(data stored in SCRATCH zone)

SWISSPROT: 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   07-SEP-2016, entry version 171.
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;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; 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.,
RA   Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA   Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA   Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA   Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA   Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA   Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA   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
RT   the 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
RT   project: 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;
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
RP   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
RT   9bp 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>3.3.CO;2-M;
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
RT   susceptibility 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.,
RA   Jabs E.W.;
RT   "HOXB1 founder mutation in humans recapitulates the phenotype of
RT   Hoxb1(-/-) mice.";
RL   Am. J. Hum. Genet. 91:171-179(2012).
CC   -!- FUNCTION: Sequence-specific transcription factor which is part of
CC       a developmental regulatory system that provides cells with
CC       specific positional identities on the anterior-posterior axis.
CC       Acts on the 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         Note=No experimental confirmation available.;
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)
CC       [MIM:614744]: A form of facial paresis, a disease characterized by
CC       isolated dysfunction of the facial nerve (CN VII). HCFP3 patients
CC       are affected by bilateral facial palsy, facial muscle weakness of
CC       muscles innervated by CN VII, hearing loss, and strabismus.
CC       {ECO:0000269|PubMed:22770981}. Note=The disease is caused by
CC       mutations affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the Antp homeobox family. Labial subfamily.
CC       {ECO:0000305}.
CC   -!- SIMILARITY: Contains 1 homeobox DNA-binding domain.
CC       {ECO:0000255|PROSITE-ProRule:PRU00108}.
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   UniGene; Hs.99992; -.
DR   PDB; 1B72; X-ray; 2.35 A; A=170-264.
DR   PDBsum; 1B72; -.
DR   ProteinModelPortal; P14653; -.
DR   SMR; P14653; 177-264.
DR   BioGrid; 109451; 5.
DR   DIP; DIP-6106N; -.
DR   IntAct; P14653; 1.
DR   STRING; 9606.ENSP00000355140; -.
DR   iPTMnet; P14653; -.
DR   PhosphoSite; P14653; -.
DR   BioMuta; HOXB1; -.
DR   DMDM; 251757285; -.
DR   PaxDb; P14653; -.
DR   PRIDE; P14653; -.
DR   Ensembl; ENST00000239174; ENSP00000355140; ENSG00000120094. [P14653-1]
DR   Ensembl; ENST00000577092; ENSP00000459066; ENSG00000120094. [P14653-2]
DR   GeneID; 3211; -.
DR   KEGG; hsa:3211; -.
DR   UCSC; uc002ink.2; human. [P14653-1]
DR   CTD; 3211; -.
DR   GeneCards; HOXB1; -.
DR   HGNC; HGNC:5111; HOXB1.
DR   HPA; HPA044576; -.
DR   MalaCards; HOXB1; -.
DR   MIM; 142968; gene.
DR   MIM; 614744; phenotype.
DR   neXtProt; NX_P14653; -.
DR   Orphanet; 306530; Congenital hereditary facial paralysis with variable hearing loss.
DR   PharmGKB; PA29387; -.
DR   eggNOG; KOG0489; Eukaryota.
DR   eggNOG; ENOG410ZTBY; LUCA.
DR   GeneTree; ENSGT00760000118940; -.
DR   HOGENOM; HOG000247020; -.
DR   HOVERGEN; HBG006089; -.
DR   InParanoid; P14653; -.
DR   KO; K09301; -.
DR   OMA; YAICNRG; -.
DR   OrthoDB; EOG091G0LR2; -.
DR   PhylomeDB; P14653; -.
DR   TreeFam; TF317730; -.
DR   Reactome; R-HSA-5617472; Activation of anterior HOX genes in hindbrain development during early embryogenesis.
DR   SIGNOR; P14653; -.
DR   EvolutionaryTrace; P14653; -.
DR   GeneWiki; HOXB1; -.
DR   GenomeRNAi; 3211; -.
DR   PRO; PR:P14653; -.
DR   Proteomes; UP000005640; Chromosome 17.
DR   Bgee; ENSG00000120094; -.
DR   CleanEx; HS_HOXB1; -.
DR   Genevisible; P14653; HS.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR   GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
DR   GO; GO:0019904; F:protein domain specific binding; IPI:UniProtKB.
DR   GO; GO:0043565; F:sequence-specific DNA binding; IEA:Ensembl.
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:0007275; P:multicellular organism development; NAS:UniProtKB.
DR   GO; GO:0007389; P:pattern specification process; TAS:UniProtKB.
DR   GO; GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; IEA:Ensembl.
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   GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
DR   Gene3D; 1.10.10.60; -; 1.
DR   InterPro; IPR017970; Homeobox_CS.
DR   InterPro; IPR001356; Homeobox_dom.
DR   InterPro; IPR020479; Homeobox_metazoa.
DR   InterPro; IPR009057; Homeodomain-like.
DR   Pfam; PF00046; Homeobox; 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;
DR   PRODOM; P14653.
DR   SWISS-2DPAGE; P14653.
KW   3D-structure; Alternative splicing; Complete proteome;
KW   Developmental protein; Disease mutation; DNA-binding; Homeobox;
KW   Nucleus; Polymorphism; Reference proteome; Transcription;
KW   Transcription regulation.
FT   CHAIN         1    301       Homeobox protein Hox-B1.
FT                                /FTId=PRO_0000200107.
FT   DNA_BIND    203    262       Homeobox. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00108}.
FT   MOTIF       179    184       Antp-type hexapeptide.
FT   VAR_SEQ     193    232       AKVSEPGLGSPSGLRTNFTTRQLTELEKEFHFNKYLSRAR
FT                                -> GRAQMWPPLLRGPKHLCFPCSDMSWVWAGFFSFSGSGR
FT                                HR (in isoform 2).
FT                                {ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_056813.
FT   VAR_SEQ     233    301       Missing (in isoform 2).
FT                                {ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_056814.
FT   VARIANT      27     27       A -> AHSA (in allele HOXB1*B).
FT                                {ECO:0000269|PubMed:10671062,
FT                                ECO:0000269|PubMed:11091361}.
FT                                /FTId=VAR_003817.
FT   VARIANT      71     71       T -> N (in dbSNP:rs35254561).
FT                                /FTId=VAR_055959.
FT   VARIANT     103    103       Q -> H (in dbSNP:rs12939811).
FT                                /FTId=VAR_055960.
FT   VARIANT     207    207       R -> C (in HCFP3; decreased
FT                                transactivation activity at low DNA
FT                                concentrations; increased transactivation
FT                                activity at high DNA concentrations
FT                                compared to wild-type;
FT                                dbSNP:rs387907239).
FT                                {ECO:0000269|PubMed:22770981}.
FT                                /FTId=VAR_068723.
FT   VARIANT     265    265       E -> G (in dbSNP:rs7226137).
FT                                {ECO:0000269|PubMed:2574852,
FT                                ECO:0000269|PubMed:2576652}.
FT                                /FTId=VAR_058129.
FT   HELIX       181    184       {ECO:0000244|PDB:1B72}.
FT   HELIX       212    222       {ECO:0000244|PDB:1B72}.
FT   HELIX       230    240       {ECO:0000244|PDB:1B72}.
FT   HELIX       244    262       {ECO:0000244|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
//

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