HXC9_HUMAN
ID HXC9_HUMAN Reviewed; 260 AA.
AC P31274; B2RCN7; Q9H1I0;
DT 01-JUL-1993, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2002, sequence version 3.
DT 03-AUG-2022, entry version 198.
DE RecName: Full=Homeobox protein Hox-C9;
DE AltName: Full=Homeobox protein Hox-3B;
GN Name=HOXC9; Synonyms=HOX3B;
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].
RX PubMed=11857506; DOI=10.1002/tera.10009;
RA Kosaki K., Kosaki R., Suzuki T., Yoshihashi H., Takahashi T., Sasaki K.,
RA Tomita M., McGinnis W., Matsuo N.;
RT "Complete mutation analysis panel of the 39 human HOX genes.";
RL Teratology 65:50-62(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Synovium;
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 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Eye;
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).
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 192-257.
RX PubMed=2576652; DOI=10.1139/g89-133;
RA Boncinelli E., Acampora D., Pannese M., D'Esposito M., Somma R.,
RA Gaudino G., Stornaiuolo A., Cafiero M., Faiella A., Simeone A.;
RT "Organization of human class I homeobox genes.";
RL Genome 31:745-756(1989).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-159, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [7]
RP STRUCTURE BY NMR OF 192-251 IN COMPLEX WITH GMNN, AND INTERACTION WITH
RP GMNN.
RX PubMed=22615398; DOI=10.1073/pnas.1200874109;
RA Zhou B., Liu C., Xu Z., Zhu G.;
RT "Structural basis for homeodomain recognition by the cell-cycle regulator
RT Geminin.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:8931-8936(2012).
RN [8]
RP VARIANT [LARGE SCALE ANALYSIS] SER-87.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Sequence-specific transcription factor which is part of a
CC developmental regulatory system that provides cells with specific
CC positional identities on the anterior-posterior axis.
CC -!- SUBUNIT: Interacts with Geminin/GMNN, which inhibits transcriptional
CC activity. {ECO:0000269|PubMed:22615398}.
CC -!- INTERACTION:
CC P31274; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-1779423, EBI-3867333;
CC P31274; O75496: GMNN; NbExp=3; IntAct=EBI-1779423, EBI-371669;
CC P31274; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-1779423, EBI-11962084;
CC P31274; O60711: LPXN; NbExp=7; IntAct=EBI-1779423, EBI-744222;
CC P31274; Q9Y5V3: MAGED1; NbExp=3; IntAct=EBI-1779423, EBI-716006;
CC P31274; P35548: MSX2; NbExp=3; IntAct=EBI-1779423, EBI-6447480;
CC P31274; Q8NI38: NFKBID; NbExp=3; IntAct=EBI-1779423, EBI-10271199;
CC P31274; P26367: PAX6; NbExp=3; IntAct=EBI-1779423, EBI-747278;
CC P31274; Q06710: PAX8; NbExp=3; IntAct=EBI-1779423, EBI-2683132;
CC P31274; P40425: PBX2; NbExp=3; IntAct=EBI-1779423, EBI-348489;
CC P31274; Q16633: POU2AF1; NbExp=3; IntAct=EBI-1779423, EBI-943588;
CC P31274; Q96LM6: TEX37; NbExp=3; IntAct=EBI-1779423, EBI-743976;
CC P31274; Q08117-2: TLE5; NbExp=3; IntAct=EBI-1779423, EBI-11741437;
CC P31274; Q6NVU6: UFSP1; NbExp=3; IntAct=EBI-1779423, EBI-12068150;
CC P31274; Q9H0C1: ZMYND12; NbExp=3; IntAct=EBI-1779423, EBI-12030590;
CC P31274; P03120: E2; Xeno; NbExp=3; IntAct=EBI-1779423, EBI-1779322;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- SIMILARITY: Belongs to the Abd-B homeobox family. {ECO:0000305}.
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DR EMBL; AY014302; AAG42151.1; -; Genomic_DNA.
DR EMBL; AY014301; AAG42151.1; JOINED; Genomic_DNA.
DR EMBL; AK000445; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AK315194; BAG37634.1; -; mRNA.
DR EMBL; CH471054; EAW96741.1; -; Genomic_DNA.
DR EMBL; BC053894; AAH53894.1; -; mRNA.
DR CCDS; CCDS8869.1; -.
DR PIR; S15532; S15532.
DR RefSeq; NP_008828.1; NM_006897.2.
DR PDB; 2LP0; NMR; -; A=192-251.
DR PDB; 2MSY; NMR; -; A=184-251.
DR PDBsum; 2LP0; -.
DR PDBsum; 2MSY; -.
DR AlphaFoldDB; P31274; -.
DR BMRB; P31274; -.
DR SMR; P31274; -.
DR BioGRID; 109465; 50.
DR ComplexPortal; CPX-660; HOXC9-Geminin transcriptional repressor complex.
DR IntAct; P31274; 48.
DR MINT; P31274; -.
DR STRING; 9606.ENSP00000302836; -.
DR iPTMnet; P31274; -.
