Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HOXB1 Gene

Aliases for HOXB1 Gene

  • Homeobox B1 2 3
  • HOX2I 3 4 6
  • Homeobox Protein Hox-2I 3 4
  • HCFP3 3 6
  • Homeobox Protein Hox-B1 3
  • Homeo Box B1 2
  • Hox-2.9 3
  • HOX2 3

External Ids for HOXB1 Gene

Previous HGNC Symbols for HOXB1 Gene

  • HOX2
  • HOX2I

Previous GeneCards Identifiers for HOXB1 Gene

  • GC17M046317
  • GC17M049087
  • GC17M046948
  • GC17M047081
  • GC17M043961
  • GC17M046606
  • GC17M041976

Summaries for HOXB1 Gene

Entrez Gene Summary for HOXB1 Gene

  • 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]

GeneCards Summary for HOXB1 Gene

HOXB1 (Homeobox B1) is a Protein Coding gene. Diseases associated with HOXB1 include facial paresis, hereditary congenital, 3 and congenital hereditary facial paralysis with variable hearing loss. Among its related pathways are Neural Crest Differentiation and Transcriptional Regulatory Network in Embryonic Stem Cell. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein domain specific binding. An important paralog of this gene is EVX1.

UniProtKB/Swiss-Prot for HOXB1 Gene

  • 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

Gene Wiki entry for HOXB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HOXB1 Gene

Genomics for HOXB1 Gene

Regulatory Elements for HOXB1 Gene

Genomic Location for HOXB1 Gene

48,528,526 bp from pter
48,530,997 bp from pter
2,472 bases
Minus strand

Genomic View for HOXB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HOXB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOXB1 Gene

Proteins for HOXB1 Gene

  • Protein details for HOXB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Homeobox protein Hox-B1
    Protein Accession:
    Secondary Accessions:
    • Q4VB03

    Protein attributes for HOXB1 Gene

    301 amino acids
    Molecular mass:
    32193 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for HOXB1 Gene

    Alternative splice isoforms for HOXB1 Gene


neXtProt entry for HOXB1 Gene

Proteomics data for HOXB1 Gene at MOPED

Post-translational modifications for HOXB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HOXB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HOXB1 Gene

Domains for HOXB1 Gene

Gene Families for HOXB1 Gene

  • HOXL :Homeoboxes / ANTP class : HOXL subclass

Suggested Antigen Peptide Sequences for HOXB1 Gene

Graphical View of Domain Structure for InterPro Entry



  • P14653
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the Antp homeobox family. Labial subfamily.
genes like me logo Genes that share domains with HOXB1: view

Function for HOXB1 Gene

Molecular function for HOXB1 Gene

GENATLAS Biochemistry: homeo box B1(2I),homologous to mouse Hox-2.9,Drosophila lab
UniProtKB/Swiss-Prot 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

Gene Ontology (GO) - Molecular Function for HOXB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 10052460
GO:0019904 protein domain specific binding IPI 10052460
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with HOXB1: view
genes like me logo Genes that share phenotypes with HOXB1: view

Animal Models for HOXB1 Gene

MGI Knock Outs for HOXB1:

miRNA for HOXB1 Gene

miRTarBase miRNAs that target HOXB1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for HOXB1 Gene

Localization for HOXB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOXB1 Gene

Subcellular locations from

Jensen Localization Image for HOXB1 Gene COMPARTMENTS Subcellular localization image for HOXB1 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for HOXB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with HOXB1: view

Pathways for HOXB1 Gene

genes like me logo Genes that share pathways with HOXB1: view

Pathways by source for HOXB1 Gene

1 BioSystems pathway for HOXB1 Gene

Gene Ontology (GO) - Biological Process for HOXB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated TAS 10052460
GO:0007275 multicellular organismal development NAS 10052460
GO:0007389 pattern specification process TAS 10052460
GO:0009653 anatomical structure morphogenesis --
genes like me logo Genes that share ontologies with HOXB1: view

Compounds for HOXB1 Gene

(2) Novoseek inferred chemical compound relationships for HOXB1 Gene

Compound -log(P) Hits PubMed IDs
retinoic acid 67 11
retinoid 56.6 1
genes like me logo Genes that share compounds with HOXB1: view

Transcripts for HOXB1 Gene

mRNA/cDNA for HOXB1 Gene

(2) Selected AceView cDNA sequences:
(5) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HOXB1 Gene

Homeobox B1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HOXB1 Gene

No ASD Table

Relevant External Links for HOXB1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HOXB1 Gene

mRNA expression in normal human tissues for HOXB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HOXB1 Gene

This gene is overexpressed in Testis (9.8), Esophagus - Mucosa (8.6), Kidney - Cortex (5.2), Vagina (4.7), and Skin - Sun Exposed (Lower leg) (4.5).

