Aliases for HOXB1 Gene
Aliases for HOXB1 Gene
External Ids for HOXB1 Gene
- HGNC: 5111
- Entrez Gene: 3211
- Ensembl: ENSG00000120094
- OMIM: 142968
- UniProtKB: P14653
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
-
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. 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HOXB1 Gene
Genomics for HOXB1 Gene
Regulatory Elements for HOXB1 Gene
- Transcription factor binding sites by QIAGEN in the HOXB1 gene promoter:
Regulatory Element Products
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
- Cytogenetic band:
-
- 17q21.32 by Ensembl
- 17q21.32 by Entrez Gene
- 17q21.32 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q4VB03
Protein attributes for HOXB1 Gene
- Size:
- 301 amino acids
- Molecular mass:
- 32193 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for HOXB1 Gene
Other Protein References for HOXB1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for HOXB1 (HOXB1)
- Novus Biologicals Antibodies for HOXB1
- Invitrogen Antibodies for HOXB1
- antibodies-online Antibodies for HOXB1: See all 65
- Search GeneTex for Antibodies for HOXB1
Protein Products
-
OriGene Purified Proteins for HOXB1
- Search Origene for MassSpec and Protein Over-expression Lysates for HOXB1
- Origene Custom Protein Services for HOXB1
- antibodies-online Proteins for HOXB1: See all 15
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HOXB1
Assay Products
No data available for DME Specific Peptides for HOXB1 Gene
Domains & Families for HOXB1 Gene
Gene Families for HOXB1 Gene
Protein Domains for HOXB1 Gene
Suggested Antigen Peptide Sequences for HOXB1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P14653- Family:
-
- Belongs to the Antp homeobox family. Labial subfamily.
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.
| 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 core promoter proximal region sequence-specific DNA binding | IDA | 9556594 |
| GO:0001077 | transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding | IDA | 9556594 |
| GO:0001228 | transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding | IDA | 9556594 |
| GO:0003677 | DNA binding | IDA | 10052460 |
Phenotypes for HOXB1 Gene
- MGI mutant phenotypes for HOXB1:
-
inferred from 14 alleles
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- normal phenotype
- growth/size/body region phenotype
- immune system phenotype
- muscle phenotype
- nervous system phenotype
- respiratory system phenotype
- endocrine/exocrine gland phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- skeleton phenotype
- embryo phenotype
- hematopoietic system phenotype
- craniofacial phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for HOXB1:
Animal Models for HOXB1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HOXB1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HOXB1 gene
- Search ViGene Biosciences for HOXB1
CRISPR Products
-
OriGene CRISPR knockouts for HOXB1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HOXB1
- GenScript: Design CRISPR guide RNA sequences for HOXB1
miRNA for HOXB1 Gene
- miRTarBase miRNAs that target HOXB1
miRNA Products
- Search ViGene Biosciences for HOXB1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HOXB1
- Browse OriGene Inhibitory RNA Products For HOXB1
-
ViGene Biosciences ready-to-package AAV shRNAs for HOXB1 gene
Clone Products
-
OriGene ORF clones in human for HOXB1
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- Addgene plasmids for HOXB1
Cell Line Products
-
Horizon Cell Lines for HOXB1
-
ViGene Biosciences adenoviral particle packaged cDNA for HOXB1 gene
-
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-
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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
- Nucleus.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
Pathways & Interactions for HOXB1 Gene
Pathways by source for HOXB1 Gene
1 BioSystems pathway for HOXB1 Gene
1 KEGG pathway for HOXB1 Gene
1 Qiagen pathway for HOXB1 Gene
Interacting Proteins 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:0006366 | transcription from RNA polymerase II promoter | IEA | -- |
| GO:0007275 | multicellular organism development | NAS | 10052460 |
| GO:0007389 | pattern specification process | TAS | 10052460 |
No data available for SIGNOR curated interactions for HOXB1 Gene
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 :
CRISPR Products
-
OriGene CRISPR knockouts for HOXB1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HOXB1
- GenScript: Design CRISPR guide RNA sequences for HOXB1
miRNA Products
- Search ViGene Biosciences for HOXB1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HOXB1
- Browse OriGene Inhibitory RNA Products For HOXB1
-
ViGene Biosciences ready-to-package AAV shRNAs for HOXB1 gene
Clone Products
-
OriGene ORF clones in human for HOXB1
