NKX12_HUMAN
ID NKX12_HUMAN Reviewed; 310 AA.
AC Q9UD57;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 28-JUN-2011, sequence version 3.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=NK1 transcription factor-related protein 2;
DE AltName: Full=Homeobox protein SAX-1;
DE AltName: Full=NKX-1.1;
GN Name=NKX1-2; Synonyms=C10orf121, NKX1.1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 171-209.
RC TISSUE=Bone marrow;
RX PubMed=7518789; DOI=10.1016/0378-1119(94)90380-8;
RA Moretti P., Simmons P., Thomas P., Haylock D., Rathjen P., Vadas M.,
RA D'Andrea R.;
RT "Identification of homeobox genes expressed in human haemopoietic
RT progenitor cells.";
RL Gene 144:213-219(1994).
CC -!- FUNCTION: May function in cell specification, particularly in the CNS.
CC {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
CC -!- SIMILARITY: Belongs to the NK-1 homeobox family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AL445237; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS59221.1; -.
DR RefSeq; NP_001139812.1; NM_001146340.1.
DR AlphaFoldDB; Q9UD57; -.
DR SMR; Q9UD57; -.
DR BioGRID; 133354; 2.
DR STRING; 9606.ENSP00000451945; -.
DR BioMuta; NKX1-2; -.
DR DMDM; 338817978; -.
DR MassIVE; Q9UD57; -.
DR PeptideAtlas; Q9UD57; -.
DR PRIDE; Q9UD57; -.
DR ProteomicsDB; 84111; -.
DR Antibodypedia; 60104; 83 antibodies from 17 providers.
DR DNASU; 390010; -.
DR Ensembl; ENST00000451024.5; ENSP00000451945.1; ENSG00000229544.9.
DR GeneID; 390010; -.
DR KEGG; hsa:390010; -.
DR MANE-Select; ENST00000451024.5; ENSP00000451945.1; NM_001146340.3; NP_001139812.1.
DR UCSC; uc010quf.3; human.
DR CTD; 390010; -.
DR GeneCards; NKX1-2; -.
DR HGNC; HGNC:31652; NKX1-2.
DR HPA; ENSG00000229544; Not detected.
DR neXtProt; NX_Q9UD57; -.
DR OpenTargets; ENSG00000229544; -.
DR PharmGKB; PA134977174; -.
DR VEuPathDB; HostDB:ENSG00000229544; -.
DR eggNOG; KOG0488; Eukaryota.
DR GeneTree; ENSGT00940000162535; -.
DR HOGENOM; CLU_063378_0_0_1; -.
DR InParanoid; Q9UD57; -.
DR OMA; EPSCAKP; -.
DR OrthoDB; 1371237at2759; -.
DR TreeFam; TF316128; -.
DR PathwayCommons; Q9UD57; -.
DR SignaLink; Q9UD57; -.
DR BioGRID-ORCS; 390010; 10 hits in 1086 CRISPR screens.
DR GenomeRNAi; 390010; -.
DR Pharos; Q9UD57; Tdark.
DR PRO; PR:Q9UD57; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q9UD57; protein.
DR Bgee; ENSG00000229544; Expressed in secondary oocyte and 36 other tissues.
DR Genevisible; Q9UD57; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 2: Evidence at transcript level;
KW Developmental protein; DNA-binding; Homeobox; Nucleus; Reference proteome.
FT CHAIN 1..310
FT /note="NK1 transcription factor-related protein 2"
FT /id="PRO_0000325972"
FT DNA_BIND 163..222
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 36..165
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 217..260
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 45..65
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 95..109
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 310 AA; 32381 MW; FF2D02B4DCFC5689 CRC64;
MLAWQDGGAK AAPSHHKISF SVLDILDPQK FTRAALPAVR PAPREARKSL AEVEAGKDAS
SRDPVRQLET PDAAGPGAGQ ASPLEGSEAE EEEDAEDPRR PRLRERAARL LPGLARSPDA
PAGALASGEP CEDGGGGPVR SPPGSPGSPR PRRRRLEPNC AKPRRARTAF TYEQLVALEN
KFRATRYLSV CERLNLALSL SLTETQVKIW FQNRRTKWKK QNPGADGAAQ VGGGAPQPGA
AGGGGGGGSG GSPGPPGTGA LHFQTFPSYS AANVLFPSAA SFPLTAAAPG SPFAPFLGPS
YLTPFYAPRL
