LMX1A - LIM homeobox transcription factor 1 alpha Gene

Also Known as LMX1; DFNA7; LMX1.1

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 4009

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
25814554 GOA
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

LMX1A Protein Structure

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.
Protein Preferred Names Protein Names

LIM homeobox transcription factor 1-alpha

  • LIM/homeobox protein 1.1

LMX1A Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
LMX1A Q8TE12 GRB2 Homo sapiens P62993
Validated Y2H
25814554
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
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
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 (2)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS07727 LMX1A Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-174589 Human LMX1A mRNA / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others LMX1A NCBI