HXB1_HUMAN
ID HXB1_HUMAN Reviewed; 301 AA.
AC P14653; Q4VB03;
DT 01-APR-1990, integrated into UniProtKB/Swiss-Prot.
DT 07-JUL-2009, sequence version 2.
DT 03-AUG-2022, entry version 209.
DE RecName: Full=Homeobox protein Hox-B1;
DE AltName: Full=Homeobox protein Hox-2I;
GN Name=HOXB1; Synonyms=HOX2I;
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 GLY-265.
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 [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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 203-268, AND VARIANT GLY-265.
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 [5]
RP X-RAY CRYSTALLOGRAPHY (2.35 ANGSTROMS) OF 170-266 IN COMPLEX WITH PBX1.
RX PubMed=10052460; DOI=10.1016/s0092-8674(00)80662-5;
RA Piper D.E., Batchelor A.H., Chang C.-P., Cleary M.L., Wolberger C.;
RT "Structure of a HoxB1-Pbx1 heterodimer bound to DNA: role of the
RT hexapeptide and a fourth homeodomain helix in complex formation.";
RL Cell 96:587-597(1999).
RN [6]
RP VARIANT HOXB1*B HIS-SER-ALA-27 INS.
RX PubMed=10671062;
RA Faiella A., Zortea M., Barbaria E., Albani F., Capra V., Cama A.,
RA Boncinelli E.;
RT "A genetic polymorphism in the human HOXB1 homeobox gene implying a 9bp
RT tandem repeat in the amino-terminal coding region.";
RL Hum. Mutat. 12:363-363(1998).
RN [7]
RP VARIANT HOXB1*B HIS-SER-ALA-27 INS.
RX PubMed=11091361;
RX DOI=10.1002/1096-9926(200012)62:6<393::aid-tera6>3.0.co;2-v;
RA Ingram J.L., Stodgell C.J., Hyman S.L., Figlewicz D.A., Weitkamp L.R.,
RA Rodier P.M.;
RT "Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility
RT to autism spectrum disorders.";
RL Teratology 62:393-405(2000).
RN [8]
RP VARIANT HCFP3 CYS-207, AND CHARACTERIZATION OF VARIANT HCFP3 CYS-207.
RX PubMed=22770981; DOI=10.1016/j.ajhg.2012.05.018;
RA Webb B.D., Shaaban S., Gaspar H., Cunha L.F., Schubert C.R., Hao K.,
RA Robson C.D., Chan W.M., Andrews C., Mackinnon S., Oystreck D.T.,
RA Hunter D.G., Iacovelli A.J., Ye X., Camminady A., Engle E.C., Jabs E.W.;
RT "HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1(-/-)
RT mice.";
RL Am. J. Hum. Genet. 91:171-179(2012).
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. Acts on the
CC anterior body structures.
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P14653-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P14653-2; Sequence=VSP_056813, VSP_056814;
CC -!- POLYMORPHISM: The two common alleles; HOX1B*A and HOX1B*B have a
CC frequency of 78.8% and 21.2% respectively.
CC -!- DISEASE: Facial paresis, hereditary congenital, 3 (HCFP3) [MIM:614744]:
CC A form of facial paresis, a disease characterized by isolated
CC dysfunction of the facial nerve (CN VII). HCFP3 patients are affected
CC by bilateral facial palsy, facial muscle weakness of muscles innervated
CC by CN VII, hearing loss, and strabismus. {ECO:0000269|PubMed:22770981}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- SIMILARITY: Belongs to the Antp homeobox family. Labial subfamily.
CC {ECO:0000305}.
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DR EMBL; X16666; CAA34656.1; -; mRNA.
DR EMBL; AC103702; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC096191; AAH96191.1; -; mRNA.
DR EMBL; BC099633; AAH99633.1; -; mRNA.
DR CCDS; CCDS32675.1; -. [P14653-1]
DR PIR; S07541; WJHU2I.
DR RefSeq; NP_002135.2; NM_002144.3. [P14653-1]
DR PDB; 1B72; X-ray; 2.35 A; A=170-264.
DR PDBsum; 1B72; -.
DR AlphaFoldDB; P14653; -.
DR SMR; P14653; -.
DR BioGRID; 109451; 42.
DR DIP; DIP-6106N; -.
DR ELM; P14653; -.
DR IntAct; P14653; 2.
DR STRING; 9606.ENSP00000355140; -.
DR iPTMnet; P14653; -.
DR PhosphoSitePlus; P14653; -.
DR BioMuta; HOXB1; -.
DR DMDM; 251757285; -.
DR MassIVE; P14653; -.
DR PaxDb; P14653; -.
DR PRIDE; P14653; -.
DR Antibodypedia; 30258; 353 antibodies from 35 providers.
DR DNASU; 3211; -.
DR Ensembl; ENST00000239174.7; ENSP00000355140.5; ENSG00000120094.9. [P14653-1]
DR Ensembl; ENST00000577092.1; ENSP00000459066.1; ENSG00000120094.9. [P14653-2]
DR GeneID; 3211; -.
DR KEGG; hsa:3211; -.
DR MANE-Select; ENST00000239174.7; ENSP00000355140.5; NM_002144.4; NP_002135.2.
DR UCSC; uc002ink.2; human. [P14653-1]
DR CTD; 3211; -.
DR DisGeNET; 3211; -.
DR GeneCards; HOXB1; -.
DR HGNC; HGNC:5111; HOXB1.
DR HPA; ENSG00000120094; Not detected.
DR MalaCards; HOXB1; -.
