Human Gene LHX3 (ENST00000371748.10) from GENCODE V44
  Description: Homo sapiens LIM homeobox 3 (LHX3), transcript variant 1, mRNA. (from RefSeq NM_178138)
RefSeq Summary (NM_178138): 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].
Gencode Transcript: ENST00000371748.10
Gencode Gene: ENSG00000107187.17
Transcript (Including UTRs)
   Position: hg38 chr9:136,196,250-136,205,128 Size: 8,879 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr9:136,197,325-136,205,012 Size: 7,688 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:136,196,250-136,205,128)mRNA (may differ from genome)Protein (397 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LHX3_HUMAN
DESCRIPTION: RecName: Full=LIM/homeobox protein Lhx3; Short=LIM homeobox protein 3;
FUNCTION: Acts as a transcriptional activator. Binds to and activates the promoter of the alpha-glycoprotein gene, and synergistically enhances transcription from the prolactin promoter in cooperation with Pit-1 (By similarity).
SUBCELLULAR LOCATION: Nucleus (Probable).
DOMAIN: The LIM domain specifically interacts with the Pit-1 POU domain and is required for synergistic interactions with Pit-1, but not for basal transcriptional activation events (By similarity).
DISEASE: Defects in LHX3 are the cause of pituitary hormone deficiency combined type 3 (CPHD3) [MIM:221750]; also known as combined pituitary hormone deficiency with rigid cervical spine or sensorineural deafness with pituitary dwarfism. CPHD is characterized by a complete deficit in all but one (adrenocorticotropin) anterior pituitary hormone and a rigid cervical spine leading to limited head rotation.
SIMILARITY: Contains 1 homeobox DNA-binding domain.
SIMILARITY: Contains 2 LIM zinc-binding domains.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LHX3";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: LHX3
Diseases sorted by gene-association score: pituitary hormone deficiency, combined, 3* (1580), lhx3-related combined pituitary hormone deficiency* (500), hypothyroidism due to deficient transcription factors involved in pituitary development or function* (175), combined pituitary hormone deficiency (23), septooptic dysplasia (17), hypopituitarism (17), neonatal thyrotoxicosis (11), pituitary hypoplasia (11), pituitary hormone deficiency, combined, 2 (11), pituitary gland disease (9), borjeson-forssman-lehmann syndrome (8), isolated growth hormone deficiency (7), deafness, autosomal dominant 15 (6), acth deficiency (5), kallmann syndrome (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 53.26 RPKM in Pituitary
Total median expression: 53.57 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -62.00116-0.534 Picture PostScript Text
3' UTR -433.001075-0.403 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017970 - Homeobox_CS
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like
IPR001781 - Znf_LIM

Pfam Domains:
PF00046 - Homeobox domain
PF00412 - LIM domain

ModBase Predicted Comparative 3D Structure on Q9UBR4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001076 transcription factor activity, RNA polymerase II transcription factor binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001085 RNA polymerase II transcription factor binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0001890 placenta development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0008045 motor neuron axon guidance
GO:0009887 animal organ morphogenesis
GO:0009953 dorsal/ventral pattern formation
GO:0021520 spinal cord motor neuron cell fate specification
GO:0021521 ventral spinal cord interneuron specification
GO:0021526 medial motor column neuron differentiation
GO:0021527 spinal cord association neuron differentiation
GO:0021983 pituitary gland development
GO:0030154 cell differentiation
GO:0030324 lung development
GO:0043066 negative regulation of apoptotic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048839 inner ear development

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005667 transcription factor complex


