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)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 2.2
    Marker Score: 1518
  • Cell Name: monocyte (CL0000576)
    Fold Change: 1.67
    Marker Score: 2170
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.38
    Marker Score: 876
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.1
    Marker Score: 7312
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.05
    Marker Score: 802
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2426
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5349
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.92
    Marker Score: 540
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2743
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5290
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.86
    Marker Score: 1634
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.84
    Marker Score: 1364
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 713
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.77
    Marker Score: 506
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.71
    Marker Score: 182
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.65
    Marker Score: 518
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.64
    Marker Score: 392
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.57
    Marker Score: 152
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.57
    Marker Score: 341
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.54
    Marker Score: 1090
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.5
    Marker Score: 480
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.44
    Marker Score: 185
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.44
    Marker Score: 251
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.4
    Marker Score: 2381
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 377
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.35
    Marker Score: 5434
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.34
    Marker Score: 437
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.32
    Marker Score: 556
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.3
    Marker Score: 94
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.29
    Marker Score: 166
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.28
    Marker Score: 150
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.27
    Marker Score: 344
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.27
    Marker Score: 128
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.22
    Marker Score: 150
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.22
    Marker Score: 120
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.22
    Marker Score: 461
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.21
    Marker Score: 91
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.2
    Marker Score: 202
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.18
    Marker Score: 141
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.15
    Marker Score: 146
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.14
    Marker Score: 198
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.11
    Marker Score: 46
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.1
    Marker Score: 25
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.09
    Marker Score: 23
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.09
    Marker Score: 112
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.08
    Marker Score: 19.5
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.08
    Marker Score: 28
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.07
    Marker Score: 25
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.07
    Marker Score: 20
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.07
    Marker Score: 136
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 0.06
    Marker Score: 22
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.06
    Marker Score: 20
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.06
    Marker Score: 22
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.06
    Marker Score: 85
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.06
    Marker Score: 24
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.06
    Marker Score: 55
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.05
    Marker Score: 55
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.05
    Marker Score: 91
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.05
    Marker Score: 147
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.05
    Marker Score: 16
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.05
    Marker Score: 59.5
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.05
    Marker Score: 79
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.05
    Marker Score: 26
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.05
    Marker Score: 52
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.05
    Marker Score: 28
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.05
    Marker Score: 21
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.05
    Marker Score: 41
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.05
    Marker Score: 22
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 0.04
    Marker Score: 26
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.04
    Marker Score: 20
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.04
    Marker Score: 21
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.04
    Marker Score: 27
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.04
    Marker Score: 18
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.03
    Marker Score: 24
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.03
    Marker Score: 36
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.03
    Marker Score: 21
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.03
    Marker Score: 38
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.03
    Marker Score: 22
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.03
    Marker Score: 24
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.03
    Marker Score: 71
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.03
    Marker Score: 16
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.03
    Marker Score: 32
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.03
    Marker Score: 24
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.03
    Marker Score: 38
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.03
    Marker Score: 18
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.03
    Marker Score: 208
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.03
    Marker Score: 49
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.03
    Marker Score: 17
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.02
    Marker Score: 44
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 0.02
    Marker Score: 22
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.02
    Marker Score: 16
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.02
    Marker Score: 25
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.02
    Marker Score: 53
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.02
    Marker Score: 24
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.02
    Marker Score: 57
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.02
    Marker Score: 32
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.02
    Marker Score: 15
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.02
    Marker Score: 26
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.02
    Marker Score: 23

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Other Information

**Key characteristics** * HOXB1 is a homeobox gene, which are a group of genes that are involved in the early development of the head and brain. * It is expressed in a pattern that is characteristic of facial and upper lip development. * It is involved in the specification of the facial phenotype, including the formation of the nasal pits, eyes, and mouth. * It is a key transcription factor in the regulation of hox gene expression. * It is expressed in a pattern that is consistent with the development of the facial and upper lip regions. **Pathways and functions** HOXB1 is involved in a number of pathways and functions, including: * Activation of anterior hox genes in hindbrain development during early embryogenesis. * Activation of hox genes during differentiation. * Anterior/posterior pattern specification. * Developmental biology. * Rombomere 4 development. * Rhombomere 5 development. **Clinical significance** HOXB1 mutations are associated with a number of human diseases, including: * Craniosynostosis, which is a condition in which the face is too wide. * Microcephaly, which is a condition in which the brain is smaller than it should be. * Facial malformations, such as those found in Down syndrome. * Eye problems, such as cataracts and glaucoma. HOXB1 is a promising target for the treatment of human diseases that are caused by mutations in this gene.

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 Genevisible 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 2 PDBsum 1 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 Reactome 1 RefSeq 1 SAM 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. For the full schema, download it here.