2. Gene
  3. LMX1A - LIM homeobox transcription factor 1 alpha Gene

LMX1A - LIM homeobox transcription factor 1 alpha Gene

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

中文名称：LIM 同源框转录因子 1 α

种属: Homo sapiens

同用名: LMX1; DFNA7; LMX1.1

基因 ID: 4009 | 基因类型: protein coding

关于 LMX1A

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:165,201,867-165,356,715 (from NCBI)

This gene has 4 transcripts (splice variants), 209 orthologues, 20 paralogues and is associated with 1 phenotype. Low expression observed in reference dataset.

功能概要

该基因编码含有同源结构域和 LIM 结构域的蛋白质。编码的蛋白质是一种转录因子，可作为胰岛素基因转录的正调节因子。该基因还在胚胎发生过程中产生多巴胺的神经元的发育中发挥作用。该基因的突变与患帕金森病的风险增加有关。交替剪接导致多个转录本变体。[RefSeq 提供，2012 年 2 月]

This gene encodes a homeodomain and LIM-domain containing protein. The encoded protein is a transcription factor that acts as a positive regulator of Insulin gene transcription. This gene also plays a role in the development of dopamine producing neurons during embryogenesis. Mutations in this gene are associated with an increased risk of developing Parkinson's disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

LMX1A 基因产物(2)

mRNA Protein Name
NM_001174069.2 NP_001167540.1 LIM homeobox transcription factor 1-alpha
NM_177398.4 NP_796372.1 LIM homeobox transcription factor 1-alpha
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 protein binding IPI
IPI: 通过物理相互作用推断
25814554 GOA
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

LMX1A 蛋白结构

LIM

LIM: LIM domain (35 - 90)

LIM

LIM: LIM domain (94 - 151)

Homeobox

Homeobox: Homeobox domain (196 - 252)

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

LIM homeobox transcription factor 1-alpha

LIM/homeobox protein 1.1

LMX1A 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
LMX1A Q8TE12 GRB2 Homo sapiens P62993
Validated Y2H
25814554
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Deafness, Autosomal Dominant 7

DFNA7

Autosomal Dominant Nonsyndromic Deafness 7

Autosomal Dominant Deafness 7

Deafness, Autosomal Dominant, 7

Deafness, Autosomal Dominant, Type 7
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay

CAKUTHED

Doid:0112359

Anomalies, Congenital, Kidney And Urinary Tract Syndrome With/Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ovarian Mucinous Cystadenocarcinoma

Mucinous Cystadenocarcinoma Of Ovary
Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease
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-RS07727 LMX1A Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus LMX1A RGD RGD:1304784
Canis familiaris LMX1A VGNC VGNC:42728
Macaca mulatta LMX1A VGNC VGNC:74436
Bos taurus LMX1A VGNC VGNC:30943
Mus musculus LMX1A MGD MGI:1888519
Felis catus LMX1A VGNC VGNC:68076
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