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P78426

- NKX61_HUMAN

UniProt

P78426 - NKX61_HUMAN

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Protein

Homeobox protein Nkx-6.1

Gene

NKX6-1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

Functioni

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).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi236 – 29560HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. chromatin binding Source: Ensembl
  2. sequence-specific DNA binding Source: Ensembl
  3. sequence-specific DNA binding transcription factor activity Source: Ensembl

GO - Biological processi

  1. cell proliferation Source: Ensembl
  2. cellular response to cytokine stimulus Source: Ensembl
  3. cellular response to peptide hormone stimulus Source: Ensembl
  4. detection of glucose Source: BHF-UCL
  5. endocrine pancreas development Source: Reactome
  6. negative regulation of glial cell differentiation Source: Ensembl
  7. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  8. oligodendrocyte differentiation Source: Ensembl
  9. organ morphogenesis Source: ProtInc
  10. pancreas development Source: BHF-UCL
  11. positive regulation of glial cell differentiation Source: Ensembl
  12. positive regulation of insulin secretion Source: Ensembl
  13. positive regulation of neuron differentiation Source: Ensembl
  14. positive regulation of sequence-specific DNA binding transcription factor activity Source: BHF-UCL
  15. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  16. positive regulation of type B pancreatic cell development Source: BHF-UCL
  17. regulation of axon extension Source: Ensembl
  18. regulation of neuron migration Source: Ensembl
  19. regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification Source: Ensembl
  20. regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification Source: Ensembl
  21. response to drug Source: Ensembl
  22. response to nicotine Source: Ensembl
  23. smoothened signaling pathway Source: Ensembl
  24. transcription from RNA polymerase II promoter Source: Ensembl
  25. type B pancreatic cell maturation Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_13778. Regulation of gene expression in early pancreatic precursor cells.
REACT_13819. Regulation of gene expression in beta cells.

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein Nkx-6.1
Alternative name(s):
Homeobox protein NK-6 homolog A
Gene namesi
Name:NKX6-1
Synonyms:NKX6A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:7839. NKX6-1.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31646.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 367367Homeobox protein Nkx-6.1PRO_0000048951Add
BLAST

Proteomic databases

PaxDbiP78426.
PRIDEiP78426.

PTM databases

PhosphoSiteiP78426.

Expressioni

Tissue specificityi

Pancreatic beta cells.

Gene expression databases

BgeeiP78426.
CleanExiHS_NKX6-1.
ExpressionAtlasiP78426. baseline and differential.
GenevestigatoriP78426.

Organism-specific databases

HPAiHPA036774.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000295886.

Structurei

3D structure databases

ProteinModelPortaliP78426.
SMRiP78426. Positions 243-293.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni102 – 268167Repressor domainBy similarityAdd
BLAST
Regioni306 – 36762Involved in DNA-bindingBy similarityAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi49 – 6113Poly-SerAdd
BLAST
Compositional biasi119 – 13517Poly-SerAdd
BLAST
Compositional biasi136 – 15015Poly-AlaAdd
BLAST
Compositional biasi168 – 1736Poly-Pro
Compositional biasi351 – 3555Poly-Gly