-  Descriptions from all associated GenBank mRNAs
  AB593064 - Homo sapiens LHX3 mRNA for LIM/homeobox protein Lhx3, complete cds, clone: HP05297-RBd31E04.
AB593065 - Homo sapiens LHX3 mRNA for LIM/homeobox protein Lhx3, complete cds, clone: HP05297-RBd40E03.
AB593066 - Homo sapiens LHX3 mRNA for LIM/homeobox protein Lhx3, complete cds, clone: HP05297-RBd68D07.
AB593067 - Homo sapiens LHX3 mRNA for LIM/homeobox protein Lhx3, complete cds, clone: HP05297-RBd88E01.
AB593063 - Homo sapiens LHX3 mRNA for LIM/homeobox protein Lhx3, complete cds, clone: HP05297-RBd23B02.
AB593062 - Homo sapiens LHX3 mRNA for LIM/homeobox protein Lhx3, complete cds, clone: HP05297-RBb10F05.
AF156889 - Homo sapiens LIM homeobox protein 3 isoform b (LHX3) mRNA, complete cds.
AF156888 - Homo sapiens LIM homeobox protein 3 isoform a (LHX3) mRNA, complete cds.
JD325005 - Sequence 306029 from Patent EP1572962.
JD399642 - Sequence 380666 from Patent EP1572962.
JD070927 - Sequence 51951 from Patent EP1572962.
JD260339 - Sequence 241363 from Patent EP1572962.
JD394439 - Sequence 375463 from Patent EP1572962.
JD515451 - Sequence 496475 from Patent EP1572962.
JD195782 - Sequence 176806 from Patent EP1572962.
JD418284 - Sequence 399308 from Patent EP1572962.
JD252921 - Sequence 233945 from Patent EP1572962.
JD311078 - Sequence 292102 from Patent EP1572962.
JD259534 - Sequence 240558 from Patent EP1572962.
JD132876 - Sequence 113900 from Patent EP1572962.
JD075696 - Sequence 56720 from Patent EP1572962.
JD076541 - Sequence 57565 from Patent EP1572962.
JD431722 - Sequence 412746 from Patent EP1572962.
JD084876 - Sequence 65900 from Patent EP1572962.
JD304833 - Sequence 285857 from Patent EP1572962.
JD431913 - Sequence 412937 from Patent EP1572962.
JD439397 - Sequence 420421 from Patent EP1572962.
JD259659 - Sequence 240683 from Patent EP1572962.
JD451065 - Sequence 432089 from Patent EP1572962.
JD415439 - Sequence 396463 from Patent EP1572962.
AF096169 - Homo sapiens LHX3 protein mRNA, partial cds.
JD260882 - Sequence 241906 from Patent EP1572962.
JD057411 - Sequence 38435 from Patent EP1572962.
JD088393 - Sequence 69417 from Patent EP1572962.
BC152818 - Synthetic construct Homo sapiens clone IMAGE:100016058, MGC:184146 LIM homeobox 3 (LHX3) mRNA, encodes complete protein.
BC156735 - Synthetic construct Homo sapiens clone IMAGE:100062248, MGC:190219 LIM homeobox 3 (LHX3) mRNA, encodes complete protein.
AB590758 - Synthetic construct DNA, clone: pFN21AB9719, Homo sapiens LHX3 gene for LIM homeobox 3, without stop codon, in Flexi system.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UBR4 (Reactome details) participates in the following event(s):

R-HSA-9010541 ISL1 binds the SLIT2 gene enhancer
R-HSA-9010553 Regulation of expression of SLITs and ROBOs
R-HSA-376176 Signaling by ROBO receptors
R-HSA-422475 Axon guidance
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000371748.1, ENST00000371748.2, ENST00000371748.3, ENST00000371748.4, ENST00000371748.5, ENST00000371748.6, ENST00000371748.7, ENST00000371748.8, ENST00000371748.9, LHX3_HUMAN, NM_178138, Q5TB39, Q5TB40, Q9NZB5, Q9P0I8, Q9P0I9, Q9UBR4, uc004cha.1, uc004cha.2, uc004cha.3, uc004cha.4, uc004cha.5
UCSC ID: ENST00000371748.10
RefSeq Accession: NM_178138
Protein: Q9UBR4 (aka LHX3_HUMAN)
CCDS: CCDS6994.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.