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Aliases for LHX1 Gene

Aliases for LHX1 Gene

  • LIM Homeobox 1 2 3 5
  • Homeobox Protein Lim-1 3 4
  • LIM Homeobox Protein 1 3 4
  • LIM-1 3 4
  • LIM1 3 4
  • HLim-1 4

External Ids for LHX1 Gene

Previous GeneCards Identifiers for LHX1 Gene

  • GC17P034678
  • GC17P037247
  • GC17P035025
  • GC17P035490
  • GC17P032368
  • GC17P035294
  • GC17P031230

Summaries for LHX1 Gene

Entrez Gene Summary for LHX1 Gene

  • This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor important for the development of the renal and urogenital systems. This gene is a candidate for Mayer-Rokitansky-Kuster-Hauser syndrome, a disorder characterized by anomalies in the female genital tract. [provided by RefSeq, Dec 2010]

GeneCards Summary for LHX1 Gene

LHX1 (LIM Homeobox 1) is a Protein Coding gene. Diseases associated with LHX1 include chromosome 17q12 deletion syndrome and mayer-rokitansky-kuster-hauser syndrome. Among its related pathways are Neural Crest Differentiation. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription corepressor activity. An important paralog of this gene is LHX4.

UniProtKB/Swiss-Prot for LHX1 Gene

  • Potential transcription factor. May play a role in early mesoderm formation and later in lateral mesoderm differentiation and neurogenesis.

Gene Wiki entry for LHX1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LHX1 Gene

Genomics for LHX1 Gene

Regulatory Elements for LHX1 Gene

Genomic Location for LHX1 Gene

Chromosome:
17
Start:
36,936,785 bp from pter
End:
36,944,615 bp from pter
Size:
7,831 bases
Orientation:
Plus strand

Genomic View for LHX1 Gene

Genes around LHX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LHX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LHX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LHX1 Gene

Proteins for LHX1 Gene

  • Protein details for LHX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48742-LHX1_HUMAN
    Recommended name:
    LIM/homeobox protein Lhx1
    Protein Accession:
    P48742
    Secondary Accessions:
    • Q3MIW0

    Protein attributes for LHX1 Gene

    Size:
    406 amino acids
    Molecular mass:
    44808 Da
    Quaternary structure:
    • Interacts with LDB1 via the tandem LIM domains.

neXtProt entry for LHX1 Gene

Proteomics data for LHX1 Gene at MOPED

Post-translational modifications for LHX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LHX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for LHX1 Gene

Domains & Families for LHX1 Gene

Gene Families for LHX1 Gene

Suggested Antigen Peptide Sequences for LHX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P48742

UniProtKB/Swiss-Prot:

LHX1_HUMAN :
  • The LIM domains exert a negative regulatory function and disruption of the LIM domains produces an activated form. In addition, two activation domains and a negative regulatory domain exist C-terminally to the homeobox (By similarity).
Domain:
  • The LIM domains exert a negative regulatory function and disruption of the LIM domains produces an activated form. In addition, two activation domains and a negative regulatory domain exist C-terminally to the homeobox (By similarity).
  • Contains 1 homeobox DNA-binding domain.
  • Contains 2 LIM zinc-binding domains.
genes like me logo Genes that share domains with LHX1: view

Function for LHX1 Gene

Molecular function for LHX1 Gene

GENATLAS Biochemistry:
LIM motif containing protein kinase,putative transcription factor,expressed in brain,thymus and tonsillar tissue,involved in transcriptional regulation of neural and lymphoid cell
UniProtKB/Swiss-Prot Function:
Potential transcription factor. May play a role in early mesoderm formation and later in lateral mesoderm differentiation and neurogenesis.
genes like me logo Genes that share phenotypes with LHX1: view

Human Phenotype Ontology for LHX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LHX1 Gene

MGI Knock Outs for LHX1:

Animal Model Products

miRNA for LHX1 Gene

Targeted motifs for LHX1 Gene
HOMER Transcription Factor Regulatory Elements motif LHX1
  • Consensus sequence: NNYTAATTAR Submotif: canonical Cell Type: EmbryoCarcinoma GEO ID: GSE70957

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function and Transcription Factor Targets for LHX1 Gene

Localization for LHX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LHX1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LHX1 Gene COMPARTMENTS Subcellular localization image for LHX1 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for LHX1 Gene

Pathways & Interactions for LHX1 Gene

SuperPathways for LHX1 Gene

genes like me logo Genes that share pathways with LHX1: view

Pathways by source for LHX1 Gene

1 BioSystems pathway for LHX1 Gene

Interacting Proteins for LHX1 Gene

Selected Interacting proteins: P48742-LHX1_HUMAN for LHX1 Gene via I2D

Gene Ontology (GO) - Biological Process for LHX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001655 urogenital system development ISS --
GO:0001656 metanephros development IEA --
GO:0001658 branching involved in ureteric bud morphogenesis IEA --
GO:0001702 gastrulation with mouth forming second IEA,ISS --
GO:0001705 ectoderm formation IEA,ISS --
genes like me logo Genes that share ontologies with LHX1: view

