HOXB1 (homeobox B1)

2016-08-01 Affiliation

Identity

HGNC

HOXB1

LOCATION

17q21.32

LOCUSID

3211

ALIAS

HCFP3,HOX2,HOX2I,Hox-2.9

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3211
MIM: 142968
HGNC: 5111
Ensembl: ENSG00000120094

Variants:

dbSNP: 3211
ClinVar: 3211
TCGA: ENSG00000120094
COSMIC: HOXB1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000120094	ENST00000239174	P14653
ENSG00000120094	ENST00000577092	P14653

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Signaling pathways regulating pluripotency of stem cells	KEGG	hsa04550
Signaling pathways regulating pluripotency of stem cells	KEGG	ko04550
Developmental Biology	REACTOME	R-HSA-1266738
Activation of HOX genes during differentiation	REACTOME	R-HSA-5619507
Activation of anterior HOX genes in hindbrain development during early embryogenesis	REACTOME	R-HSA-5617472

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
17713478	2007	UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development.	464
11069920	2001	Superactivation of Pax6-mediated transactivation from paired domain-binding sites by dna-independent recruitment of different homeodomain proteins.	24
19477923	2009	Induction of HoxB transcription by retinoic acid requires actin polymerization.	23
22770981	2012	HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.	18
21433221	2011	Anterior Hox genes interact with components of the neural crest specification network to induce neural crest fates.	9
11840501	2002	Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families.	5
20371328	2010	Tethered-hopping model for protein-DNA binding and unbinding based on Sox2-Oct1-Hoxb1 ternary complex simulations.	5
26565624	2015	HOXB1 Is a Tumor Suppressor Gene Regulated by miR-3175 in Glioma.	4
27144914	2016	Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.	4
17167333	2007	Lack of association of HOXA1 and HOXB1 variants with autism in the Indian population.	3

Citation

Dessen P

HOXB1 (homeobox B1)

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

Online version: http://atlasgeneticsoncology.org/gene/55862/hoxb1