HXD4_HUMAN
ID HXD4_HUMAN Reviewed; 255 AA.
AC P09016; B2R9R3; Q96AU0;
DT 01-NOV-1988, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2002, sequence version 3.
DT 03-AUG-2022, entry version 206.
DE RecName: Full=Homeobox protein Hox-D4;
DE AltName: Full=Homeobox protein HHO.C13;
DE AltName: Full=Homeobox protein Hox-4B;
DE AltName: Full=Homeobox protein Hox-5.1;
GN Name=HOXD4; Synonyms=HOX4B;
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], AND VARIANT PRO-123.
RX PubMed=1975093; DOI=10.1093/nar/18.15.4361;
RA Cianetti L., di Cristofaro A., Zappavigna V., Bottero L., Boccoli G.,
RA Testa U., Russo G., Boncinelli E., Peschle C.;
RT "Molecular mechanisms underlying the expression of the human HOX-5.1
RT gene.";
RL Nucleic Acids Res. 18:4361-4368(1990).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=2879245; DOI=10.1038/324664a0;
RA Mavilio F., Simeone A., Giampaolo A., Faiella A., Zappavigna V.,
RA Acampora D., Poiana G., Russo G., Peschle C., Boncinelli E.;
RT "Differential and stage-related expression in embryonic tissues of a new
RT human homoeobox gene.";
RL Nature 324:664-668(1986).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT PRO-123.
RC TISSUE=Uterus;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Kidney;
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 154-219.
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 INTERACTION WITH PBX1.
RX PubMed=7791786; DOI=10.1128/mcb.15.7.3786;
RA Lu Q., Knoepfler P.S., Scheele J., Wright D.D., Kamps M.P.;
RT "Both Pbx1 and E2A-Pbx1 bind the DNA motif ATCAATCAA cooperatively with the
RT products of multiple murine Hox genes, some of which are themselves
RT oncogenes.";
RL Mol. Cell. Biol. 15:3786-3795(1995).
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: Forms a DNA-binding heterodimer with transcription factor
CC PBX1. {ECO:0000269|PubMed:7791786}.
CC -!- INTERACTION:
CC P09016; Q9NW38: FANCL; NbExp=3; IntAct=EBI-12822515, EBI-2339898;
CC P09016; Q9BYU1: PBX4; NbExp=3; IntAct=EBI-12822515, EBI-10302990;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- SIMILARITY: Belongs to the Antp homeobox family. Deformed subfamily.
CC {ECO:0000305}.
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DR EMBL; X17360; CAA35237.1; -; Genomic_DNA.
DR EMBL; X04706; CAA28411.1; -; mRNA.
DR EMBL; AK313885; BAG36610.1; -; mRNA.
DR EMBL; BC016763; AAH16763.1; -; mRNA.
DR EMBL; BC074797; AAH74797.1; -; mRNA.
DR CCDS; CCDS2269.1; -.
DR PIR; S10985; WJHU4B.
DR RefSeq; NP_055436.2; NM_014621.2.
DR AlphaFoldDB; P09016; -.
DR SMR; P09016; -.
DR BioGRID; 109473; 26.
DR ELM; P09016; -.
DR IntAct; P09016; 19.
DR STRING; 9606.ENSP00000302548; -.
DR iPTMnet; P09016; -.
DR PhosphoSitePlus; P09016; -.
DR BioMuta; HOXD4; -.
DR DMDM; 20141491; -.
DR MassIVE; P09016; -.
DR MaxQB; P09016; -.
DR PaxDb; P09016; -.
DR PeptideAtlas; P09016; -.
DR PRIDE; P09016; -.
DR ProteomicsDB; 52185; -.
DR Antibodypedia; 19523; 221 antibodies from 23 providers.
DR DNASU; 3233; -.
DR Ensembl; ENST00000306324.4; ENSP00000302548.3; ENSG00000170166.6.
DR GeneID; 3233; -.
DR KEGG; hsa:3233; -.
DR MANE-Select; ENST00000306324.4; ENSP00000302548.3; NM_014621.3; NP_055436.2.
DR UCSC; uc002uks.4; human.
DR CTD; 3233; -.
DR DisGeNET; 3233; -.
DR GeneCards; HOXD4; -.
DR HGNC; HGNC:5138; HOXD4.
DR HPA; ENSG00000170166; Tissue enhanced (endometrium, epididymis).
DR MIM; 142981; gene+phenotype.
DR neXtProt; NX_P09016; -.
DR OpenTargets; ENSG00000170166; -.
DR PharmGKB; PA29412; -.
DR VEuPathDB; HostDB:ENSG00000170166; -.
DR eggNOG; KOG0489; Eukaryota.
DR GeneTree; ENSGT00940000157270; -.
DR HOGENOM; CLU_061398_0_0_1; -.
DR InParanoid; P09016; -.
DR OMA; TDFQPPG; -.
DR OrthoDB; 1154159at2759; -.
DR PhylomeDB; P09016; -.
DR TreeFam; TF352857; -.
DR PathwayCommons; P09016; -.
DR Reactome; R-HSA-5617472; Activation of anterior HOX genes in hindbrain development during early embryogenesis.
DR SignaLink; P09016; -.
DR BioGRID-ORCS; 3233; 7 hits in 1094 CRISPR screens.
DR GeneWiki; HOXD4; -.
DR GenomeRNAi; 3233; -.
DR Pharos; P09016; Tbio.
DR PRO; PR:P09016; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; P09016; protein.
DR Bgee; ENSG00000170166; Expressed in body of uterus and 75 other tissues.
DR Genevisible; P09016; HS.
DR GO; GO:0030054; C:cell junction; 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:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:NTNU_SB.
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:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IMP:NTNU_SB.
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:0048568; P:embryonic organ development; IEP:UniProtKB.
DR GO; GO:0048704; P:embryonic skeletal system morphogenesis; IBA:GO_Central.
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:0048863; P:stem cell differentiation; IEA:Ensembl.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017995; Homeobox_antennapedia.
DR InterPro; IPR001827; Homeobox_Antennapedia_CS.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00025; ANTENNAPEDIA.
DR PRINTS; PR00024; HOMEOBOX.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00032; ANTENNAPEDIA; 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;
KW Transcription; Transcription regulation.
FT CHAIN 1..255
FT /note="Homeobox protein Hox-D4"
FT /id="PRO_0000200210"
FT DNA_BIND 154..213
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 31..127
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 212..255
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 133..138
FT /note="Antp-type hexapeptide"
FT COMPBIAS 92..109
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 219..240
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 123
FT /note="S -> P (in dbSNP:rs34727427)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:1975093"
FT /id="VAR_067445"
FT CONFLICT 142
FT /note="V -> A (in Ref. 2; CAA28411)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 255 AA; 27885 MW; 39205343CDB0142F CRC64;
MVMSSYMVNS KYVDPKFPPC EEYLQGGYLG EQGADYYGGG AQGADFQPPG LYPRPDFGEQ
PFGGSGPGPG SALPARGHGQ EPGGPGGHYA APGEPCPAPP APPPAPLPGA RAYSQSDPKQ
PPSGTALKQP AVVYPWMKKV HVNSVNPNYT GGEPKRSRTA YTRQQVLELE KEFHFNRYLT
RRRRIEIAHT LCLSERQIKI WFQNRRMKWK KDHKLPNTKG RSSSSSSSSS CSSSVAPSQH
LQPMAKDHHT DLTTL