SOURCE GeneReport for Unigene cluster for HOXB1 Gene Hs.99992

genes like me logo Genes that share expressions with HOXB1: view

No data available for Protein expression and mRNA Expression by UniProt/SwissProt for HOXB1 Gene

Orthologs for HOXB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HOXB1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HOXB1 35
  • 99.45 (n)
  • 99.34 (a)
HOXB1 36
  • 99 (a)
(Bos Taurus)
Mammalia HOXB1 35
  • 87.71 (n)
  • 88.37 (a)
HOXB1 36
  • 88 (a)
(Canis familiaris)
Mammalia HOXB1 35
  • 87.93 (n)
  • 91.36 (a)
HOXB1 36
  • 91 (a)
(Mus musculus)
Mammalia Hoxb1 35
  • 84.51 (n)
  • 86.87 (a)
Hoxb1 16
Hoxb1 36
  • 87 (a)
(Monodelphis domestica)
Mammalia HOXB1 36
  • 75 (a)
(Ornithorhynchus anatinus)
Mammalia HOXB1 36
  • 69 (a)
(Rattus norvegicus)
Mammalia Hoxb1 35
  • 84.62 (n)
  • 87.54 (a)
(Gallus gallus)
Aves HOXB1 35
  • 66.67 (n)
  • 62.89 (a)
HOXB1 36
  • 55 (a)
(Anolis carolinensis)
Reptilia HOXB1 36
  • 40 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hoxb1 35
  • 59.17 (n)
  • 55.36 (a)
(Danio rerio)
Actinopterygii hoxb1a 35
  • 54.11 (n)
  • 51.76 (a)
hoxb1a 36
  • 42 (a)
hoxb1b 36
  • 41 (a)
fruit fly
(Drosophila melanogaster)
Insecta zen2 36
  • 21 (a)
Species with no ortholog for HOXB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HOXB1 Gene

Gene Tree for HOXB1 (if available)
Gene Tree for HOXB1 (if available)

Paralogs for HOXB1 Gene

genes like me logo Genes that share paralogs with HOXB1: view

Variants for HOXB1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for HOXB1 Gene

The two common alleles; HOX1B*A and HOX1B*B have a frequency of 78.8% and 21.2% respectively

Sequence variations from dbSNP and Humsavar for HOXB1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs2059603 -- 48,531,147(+) CAAGC(A/G)TTAGC upstream-variant-2KB
rs7207109 -- 48,530,455(+) AAGCT(C/T)GCGGT synonymous-codon, reference
rs7226137 - 48,529,659(+) GACCT(C/T)CCTCT reference, missense
rs8073963 -- 48,532,556(+) TCTCT(A/G)TAAAC upstream-variant-2KB
rs8074125 -- 48,532,698(+) CCCCT(G/T)CAGTC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for HOXB1 Gene

Variant ID Type Subtype PubMed ID
nsv833469 CNV Loss 17160897
dgv3222n71 CNV Loss 21882294
dgv3223n71 CNV Loss 21882294
dgv988e1 CNV Complex 17122850

Relevant External Links for HOXB1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

Disorders for HOXB1 Gene

(1) OMIM Diseases for HOXB1 Gene (142968)


  • 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. {ECO:0000269 PubMed:22770981}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for HOXB1 Gene

Relevant External Links for HOXB1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with HOXB1: view

Publications for HOXB1 Gene

  1. Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders. (PMID: 11091361) Ingram J.L. … Rodier P.M. (Teratology 2000) 3 4 23
  2. Vertebrate homeobox gene nomenclature. (PMID: 1358459) Scott M.P. (Cell 1992) 2 3
  3. Nomenclature for human homeobox genes. (PMID: 1973146) McAlpine P.J. … Shows T.B. (Genomics 1990) 2 3
  4. The human HOX gene family. (PMID: 2574852) Acampora D. … Boncinelli E. (Nucleic Acids Res. 1989) 3 4
  5. Organization of human class I homeobox genes. (PMID: 2576652) Boncinelli E. … Simeone A. (Genome 1989) 3 4

Products for HOXB1 Gene

Sources for HOXB1 Gene

Back to Top