Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9C056 (NKX62_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 92. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein Nkx-6.2
Alternative name(s):
Homeobox protein NK-6 homolog B
Gene names
Name:NKX6-2
Synonyms:GTX, NKX6B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length277 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Nucleus Probable.

Tissue specificity

Highest expression in brain. Ref.1

Sequence similarities

Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   DomainHomeobox
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcentral nervous system myelination

Inferred from electronic annotation. Source: Ensembl

endocrine pancreas development

Inferred from electronic annotation. Source: Ensembl

negative regulation of cell fate commitment

Inferred from electronic annotation. Source: Ensembl

negative regulation of glial cell differentiation

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

neuromuscular process controlling balance

Inferred from electronic annotation. Source: Ensembl

positive regulation of cell fate commitment

Inferred from electronic annotation. Source: Ensembl

positive regulation of glial cell differentiation

Inferred from electronic annotation. Source: Ensembl

regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification

Inferred from electronic annotation. Source: Ensembl

regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification

Inferred from electronic annotation. Source: Ensembl

regulation of transcription, DNA-templated

Non-traceable author statement Ref.1. Source: UniProtKB

   Cellular_componentnucleus

Non-traceable author statement Ref.1. Source: UniProtKB

   Molecular_functionsequence-specific DNA binding transcription factor activity

Non-traceable author statement Ref.1. Source: UniProtKB

transcription regulatory region sequence-specific DNA binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 277277Homeobox protein Nkx-6.2
PRO_0000300635

Regions

DNA binding148 – 20760Homeobox

Natural variations

Natural variant2091V → A. Ref.1 Ref.3 Ref.4
Corresponds to variant rs2804003 [ dbSNP | Ensembl ].
VAR_034878

Sequences

Sequence LengthMass (Da)Tools
Q9C056 [UniParc].

Last modified September 11, 2007. Version 2.
Checksum: 4B8EE650EC35D4A9

FASTA27729,263
        10         20         30         40         50         60 
MDTNRPGAFV LSSAPLAALH NMAEMKTSLF PYALQGPAGF KAPALGGLGA QLPLGTPHGI 

        70         80         90        100        110        120 
SDILGRPVGA AGGGLLGGLP RLNGLASSAG VYFGPAAAVA RGYPKPLAEL PGRPPIFWPG 

       130        140        150        160        170        180 
VVQGAPWRDP RLAGPAPAGG VLDKDGKKKH SRPTFSGQQI FALEKTFEQT KYLAGPERAR 

       190        200        210        220        230        240 
LAYSLGMTES QVKVWFQNRR TKWRKRHAVE MASAKKKQDS DAEKLKVGGS DAEDDDEYNR 

       250        260        270 
PLDPNSDDEK ITRLLKKHKP SNLALVSPCG GGAGDAL 

« Hide

References

« Hide 'large scale' references
[1]"Cloning, expression and chromosomal location of NKX6B to 10q26, a region frequently deleted in brain tumors."
Lee S.-H., Davison J.A., Vidal S.M., Belouchi A.
Mamm. Genome 12:157-162(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-209, TISSUE SPECIFICITY.
[2]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ALA-209.
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-209.
Tissue: Brain cortex.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF184215 Genomic DNA. Translation: AAK13251.1.
AL392043 Genomic DNA. Translation: CAI39943.1.
CH471211 Genomic DNA. Translation: EAW61308.1.
BC101635 mRNA. Translation: AAI01636.1.
BC104823 mRNA. Translation: AAI04824.1.
CCDSCCDS7670.1.
RefSeqNP_796374.1. NM_177400.2.
UniGeneHs.134013.

3D structure databases

ProteinModelPortalQ9C056.
SMRQ9C056. Positions 155-205.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000357581.

PTM databases

PhosphoSiteQ9C056.

Polymorphism databases

DMDM158564033.

Proteomic databases

PaxDbQ9C056.
PRIDEQ9C056.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000368592; ENSP00000357581; ENSG00000148826.
GeneID84504.
KEGGhsa:84504.
UCSCuc001llr.2. human.

Organism-specific databases

CTD84504.
GeneCardsGC10M134598.
HGNCHGNC:19321. NKX6-2.
MIM605955. gene.
neXtProtNX_Q9C056.
PharmGKBPA134896334.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG265304.
HOGENOMHOG000060127.
HOVERGENHBG070987.
InParanoidQ9C056.
KOK09350.
OMAGRAPIFW.
OrthoDBEOG7Z95QB.
PhylomeDBQ9C056.
TreeFamTF327063.

Gene expression databases

BgeeQ9C056.
CleanExHS_NKX6-2.
GenevestigatorQ9C056.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSPR00024. HOMEOBOX.
PR00031. HTHREPRESSR.
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiNKX6-2.
GenomeRNAi84504.
NextBio74300.
PROQ9C056.
SOURCESearch...

Entry information

Entry nameNKX62_HUMAN
AccessionPrimary (citable) accession number: Q9C056
Secondary accession number(s): Q5JSF3
Entry history
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: September 11, 2007
Last modified: July 9, 2014
This is version 92 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM