - 1
  - 2
  - 4
  - 7
  - 8
MTF1
MYT1
OSR1
PRDM9
SALL
- 1
- 2
- 3
- 4
TSHZ3
WT1
Zbtb7
- 7A
- 7B
ZBTB
- 11
- 16
- 17
- 20
- 21
- 32
- 33
- 40
zinc finger
- 3
- 7
- 9
- 10
- 19
- 22
- 24
- 33B
- 34
- 35
- 41
- 43
- 44
- 51
- 74
- 143
- 146
- 148
- 165
- 202
- 217
- 219
- 238
- 239
- 259
- 267
- 268
- 281
- 300
- 318
- 330
- 346
- 350
- 365
- 366
- 384
- 423
- 451
- 452
- 471
- 593
- 638
- 644
- 649
- 655
- 804A

(2.4) Cys₆

HIVEP1

(2.5) Alternating composition

AIRE
DIDO1
GRLF1
ING
- 1
- 2
- 4
JARID
- 1A
- 1B
- 1C
- 1D
- 2
JMJD1B

(2.6) WRKY

WRKY

(3)Helix-turn-helixdomains

(3.1)Homeodomain

Antennapedia
ANTP class

protoHOX Hox-like	ParaHox Gsx 1 2 Xlox PDX1 Cdx 1 2 4 extended Hox:Evx1 Evx2 MEOX1 MEOX2 Homeobox A1 A2 A3 A4 A5 A7 A9 A10 A11 A13 B1 B2 B3 B4 B5 B6 B7 B8 B9 B13 C4 C5 C6 C8 C9 C10 C11 C12 C13 D1 D3 D4 D8 D9 D10 D11 D12 D13 GBX1 GBX2 MNX1
metaHOX NK-like	BARHL1 BARHL2 BARX1 BARX2 BSX DBX 1 2 DLX 1 2 3 4 5 6 EMX 1 2 EN 1 2 HHEX HLX LBX1 LBX2 MSX 1 2 NANOG NKX 2-1 2-2 2-3 2-5 3-1 3-2 HMX1 HMX2 HMX3 6-1 6-2 NOTO TLX1 TLX2 TLX3 VAX1 VAX2

other

ARX
CRX
CUTL1
FHL
- 1
- 2
- 3
HESX1
HOPX
LMX
- 1A
- 1B
NOBOX
TALE
- IRX
  - 1
  - 2
  - 3
  - 4
  - 5
  - 6
  - MKX
- MEIS
  - 1
  - 2
- PBX
  - 1
  - 2
  - 3
- PKNOX
  - 1
  - 2
- SIX
  - 1
  - 2
  - 3
  - 4
  - 5
PHF
- 1
- 3
- 6
- 8
- 10
- 16
- 17
- 20
- 21A
POU domain
- PIT-1
- BRN-3:A
- B
- C
- Octamer transcription factor:1
- 2
- 3/4
- 6
- 7
- 11
SATB2
ZEB
- 1
- 2

(3.2) Paired box

PAX
- 1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
- 9
PRRX
- 1
- 2
PROP1
PHOX
- 2A
- 2B
RAX
SHOX
SHOX2
VSX1
VSX2
Bicoid
- GSC
- BICD2
- OTX
  - 1
  - 2
- PITX
  - 1
  - 2
  - 3

(3.3)Fork head /winged helix

E2F
- 1
- 2
- 3
- 4
- 5
FOX proteins
- A1
- A2
- A3
- B1
- B2
- C1
- C2
- D1
- D2
- D3
- D4
- D4L1
- D4L3
- D4L4
- D4L5
- D4L6
- E1
- E3
- F1
- F2
- G1
- H1
- I1
- I2
- I3
- J1
- J2
- J3
- K1
- K2
- L1
- L2
- M1
- N1
- N2
- N3
- N4
- O1
- O3
- O4
- O6
- P1
- P2
- P3
- P4
- Q1
- R1
- R2
- S1

(3.4)Heat shock factors

HSF
- 1
- 2
- 4

(3.5) Tryptophan clusters

ELF
- 2
- 4
- 5
EHF
ELK
- 1
- 3
- 4
ERF
ETS
- 1
- 2
- ERG
- SPIB
ETV
- 1
- 4
- 5
- 6
FLI1
Interferon regulatory factors
- 1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
MYB
MYBL2

(3.6) TEA domain

transcriptional enhancer factor
- 1
- 2
- 3
- 4

(4)β-Scaffold factors with minor groove contacts

(4.1)Rel homology region	NF-κB NFKB1 NFKB2 REL RELA RELB NFAT C1 C2 C3 C4 5
(4.2)STAT	STAT 1 2 3 4 5 6
(4.3) p53-like	p53 p63 p73 family p53 TP63 p73 TBX 1 2 3 5 19 21 22 TBR1 TBR2 TFT MYRF
(4.4)MADS box	Mef2 A B C D SRF
(4.6)TATA-binding proteins	TBP TBPL1
(4.7)High-mobility group	BBX HMGB 1 2 3 4 HMGN 1 2 3 4 HNF 1A 1B SOX 1 2 3 4 5 6 8 9 10 11 12 13 14 15 17 18 21 SRY SSRP1 TCF/LEF TCF 1 3 4 LEF1 TOX 1 2 3 4
(4.9) Grainyhead	TFCP2
(4.10) Cold-shock domain	CSDA YBX1
(4.11) Runt	CBF CBFA2T2 CBFA2T3 RUNX1 RUNX2 RUNX3 RUNX1T1

(0) Other transcription factors

(0.2) HMGI(Y)	HMGA 1 2 HBP1
(0.3)Pocket domain	Rb RBL1 RBL2
(0.5)AP-2/EREBP-related factors	Apetala 2 EREBP B3
(0.6) Miscellaneous	ARID 1A 1B 2 3A 3B 4A CAP IFI 16 35 MLL 2 3 T1 MNDA NFY A B C Rho/Sigma

see alsotranscription factor/coregulator deficiencies

This article on agene on humanchromosome 4 is astub. You can help Wikipedia byexpanding it.

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