NKX24_HUMAN
ID NKX24_HUMAN Reviewed; 354 AA.
AC Q9H2Z4; Q5VZV8;
DT 27-JAN-2003, integrated into UniProtKB/Swiss-Prot.
DT 23-SEP-2008, sequence version 3.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=Homeobox protein Nkx-2.4;
DE AltName: Full=Homeobox protein NK-2 homolog D;
GN Name=NKX2-4; Synonyms=NKX2D;
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=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-289.
RX PubMed=10818213; DOI=10.1007/s003350010089;
RA Wang C.-C., Brodnicki T., Copeland N.G., Jenkins N.A., Harvey R.P.;
RT "Conserved linkage of NK-2 homeobox gene pairs Nkx2-2/2-4 and Nkx2-1/2-9 in
RT mammals.";
RL Mamm. Genome 11:466-468(2000).
CC -!- FUNCTION: Probable transcription factor.
CC -!- INTERACTION:
CC Q9H2Z4; A8MTQ0: NOTO; NbExp=3; IntAct=EBI-9995757, EBI-17490746;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
CC -!- SIMILARITY: Belongs to the NK-2 homeobox family. {ECO:0000305}.
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DR EMBL; AL158013; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471133; EAX10185.1; -; Genomic_DNA.
DR EMBL; AF202037; AAG35617.1; -; Genomic_DNA.
DR CCDS; CCDS42855.1; -.
DR RefSeq; NP_149416.1; NM_033176.1.
DR AlphaFoldDB; Q9H2Z4; -.
DR SMR; Q9H2Z4; -.
DR BioGRID; 569674; 12.
DR IntAct; Q9H2Z4; 11.
DR MINT; Q9H2Z4; -.
DR STRING; 9606.ENSP00000345147; -.
DR GlyGen; Q9H2Z4; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9H2Z4; -.
DR PhosphoSitePlus; Q9H2Z4; -.
DR BioMuta; NKX2-4; -.
DR DMDM; 206729913; -.
DR MassIVE; Q9H2Z4; -.
DR MaxQB; Q9H2Z4; -.
DR PaxDb; Q9H2Z4; -.
DR PeptideAtlas; Q9H2Z4; -.
DR PRIDE; Q9H2Z4; -.
DR ProteomicsDB; 80636; -.
DR Antibodypedia; 60221; 150 antibodies from 24 providers.
DR DNASU; 644524; -.
DR Ensembl; ENST00000351817.5; ENSP00000345147.4; ENSG00000125816.5.
DR GeneID; 644524; -.
DR KEGG; hsa:644524; -.
DR MANE-Select; ENST00000351817.5; ENSP00000345147.4; NM_033176.2; NP_149416.1.
DR UCSC; uc010gcz.4; human.
DR CTD; 644524; -.
DR GeneCards; NKX2-4; -.
DR HGNC; HGNC:7837; NKX2-4.
DR HPA; ENSG00000125816; Group enriched (brain, testis).
DR MIM; 607808; gene.
DR neXtProt; NX_Q9H2Z4; -.
DR OpenTargets; ENSG00000125816; -.
DR PharmGKB; PA31644; -.
DR VEuPathDB; HostDB:ENSG00000125816; -.
DR eggNOG; KOG0842; Eukaryota.
DR GeneTree; ENSGT00940000162247; -.
DR HOGENOM; CLU_052416_0_0_1; -.
DR InParanoid; Q9H2Z4; -.
DR OMA; SLCQQQA; -.
DR OrthoDB; 1348801at2759; -.
DR PhylomeDB; Q9H2Z4; -.
DR TreeFam; TF351204; -.
DR PathwayCommons; Q9H2Z4; -.
DR SignaLink; Q9H2Z4; -.
DR BioGRID-ORCS; 644524; 12 hits in 1068 CRISPR screens.
DR GenomeRNAi; 644524; -.
DR Pharos; Q9H2Z4; Tdark.
DR PRO; PR:Q9H2Z4; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9H2Z4; protein.
DR Bgee; ENSG00000125816; Expressed in right testis and 5 other tissues.
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 1: Evidence at protein level;
KW Developmental protein; DNA-binding; Homeobox; Nucleus; Reference proteome.
FT CHAIN 1..354
FT /note="Homeobox protein Nkx-2.4"
FT /id="PRO_0000048935"
FT DNA_BIND 189..248
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 246..329
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 261..275
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 297..315
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 97
FT /note="P -> A (in Ref. 3; AAG35617)"
FT /evidence="ECO:0000305"
FT CONFLICT 275
FT /note="V -> A (in Ref. 3; AAG35617)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 354 AA; 36179 MW; A2A8963F9A2C5356 CRC64;
MSLSPKHTTP FSVSDILSPI EETYKKFSGA MDGAPPGLGA PLGAAAAYRA PPPGPSSQAA
TVAGMQPSHA MAGHNAAAAA AAAAAAAAAA ATYHMPPGVS QFPHGAMGSY CNGGLGNMGE
LPAYTDGMRG GAATGWYGAN PDPRYSSISR FMGPSAGVNV AGMGSLTGIA DAAKSLGPLH
AAAAAAAPRR KRRVLFSQAQ VYELERRFKQ QKYLSAPERE HLASMIHLTP TQVKIWFQNH
RYKMKRQAKD KAAQQLQQEG GLGPPPPPPP SPRRVAVPVL VKDGKPCQNG ASTPTPGQAG
PQPPAPTPAP ELEELSPSPP ALHGPGGGLA ALDAAAGEYS GGVLGANLLY GRTW