Domaini

The C-terminal domain contributes to sequence-specific DNA-binding.By similarity

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG265304.
GeneTreeiENSGT00760000118779.
HOGENOMiHOG000060127.
HOVERGENiHBG070987.
InParanoidiP78426.
KOiK08030.
OMAiTPLYPAY.
OrthoDBiEOG7Z95QB.
PhylomeDBiP78426.
TreeFamiTF327063.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P78426-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MLAVGAMEGT RQSAFLLSSP PLAALHSMAE MKTPLYPAAY PPLPAGPPSS
60 70 80 90 100
SSSSSSSSSP SPPLGTHNPG GLKPPATGGL SSLGSPPQQL SAATPHGIND
110 120 130 140 150
ILSRPSMPVA SGAALPSASP SGSSSSSSSS ASASSASAAA AAAAAAAAAA
160 170 180 190 200
SSPAGLLAGL PRFSSLSPPP PPPGLYFSPS AAAVAAVGRY PKPLAELPGR
210 220 230 240 250
TPIFWPGVMQ SPPWRDARLA CTPHQGSILL DKDGKRKHTR PTFSGQQIFA
260 270 280 290 300
LEKTFEQTKY LAGPERARLA YSLGMTESQV KVWFQNRRTK WRKKHAAEMA
310 320 330 340 350
TAKKKQDSET ERLKGASENE EEDDDYNKPL DPNSDDEKIT QLLKKHKSSS
360
GGGGGLLLHA SEPESSS
Length:367
Mass (Da):37,849
Last modified:February 9, 2010 - v2
Checksum:i5C78F06C3CAE6486
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti100 – 1001D → N in AAD11962. (PubMed:9119408)Curated

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U66799, U66797, U66798 Genomic DNA. Translation: AAD11962.1.
AC096766 Genomic DNA. No translation available.
CCDSiCCDS3607.1.
RefSeqiNP_006159.2. NM_006168.2.
XP_006714293.1. XM_006714230.1.
UniGeneiHs.546270.

Genome annotation databases

EnsembliENST00000295886; ENSP00000295886; ENSG00000163623.
GeneIDi4825.
KEGGihsa:4825.
UCSCiuc003hpa.1. human.

Polymorphism databases

DMDMi288558819.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U66799 , U66797 , U66798 Genomic DNA. Translation: AAD11962.1 .
AC096766 Genomic DNA. No translation available.
CCDSi CCDS3607.1.
RefSeqi NP_006159.2. NM_006168.2.
XP_006714293.1. XM_006714230.1.
UniGenei Hs.546270.

3D structure databases

ProteinModelPortali P78426.
SMRi P78426. Positions 243-293.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000295886.

PTM databases

PhosphoSitei P78426.

Polymorphism databases

DMDMi 288558819.

Proteomic databases

PaxDbi P78426.
PRIDEi P78426.

Protocols and materials databases

DNASUi 4825.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000295886 ; ENSP00000295886 ; ENSG00000163623 .
GeneIDi 4825.
KEGGi hsa:4825.
UCSCi uc003hpa.1. human.

Organism-specific databases

CTDi 4825.
GeneCardsi GC04M085413.
HGNCi HGNC:7839. NKX6-1.
HPAi HPA036774.
MIMi 602563. gene.
neXtProti NX_P78426.
PharmGKBi PA31646.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG265304.
GeneTreei ENSGT00760000118779.
HOGENOMi HOG000060127.
HOVERGENi HBG070987.
InParanoidi P78426.
KOi K08030.
OMAi TPLYPAY.
OrthoDBi EOG7Z95QB.
PhylomeDBi P78426.
TreeFami TF327063.

Enzyme and pathway databases

Reactomei REACT_13778. Regulation of gene expression in early pancreatic precursor cells.
REACT_13819. Regulation of gene expression in beta cells.

Miscellaneous databases

GeneWikii NKX6-1.
GenomeRNAii 4825.
NextBioi 18584.
PROi P78426.
SOURCEi Search...

Gene expression databases

Bgeei P78426.
CleanExi HS_NKX6-1.
ExpressionAtlasi P78426. baseline and differential.
Genevestigatori P78426.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
[Graphical view ]
PRINTSi PR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation, characterization, and chromosomal mapping of the human Nkx6.1 gene (NKX6A), a new pancreatic islet homeobox gene."
    Inoue H., Rudnick A., German M.S., Veile R., Donis-Keller H., Permutt M.A.
    Genomics 40:367-370(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Pancreatic islet.
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Entry informationi

Entry nameiNKX61_HUMAN
AccessioniPrimary (citable) accession number: P78426
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: February 9, 2010
Last modified: October 29, 2014
This is version 122 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3