NKX28_HUMAN
ID NKX28_HUMAN Reviewed; 239 AA.
AC O15522; Q8IUT7;
DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT 23-SEP-2008, sequence version 2.
DT 03-AUG-2022, entry version 176.
DE RecName: Full=Homeobox protein Nkx-2.8;
DE AltName: Full=Homeobox protein NK-2 homolog H;
GN Name=NKX2-8; Synonyms=NKX-2.8, NKX2G, NKX2H;
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 [GENOMIC DNA / MRNA].
RX PubMed=9446603; DOI=10.1074/jbc.273.5.2917;
RA Apergis G.A., Crawford N., Ghosh D., Steppan C.M., Vorachek W.R., Wen P.,
RA Locker J.;
RT "A novel nk-2-related transcription factor associated with human fetal
RT liver and hepatocellular carcinoma.";
RL J. Biol. Chem. 273:2917-2925(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Tongue;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the NK-2 homeobox family. {ECO:0000305}.
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DR EMBL; AF000295; AAC71081.1; -; mRNA.
DR EMBL; AF000297; AAC71082.1; -; Genomic_DNA.
DR EMBL; AF000296; AAC71082.1; JOINED; Genomic_DNA.
DR EMBL; AK313537; BAG36314.1; -; mRNA.
DR EMBL; BC041090; AAH41090.1; -; mRNA.
DR CCDS; CCDS9660.1; -.
DR RefSeq; NP_055175.2; NM_014360.3.
DR AlphaFoldDB; O15522; -.
DR SMR; O15522; -.
DR STRING; 9606.ENSP00000258829; -.
DR BioMuta; NKX2-8; -.
DR EPD; O15522; -.
DR MassIVE; O15522; -.
DR PaxDb; O15522; -.
DR PeptideAtlas; O15522; -.
DR PRIDE; O15522; -.
DR ProteomicsDB; 48722; -.
DR Antibodypedia; 9891; 199 antibodies from 28 providers.
DR DNASU; 26257; -.
DR Ensembl; ENST00000258829.6; ENSP00000258829.4; ENSG00000136327.7.
DR GeneID; 26257; -.
DR KEGG; hsa:26257; -.
DR MANE-Select; ENST00000258829.6; ENSP00000258829.4; NM_014360.4; NP_055175.2.
DR UCSC; uc001wtx.4; human.
DR CTD; 26257; -.
DR DisGeNET; 26257; -.
DR GeneCards; NKX2-8; -.
DR HGNC; HGNC:16364; NKX2-8.
DR HPA; ENSG00000136327; Tissue enhanced (brain, esophagus, testis).
DR MIM; 603245; gene.
DR neXtProt; NX_O15522; -.
DR OpenTargets; ENSG00000136327; -.
DR PharmGKB; PA38402; -.
DR VEuPathDB; HostDB:ENSG00000136327; -.
DR eggNOG; KOG0842; Eukaryota.
DR GeneTree; ENSGT00940000161610; -.
DR HOGENOM; CLU_049543_0_3_1; -.
DR InParanoid; O15522; -.
DR OMA; AYQHLAH; -.
DR OrthoDB; 1596695at2759; -.
DR PhylomeDB; O15522; -.
DR TreeFam; TF351204; -.
DR PathwayCommons; O15522; -.
DR SignaLink; O15522; -.
DR BioGRID-ORCS; 26257; 9 hits in 1068 CRISPR screens.
DR GenomeRNAi; 26257; -.
DR Pharos; O15522; Tbio.
DR PRO; PR:O15522; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; O15522; protein.
DR Bgee; ENSG00000136327; Expressed in C1 segment of cervical spinal cord and 49 other tissues.
DR Genevisible; O15522; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0003690; F:double-stranded DNA binding; IDA:UniProtKB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:UniProtKB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0007409; P:axonogenesis; IEA:Ensembl.
DR GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
DR GO; GO:0050673; P:epithelial cell proliferation; IEA:Ensembl.
DR GO; GO:0001889; P:liver development; NAS:UniProtKB.
DR GO; GO:0030324; P:lung development; IEA:Ensembl.
DR GO; GO:0050680; P:negative regulation of epithelial cell proliferation; IEA:Ensembl.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0006366; P:transcription by RNA polymerase II; IDA:UniProtKB.
DR GO; GO:0006351; P:transcription, DNA-templated; IDA:UniProtKB.
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..239
FT /note="Homeobox protein Nkx-2.8"
FT /id="PRO_0000048943"
FT DNA_BIND 84..143
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 1..87
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 55..74
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 16
FT /note="D -> A"
FT /id="VAR_003753"
FT CONFLICT 16
FT /note="D -> G (in Ref. 1; AAC71081/AAC71082)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 239 AA; 25866 MW; E227378CCD6E9D27 CRC64;
MATSGRLSFT VRSLLDLPEQ DAQHLPRREP EPRAPQPDPC AAWLDSERGH YPSSDESSLE
TSPPDSSQRP SARPASPGSD AEKRKKRRVL FSKAQTLELE RRFRQQRYLS APEREQLASL
LRLTPTQVKI WFQNHRYKLK RARAPGAAES PDLAASAELH AAPGLLRRVV VPVLVRDGQP
CGGGGGGEVG TAAAQEKCGA PPAAACPLPG YPAFGPGSAL GLFPAYQHLA SPALVSWNW