DR MIM; 142968; gene.
DR MIM; 614744; phenotype.
DR neXtProt; NX_P14653; -.
DR OpenTargets; ENSG00000120094; -.
DR Orphanet; 306530; Congenital hereditary facial paralysis-variable hearing loss syndrome.
DR PharmGKB; PA29387; -.
DR VEuPathDB; HostDB:ENSG00000120094; -.
DR eggNOG; KOG0489; Eukaryota.
DR GeneTree; ENSGT00940000159503; -.
DR HOGENOM; CLU_058839_1_0_1; -.
DR InParanoid; P14653; -.
DR OMA; LEYAICN; -.
DR OrthoDB; 1216870at2759; -.
DR PhylomeDB; P14653; -.
DR TreeFam; TF317730; -.
DR PathwayCommons; P14653; -.
DR Reactome; R-HSA-5617472; Activation of anterior HOX genes in hindbrain development during early embryogenesis.
DR SignaLink; P14653; -.
DR SIGNOR; P14653; -.
DR BioGRID-ORCS; 3211; 11 hits in 1087 CRISPR screens.
DR EvolutionaryTrace; P14653; -.
DR GeneWiki; HOXB1; -.
DR GenomeRNAi; 3211; -.
DR Pharos; P14653; Tbio.
DR PRO; PR:P14653; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; P14653; protein.
DR Bgee; ENSG00000120094; Expressed in lower esophagus mucosa and 20 other tissues.
DR Genevisible; P14653; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
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:0019904; F:protein domain specific binding; IPI:UniProtKB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
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:0048646; P:anatomical structure formation involved in morphogenesis; IEA:Ensembl.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IEA:Ensembl.
DR GO; GO:0048704; P:embryonic skeletal system morphogenesis; IEA:Ensembl.
DR GO; GO:0021612; P:facial nerve structural organization; IEA:Ensembl.
DR GO; GO:0021754; P:facial nucleus development; IEA:Ensembl.
DR GO; GO:0007389; P:pattern specification process; TAS:UniProtKB.
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:0006355; P:regulation of transcription, DNA-templated; TAS:UniProtKB.
DR GO; GO:0021570; P:rhombomere 4 development; IEA:Ensembl.
DR GO; GO:0021571; P:rhombomere 5 development; IEA:Ensembl.
DR CDD; cd00086; homeodomain; 1.
DR DisProt; DP02414; -.
DR IDEAL; IID00142; -.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR InterPro; IPR046327; HXA1/B1/D1.
DR PANTHER; PTHR45946; PTHR45946; 1.
DR Pfam; PF00046; Homeodomain; 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 3D-structure; Alternative splicing; Developmental protein; Disease variant;
KW DNA-binding; Homeobox; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..301
FT /note="Homeobox protein Hox-B1"
FT /id="PRO_0000200107"
FT DNA_BIND 203..262
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 20..77
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 127..149
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 254..301
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 179..184
FT /note="Antp-type hexapeptide"
FT COMPBIAS 22..41
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 53..69
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 283..301
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 193..232
FT /note="AKVSEPGLGSPSGLRTNFTTRQLTELEKEFHFNKYLSRAR -> GRAQMWPP
FT LLRGPKHLCFPCSDMSWVWAGFFSFSGSGRHR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056813"
FT VAR_SEQ 233..301
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056814"
FT VARIANT 27
FT /note="A -> AHSA (in allele HOXB1*B)"
FT /evidence="ECO:0000269|PubMed:10671062,
FT ECO:0000269|PubMed:11091361"
FT /id="VAR_003817"
FT VARIANT 71
FT /note="T -> N (in dbSNP:rs35254561)"
FT /id="VAR_055959"
FT VARIANT 103
FT /note="Q -> H (in dbSNP:rs12939811)"
FT /id="VAR_055960"
FT VARIANT 207
FT /note="R -> C (in HCFP3; decreased transactivation activity
FT at low DNA concentrations; increased transactivation
FT activity at high DNA concentrations compared to wild-type;
FT dbSNP:rs387907239)"
FT /evidence="ECO:0000269|PubMed:22770981"
FT /id="VAR_068723"
FT VARIANT 265
FT /note="E -> G (in dbSNP:rs7226137)"
FT /evidence="ECO:0000269|PubMed:2574852,
FT ECO:0000269|PubMed:2576652"
FT /id="VAR_058129"
FT HELIX 181..184
FT /evidence="ECO:0007829|PDB:1B72"
FT HELIX 212..222
FT /evidence="ECO:0007829|PDB:1B72"
FT HELIX 230..240
FT /evidence="ECO:0007829|PDB:1B72"
FT HELIX 244..262
FT /evidence="ECO:0007829|PDB:1B72"
SQ SEQUENCE 301 AA; 32193 MW; 6752A8C28AC55D11 CRC64;
MDYNRMNSFL EYPLCNRGPS AYSAHSAPTS FPPSSAQAVD SYASEGRYGG GLSSPAFQQN
SGYPAQQPPS TLGVPFPSSA PSGYAPAACS PSYGPSQYYP LGQSEGDGGY FHPSSYGAQL
GGLSDGYGAG GAGPGPYPPQ HPPYGNEQTA SFAPAYADLL SEDKETPCPS EPNTPTARTF
DWMKVKRNPP KTAKVSEPGL GSPSGLRTNF TTRQLTELEK EFHFNKYLSR ARRVEIAATL
ELNETQVKIW FQNRRMKQKK REREEGRVPP APPGCPKEAA GDASDQSTCT SPEASPSSVT
S
