LMX1A

Protein identityUniProt · HPA

UniProt accession

Q8TE12

Gene

LMX1A

Ensembl

ENSG00000162761

Chromosome

1

Canonical length

382 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Golgi apparatus,Vesicles

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

382 residues, UniProt reviewed canonical sequence.

>Q8TE12|LMX1A
     1  MLDGLKMEEN FQSAIDTSAS FSSLLGRAVS PKSVCEGCQR VILDRFLLRL NDSFWHEQCV
    61  QCASCKEPLE TTCFYRDKKL YCKYDYEKLF AVKCGGCFEA IAPNEFVMRA QKSVYHLSCF
   121  CCCVCERQLQ KGDEFVLKEG QLLCKGDYEK ERELLSLVSP AASDSGKSDD EESLCKSAHG
   181  AGKGTAEEGK DHKRPKRPRT ILTTQQRRAF KASFEVSSKP CRKVRETLAA ETGLSVRVVQ
   241  VWFQNQRAKM KKLARRQQQQ QQDQQNTQRL SSAQTNGGGS AGMEGIMNPY TALPTPQQLL
   301  AIEQSVYSSD PFRQGLTPPQ MPGDHMHPYG AEPLFHDLDS DDTSLSNLGD CFLATSEAGP
   361  LQSRVGNPID HLYSMQNSYF TS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LMX1A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.52

Highest tissue expression

19 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LMX1A.

Disease | AllUniProt

Conditions LMX1A is implicated in, by any mechanism.

• Deafness, autosomal dominant, 7 (DFNA7) MIM:601412

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 101 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal dominant nonsyndromic hearing loss 7

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.27

gnomAD pLI

0.99

gnomAD missense Z

1

DepMap mean gene effect

0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• axon guidance
• cerebellum development
• dentate gyrus development
• dopaminergic neuron differentiation
• locomotory behavior
• memory
• midbrain dopaminergic neuron differentiation
• negative regulation of neuron differentiation
• neuron differentiation
• olfactory behavior
• positive regulation of transcription by RNA polymerase II
• regulation of cell growth
• regulation of transcription by RNA polymerase II
• synapse organization

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• metal ion binding
• RNA polymerase II transcription regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• Zinc finger, LIM-type
• Homedomain-like superfamily
• Homeobox, conserved site
• LIM/homeobox transcription factors
• Homeodomain
• LIM domain
• Lmx1a, first LIM domain

KeywordsUniProt

• Activator
• Deafness
• Developmental protein
• DNA-binding
• Homeobox
• LIM domain
• Metal-binding
• Non-syndromic deafness
• Nucleus
• Repeat
• Transcription
• Transcription regulation
• Zinc

InteractionsUniProt · HPA

Protein binding partners of LMX1A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GRB2