BARHL1 - BarH like homeobox 1 Gene

Homo sapiens

Gene ID: 56751 | Gene type: protein coding

About BARHL1

Cytogenetic location: 9q34.13 Genomic coordinates (GRCh38): 9:132,582,606-132,590,252 (from NCBI)

This gene has 2 transcripts (splice variants), 209 orthologues and 3 paralogues. Low expression observed in reference dataset.

Summary

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including negative regulation of neuron apoptotic process; nervous system development; and sensory perception of sound. Predicted to be part of chromatin. Predicted to be active in nucleus. Biomarker of Alzheimer's disease; high grade glioma; and triple-receptor negative breast Cancer. [provided by Alliance of Genome Resources, Apr 2022]

BARHL1 Products(1)

mRNA	Protein	Name
NM_020064.4	NP_064448.1	barH-like 1 homeobox protein

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	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

BARHL1 Protein Structure

Homeobox

0
100
200
300
327 a.a.

Protein Preferred Names

Protein Names

barH-like 1 homeobox protein

Related Diseases

Diseases

Alias

Triple-Receptor Negative Breast Cancer

Deafness, Autosomal Recessive 7

DFNB7	Dfnb11
Deafness, Autosomal Recessive 11	Autosomal Recessive Nonsyndromic Deafness 7
Autosomal Recessive Deafness 7	Deafness, Autosomal Recessive, 7
Deafness Neurosensory Autosomal Recessive 11	Deafness Neurosensory Autosomal Recessive 7
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 7	Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 7
Deafness, Autosomal Recessive, Type 7

Deafness, Autosomal Recessive 27

DFNB27	Autosomal Recessive Nonsyndromic Deafness 27
Autosomal Recessive Deafness 27

High Grade Glioma

Malignant Glioma	Glial Cell Tumor
Glioma, Malignant	Malignant Neuroglial Tumor
Neuroglial Tumor	Glioma
Malignant Gliomas

Medulloblastoma

MDB	Cpnet
Localized Primitive Neuroectodermal Tumor	Classic Medulloblastoma
Medulloblastoma Predisposition Syndrome	Medulloblastoma, Somatic
Brain Medulloblastoma	Cns Pnet
Infratentorial Primitive Neuroectodermal Tumor	Neuroectodermal Tumors, Primitive
Medulloblastomas	Desmoplastic Medulloblastoma
Medulloblastoma, With Extensive Nodularity	Medulloblastoma Of Unspecified Site
Medullomyoblastoma Of Unspecified Site

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S 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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01366	BARHL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	BARHL1	RGD	RGD:620648
Macaca mulatta	BARHL1	VGNC	VGNC:104879
Mus musculus	BARHL1	MGD	MGI:1859288
Bos taurus	BARHL1	VGNC	VGNC:26421
Felis catus	BARHL1	VGNC	VGNC:69105
Canis familiaris	BARHL1	VGNC	VGNC:38380

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