Description: Homo sapiens homeobox B1 (HOXB1), mRNA. RefSeq Summary (NM_002144): This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr17:46,606,807-46,608,272 Size: 1,466 Total Exon Count: 2 Strand: - Coding Region Position: hg19 chr17:46,606,909-46,608,266 Size: 1,358 Coding Exon Count: 2
ID:HXB1_HUMAN DESCRIPTION: RecName: Full=Homeobox protein Hox-B1; AltName: Full=Homeobox protein Hox-2I; FUNCTION: Sequence-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. SUBCELLULAR LOCATION: Nucleus. POLYMORPHISM: The two common alleles; HOX1B*A and HOX1B*B have a frequency of 78.8% and 21.2% respectively. DISEASE: Defects in HOXB1 are the cause of facial paresis, hereditary congenital, 3 (HCFP3) [MIM:614744]. A form of facial paresis, a disease characterized by isolated dysfunction of the facial nerve (CN VII). HCFP3 patients are affected by bilateral facial palsy, facial muscle weakness of muscles innervated by CN VII, hearing loss, and strabismus. SIMILARITY: Belongs to the Antp homeobox family. Labial subfamily. SIMILARITY: Contains 1 homeobox DNA-binding domain.
Odontogenesis Demetris Pillas et al. PLoS genetics 2010, Genome-wide association study reveals multiple loci associated with primary tooth development during infancy., PLoS genetics.
[PubMed 20195514]
primary tooth development Pillas ,et al. PLoS Genet 2010, Genome-Wide Association Study Reveals Multiple Loci Associated with Primary Tooth Development during Infancy , PLoS genetics 2010 6- 2 : e1000856.
[PubMed 20195514]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P14653
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0003677 DNA binding GO:0019904 protein domain specific binding GO:0043565 sequence-specific DNA binding
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006366 transcription from RNA polymerase II promoter GO:0007275 multicellular organism development GO:0007389 pattern specification process GO:0045944 positive regulation of transcription from RNA polymerase II promoter
Protein P14653 (Reactome details) participates in the following event(s):
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis R-HSA-5619507 Activation of HOX genes during differentiation R-HSA-1266738 Developmental Biology
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
