HXD9_HUMAN
ID HXD9_HUMAN Reviewed; 352 AA.
AC P28356; Q86ST1;
DT 01-DEC-1992, integrated into UniProtKB/Swiss-Prot.
DT 20-APR-2010, sequence version 5.
DT 03-AUG-2022, entry version 184.
DE RecName: Full=Homeobox protein Hox-D9;
DE AltName: Full=Homeobox protein Hox-4C;
DE AltName: Full=Homeobox protein Hox-5.2;
GN Name=HOXD9; Synonyms=HOX4C;
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 [MRNA].
RC TISSUE=Spinal cord;
RX PubMed=1756725; DOI=10.1002/j.1460-2075.1991.tb04996.x;
RA Zappavigna V., Renucci A., Izpisua-Belmonte J.-C., Urier G., Peschle C.,
RA Duboule D.;
RT "HOX4 genes encode transcription factors with potential auto- and cross-
RT regulatory capacities.";
RL EMBO J. 10:4177-4187(1991).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Colon;
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 [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 274-352.
RX PubMed=2568311; DOI=10.1101/gad.3.5.641;
RA Oliver G., Sidell N., Fiske N., Heinzmann C., Mohandas T., Sparkes R.S.,
RA De Robertis E.M.;
RT "Complementary homeo protein gradients in developing limb buds.";
RL Genes Dev. 3:641-650(1989).
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 285-350.
RX PubMed=2574852; DOI=10.1093/nar/17.24.10385;
RA Acampora D., D'Esposito M., Faiella A., Pannese M., Migliaccio E.,
RA Morelli F., Stornaiuolo A., Nigro V., Simeone A., Boncinelli E.;
RT "The human HOX gene family.";
RL Nucleic Acids Res. 17:10385-10402(1989).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-146, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
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 [8]
RP VARIANT GLN-269 DEL.
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).
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 -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- DEVELOPMENTAL STAGE: Expressed in the developing limb buds.
CC -!- SIMILARITY: Belongs to the Abd-B homeobox family. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-11 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH44855.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAA42016.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; X59372; CAA42016.1; ALT_INIT; mRNA.
DR EMBL; AC009336; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC044855; AAH44855.2; ALT_INIT; mRNA.
DR EMBL; X15506; CAA33528.1; -; Genomic_DNA.
DR CCDS; CCDS2267.2; -.
DR PIR; S18649; S18649.
DR RefSeq; NP_055028.3; NM_014213.3.
DR AlphaFoldDB; P28356; -.
DR BMRB; P28356; -.
DR SMR; P28356; -.
DR BioGRID; 109475; 10.
DR IntAct; P28356; 5.
DR STRING; 9606.ENSP00000249499; -.
DR iPTMnet; P28356; -.
DR PhosphoSitePlus; P28356; -.
DR BioMuta; HOXD9; -.
DR DMDM; 294862543; -.
DR jPOST; P28356; -.
DR MassIVE; P28356; -.
DR MaxQB; P28356; -.
DR PaxDb; P28356; -.
DR PeptideAtlas; P28356; -.
DR PRIDE; P28356; -.
DR ProteomicsDB; 54480; -.
DR Antibodypedia; 33907; 207 antibodies from 28 providers.
DR DNASU; 3235; -.
DR Ensembl; ENST00000249499.8; ENSP00000249499.6; ENSG00000128709.13.
DR GeneID; 3235; -.
DR KEGG; hsa:3235; -.
DR MANE-Select; ENST00000249499.8; ENSP00000249499.6; NM_014213.4; NP_055028.3.
DR UCSC; uc010zex.3; human.
DR CTD; 3235; -.
DR DisGeNET; 3235; -.
DR GeneCards; HOXD9; -.
DR HGNC; HGNC:5140; HOXD9.
DR HPA; ENSG00000128709; Tissue enhanced (cervix, endometrium).
DR MIM; 142982; gene.
DR neXtProt; NX_P28356; -.
DR OpenTargets; ENSG00000128709; -.
DR PharmGKB; PA29414; -.
DR VEuPathDB; HostDB:ENSG00000128709; -.
DR eggNOG; KOG0487; Eukaryota.
DR GeneTree; ENSGT00940000161503; -.
DR InParanoid; P28356; -.
DR OMA; MRSWMEP; -.
DR OrthoDB; 976319at2759; -.
DR PhylomeDB; P28356; -.
DR TreeFam; TF317819; -.
DR PathwayCommons; P28356; -.
DR SignaLink; P28356; -.
DR SIGNOR; P28356; -.
DR BioGRID-ORCS; 3235; 18 hits in 1096 CRISPR screens.
DR GeneWiki; HOXD9; -.
DR GenomeRNAi; 3235; -.
DR Pharos; P28356; Tbio.
DR PRO; PR:P28356; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; P28356; protein.
DR Bgee; ENSG00000128709; Expressed in body of uterus and 91 other tissues.
DR Genevisible; P28356; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
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:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0008344; P:adult locomotory behavior; IEA:Ensembl.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IBA:GO_Central.
DR GO; GO:0035115; P:embryonic forelimb morphogenesis; IEA:Ensembl.
DR GO; GO:0048704; P:embryonic skeletal system morphogenesis; IBA:GO_Central.
DR GO; GO:0035137; P:hindlimb morphogenesis; IEA:Ensembl.
DR GO; GO:0030879; P:mammary gland development; IEA:Ensembl.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0048935; P:peripheral nervous system neuron development; IEA:Ensembl.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IEA:Ensembl.
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:0007338; P:single fertilization; IEA:Ensembl.
DR GO; GO:0007519; P:skeletal muscle tissue development; IEA:Ensembl.
DR GO; GO:0006351; P:transcription, DNA-templated; IEA:InterPro.
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; IPR006711; Hox9_activation_N.
DR Pfam; PF00046; Homeodomain; 1.
DR Pfam; PF04617; Hox9_act; 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; Phosphoprotein;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..352
FT /note="Homeobox protein Hox-D9"
FT /id="PRO_0000200220"
FT DNA_BIND 285..344
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 126..208
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 229..276
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 170..208
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 146
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VARIANT 269
FT /note="Missing"
FT /evidence="ECO:0000269|PubMed:11857506"
FT /id="VAR_031851"
FT CONFLICT 144..156
FT /note="GPSPGPSGPANGR -> VPALAPAAQPTGC (in Ref. 3;
FT AAH44855)"
FT /evidence="ECO:0000305"
FT CONFLICT 219..224
FT /note="AATGGT -> GGDGGN (in Ref. 1; CAA42016)"
FT /evidence="ECO:0000305"
FT CONFLICT 276
FT /note="A -> E (in Ref. 1; CAA42016)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 352 AA; 36495 MW; ECBFE68B48C0F532 CRC64;
MLGGSAGRLK MSSSGTLSNY YVDSLIGHEG DEVFAARFGP PGPGAQGRPA GVADGPAATA
AEFASCSFAP RSAVFSASWS AVPSQPPAAA AMSGLYHPYV PPPPLAASAS EPGRYVRSWM
EPLPGFPGGA GGGGGGGGGG PGRGPSPGPS GPANGRHYGI KPETRAAPAP ATAASTTSSS
STSLSSSSKR TECSVARESQ GSSGPEFSCN SFLQEKAAAA TGGTGPGAGI GAATGTGGSS
EPSACSDHPI PGCSLKEEEK QHSQPQQQQL DPNNPAANWI HARSTRKKRC PYTKYQTLEL
EKEFLFNMYL TRDRRYEVAR ILNLTERQVK IWFQNRRMKM KKMSKEKCPK GD
