P78426 (NKX61_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein Nkx-6.1

Alternative name(s):
Homeobox protein NK-6 homolog A

Gene names

Name:	NKX6-1
Synonyms:	NKX6A

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	367 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

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.
Subcellular location	Nucleus Probable.
Tissue specificity	Pancreatic beta cells.
Domain	The C-terminal domain contributes to sequence-specific DNA-binding By similarity.
Sequence similarities	Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Activator Developmental protein Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell proliferation Inferred from electronic annotation. Source: Compara cellular response to cytokine stimulus Inferred from electronic annotation. Source: Compara cellular response to peptide hormone stimulus Inferred from electronic annotation. Source: Compara detection of glucose Inferred from sequence or structural similarity. Source: BHF-UCL negative regulation of glial cell differentiation Inferred from electronic annotation. Source: Compara negative regulation of transcription from RNA polymerase II promoter Inferred from sequence or structural similarity. Source: BHF-UCL oligodendrocyte differentiation Inferred from electronic annotation. Source: Compara organ morphogenesis Traceable author statement PubMed 10567713. Source: ProtInc positive regulation of glial cell differentiation Inferred from electronic annotation. Source: Compara positive regulation of insulin secretion Inferred from electronic annotation. Source: Compara positive regulation of neuron differentiation Inferred from electronic annotation. Source: Compara positive regulation of sequence-specific DNA binding transcription factor activity Inferred from sequence or structural similarity. Source: BHF-UCL positive regulation of transcription from RNA polymerase II promoter Inferred from sequence or structural similarity. Source: BHF-UCL positive regulation of type B pancreatic cell development Inferred from sequence or structural similarity. Source: BHF-UCL regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification Inferred from electronic annotation. Source: Compara regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification Inferred from electronic annotation. Source: Compara response to drug Inferred from electronic annotation. Source: Compara response to nicotine Inferred from electronic annotation. Source: Compara smoothened signaling pathway Inferred from electronic annotation. Source: Compara transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara type B pancreatic cell maturation Inferred from sequence or structural similarity. Source: BHF-UCL
Cellular_component	nucleus Inferred from direct assay. Source: HPA
Molecular_function	chromatin binding Inferred from electronic annotation. Source: Compara sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: Compara transcription regulatory region sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 367	367	Homeobox protein Nkx-6.1		PRO_0000048951
Regions
	DNA binding	236 – 295	60	Homeobox
	Region	102 – 268	167	Repressor domain By similarity
	Region	306 – 367	62	Involved in DNA-binding By similarity
	Compositional bias	49 – 61	13	Poly-Ser
	Compositional bias	119 – 135	17	Poly-Ser
	Compositional bias	136 – 150	15	Poly-Ala
	Compositional bias	168 – 173	6	Poly-Pro
	Compositional bias	351 – 355	5	Poly-Gly
Experimental info
	Sequence conflict	100	1	D → N in AAD11962. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P78426 [UniParc]. Last modified February 9, 2010. Version 2. Checksum: 5C78F06C3CAE6486	FASTA	367	37,849
	10 20 30 40 50 60 MLAVGAMEGT RQSAFLLSSP PLAALHSMAE MKTPLYPAAY PPLPAGPPSS SSSSSSSSSP 70 80 90 100 110 120 SPPLGTHNPG GLKPPATGGL SSLGSPPQQL SAATPHGIND ILSRPSMPVA SGAALPSASP 130 140 150 160 170 180 SGSSSSSSSS ASASSASAAA AAAAAAAAAA SSPAGLLAGL PRFSSLSPPP PPPGLYFSPS 190 200 210 220 230 240 AAAVAAVGRY PKPLAELPGR TPIFWPGVMQ SPPWRDARLA CTPHQGSILL DKDGKRKHTR 250 260 270 280 290 300 PTFSGQQIFA LEKTFEQTKY LAGPERARLA YSLGMTESQV KVWFQNRRTK WRKKHAAEMA 310 320 330 340 350 360 TAKKKQDSET ERLKGASENE EEDDDYNKPL DPNSDDEKIT QLLKKHKSSS GGGGGLLLHA SEPESSS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U66799, U66797, U66798 Genomic DNA. Translation: AAD11962.1. AC096766 Genomic DNA. No translation available.
IPI	IPI00019774.
RefSeq	NP_006159.2. NM_006168.2.
UniGene	Hs.546270.
3D structure databases
ProteinModelPortal	P78426.
SMR	P78426. Positions 243-293.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000295886.
PTM databases
PhosphoSite	P78426.
Polymorphism databases
DMDM	288558819.
Proteomic databases
PaxDb	P78426.
PRIDE	P78426.
Protocols and materials databases
DNASU	4825.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000295886; ENSP00000295886; ENSG00000163623.
GeneID	4825.
KEGG	hsa:4825.
UCSC	uc003hpa.1. human.
Organism-specific databases
CTD	4825.
GeneCards	GC04M085339.
HGNC	HGNC:7839. NKX6-1.
HPA	HPA036774.
MIM	602563. gene.
neXtProt	NX_P78426.
PharmGKB	PA31646.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG265304.
HOGENOM	HOG000060127.
HOVERGEN	HBG070987.
InParanoid	P78426.
KO	K08030.
OMA	TPLYPAY.
OrthoDB	EOG4JT064.
PhylomeDB	P78426.
Enzyme and pathway databases
Reactome	REACT_111045. Developmental Biology.
Gene expression databases
ArrayExpress	P78426.
Bgee	P78426.
CleanEx	HS_NKX6-1.
Genevestigator	P78426.
GermOnline	ENSG00000163623. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR020479. Homeobox_metazoa. IPR001356. Homeodomain. IPR009057. Homeodomain-like. IPR000047. HTH_motif. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
PRINTS	PR00024. HOMEOBOX. PR00031. HTHREPRESSR.
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	4825.
NextBio	18584.
SOURCE	Search...

Entry information

Entry name

NKX61_HUMAN

Accession

Primary (citable) accession number: P78426

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	February 9, 2010
Last modified:	April 3, 2013
This is version 108 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.