DR PhosphoSitePlus; P31274; -.
DR BioMuta; HOXC9; -.
DR DMDM; 20141537; -.
DR EPD; P31274; -.
DR jPOST; P31274; -.
DR MassIVE; P31274; -.
DR MaxQB; P31274; -.
DR PaxDb; P31274; -.
DR PeptideAtlas; P31274; -.
DR PRIDE; P31274; -.
DR ProteomicsDB; 54774; -.
DR Antibodypedia; 15314; 222 antibodies from 26 providers.
DR DNASU; 3225; -.
DR Ensembl; ENST00000303450.5; ENSP00000302836.4; ENSG00000180806.5.
DR Ensembl; ENST00000508190.1; ENSP00000423861.1; ENSG00000180806.5.
DR GeneID; 3225; -.
DR KEGG; hsa:3225; -.
DR MANE-Select; ENST00000303450.5; ENSP00000302836.4; NM_006897.3; NP_008828.1.
DR UCSC; uc001seq.4; human.
DR CTD; 3225; -.
DR DisGeNET; 3225; -.
DR GeneCards; HOXC9; -.
DR HGNC; HGNC:5130; HOXC9.
DR HPA; ENSG00000180806; Tissue enhanced (skeletal).
DR MIM; 142971; gene.
DR neXtProt; NX_P31274; -.
DR OpenTargets; ENSG00000180806; -.
DR PharmGKB; PA29405; -.
DR VEuPathDB; HostDB:ENSG00000180806; -.
DR eggNOG; KOG0487; Eukaryota.
DR GeneTree; ENSGT00940000160866; -.
DR HOGENOM; CLU_071854_2_0_1; -.
DR InParanoid; P31274; -.
DR OMA; ADYMYAA; -.
DR OrthoDB; 976319at2759; -.
DR PhylomeDB; P31274; -.
DR TreeFam; TF317819; -.
DR PathwayCommons; P31274; -.
DR SignaLink; P31274; -.
DR BioGRID-ORCS; 3225; 34 hits in 1100 CRISPR screens.
DR ChiTaRS; HOXC9; human.
DR GeneWiki; HOXC9; -.
DR GenomeRNAi; 3225; -.
DR Pharos; P31274; Tbio.
DR PRO; PR:P31274; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; P31274; protein.
DR Bgee; ENSG00000180806; Expressed in calcaneal tendon and 98 other tissues.
DR ExpressionAtlas; P31274; baseline and differential.
DR Genevisible; P31274; HS.
DR GO; GO:0016235; C:aggresome; IDA:HPA.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0017053; C:transcription repressor complex; IPI:ComplexPortal.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; 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:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IBA:GO_Central.
DR GO; GO:0048704; P:embryonic skeletal system morphogenesis; IBA:GO_Central.
DR GO; GO:0045786; P:negative regulation of cell cycle; IC:ComplexPortal.
DR GO; GO:0009954; P:proximal/distal pattern formation; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0006351; P:transcription, DNA-templated; IEA:InterPro.
DR CDD; cd00086; homeodomain; 1.
DR IDEAL; IID00448; -.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR InterPro; IPR006711; Hox9_activation_N.
DR InterPro; IPR017112; HXA9/HXB9/HXC9.
DR Pfam; PF00046; Homeodomain; 1.
DR Pfam; PF04617; Hox9_act; 1.
DR PIRSF; PIRSF037109; Homeobox_Hox9; 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 3D-structure; Developmental protein; DNA-binding; Homeobox; Nucleus;
KW Phosphoprotein; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..260
FT /note="Homeobox protein Hox-C9"
FT /id="PRO_0000200184"
FT DNA_BIND 192..251
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 120..181
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 159
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VARIANT 87
FT /note="G -> S (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036267"
FT CONFLICT 47
FT /note="C -> R (in Ref. 2; AK000445)"
FT /evidence="ECO:0000305"
FT STRAND 186..188
FT /evidence="ECO:0007829|PDB:2MSY"
FT STRAND 194..196
FT /evidence="ECO:0007829|PDB:2LP0"
FT HELIX 201..213
FT /evidence="ECO:0007829|PDB:2LP0"
FT HELIX 219..228
FT /evidence="ECO:0007829|PDB:2LP0"
FT HELIX 233..248
FT /evidence="ECO:0007829|PDB:2LP0"
SQ SEQUENCE 260 AA; 29248 MW; 0B278FF94945BC1E CRC64;
MSATGPISNY YVDSLISHDN EDLLASRFPA TGAHPAAARP SGLVPDCSDF PSCSFAPKPA
VFSTSWAPVP SQSSVVYHPY GPQPHLGADT RYMRTWLEPL SGAVSFPSFP AGGRHYALKP
DAYPGRRADC GPGEGRSYPD YMYGSPGELR DRAPQTLPSP EADALAGSKH KEEKADLDPS
NPVANWIHAR STRKKRCPYT KYQTLELEKE FLFNMYLTRD RRYEVARVLN LTERQVKIWF
QNRRMKMKKM NKEKTDKEQS
