Details for: HOXB1

Gene ID: 3211

Symbol: HOXB1

Ensembl ID: ENSG00000120094

Description: homeobox B1

Associated with

  • Activation of anterior hox genes in hindbrain development during early embryogenesis
    (R-HSA-5617472)
  • Activation of hox genes during differentiation
    (R-HSA-5619507)
  • Developmental biology
    (R-HSA-1266738)
  • Anatomical structure formation involved in morphogenesis
    (GO:0048646)
  • Anterior/posterior pattern specification
    (GO:0009952)
  • Chromatin
    (GO:0000785)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Dna binding
    (GO:0003677)
  • Embryonic skeletal system morphogenesis
    (GO:0048704)
  • Facial nerve structural organization
    (GO:0021612)
  • Facial nucleus development
    (GO:0021754)
  • Nucleoplasm
    (GO:0005654)
  • Nucleus
    (GO:0005634)
  • Pattern specification process
    (GO:0007389)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Protein domain specific binding
    (GO:0019904)
  • Regulation of dna-templated transcription
    (GO:0006355)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rhombomere 4 development
    (GO:0021570)
  • Rhombomere 5 development
    (GO:0021571)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Rna polymerase ii transcription regulatory region sequence-specific dna binding
    (GO:0000977)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 1.2409
    Cell Significance Index: 18.3200
  • Cell Name: regulatory T cell (CL0000815)
    Fold Change: 0.7207
    Cell Significance Index: 8.3600
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.6355
    Cell Significance Index: 9.0300
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 0.5091
    Cell Significance Index: 5.2800
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.2392
    Cell Significance Index: 2.7400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2079
    Cell Significance Index: 10.8000
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.1341
    Cell Significance Index: 0.8900
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.0702
    Cell Significance Index: 0.8400
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: 0.0198
    Cell Significance Index: 0.4000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0186
    Cell Significance Index: 0.2700
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.0181
    Cell Significance Index: 0.2100
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.0101
    Cell Significance Index: 0.1000
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.0012
    Cell Significance Index: 0.0100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0008
    Cell Significance Index: -0.0200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0022
    Cell Significance Index: -0.0600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0084
    Cell Significance Index: -6.1400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0105
    Cell Significance Index: -7.9300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0113
    Cell Significance Index: -6.3800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0136
    Cell Significance Index: -7.4300
  • Cell Name: ionocyte (CL0005006)
    Fold Change: -0.0241
    Cell Significance Index: -0.2500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0278
    Cell Significance Index: -0.5800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0290
    Cell Significance Index: -5.2300
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: -0.0334
    Cell Significance Index: -0.3200
  • Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
    Fold Change: -0.0375
    Cell Significance Index: -0.3000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0382
    Cell Significance Index: -1.0200
  • Cell Name: myelocyte (CL0002193)
    Fold Change: -0.0384
    Cell Significance Index: -0.4100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0389
    Cell Significance Index: -4.7800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0396
    Cell Significance Index: -7.8600
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: -0.0411
    Cell Significance Index: -0.2700
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.0438
    Cell Significance Index: -0.6300
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0525
    Cell Significance Index: -0.5700
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: -0.0530
    Cell Significance Index: -0.3800
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: -0.0552
    Cell Significance Index: -0.4300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0580
    Cell Significance Index: -7.9600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0585
    Cell Significance Index: -5.9800
  • Cell Name: myoblast (CL0000056)
    Fold Change: -0.0597
    Cell Significance Index: -0.5900
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.0670
    Cell Significance Index: -1.0200
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.0693
    Cell Significance Index: -0.6700
  • Cell Name: neuroplacodal cell (CL0000032)
    Fold Change: -0.0788
    Cell Significance Index: -0.9700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0803
    Cell Significance Index: -6.3600
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: -0.0835
    Cell Significance Index: -0.8800
  • Cell Name: neuroblast (sensu Nematoda and Protostomia) (CL0000338)
    Fold Change: -0.0957
    Cell Significance Index: -0.8700
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: -0.1038
    Cell Significance Index: -0.9800
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.1083
    Cell Significance Index: -0.9100
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: -0.1139
    Cell Significance Index: -1.0700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1148
    Cell Significance Index: -3.3800
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.1186
    Cell Significance Index: -0.7300
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: -0.1266
    Cell Significance Index: -1.0700
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.1300
    Cell Significance Index: -1.0600
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.1399
    Cell Significance Index: -0.8300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1416
    Cell Significance Index: -4.9200
  • Cell Name: basal-myoepithelial cell of mammary gland (CL0002324)
    Fold Change: -0.1459
    Cell Significance Index: -1.0800
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.1513
    Cell Significance Index: -0.9500
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.1549
    Cell Significance Index: -1.0100
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.1649
    Cell Significance Index: -2.8000
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.1659
