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 ... See more...

Aliases for HOXB1 Gene

Aliases for HOXB1 Gene

  • Homeobox B1 2 3 5
  • Homeobox Protein Hox-2I 3 4
  • Homeobox Protein Hox-B1 3 4
  • HOX2I 3 4
  • 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-Variable Hearing Loss Syndrome. Among its related pathways are Signaling pathways regulating pluripotency of stem cells and Neural Crest Differentiation. Gene Ontology (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 Summary 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

Additional gene information for HOXB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HOXB1 Gene

Genomics for HOXB1 Gene

GeneHancer (GH) Regulatory Elements for HOXB1 Gene

Promoters and enhancers for HOXB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J048530 Promoter 0.6 EPDnew 500.7 0.0 -10 0.1 USF1 POU5F1 EZH2 USF2 SUZ12 HOXB1 lnc-HOXB2-1
GH17J048538 Promoter/Enhancer 2.9 VISTA EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.1 -42.3 -42279 69 HNRNPK ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A NRF1 TCF12 USF1 GTF2E2 HOXB2 HOXB3 HOXB6 HOXB4 HOXB5 piR-41301 piR-53330 UBE2Z CDK5RAP3 ENSG00000264701
GH17J048491 Promoter/Enhancer 1.7 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 12.1 +38.3 38312 2 HNRNPK ZNF217 CTCF ZSCAN5C NRF1 TCF12 TEAD4 ZNF639 ZNF10 ZIC2 HOXB2 SKAP1 HOXB4 MIR10A HOXB3 HOXB1 HOXB-AS1 HOXB-AS3 HOXB-AS2 UBE2Z
GH17J048437 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.9 +90.4 90414 5.5 ZBTB40 SP1 PHB2 EP300 ZIC2 AFF1 RFX1 RELA MEF2C TOE1 SKAP1 ENSG00000200538 HOXB1 HOXB2 SNX11 CDK5RAP3 LOC101927166 piR-61945-216
GH17J048505 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 12.3 +24.9 24910 2.2 ZNF217 SIN3A TCF12 JUND FOS EP300 CTCF RFX1 CUX1 CTBP1 HSALNG0117098 HOXB2 SKAP1 HOXB-AS1 HOXB1 HOXB4 MIR10A HOXB-AS3 HOXB3 HOXB-AS2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HOXB1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HOXB1

Top Transcription factor binding sites by QIAGEN in the HOXB1 gene promoter:
  • C/EBPalpha
  • CHOP-10
  • FOXO4
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU3F2

Genomic Locations for HOXB1 Gene

Genomic Locations for HOXB1 Gene
chr17:48,528,526-48,531,011
(GRCh38/hg38)
Size:
2,486 bases
Orientation:
Minus strand
chr17:46,605,888-46,608,359
(GRCh37/hg19)
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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for HOXB1 Gene

Blocks:
  • Lambda and other repressor helix-turn-helix signature
  • Homeobox protein, antennapedia type
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HOXB1 Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein Hox-2I (HXB1_HUMAN)
  • HOXB1 protein (Q4VB01_HUMAN)
  • HOXB1 protein (Q4VB03_HUMAN)
  • Homeobox B1 (Q9HB13_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P14653

UniProtKB/Swiss-Prot:

HXB1_HUMAN :
  • Belongs to the Antp homeobox family. Labial subfamily.
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

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.
GENATLAS Biochemistry:
homeo box B1(2I),homologous to mouse Hox-2.9,Drosophila lab

Phenotypes From GWAS Catalog for HOXB1 Gene

Gene Ontology (GO) - Molecular Function for HOXB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 9556594
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 9556594
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 9556594
GO:0003677 DNA binding IDA 10052460
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HOXB1

Clone Products

  • Addgene plasmids for HOXB1

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HOXB1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for HOXB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with HOXB1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HOXB1 Gene

Pathways & Interactions for HOXB1 Gene

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

Pathways by source for HOXB1 Gene

1 Qiagen pathway for HOXB1 Gene
  • Transcriptional Regulatory Network in Embryonic Stem Cell

SIGNOR curated interactions for HOXB1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for HOXB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0009952 anterior/posterior pattern specification IEA --
genes like me logo Genes that share ontologies with HOXB1: view

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 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HOXB1

Clone Products

  • Addgene plasmids for HOXB1

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

No ASD Table

Relevant External Links for HOXB1 Gene

GeneLoc Exon Structure for
HOXB1

Expression for HOXB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HOXB1

SOURCE GeneReport for Unigene cluster for HOXB1 Gene:

Hs.99992

Evidence on tissue expression from TISSUES for HOXB1 Gene

  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HOXB1 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • face
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with HOXB1: view

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
chimpanzee
(Pan troglodytes)
Mammalia HOXB1 31 30
  • 99.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HOXB1 31 30
  • 87.93 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HOXB1 31 30
  • 87.71 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hoxb1 30
  • 84.62 (n)
mouse
(Mus musculus)
Mammalia Hoxb1 17 31 30
  • 84.51 (n)
oppossum
(Monodelphis domestica)
Mammalia HOXB1 31
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HOXB1 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves HOXB1 31 30
  • 66.67 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HOXB1 31
  • 40 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hoxb1 30
  • 59.17 (n)
zebrafish
(Danio rerio)
Actinopterygii hoxb1a 31 30
  • 54.11 (n)
OneToMany
hoxb1b 31
  • 41 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta zen2 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HOXB1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HOXB1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
701835 Benign: not provided 48,530,822(-) G/GGGGCGCTGT INFRAME_INSERTION
701967 Benign: not provided 48,529,751(-) C/T SYNONYMOUS_VARIANT
702086 Benign: not provided 48,530,659(-) C/T SYNONYMOUS_VARIANT
702176 Benign: not provided 48,530,751(-) G/A SYNONYMOUS_VARIANT
703028 Benign: not provided 48,530,622(-) G/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for HOXB1 Gene

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)

Additional Variant Information for HOXB1 Gene

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

SNP Genotyping and Copy Number Assay Products

Disorders for HOXB1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for HOXB1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for HOXB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 JL … Rodier PM (Teratology 2000) 3 4 23 54
  2. HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. (PMID: 22770981) Webb BD … Jabs EW (American journal of human genetics 2012) 3 4 54
  3. Genome-wide association study reveals multiple loci associated with primary tooth development during infancy. (PMID: 20195514) Pillas D … Jarvelin MR (PLoS genetics 2010) 3 41 54
  4. Tethered-hopping model for protein-DNA binding and unbinding based on Sox2-Oct1-Hoxb1 ternary complex simulations. (PMID: 20371328) Lian P … Wei D (Biophysical journal 2010) 3 23 54
  5. Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families. (PMID: 11840501) Li J … Myers RM (American journal of medical genetics 2002) 3 41 54

Products for HOXB1 Gene

Sources for HOXB1 Gene