BARHL1 - BarH like homeobox 1 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 56751

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 References 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

Homeobox: Homeobox domain (179 - 235)

  • 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

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 Set / 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
Others BARHL1 NCBI