HOXB1 - homeobox B1 Gene

Also Known as HOX2; HCFP3; HOX2I; Hox-2.9

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3211

About HOXB1

Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:48,528,526-48,531,011 (from NCBI)

This gene has 2 transcripts (splice variants), 187 orthologues, 42 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

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]

HOXB1 Products (1)

mRNA	Protein	Name
NM_002144.4	NP_002135.2	homeobox protein Hox-B1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Verweise	Source
enables DNA binding	IDA IDA: Inferred from direct assay	10052460	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	9556594	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	9556594	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	9556594	GOA
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	10052460	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	9556594	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HOXB1 Protein Structure

Homeobox

0
100
200
301 a.a.

Protein Preferred Names	Protein Names
homeobox protein Hox-B1	homeobox protein Hox-2I

Related Diseases

Diseases	Alias
Facial Paresis, Hereditary Congenital, 3	HCFP3
Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome	Congenital Hereditary Facial Palsy With Variable Deafness Congenital Hereditary Facial Palsy With Variable Hearing Loss Congenital Hereditary Facial Paralysis With Variable Deafness Congenital Hereditary Facial Paralysis-Variable Deafness Syndrome
Athabaskan Brainstem Dysgenesis Syndrome	Bosley-Salih-Alorainy Syndrome Navajo Brainstem Syndrome ABDS Human Hoxa1 Syndromes BSAS Athabaskan Brainstem Dysgenesis Bosley Salih Alorainy Syndrome Absd Athabascan Brainstem Dysgenesis Syndrome Narvajo Brainstem Syndrome
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Guttmacher Syndrome Preaxial Deficiency, Postaxial Polydactyly And Hypospadias Autosomal Dominant Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias Preaxial Deficiency-Postaxial Polydactyly-Hypospadias Syndrome GUTTS
Facial Nerve Disease	Facial Nerve Disorder Facial Nerve Diseases Neuropathy Of Facial Nerve Disorders Of 7th Cranial Nerve Disorders Of The Seventh Cranial Nerve
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Facial Paralysis	Facial Palsy Bell Palsy
Bell'S Palsy	Bell Palsy Facial Nerve Palsy Facial Palsy Facial Paralysis Bell'S Palsy Antoni'S Palsy Facial Cranial Nerve Paralysis Idiopathic Facial Palsy Refrigeration Palsy Facial Nerve Paralysis Seventh Cranial Nerve Paralysis Face Paralysis Nos
Hand-Foot-Genital Syndrome	Hand-Foot-Uterus Syndrome Hfgs Hfg Syndrome Hfu Syndrome HFG Hfu Hand Foot Uterus Syndrome Hand Foot Genital Syndrome
Congenital Fibrosis Of The Extraocular Muscles	Congenital Fibrosis Of Extraocular Muscles Cfeom Feom Congenital External Ophthalmoplegia Congenital Fibrosis Syndrome General Fibrosis Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS06304	HOXB1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21596	Hoxb1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28114	Hoxb1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	HOXB1	MGD	MGI:96182
Felis catus	HOXB1	VGNC	VGNC:67621
Macaca mulatta	HOXB1	VGNC	VGNC:73504
Rattus norvegicus	HOXB1	RGD	RGD:1310298
Canis familiaris	HOXB1	VGNC	VGNC:41749
Bos taurus	HOXB1	VGNC	VGNC:29916
Others	HOXB1	NCBI