HXB8_HUMAN
ID HXB8_HUMAN Reviewed; 243 AA.
AC P17481; Q9H1I2;
DT 01-AUG-1990, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2002, sequence version 2.
DT 03-AUG-2022, entry version 188.
DE RecName: Full=Homeobox protein Hox-B8;
DE AltName: Full=Homeobox protein Hox-2.4;
DE AltName: Full=Homeobox protein Hox-2D;
GN Name=HOXB8; Synonyms=HOX2D;
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 [GENOMIC DNA] OF 142-211.
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 [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 146-211.
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 [4]
RP INTERACTION WITH PXB1.
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).
RN [5]
RP INTERACTION WITH PBX1.
RX PubMed=9191052; DOI=10.1038/sj.onc.1201097;
RA Knoepfler P.S., Kamps M.P.;
RT "The highest affinity DNA element bound by Pbx complexes in t(1;19)
RT leukemic cells fails to mediate cooperative DNA-binding or cooperative
RT transactivation by E2a-Pbx1 and class I Hox proteins - evidence for
RT selective targetting of E2a-Pbx1 to a subset of Pbx-recognition elements.";
RL Oncogene 14:2521-2531(1997).
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, ECO:0000269|PubMed:9191052}.
CC -!- SUBCELLULAR LOCATION: Nucleus.
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; AY014294; AAG42143.1; -; Genomic_DNA.
DR EMBL; AY014293; AAG42143.1; JOINED; Genomic_DNA.
DR EMBL; X16173; CAA34295.1; -; Genomic_DNA.
DR CCDS; CCDS11533.1; -.
DR PIR; B37042; B37042.
DR RefSeq; NP_076921.1; NM_024016.3.
DR RefSeq; XP_016880053.1; XM_017024564.1.
DR AlphaFoldDB; P17481; -.
DR SMR; P17481; -.
DR BioGRID; 109458; 47.
DR ELM; P17481; -.
DR STRING; 9606.ENSP00000239144; -.
DR iPTMnet; P17481; -.
DR PhosphoSitePlus; P17481; -.
DR BioMuta; HOXB8; -.
DR DMDM; 20141506; -.
DR jPOST; P17481; -.
DR MassIVE; P17481; -.
DR MaxQB; P17481; -.
DR PaxDb; P17481; -.
DR PeptideAtlas; P17481; -.
DR PRIDE; P17481; -.
DR ProteomicsDB; 53475; -.
DR Antibodypedia; 30298; 215 antibodies from 27 providers.
DR DNASU; 3218; -.
DR Ensembl; ENST00000239144.5; ENSP00000239144.4; ENSG00000120068.7.
DR GeneID; 3218; -.
DR KEGG; hsa:3218; -.
DR MANE-Select; ENST00000239144.5; ENSP00000239144.4; NM_024016.4; NP_076921.1.
DR UCSC; uc002inw.3; human.
DR CTD; 3218; -.
DR DisGeNET; 3218; -.
DR GeneCards; HOXB8; -.
DR HGNC; HGNC:5119; HOXB8.
DR HPA; ENSG00000120068; Group enriched (brain, epididymis, kidney, seminal vesicle).
DR MIM; 142963; gene.
DR neXtProt; NX_P17481; -.
DR OpenTargets; ENSG00000120068; -.
DR PharmGKB; PA29395; -.
DR VEuPathDB; HostDB:ENSG00000120068; -.
DR eggNOG; KOG0489; Eukaryota.
DR GeneTree; ENSGT00940000161529; -.
DR HOGENOM; CLU_061398_1_0_1; -.
DR InParanoid; P17481; -.
DR OMA; SEDCCEK; -.
DR OrthoDB; 976319at2759; -.
DR PhylomeDB; P17481; -.
DR TreeFam; TF316310; -.
DR PathwayCommons; P17481; -.
DR SignaLink; P17481; -.
DR SIGNOR; P17481; -.
DR BioGRID-ORCS; 3218; 10 hits in 1100 CRISPR screens.
DR ChiTaRS; HOXB8; human.
DR GeneWiki; HOXB8; -.
DR GenomeRNAi; 3218; -.
DR Pharos; P17481; Tbio.
DR PRO; PR:P17481; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; P17481; protein.
DR Bgee; ENSG00000120068; Expressed in corpus epididymis and 83 other tissues.
DR ExpressionAtlas; P17481; baseline and differential.
DR Genevisible; P17481; 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: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; IEA:Ensembl.
DR GO; GO:0000977; F:RNA polymerase II transcription 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:0008344; P:adult locomotory behavior; IEA:Ensembl.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IEA:Ensembl.
DR GO; GO:0021516; P:dorsal spinal cord development; IEA:Ensembl.
DR GO; GO:0048704; P:embryonic skeletal system morphogenesis; IEA:Ensembl.
DR GO; GO:0007625; P:grooming behavior; IEA:Ensembl.
DR GO; GO:0045638; P:negative regulation of myeloid cell differentiation; ISS:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0019233; P:sensory perception of pain; IEA:Ensembl.
DR CDD; cd00086; homeodomain; 1.
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 InterPro; IPR000047; HTH_motif.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
DR PRINTS; PR00031; HTHREPRESSR.
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..243
FT /note="Homeobox protein Hox-B8"
FT /id="PRO_0000200148"
FT DNA_BIND 146..205
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 203..243
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 134..139
FT /note="Antp-type hexapeptide"
SQ SEQUENCE 243 AA; 27574 MW; 36982182725F121F CRC64;
MSSYFVNSLF SKYKTGESLR PNYYDCGFAQ DLGGRPTVVY GPSSGGSFQH PSQIQEFYHG
PSSLSTAPYQ QNPCAVACHG DPGNFYGYDP LQRQSLFGAQ DPDLVQYADC KLAAASGLGE
EAEGSEQSPS PTQLFPWMRP QAAAGRRRGR QTYSRYQTLE LEKEFLFNPY LTRKRRIEVS
HALGLTERQV KIWFQNRRMK WKKENNKDKF PSSKCEQEEL EKQKLERAPE AADEGDAQKG
DKK