true1990-04-012024-03-27218HXB1_HUMANThe human HOX gene family.Acampora D.D'Esposito M.Faiella A.Pannese M.Migliaccio E.Morelli F.Stornaiuolo A.Nigro V.Simeone A.Boncinelli E.doi:10.1093/nar/17.24.103851989Nucleic Acids Res.1710385-10402NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)VARIANT GLY-265DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.Zody M.C.Garber M.Adams D.J.Sharpe T.Harrow J.Lupski J.R.Nicholson C.Searle S.M.Wilming L.Young S.K.Abouelleil A.Allen N.R.Bi W.Bloom T.Borowsky M.L.Bugalter B.E.Butler J.Chang J.L.Chen C.-K.Cook A.Corum B.Cuomo C.A.de Jong P.J.DeCaprio D.Dewar K.FitzGerald M.Gilbert J.Gibson R.Gnerre S.Goldstein S.Grafham D.V.Grocock R.Hafez N.Hagopian D.S.Hart E.Norman C.H.Humphray S.Jaffe D.B.Jones M.Kamal M.Khodiyar V.K.LaButti K.Laird G.Lehoczky J.Liu X.Lokyitsang T.Loveland J.Lui A.Macdonald P.Major J.E.Matthews L.Mauceli E.McCarroll S.A.Mihalev A.H.Mudge J.Nguyen C.Nicol R.O'Leary S.B.Osoegawa K.Schwartz D.C.Shaw-Smith C.Stankiewicz P.Steward C.Swarbreck D.Venkataraman V.Whittaker C.A.Yang X.Zimmer A.R.Bradley A.Hubbard T.Birren B.W.Rogers J.Lander E.S.Nusbaum C.doi:10.1038/nature046892006Nature4401045-1049NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).The MGC Project Teamdoi:10.1101/gr.25965042004Genome Res.142121-2127NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)Organization of human class I homeobox genes.Boncinelli E.Acampora D.Pannese M.D'Esposito M.Somma R.Gaudino G.Stornaiuolo A.Cafiero M.Faiella A.Simeone A.doi:10.1139/g89-1331989Genome31745-756NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 203-268VARIANT GLY-265Structure of a HoxB1-Pbx1 heterodimer bound to DNA: role of the hexapeptide and a fourth homeodomain helix in complex formation.Piper D.E.Batchelor A.H.Chang C.-P.Cleary M.L.Wolberger C.doi:10.1016/s0092-8674(00)80662-51999Cell96587-597X-RAY CRYSTALLOGRAPHY (2.35 ANGSTROMS) OF 170-266 IN COMPLEX WITH PBX1A genetic polymorphism in the human HOXB1 homeobox gene implying a 9bp tandem repeat in the amino-terminal coding region.Faiella A.Zortea M.Barbaria E.Albani F.Capra V.Cama A.Boncinelli E.1998Hum. Mutat.12363VARIANT HOXB1*B HIS-SER-ALA-27 INSDiscovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders.Ingram J.L.Stodgell C.J.Hyman S.L.Figlewicz D.A.Weitkamp L.R.Rodier P.M.doi:10.1002/1096-9926(200012)62:6<393::aid-tera6>3.0.co;2-v2000Teratology62393-405VARIANT HOXB1*B HIS-SER-ALA-27 INSHOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1(-/-) mice.Webb B.D.Shaaban S.Gaspar H.Cunha L.F.Schubert C.R.Hao K.Robson C.D.Chan W.M.Andrews C.Mackinnon S.Oystreck D.T.Hunter D.G.Iacovelli A.J.Ye X.Camminady A.Engle E.C.Jabs E.W.doi:10.1016/j.ajhg.2012.05.0182012Am. J. Hum. Genet.91171-179VARIANT HCFP3 CYS-207CHARACTERIZATION OF VARIANT HCFP3 CYS-207WJHU2I2.35A=170-2644223 sites, 1 O-linked glycan (3 sites)391 antibodies from 35 providershumanHOXB1Not detectedgenephenotypeCongenital hereditary facial paralysis-variable hearing loss syndromeEukaryotaActivation of anterior HOX genes in hindbrain development during early embryogenesis11 hits in 1165 CRISPR screensTbioProteinExpressed in primordial germ cell in gonad and 21 other cell types or tissueshomeodomainHomeodomain-likeHomeobox-like_sfHomeobox_CSHomeobox_domHomeobox_metazoaHXA1/B1/D1HOMEOBOX PROTEIN HOX-B1HOMEOBOX PROTEIN ROUGH-RELATEDHomeodomainHOMEOBOXHOXHomeodomain-likeHOMEOBOX_1HOMEOBOX_2HSHomeobox protein Hox-B1Homeobox protein Hox-2IHOXB1HOX2ISequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures.The two common alleles; HOX1B*A and HOX1B*B have a frequency of 78.8% and 21.2% respectively.The disease is caused by variants affecting the gene represented in this entry.Belongs to the Antp homeobox family. Labial subfamily.Homeobox protein Hox-B1321931301Homeobox203262Disordered2077Disordered127149Disordered254Antp-type hexapeptide179184Polar residues2241Polar residues5369Polar residues283In isoform 2.GRAQMWPPLLRGPKHLCFPCSDMSWVWAGFFSFSGSGRHR193232In isoform 2.233In allele HOXB1*B.AHSA27N71H103In HCFP3; decreased transactivation activity at low DNA concentrations; increased transactivation activity at high DNA concentrations compared to wild-type.C207G2651812122222302402442009-07-0723219395b8b06243d19f77391f7927b756b9821MDYNRMNSFLEYPLCNRGPSAYSAHSAPTSFPPSSAQAVDSYASEGRYGGGLSSPAFQQNSGYPAQQPPSTLGVPFPSSAPSGYAPAACSPSYGPSQYYPLGQSEGDGGYFHPSSYGAQLGGLSDGYGAGGAGPGPYPPQHPPYGNEQTASFAPAYADLLSEDKETPCPSEPNTPTARTFDWMKVKRNPPKTAKVSEPGLGSPSGLRTNFTTRQLTELEKEFHFNKYLSRARRVEIAATLELNETQVKIWFQNRRMKQKKREREEGRVPPAPPGCPKEAAGDASDQSTCTSPEASPSSVTS2MDYNRMNSFLEYPLCNRGPSAYSAHSAPTSFPPSSAQAVDSYASEGRYGGGLSSPAFQQNSGYPAQQPPSTLGVPFPSSAPSGYAPAACSPSYGPSQYYPLGQSEGDGGYFHPSSYGAQLGGLSDGYGAGGAGPGPYPPQHPPYGNEQTASFAPAYADLLSEDKETPCPSEPNTPTARTFDWMKVKRNPPKTGRAQMWPPLLRGPKHLCFPCSDMSWVWAGFFSFSGSGRHRtruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetrue