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Q9C056

- NKX62_HUMAN

UniProt

Q9C056 - NKX62_HUMAN

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Protein

Homeobox protein Nkx-6.2

Gene

NKX6-2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi148 – 20760HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

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

GO - Biological processi

  1. central nervous system myelination Source: Ensembl
  2. endocrine pancreas development Source: Ensembl
  3. negative regulation of cell fate commitment Source: Ensembl
  4. negative regulation of glial cell differentiation Source: Ensembl
  5. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  6. neuromuscular process controlling balance Source: Ensembl
  7. positive regulation of cell fate commitment Source: Ensembl
  8. positive regulation of glial cell differentiation Source: Ensembl
  9. regulation of transcription, DNA-templated Source: UniProtKB
  10. regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification Source: Ensembl
  11. regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein Nkx-6.2
Alternative name(s):
Homeobox protein NK-6 homolog B
Gene namesi
Name:NKX6-2
Synonyms:GTX, NKX6B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:19321. NKX6-2.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134896334.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 277277Homeobox protein Nkx-6.2PRO_0000300635Add
BLAST

Proteomic databases

PaxDbiQ9C056.
PRIDEiQ9C056.

PTM databases

PhosphoSiteiQ9C056.

Expressioni

Tissue specificityi

Highest expression in brain.1 Publication

Gene expression databases

BgeeiQ9C056.
CleanExiHS_NKX6-2.
GenevestigatoriQ9C056.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000357581.

Structurei

3D structure databases

ProteinModelPortaliQ9C056.
SMRiQ9C056. Positions 155-205.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG265304.
GeneTreeiENSGT00760000118779.
HOGENOMiHOG000060127.
HOVERGENiHBG070987.
InParanoidiQ9C056.
KOiK09350.
OMAiGRAPIFW.
OrthoDBiEOG7Z95QB.
PhylomeDBiQ9C056.
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.

Q9C056-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MDTNRPGAFV LSSAPLAALH NMAEMKTSLF PYALQGPAGF KAPALGGLGA
60 70 80 90 100
QLPLGTPHGI SDILGRPVGA AGGGLLGGLP RLNGLASSAG VYFGPAAAVA
110 120 130 140 150
RGYPKPLAEL PGRPPIFWPG VVQGAPWRDP RLAGPAPAGG VLDKDGKKKH
160 170 180 190 200
SRPTFSGQQI FALEKTFEQT KYLAGPERAR LAYSLGMTES QVKVWFQNRR
210 220 230 240 250
TKWRKRHAVE MASAKKKQDS DAEKLKVGGS DAEDDDEYNR PLDPNSDDEK
260 270
ITRLLKKHKP SNLALVSPCG GGAGDAL
Length:277
Mass (Da):29,263
Last modified:September 11, 2007 - v2
Checksum:i4B8EE650EC35D4A9
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti209 – 2091V → A.3 Publications
Corresponds to variant rs2804003 [ dbSNP | Ensembl ].
VAR_034878

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS7670.1.
RefSeqiNP_796374.1. NM_177400.2.
UniGeneiHs.134013.

Genome annotation databases

EnsembliENST00000368592; ENSP00000357581; ENSG00000148826.
GeneIDi84504.
KEGGihsa:84504.
UCSCiuc001llr.2. human.

Polymorphism databases

DMDMi158564033.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS7670.1.
RefSeqi NP_796374.1. NM_177400.2.
UniGenei Hs.134013.

3D structure databases

ProteinModelPortali Q9C056.
SMRi Q9C056. Positions 155-205.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000357581.

PTM databases

PhosphoSitei Q9C056.

Polymorphism databases

DMDMi 158564033.

Proteomic databases

PaxDbi Q9C056.
PRIDEi Q9C056.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000368592 ; ENSP00000357581 ; ENSG00000148826 .
GeneIDi 84504.
KEGGi hsa:84504.
UCSCi uc001llr.2. human.

Organism-specific databases

CTDi 84504.
GeneCardsi GC10M134598.
HGNCi HGNC:19321. NKX6-2.
MIMi 605955. gene.
neXtProti NX_Q9C056.
PharmGKBi PA134896334.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG265304.
GeneTreei ENSGT00760000118779.
HOGENOMi HOG000060127.
HOVERGENi HBG070987.
InParanoidi Q9C056.
KOi K09350.
OMAi GRAPIFW.
OrthoDBi EOG7Z95QB.
PhylomeDBi Q9C056.
TreeFami TF327063.

Miscellaneous databases

GeneWikii NKX6-2.
GenomeRNAii 84504.
NextBioi 74300.
PROi Q9C056.
SOURCEi Search...

Gene expression databases

Bgeei Q9C056.
CleanExi HS_NKX6-2.
Genevestigatori Q9C056.

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. "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.
    , 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. 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.

Entry informationi

Entry nameiNKX62_HUMAN
AccessioniPrimary (citable) accession number: Q9C056
Secondary accession number(s): Q5JSF3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: September 11, 2007
Last modified: October 29, 2014
This is version 94 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 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3