1. Gene
  2. BARHL1 - BarH like homeobox 1 Gene

BARHL1 - BarH like homeobox 1 Gene

中文名称:BarH 样同源框 1

种属: Homo sapiens

基因 ID: 56751 | 基因类型: protein coding

关于 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.

功能概要

启用序列特异性双链 DNA 结合活性。预计参与 RNA 聚合酶 II 的转录调控。预计在几个过程的上游或内部起作用,包括神经元凋亡过程的负调节;神经系统发育;和声音的感官知觉。预测是染色质的一部分。预计活跃于核心。阿尔茨海默病的生物标志物;高级别神经胶质瘤;和三受体阴性乳腺癌。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(1)

mRNA Protein Name
NM_020064.4 NP_064448.1 barH-like 1 homeobox protein
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

BARHL1 蛋白结构

Homeobox

Homeobox: Homeobox domain (179 - 235)

  • 0
  • 100
  • 200
  • 300
  • 327 a.a.
蛋白主名 其他名称

barH-like 1 homeobox protein

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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