HXB3_HUMAN
ID HXB3_HUMAN Reviewed; 431 AA.
AC P14651; A8K567; B7Z5N8; B7Z5P8; B7ZAD0; D3DTV3; O95615; P17484;
DT 01-APR-1990, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 2.
DT 03-AUG-2022, entry version 198.
DE RecName: Full=Homeobox protein Hox-B3;
DE AltName: Full=Homeobox protein Hox-2.7;
DE AltName: Full=Homeobox protein Hox-2G;
GN Name=HOXB3; Synonyms=HOX2G;
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] (ISOFORM 1), AND VARIANT THR-82.
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 [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT THR-82.
RA Sauvageau G., Thorsteinsdottir U., Hough M.R., Hugo P., Lawrence H.J.,
RA Largman C., Humphries R.K.;
RT "Deregulated expression of HoxB3 in hematopoietic cells causes defective
RT development of alpha beta T Lymphocytes and progressive
RT myeloproliferation.";
RL Submitted (MAY-1996) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT THR-82.
RA Kidd K.K., Busygina V., DeMille M.M.C., Speed W.C., Ruggeri V., Kidd J.R.,
RA Pakstis A.J.;
RT "Overall linkage disequilibrium in 33 populations for highly informative
RT multisite haplotypes spanning the HOXB gene cluster.";
RL Am. J. Hum. Genet. 67:235-235(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT THR-82.
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.
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 188-253.
RC TISSUE=Placenta;
RX PubMed=2570724; DOI=10.1111/j.1432-0436.1989.tb00598.x;
RA Giampaolo A., Acampora D., Zappavigna V., Pannese M., D'Esposito M.,
RA Care A., Faiella A., Stornaiuolo A., Russo G., Simeone A., Boncinelli E.,
RA Peschle C.;
RT "Differential expression of human HOX-2 genes along the anterior-posterior
RT axis in embryonic central nervous system.";
RL Differentiation 40:191-197(1989).
RN [8]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 188-253.
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).
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=P14651-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P14651-2; Sequence=VSP_056434;
CC Name=3;
CC IsoId=P14651-3; Sequence=VSP_056815;
CC -!- DEVELOPMENTAL STAGE: Expressed in whole embryos and fetuses at 5-9
CC weeks from conception.
CC -!- SIMILARITY: Belongs to the Antp homeobox family. {ECO:0000305}.
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DR EMBL; X16667; CAA34657.1; -; mRNA.
DR EMBL; U59298; AAD10852.1; -; mRNA.
DR EMBL; AF287967; AAG31555.1; -; Genomic_DNA.
DR EMBL; AK291182; BAF83871.1; -; mRNA.
DR EMBL; AK299226; BAH12974.1; -; mRNA.
DR EMBL; AK299265; BAH12984.1; -; mRNA.
DR EMBL; AK315102; BAG37563.1; -; mRNA.
DR EMBL; AK316245; BAH14616.1; -; mRNA.
DR EMBL; AC103702; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471109; EAW94739.1; -; Genomic_DNA.
DR EMBL; CH471109; EAW94740.1; -; Genomic_DNA.
DR EMBL; CH471109; EAW94741.1; -; Genomic_DNA.
DR EMBL; X16175; CAA34297.1; -; Genomic_DNA.
DR CCDS; CCDS11528.1; -. [P14651-1]
DR CCDS; CCDS82153.1; -. [P14651-3]
DR CCDS; CCDS82154.1; -. [P14651-2]
DR PIR; S07543; WJHU2G.
DR RefSeq; NP_001317251.1; NM_001330322.1. [P14651-2]
DR RefSeq; NP_001317252.1; NM_001330323.1. [P14651-3]
DR RefSeq; NP_002137.4; NM_002146.4. [P14651-1]
DR RefSeq; XP_005257334.1; XM_005257277.3.
DR RefSeq; XP_006721917.1; XM_006721854.2. [P14651-1]
DR RefSeq; XP_011523010.1; XM_011524708.2. [P14651-3]
DR RefSeq; XP_011523012.1; XM_011524710.1. [P14651-1]
DR RefSeq; XP_011523021.1; XM_011524719.1. [P14651-1]
DR RefSeq; XP_011523022.1; XM_011524720.2. [P14651-1]
DR RefSeq; XP_011523028.1; XM_011524726.2. [P14651-2]
DR AlphaFoldDB; P14651; -.
DR SMR; P14651; -.
DR BioGRID; 109453; 32.
DR ELM; P14651; -.
DR IntAct; P14651; 1.
DR STRING; 9606.ENSP00000417207; -.
DR GlyConnect; 1942; 20 N-Linked glycans (3 sites).
DR GlyGen; P14651; 3 sites, 20 N-linked glycans (3 sites).
DR iPTMnet; P14651; -.
DR PhosphoSitePlus; P14651; -.
DR BioMuta; HOXB3; -.
DR DMDM; 215274007; -.
DR MassIVE; P14651; -.
DR PaxDb; P14651; -.
DR PeptideAtlas; P14651; -.
DR PRIDE; P14651; -.
DR ProteomicsDB; 53070; -. [P14651-1]
DR ProteomicsDB; 6705; -.
DR ProteomicsDB; 7060; -.
DR Antibodypedia; 4079; 154 antibodies from 23 providers.
DR DNASU; 3213; -.