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- Addgene plasmids for HOXB1
Flow Cytometry Products
Expression for HOXB1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Epiblast (Early Embryo)
- Primitive Streak Cells Posterior Primitive Streak
- Epiblast Stem Cell line 7
- Skeletal Muscle (Muscoskeletal System)
-
Kidney (Urinary System)
- Metanephric Mesenchyme Cells Metanephric Mesenchyme
-
Primitive Streak (Early Embryonic Tissues)
- Primitive Streak Cells Posterior Primitive Streak
- Head Mesenchyme (Muscoskeletal System)
- Gut Tube (Gastrointestinal Tract)
- Neural Tube (Nervous System)
mRNA differential expression in normal tissues according to GTEx for HOXB1 Gene
NURSA nuclear receptor signaling pathways regulating expression of HOXB1 Gene:
HOXB1SOURCE GeneReport for Unigene cluster for HOXB1 Gene:
Hs.99992Evidence 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
- ectoderm
- nervous
- skeletal muscle
- brain
- cranial nerve
- ear
- face
- head
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs for HOXB1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HOXB1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HOXB1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HOXB1 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hoxb1 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Hoxb1 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HOXB1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | HOXB1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HOXB1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HOXB1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hoxb1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hoxb1a 34 35 |
|
||
| hoxb1b 35 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | zen2 35 |
|
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)
Paralogs for HOXB1 Gene
Paralogs for HOXB1 Gene
(58) SIMAP similar genes for HOXB1 Gene using alignment to 4 proteins:
- HMX2
- HOX B6
- HOXC13
- HOXD13
- HOXD12
- HOXA13
- PITX2
- HOXD11
- HOXA10
- GBX1
- EVX1
- MNX1
- HOXC9
- HOXB13
- HOXA5
- CDX1
- DBX2
- NKX6-1
- MEOX2
- DLX6
- SHOX2
- LBX1
- HOXD9
- NKX2-5
- GSX2
- homeobox gene
- Pix-1
- MSX1
- HOXB7
- HMX1
- BARX2
- PITX1
- NKX6-3
- NOTO
- NKX2-6
- NKX1-2
- HOXA11
- PHOX2B
- HOXA1
- NANOG
- DLX3
- NANOGP8
- HOXB8
- DLX1
- BARX1
- BARHL1
- PAX6
- NKX1-1
- HOXB3
- HOXA4
- HLX
- NOBOX
- ARGFX
- HOXC6
- TPRX2P
- PROP1
- OTX1
- DPRX
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.
| SNP ID | Clin | Chr 17 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs387907239 | Pathogenic, Facial paresis, hereditary congenital, 3 (HCFP3) [MIM:614744] | 48,529,834(-) | GCCTC(C/T)GCACC | reference, missense | |
| rs886043501 | Uncertain significance | 48,530,735(+) | GCTGA(A/T)ACGCA | reference, missense | |
| rs1001247442 | -- | 48,532,643(+) | ACCCC(A/T)AAAAG | upstream-variant-2KB | |
| rs1003537303 | -- | 48,531,269(+) | GGAAA(A/C)AGTTA | upstream-variant-2KB | |
| rs1003711660 | -- | 48,531,605(+) | GCAGG(A/G)TCTAG | upstream-variant-2KB |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2758694 | CNV | gain | 17122850 |
| nsv833469 | CNV | loss | 17160897 |
Relevant External Links for HOXB1 Gene
Disorders for HOXB1 Gene
(9) MalaCards diseases for HOXB1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| facial paresis, hereditary congenital, 3 |
|
|
| congenital hereditary facial paralysis-variable hearing loss syndrome |
|
|
| facial paralysis |
|
|
| facial nerve disease |
|
|
| hereditary congenital facial paresis |
|
|
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
No data available for Genatlas for HOXB1 Gene
Publications for HOXB1 Gene
- 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 64
- 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 64
- 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 64
- 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 64
- 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 64
Products for HOXB1 Gene
- R&D Systems Antibodies for HOXB1 (HOXB1)
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- Addgene plasmids for HOXB1
- antibodies-online Antibodies for HOXB1: See all 65
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- ViGene Biosciences adenoviral particle packaged cDNA for HOXB1 gene
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- Horizon Cell Lines for HOXB1
- Cyagen custom Knockout/knockin (KOKI) mouse models for HOXB1
- VectorBuilder custom plasmid, inducible vectors for HOXB1
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HOXB1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
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- (122) diseasecard
- (123) NIH Rare Diseases
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- (125) UMLS
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- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer




