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 24-JAN-2024, entry version 206. 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}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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. DR RefSeq; XP_011523010.1; XM_011524708.2. [P14651-3] DR RefSeq; XP_011523012.1; XM_011524710.1. DR RefSeq; XP_011523021.1; XM_011524719.1. DR RefSeq; XP_011523022.1; XM_011524720.2. 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 GlyCosmos; P14651; 3 sites, 20 glycans. 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; 9606-ENSP00000417207; -. DR PeptideAtlas; P14651; -. DR ProteomicsDB; 53070; -. [P14651-1] DR ProteomicsDB; 6705; -. DR ProteomicsDB; 7060; -. DR Antibodypedia; 4079; 162 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 AGR; HGNC:5114; -. 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; GCAAPQK; -. DR OrthoDB; 728401at2759; -. 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 1185 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 171 other cell types or tissues. DR ExpressionAtlas; P14651; baseline and differential. 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 Gene3D; 1.10.10.60; Homeodomain-like; 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 PANTHER; PTHR45664:SF11; HOMEOBOX PROTEIN HOX-B3; 1. DR PANTHER; PTHR45664; PROTEIN ZERKNUELLT 1-RELATED; 1. DR Pfam; PF13293; DUF4074; 1. DR Pfam; PF00046; Homeodomain; 1. DR PRINTS; PR00024; HOMEOBOX. DR SMART; SM00389; HOX; 1. DR SUPFAM; SSF46689; Homeodomain-like; 1. DR PROSITE; PS00032; ANTENNAPEDIA; 1. DR PROSITE; PS00027; HOMEOBOX_1; 1. DR PROSITE; PS50071; HOMEOBOX_2; 1. DR Genevisible; P14651; HS. 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 //