2. Gene
  3. DMBX1 - diencephalon/mesencephalon homeobox 1 Gene

DMBX1 - diencephalon/mesencephalon homeobox 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：间脑/中脑同源框 1

种属: Homo sapiens

同用名: Atx; MBX; OTX3; PAXB

基因 ID: 127343 | 基因类型: protein coding

关于 DMBX1

Cytogenetic location: 1p33 Genomic coordinates (GRCh38): 1:46,489,836-46,516,216 (from NCBI)

This gene has 2 transcripts (splice variants), 270 orthologues and 50 paralogues. Low expression observed in reference dataset.

功能概要

该基因编码含有同源结构域的转录因子的 bicoid 亚家族成员。编码的蛋白质充当转录因子，可能在大脑和感觉器官发育中发挥作用。已经为该基因鉴定了编码不同亚型的两个转录物变体。[RefSeq 提供，2008 年 7 月]

This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

DMBX1 基因产物(4)

mRNA Protein Name
NM_001387775.1 NP_001374704.1 diencephalon/mesencephalon homeobox protein 1 isoform a
NM_001387776.1 NP_001374705.1 diencephalon/mesencephalon homeobox protein 1 isoform b
NM_147192.4 NP_671725.1 diencephalon/mesencephalon homeobox protein 1 isoform b
NM_172225.2 NP_757379.1 diencephalon/mesencephalon homeobox protein 1 isoform a
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

DMBX1 蛋白结构

Homeobox

Homeobox: Homeobox domain (72 - 128)

OAR

OAR: OAR domain (356 - 374)

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

diencephalon/mesencephalon homeobox protein 1

homeoprotein MBX

关联疾病

疾病名称 别名
Farsightedness

Hypermetropia

Hyperopia

Far-Sightedness

Farsighted

Long-Sighted

Long-Sightedness
Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1
Hypotonia
Pulmonary Aspergilloma
Ritscher-Schinzel Syndrome 1

3c Syndrome

Craniocerebellocardiac Dysplasia

RTSC1

Dandy-Walker-Like Malformation With Atrioventricular Septal Defect

Dandy-Walker Like Malformation With Atrioventricular Septal Defect

Cranio-Cerebello-Cardiac Dysplasia

Dandy-Walker-Like Malformation With Asd

Ritscher Schinzel Syndrome

Ritscher-Schinzel Cranio-Cerebello-Cardiac Syndrome

Ritscher-Schinzel Syndrome

3c
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03821 DMBX1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta DMBX1 VGNC VGNC:71861
Bos taurus DMBX1 VGNC VGNC:28104
Mus musculus DMBX1 MGD MGI:2153518
Felis catus DMBX1 VGNC VGNC:61525
Canis familiaris DMBX1 VGNC VGNC:39997
Rattus norvegicus DMBX1 RGD RGD:1308265
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