NKX63_HUMAN
ID NKX63_HUMAN Reviewed; 265 AA.
AC A6NJ46; Q96LR0;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 24-JUL-2007, sequence version 1.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=Homeobox protein Nkx-6.3;
GN Name=NKX6-3;
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 MRNA] (ISOFORM 2).
RC TISSUE=Brain;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [3]
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.
CC -!- FUNCTION: Putative transcription factor, which may be involved in
CC patterning of central nervous system and pancreas. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=A6NJ46-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A6NJ46-2; Sequence=VSP_029523;
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DR EMBL; AK057898; BAB71610.1; -; mRNA.
DR EMBL; AC113133; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471080; EAW63251.1; -; Genomic_DNA.
DR EMBL; CH471080; EAW63252.1; -; Genomic_DNA.
DR CCDS; CCDS6118.1; -. [A6NJ46-2]
DR RefSeq; NP_689781.1; NM_152568.3. [A6NJ46-2]
DR RefSeq; XP_016868632.1; XM_017013143.1.
DR AlphaFoldDB; A6NJ46; -.
DR SMR; A6NJ46; -.
DR BioGRID; 127627; 8.
DR STRING; 9606.ENSP00000429553; -.
DR iPTMnet; A6NJ46; -.
DR PhosphoSitePlus; A6NJ46; -.
DR BioMuta; NKX6-3; -.
DR jPOST; A6NJ46; -.
DR MassIVE; A6NJ46; -.
DR PaxDb; A6NJ46; -.
DR PeptideAtlas; A6NJ46; -.
DR PRIDE; A6NJ46; -.
DR ProteomicsDB; 1309; -. [A6NJ46-1]
DR ProteomicsDB; 1310; -. [A6NJ46-2]
DR Antibodypedia; 23941; 144 antibodies from 22 providers.
DR DNASU; 157848; -.
DR Ensembl; ENST00000518699.4; ENSP00000428361.2; ENSG00000165066.13. [A6NJ46-1]
DR Ensembl; ENST00000524115.2; ENSP00000429553.2; ENSG00000165066.13. [A6NJ46-2]
DR GeneID; 157848; -.
DR KEGG; hsa:157848; -.
DR MANE-Select; ENST00000518699.4; ENSP00000428361.2; NM_001364841.2; NP_001351770.1.
DR UCSC; uc003xoa.3; human. [A6NJ46-1]
DR CTD; 157848; -.
DR DisGeNET; 157848; -.
DR GeneCards; NKX6-3; -.
DR HGNC; HGNC:26328; NKX6-3.
DR HPA; ENSG00000165066; Group enriched (intestine, stomach).
DR MIM; 610772; gene.
DR neXtProt; NX_A6NJ46; -.
DR OpenTargets; ENSG00000165066; -.
DR PharmGKB; PA145148400; -.
DR VEuPathDB; HostDB:ENSG00000165066; -.
DR eggNOG; KOG0847; Eukaryota.
DR GeneTree; ENSGT00940000160545; -.
DR HOGENOM; CLU_1895494_0_0_1; -.
DR InParanoid; A6NJ46; -.
DR OMA; GPQVGNF; -.
DR OrthoDB; 1263401at2759; -.
DR PhylomeDB; A6NJ46; -.
DR PathwayCommons; A6NJ46; -.
DR SIGNOR; A6NJ46; -.
DR BioGRID-ORCS; 157848; 17 hits in 1075 CRISPR screens.
DR GenomeRNAi; 157848; -.
DR Pharos; A6NJ46; Tbio.
DR PRO; PR:A6NJ46; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; A6NJ46; protein.
DR Bgee; ENSG00000165066; Expressed in pylorus and 52 other tissues.
DR Genevisible; A6NJ46; 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:ARUK-UCL.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IDA:ARUK-UCL.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:ARUK-UCL.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
DR GO; GO:0001709; P:cell fate determination; IEA:Ensembl.
DR GO; GO:0035883; P:enteroendocrine cell differentiation; IEA:Ensembl.
DR GO; GO:0030857; P:negative regulation of epithelial cell differentiation; IEA:Ensembl.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:ARUK-UCL.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:ARUK-UCL.
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 InterPro; IPR000047; HTH_motif.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
DR PRINTS; PR00031; HTHREPRESSR.
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 Alternative splicing; DNA-binding; Homeobox; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..265
FT /note="Homeobox protein Nkx-6.3"
FT /id="PRO_0000311330"
FT DNA_BIND 139..198
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 196..240
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 222..240
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..184
FT /note="MESNLQGTFLLNNTPLAQFPEMKAPVCQYSVQNSFYKLSPPGLGPQLAAGTP
FT HGITDILSRPVAAPNNSLLSGYPHVAGFGGLSSQGVYYSPQVGNFSKAGNEYPTRTRNC
FT WADTGQDWRGGRQCSNTPDPLSDSIHKKKHTRPTFTGHQIFALEKTFEQTKYLAGPERA
FT RLAYSLGMTESQVK -> MQQGQLAPGSRLCSGPWGLPELQPAAPSSSAAQLPWGESWG
FT EEADTPACLSASG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029523"
SQ SEQUENCE 265 AA; 28948 MW; D8CC4CF5B2201F1C CRC64;
MESNLQGTFL LNNTPLAQFP EMKAPVCQYS VQNSFYKLSP PGLGPQLAAG TPHGITDILS
RPVAAPNNSL LSGYPHVAGF GGLSSQGVYY SPQVGNFSKA GNEYPTRTRN CWADTGQDWR
GGRQCSNTPD PLSDSIHKKK HTRPTFTGHQ IFALEKTFEQ TKYLAGPERA RLAYSLGMTE
SQVKVWFQNR RTKWRKKSAL EPSSSTPRAP GGAGAGAGGD RAPSENEDDE YNKPLDPDSD
DEKIRLLLRK HRAAFSVLSL GAHSV