DR Ensembl; ENST00000311626.8; ENSP00000308252.4; ENSG00000120093.12. [P14651-1]
DR Ensembl; ENST00000460160.5; ENSP00000418035.1; ENSG00000120093.12. [P14651-3]
DR Ensembl; ENST00000470495.1; ENSP00000417207.1; ENSG00000120093.12. [P14651-1]
DR Ensembl; ENST00000472863.5; ENSP00000419676.1; ENSG00000120093.12. [P14651-2]
DR Ensembl; ENST00000476342.1; ENSP00000418892.1; ENSG00000120093.12. [P14651-1]
DR Ensembl; ENST00000489475.5; ENSP00000418729.1; ENSG00000120093.12. [P14651-2]
DR Ensembl; ENST00000498678.6; ENSP00000420595.1; ENSG00000120093.12. [P14651-1]
DR GeneID; 3213; -.
DR KEGG; hsa:3213; -.
DR MANE-Select; ENST00000498678.6; ENSP00000420595.1; NM_001384749.1; NP_001371678.1.
DR UCSC; uc002inn.4; human. [P14651-1]
DR CTD; 3213; -.
DR DisGeNET; 3213; -.
DR GeneCards; HOXB3; -.
DR HGNC; HGNC:5114; HOXB3.
DR HPA; ENSG00000120093; Tissue enhanced (epididymis).
DR MIM; 142966; gene.
DR neXtProt; NX_P14651; -.
DR OpenTargets; ENSG00000120093; -.
DR PharmGKB; PA29390; -.
DR VEuPathDB; HostDB:ENSG00000120093; -.
DR eggNOG; KOG0489; Eukaryota.
DR GeneTree; ENSGT00940000159774; -.
DR HOGENOM; CLU_051508_1_0_1; -.
DR InParanoid; P14651; -.
DR OMA; PPLKGCA; -.
DR OrthoDB; 934469at2759; -.
DR PhylomeDB; P14651; -.
DR TreeFam; TF315938; -.
DR PathwayCommons; P14651; -.
DR Reactome; R-HSA-5617472; Activation of anterior HOX genes in hindbrain development during early embryogenesis.
DR SignaLink; P14651; -.
DR SIGNOR; P14651; -.
DR BioGRID-ORCS; 3213; 13 hits in 1104 CRISPR screens.
DR ChiTaRS; HOXB3; human.
DR GeneWiki; HOXB3; -.
DR GenomeRNAi; 3213; -.
DR Pharos; P14651; Tbio.
DR PRO; PR:P14651; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; P14651; protein.
DR Bgee; ENSG00000120093; Expressed in right uterine tube and 169 other tissues.
DR ExpressionAtlas; P14651; baseline and differential.
DR Genevisible; P14651; HS.
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; IDA:NTNU_SB.
DR GO; GO:0001525; P:angiogenesis; IEP:UniProtKB.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IBA:GO_Central.
DR GO; GO:0051216; P:cartilage development; IEA:Ensembl.
DR GO; GO:0060216; P:definitive hemopoiesis; IEA:Ensembl.
DR GO; GO:0048704; P:embryonic skeletal system morphogenesis; IBA:GO_Central.
DR GO; GO:0060324; P:face development; IEA:Ensembl.
DR GO; GO:0021615; P:glossopharyngeal nerve morphogenesis; IEA:Ensembl.
DR GO; GO:0002244; P:hematopoietic progenitor cell differentiation; IEA:Ensembl.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IEA:Ensembl.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0050767; P:regulation of neurogenesis; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0021546; P:rhombomere development; IEA:Ensembl.
DR GO; GO:0030878; P:thyroid gland development; IEA:Ensembl.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR025281; DUF4074.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR001827; Homeobox_Antennapedia_CS.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR Pfam; PF13293; DUF4074; 1.
DR Pfam; PF00046; Homeodomain; 1.
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 2: Evidence at transcript level;
KW Alternative splicing; Developmental protein; DNA-binding; Homeobox;
KW Nucleus; Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..431
FT /note="Homeobox protein Hox-B3"
FT /id="PRO_0000200117"
FT DNA_BIND 188..247
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 63..125
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 137..192
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 246..273
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 381..431
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 129..134
FT /note="Antp-type hexapeptide"
FT COMPBIAS 80..94
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 95..125
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..132
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056815"
FT VAR_SEQ 1..73
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056434"
FT VARIANT 82
FT /note="P -> T (in dbSNP:rs2229304)"
FT /evidence="ECO:0000269|PubMed:2574852, ECO:0000269|Ref.2,
FT ECO:0000269|Ref.3, ECO:0000269|Ref.6"
FT /id="VAR_047729"
FT CONFLICT 100
FT /note="T -> A (in Ref. 4; BAH12984)"
FT /evidence="ECO:0000305"
FT CONFLICT 199..200
FT /note="QL -> HV (in Ref. 2; AAD10852)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 431 AA; 44340 MW; 56D39C0C9496E65A CRC64;
MQKATYYDNA AAALFGGYSS YPGSNGFGFD VPPQPPFQAA THLEGDYQRS ACSLQSLGNA
APHAKSKELN GSCMRPGLAP EPLSAPPGSP PPSAAPTSAT SNSSNGGGPS KSGPPKCGPG
TNSTLTKQIF PWMKESRQTS KLKNNSPGTA EGCGGGGGGG GGGGSGGSGG GGGGGGGGDK
SPPGSAASKR ARTAYTSAQL VELEKEFHFN RYLCRPRRVE MANLLNLSER QIKIWFQNRR
MKYKKDQKAK GLASSSGGPS PAGSPPQPMQ STAGFMNALH SMTPSYESPS PPAFGKAHQN
AYALPSNYQP PLKGCGAPQK YPPTPAPEYE PHVLQANGGA YGTPTMQGSP VYVGGGGYAD
PLPPPAGPSL YGLNHLSHHP SGNLDYNGAP PMAPSQHHGP CEPHPTYTDL SSHHAPPPQG
RIQEAPKLTH L