    Cell Significance Index: -2.1700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1706
    Cell Significance Index: -8.0200
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: -0.1722
    Cell Significance Index: -1.0700
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.1754
    Cell Significance Index: -1.0600
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.1846
    Cell Significance Index: -2.7000
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: -0.1955
    Cell Significance Index: -2.3100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.2078
    Cell Significance Index: -9.4200
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: -0.2094
    Cell Significance Index: -2.6900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2097
    Cell Significance Index: -5.6200
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.2374
    Cell Significance Index: -2.2500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2465
    Cell Significance Index: -9.0500
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.2477
    Cell Significance Index: -3.6100
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: -0.2512
    Cell Significance Index: -1.5500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2516
    Cell Significance Index: -6.7300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2655
    Cell Significance Index: -6.9800
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: -0.2656
    Cell Significance Index: -3.3600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2818
    Cell Significance Index: -6.1700
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: -0.2916
    Cell Significance Index: -3.5200
  • Cell Name: T cell (CL0000084)
    Fold Change: -0.2973
    Cell Significance Index: -3.5100
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.3007
    Cell Significance Index: -4.2800
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: -0.3109
    Cell Significance Index: -3.9400
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.3324
    Cell Significance Index: -8.4700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3352
    Cell Significance Index: -5.6100
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: -0.3420
    Cell Significance Index: -4.1600
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.3463
    Cell Significance Index: -4.8600
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.3513
    Cell Significance Index: -5.6900
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: -0.3570
    Cell Significance Index: -4.1500
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: -0.3576
    Cell Significance Index: -5.7500
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.3597
    Cell Significance Index: -2.3400
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.3727
    Cell Significance Index: -5.6600
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: -0.3801
    Cell Significance Index: -4.2100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3809
    Cell Significance Index: -10.9200
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.3826
    Cell Significance Index: -7.4800
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: -0.3859
    Cell Significance Index: -5.3000
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.4096
    Cell Significance Index: -10.2300
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.4342
    Cell Significance Index: -4.7300
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.4354
    Cell Significance Index: -6.2400
  • Cell Name: pericyte (CL0000669)
    Fold Change: -0.4412
    Cell Significance Index: -5.2900
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.4473
    Cell Significance Index: -6.2700
  • Cell Name: erythroblast (CL0000765)
    Fold Change: -0.4474
    Cell Significance Index: -5.3400
  • Cell Name: basal cell (CL0000646)
    Fold Change: -0.4508
    Cell Significance Index: -5.3700
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: -0.4517
    Cell Significance Index: -4.3700
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: -0.4581
    Cell Significance Index: -5.3900
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: -0.4654
    Cell Significance Index: -4.3800
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.4657
    Cell Significance Index: -7.9600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Transcriptional Regulation:** HOXB1 acts as a transcriptional activator, binding to specific DNA sequences and regulating the expression of target genes involved in developmental processes. 2. **Cellular Expression:** HOXB1 is highly expressed in various cell types, including immune cells, epithelial cells, and stem cells, indicating its widespread role in development and tissue homeostasis. 3. **Developmental Biology:** HOXB1 is essential for the regulation of anterior-posterior polarity and the development of various anatomical structures, including the hindbrain, facial nerve, and rhombomeres. 4. **Morphogenesis:** HOXB1 is involved in the regulation of tissue morphogenesis, including the formation of the embryonic skeletal system and the organization of facial structures. **Pathways and Functions:** 1. **Activation of Anterior Hox Genes:** HOXB1 activates the expression of anterior hox genes, which are essential for the establishment of anterior-posterior polarity. 2. **Differentiation:** HOXB1 regulates the differentiation of various cell types, including immune cells and epithelial cells. 3. **Morphogenesis:** HOXB1 is involved in the regulation of tissue morphogenesis, including the formation of the embryonic skeletal system and the organization of facial structures. 4. **Pattern Specification:** HOXB1 is essential for the specification of anterior-posterior patterns in development. **Clinical Significance:** 1. **Cancer:** Dysregulation of HOXB1 has been implicated in various cancers, including leukemia, lymphoma, and breast cancer. 2. **Developmental Disorders:** Abnormal expression of HOXB1 has been linked to developmental disorders, including craniofacial abnormalities and congenital heart defects. 3. **Immune System:** HOXB1 plays a critical role in the regulation of immune responses, including the development and function of immune cells. 4. **Stem Cell Biology:** HOXB1 is essential for the maintenance and differentiation of stem cells, including intestinal stem cells and hematopoietic stem cells. In conclusion, HOXB1 is a critical transcription factor that plays a pivotal role in developmental biology, tissue morphogenesis, and pattern specification. Its dysregulation has been implicated in various diseases, including cancer and developmental disorders. Further research is needed to fully understand the mechanisms of HOXB1 and its role in human disease.