No data available for SIGNOR curated interactions for LHX1 Gene

Drugs & Compounds for LHX1 Gene

No Compound Related Data Available

Transcripts for LHX1 Gene

Unigene Clusters for LHX1 Gene

LIM homeobox 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LHX1 Gene

No ASD Table

Relevant External Links for LHX1 Gene

GeneLoc Exon Structure for
LHX1
ECgene alternative splicing isoforms for
LHX1

Expression for LHX1 Gene

mRNA expression in normal human tissues for LHX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LHX1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x21.0), Brain - Cerebellum (x20.7), and Kidney - Cortex (x6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LHX1 Gene



SOURCE GeneReport for Unigene cluster for LHX1 Gene Hs.443727

mRNA Expression by UniProt/SwissProt for LHX1 Gene

P48742-LHX1_HUMAN
Tissue specificity: Expressed in the brain, thymus, and tonsils. Expressed in samples from patients with chronic myeloid leukemia (CML) and in 58% of acute myeloid leukemia (AML) cell lines.
genes like me logo Genes that share expression patterns with LHX1: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for LHX1 Gene

Orthologs for LHX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LHX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LHX1 35
  • 99.67 (n)
  • 99.75 (a)
cow
(Bos Taurus)
Mammalia LHX1 35
  • 94.01 (n)
  • 99.51 (a)
dog
(Canis familiaris)
Mammalia LHX1 35
  • 93.02 (n)
  • 99.75 (a)
mouse
(Mus musculus)
Mammalia Lhx1 16
Lhx1 35
  • 88.67 (n)
  • 99.51 (a)
rat
(Rattus norvegicus)
Mammalia Lhx1 35
  • 89 (n)
  • 99.51 (a)
chicken
(Gallus gallus)
Aves LHX1 35
  • 85.88 (n)
  • 94.33 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1226 35
tropical clawed frog
(Silurana tropicalis)
Amphibia lhx1 35
  • 79.34 (n)
  • 92.84 (a)
Str.12750 35
zebrafish
(Danio rerio)
Actinopterygii lhx1a 35
  • 76.73 (n)
  • 88.37 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011134 35
  • 62.62 (n)
  • 59.74 (a)
fruit fly
(Drosophila melanogaster)
Insecta Lim1 35
  • 60.24 (n)
  • 58.84 (a)
Lim1 37
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea lin-11 37
  • 52 (a)
mec-3 37
  • 38 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9454 35
Species with no ortholog for LHX1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LHX1 Gene

ENSEMBL:
Gene Tree for LHX1 (if available)
TreeFam:
Gene Tree for LHX1 (if available)

Paralogs for LHX1 Gene

Paralogs for LHX1 Gene

(18) SIMAP similar genes for LHX1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with LHX1: view

Variants for LHX1 Gene

Sequence variations from dbSNP and Humsavar for LHX1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs8078990 -- 36,942,013(+) ACCAT(A/T)GGCTC intron-variant
rs8075069 -- 36,939,901(+) CTAAT(A/C)GGAAA intron-variant
rs8071723 -- 36,945,031(+) TTTCA(A/T)TTCAT downstream-variant-500B
rs8075125 -- 36,942,391(+) GGGGC(A/G)CGGCC intron-variant
rs28417559 -- 36,940,410(+) AAGCA(A/G)CTCTC reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for LHX1 Gene

Variant ID Type Subtype PubMed ID
nsv833430 CNV Gain+Loss 17160897

Variation tolerance for LHX1 Gene

Residual Variation Intolerance Score: 45.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.02; 50.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LHX1 Gene

HapMap Linkage Disequilibrium report
LHX1
Human Gene Mutation Database (HGMD)
LHX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LHX1 Gene

Disorders for LHX1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for LHX1 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
chromosome 17q12 deletion syndrome
  • 17q12 microdeletion syndrome
mayer-rokitansky-kuster-hauser syndrome
  • cauv
ureterocele
- elite association - COSMIC cancer census association via MalaCards
Search LHX1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for LHX1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LHX1
genes like me logo Genes that share disorders with LHX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LHX1 Gene

Publications for LHX1 Gene

  1. Cloning, expression, and chromosomal localization to 11p12-13 of a human LIM/homeobox gene, hLim-1. (PMID: 9212161) Dong W.F. … Minden M.D. (DNA Cell Biol. 1997) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. TBX6, LHX1 and copy number variations in the complex genetics of MA1llerian aplasia. (PMID: 23954021) Sandbacka M. … AittomAoki K. (Orphanet J Rare Dis 2013) 3
  4. Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. (PMID: 22740494) Ledig S. … Wieacker P. (Hum. Reprod. 2012) 3
  5. Functional genomics identifies drivers of medulloblastoma dissemination. (PMID: 22875024) Mumert M. … Fults D.W. (Cancer Res. 2012) 3

Products for LHX1 Gene

Sources for LHX1 Gene

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