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Aliases for HOXB1 Gene

Aliases for HOXB1 Gene

  • Homeobox B1 2 3 5
  • Homeobox Protein Hox-2I 3 4
  • HOX2I 3 4
  • Homeobox Protein Hox-B1 3
  • Homeo Box B1 2
  • Hox-2.9 3
  • HCFP3 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 Transcriptional Regulatory Network in Embryonic Stem Cell and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include sequence-specific DNA binding and protein domain specific binding. An important paralog of this gene is HOXA1.

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

Enhancers for HOXB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around HOXB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HOXB1 Gene

Chromosome:
17
Start:
48,528,526 bp from pter
End:
48,530,997 bp from pter
Size:
2,472 bases
Orientation:
Minus strand

Genomic View for HOXB1 Gene

Genes around HOXB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HOXB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P14653-HXB1_HUMAN
    Recommended name:
    Homeobox protein Hox-B1
    Protein Accession:
    P14653
    Secondary Accessions:
    • Q4VB03

    Protein attributes for HOXB1 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for HOXB1 Gene

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 & Families for HOXB1 Gene

Gene Families for HOXB1 Gene

Suggested Antigen Peptide Sequences for HOXB1 Gene

Graphical View of Domain Structure for InterPro Entry

P14653

UniProtKB/Swiss-Prot:

HXB1_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the Antp homeobox family. Labial subfamily.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • 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

Human Phenotype Ontology for HOXB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HOXB1 Gene

MGI Knock Outs for HOXB1:

Animal Model Products

CRISPR Products

miRNA for HOXB1 Gene

miRTarBase miRNAs that target HOXB1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HOXB1

Flow Cytometry Products

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

Localization for HOXB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOXB1 Gene

Subcellular locations from

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

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 & Interactions for HOXB1 Gene

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

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 organism development NAS 10052460
GO:0007389 pattern specification process TAS 10052460
GO:0009653 anatomical structure morphogenesis IEA --
genes like me logo Genes that share ontologies with HOXB1: view

No data available for SIGNOR curated interactions for HOXB1 Gene

Drugs & Compounds for HOXB1 Gene

(2) Additional Compounds for HOXB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HOXB1: view

Transcripts for HOXB1 Gene

mRNA/cDNA for HOXB1 Gene

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

Unigene Clusters for HOXB1 Gene

Homeobox B1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HOXB1

Flow Cytometry Products

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

No ASD Table

Relevant External Links for HOXB1 Gene

GeneLoc Exon Structure for
HOXB1
ECgene alternative splicing isoforms for
HOXB1

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 (x9.8), Esophagus - Mucosa (x8.6), Kidney - Cortex (x5.2), Vagina (x4.7), and Skin - Sun Exposed (Lower leg) (x4.5).

NURSA nuclear receptor signaling pathways regulating expression of HOXB1 Gene:

HOXB1

SOURCE GeneReport for Unigene cluster for HOXB1 Gene:

Hs.99992
genes like me logo Genes that share expression patterns with HOXB1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia HOXB1 34
  • 87.71 (n)
  • 88.37 (a)
HOXB1 35
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HOXB1 34
  • 87.93 (n)
  • 91.36 (a)
HOXB1 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hoxb1 34
  • 84.51 (n)
  • 86.87 (a)
Hoxb1 16
Hoxb1 35
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HOXB1 34
  • 99.45 (n)
  • 99.34 (a)
HOXB1 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hoxb1 34
  • 84.62 (n)
  • 87.54 (a)
oppossum
(Monodelphis domestica)
Mammalia HOXB1 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HOXB1 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves HOXB1 34
  • 66.67 (n)
  • 62.89 (a)
HOXB1 35
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HOXB1 35
  • 40 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hoxb1 34
  • 59.17 (n)
  • 55.36 (a)
zebrafish
(Danio rerio)
Actinopterygii hoxb1a 34
  • 54.11 (n)
  • 51.76 (a)
hoxb1a 35
  • 42 (a)
OneToMany
hoxb1b 35
  • 41 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta zen2 35
  • 21 (a)
ManyToMany
Species where no ortholog for HOXB1 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for HOXB1 (if available)
TreeFam:
Gene Tree for HOXB1 (if available)

Paralogs for HOXB1 Gene

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

HXB1_HUMAN-P14653
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
rs35254561 - 48,530,693(-) TTCGA(A/C)CCTGG reference, missense
rs12939811 - 48,530,596(+) TCTGA(A/C/T)TGACC reference, missense
rs7226137 - 48,529,659(+) GACCT(A/C/T)CCTCT reference, missense
rs387907239 Facial paresis, hereditary congenital, 3 (HCFP3) 48,529,834(-) GCCTC(C/T)GCACC reference, missense
rs2059603 -- 48,531,147(+) CAAGC(A/G)TTAGC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv2758694 CNV gain 17122850
nsv833469 CNV loss 17160897

Variation tolerance for HOXB1 Gene

Residual Variation Intolerance Score: 33.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.30; 76.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HOXB1 Gene

Human Gene Mutation Database (HGMD)
HOXB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HOXB1

Disorders for HOXB1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for HOXB1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
facial paresis, hereditary congenital, 3
  • hereditary congenital facial paresis 3
congenital hereditary facial paralysis with variable hearing loss
  • congenital hereditary facial palsy with variable deafness
facial paralysis
  • facial palsy
facial nerve disease
  • facial nerve diseases
strabismus
- elite association - COSMIC cancer census association via MalaCards
Search HOXB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HXB1_HUMAN
  • 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.

Relevant External Links for HOXB1

Genetic Association Database (GAD)
HOXB1
Human Genome Epidemiology (HuGE) Navigator
HOXB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HOXB1
genes like me logo Genes that share disorders with HOXB1: view

No data available for Genatlas for HOXB1 Gene

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 22 65
  2. HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1(-/-) mice. (PMID: 22770981) Webb B.D. … Jabs E.W. (Am. J. Hum. Genet. 2012) 3 4 65
  3. Genome-wide association study reveals multiple loci associated with primary tooth development during infancy. (PMID: 20195514) Pillas D. … Jarvelin M.R. (PLoS Genet. 2010) 3 46 65
  4. Tethered-hopping model for protein-DNA binding and unbinding based on Sox2-Oct1-Hoxb1 ternary complex simulations. (PMID: 20371328) Lian P. … Wei D. (Biophys. J. 2010) 3 22 65
  5. Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families. (PMID: 11840501) Li J. … Myers R.M. (Am. J. Med. Genet. 2002) 3 46 65

Products for HOXB1 Gene

Sources for HOXB1 Gene

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