Genular Protein ID: 2614531548

Symbol: HXB1_HUMAN

Name: Homeobox protein Hox-B1

UniProtKB Accession Codes:

P14653 Q4VB03

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 ELM 1 EMBL 4 Ensembl 2 EvolutionaryTrace 1 GO 21 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 Reactome 1 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 2574852

Title: The human HOX gene family.

PubMed ID: 2574852

DOI: 10.1093/nar/17.24.10385

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2576652

Title: Organization of human class I homeobox genes.

PubMed ID: 2576652

DOI: 10.1139/g89-133

PubMed ID: 10052460

Title: Structure of a HoxB1-Pbx1 heterodimer bound to DNA: role of the hexapeptide and a fourth homeodomain helix in complex formation.

PubMed ID: 10052460

DOI: 10.1016/s0092-8674(00)80662-5

PubMed ID: 10671062

Title: A genetic polymorphism in the human HOXB1 homeobox gene implying a 9bp tandem repeat in the amino-terminal coding region.

PubMed ID: 10671062

PubMed ID: 11091361

Title: Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders.

PubMed ID: 11091361

DOI: 10.1002/1096-9926(200012)62:6<393::aid-tera6>3.0.co;2-v

PubMed ID: 22770981

Title: HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1(-/-) mice.

PubMed ID: 22770981

DOI: 10.1016/j.ajhg.2012.05.018

Sequence Information:

  • Length: 301
  • Mass: 32193
  • Checksum: 6752A8C28AC55D11
  • Sequence:
    • MDYNRMNSFL EYPLCNRGPS AYSAHSAPTS FPPSSAQAVD SYASEGRYGG GLSSPAFQQN 
SGYPAQQPPS TLGVPFPSSA PSGYAPAACS PSYGPSQYYP LGQSEGDGGY FHPSSYGAQL 
GGLSDGYGAG GAGPGPYPPQ HPPYGNEQTA SFAPAYADLL SEDKETPCPS EPNTPTARTF 
DWMKVKRNPP KTAKVSEPGL GSPSGLRTNF TTRQLTELEK EFHFNKYLSR ARRVEIAATL 
ELNETQVKIW FQNRRMKQKK REREEGRVPP APPGCPKEAA GDASDQSTCT SPEASPSSVT 
S

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.