LHX3

Protein identityUniProt · HPA

UniProt accession

Q9UBR4

Gene

LHX3

Ensembl

ENSG00000107187

Chromosome

9

Canonical length

397 aa

Protein class

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

OverviewNCBI Gene

This gene encodes a member of a large family of proteins which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Mutations in this gene cause combined pituitary hormone deficiency 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Canonical amino-acid sequenceUniProt

397 residues, UniProt reviewed canonical sequence.

>Q9UBR4|LHX3
     1  MLLETGLERD RARPGAAAVC TLGGTREIPL CAGCDQHILD RFILKALDRH WHSKCLKCSD
    61  CHTPLAERCF SRGESVYCKD DFFKRFGTKC AACQLGIPPT QVVRRAQDFV YHLHCFACVV
   121  CKRQLATGDE FYLMEDSRLV CKADYETAKQ REAEATAKRP RTTITAKQLE TLKSAYNTSP
   181  KPARHVREQL SSETGLDMRV VQVWFQNRRA KEKRLKKDAG RQRWGQYFRN MKRSRGGSKS
   241  DKDSVQEGQD SDAEVSFPDE PSLAEMGPAN GLYGSLGEPT QALGRPSGAL GNFSLEHGGL
   301  AGPEQYRELR PGSPYGVPPS PAAPQSLPGP QPLLSSLVYP DTSLGLVPSG APGGPPPMRV
   361  LAGNGPSSDL STGSSGGYPD FPASPASWLD EVDHAQF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LHX3 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)

0.55

Highest tissue expression

49 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LHX3.

Disease | AllUniProt

Conditions LHX3 is implicated in, by any mechanism.

• Pituitary hormone deficiency, combined, 3 (CPHD3) MIM:221750

Disease | GeneticClinVar

51 pathogenic / likely-pathogenic of 642 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Non-acquired combined pituitary hormone deficiency with spine abnormalities
• Combined pituitary hormone deficiencies, genetic form

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)

0.74

gnomAD pLI

0.01

gnomAD missense Z

0.33

DepMap mean gene effect

-0.09

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• animal organ morphogenesis
• apoptotic process
• inner ear development
• lung development
• medial motor column neuron differentiation
• motor neuron axon guidance
• negative regulation of apoptotic process
• neuron differentiation
• placenta development
• positive regulation of DNA-templated transcription
• positive regulation of transcription by RNA polymerase II
• prolactin secreting cell differentiation
• regulation of transcription by RNA polymerase II
• somatotropin secreting cell differentiation
• spinal cord association neuron differentiation
• spinal cord motor neuron cell fate specification
• thyroid-stimulating hormone-secreting cell differentiation
• ventral spinal cord interneuron specification

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• RNA polymerase II transcription regulatory region sequence-specific DNA binding
• RNA polymerase II-specific DNA-binding transcription factor binding
• sequence-specific DNA binding
• transcription coactivator binding
• zinc ion binding

Cellular components

• chromatin
• nucleus
• transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• Zinc finger, LIM-type
• Homedomain-like superfamily
• Homeobox, conserved site
• LIM/homeobox protein Lhx3/4-like, LIM domain 2
• LIM/homeobox transcription factors
• Homeodomain
• LIM domain
• LIM/homeobox protein Lhx3, LIM domain 1

KeywordsUniProt

• Activator
• DNA-binding
• Dwarfism
• Homeobox
• LIM domain
• Metal-binding
• Nucleus
• Phosphoprotein
• Repeat
• Transcription
• Transcription regulation
• Zinc

InteractionsUniProt · HPA

Protein binding partners of LHX3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• LDB1
• LDB2
• POU1F1
• ISL1
• NFIA