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Aliases for GSX1 Gene

Aliases for GSX1 Gene

  • GS Homeobox 1 2 3 5
  • GSH1 3 4
  • Genomic Screened Homeo Box 1 3
  • GS Homeo Box Protein 1 3
  • Homeobox Protein Gsh-1 3
  • Homeobox Protein GSH-1 4
  • Gsh-1 3

External Ids for GSX1 Gene

Previous HGNC Symbols for GSX1 Gene

  • GSH1

Previous GeneCards Identifiers for GSX1 Gene

  • GC13P027265
  • GC13P028366
  • GC13P009187

Summaries for GSX1 Gene

GeneCards Summary for GSX1 Gene

GSX1 (GS Homeobox 1) is a Protein Coding gene. Diseases associated with GSX1 include moebius syndrome. GO annotations related to this gene include sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is HOXD3.

UniProtKB/Swiss-Prot for GSX1 Gene

  • Probable transcription factor that binds to the DNA sequence 5-GC[TA][AC]ATTA[GA]-3. Activates the transcription of the GHRH gene. Plays an important role in pituitary development.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GSX1 Gene

Genomics for GSX1 Gene

Regulatory Elements for GSX1 Gene

Enhancers for GSX1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GSX1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GSX1 Gene

Chromosome:
13
Start:
27,792,643 bp from pter
End:
27,794,768 bp from pter
Size:
2,126 bases
Orientation:
Plus strand

Genomic View for GSX1 Gene

Genes around GSX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GSX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GSX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GSX1 Gene

Proteins for GSX1 Gene

  • Protein details for GSX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H4S2-GSX1_HUMAN
    Recommended name:
    GS homeobox 1
    Protein Accession:
    Q9H4S2
    Secondary Accessions:
    • Q9UD62

    Protein attributes for GSX1 Gene

    Size:
    264 amino acids
    Molecular mass:
    27883 Da
    Quaternary structure:
    No Data Available

neXtProt entry for GSX1 Gene

Proteomics data for GSX1 Gene at MOPED

Post-translational modifications for GSX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GSX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GSX1 Gene

Domains & Families for GSX1 Gene

Gene Families for GSX1 Gene

Suggested Antigen Peptide Sequences for GSX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H4S2

UniProtKB/Swiss-Prot:

GSX1_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the Antp homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the Antp homeobox family.
genes like me logo Genes that share domains with GSX1: view

Function for GSX1 Gene

Molecular function for GSX1 Gene

UniProtKB/Swiss-Prot Function:
Probable transcription factor that binds to the DNA sequence 5-GC[TA][AC]ATTA[GA]-3. Activates the transcription of the GHRH gene. Plays an important role in pituitary development.
genes like me logo Genes that share phenotypes with GSX1: view

Animal Models for GSX1 Gene

MGI Knock Outs for GSX1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for GSX1 Gene

Localization for GSX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GSX1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GSX1 Gene COMPARTMENTS Subcellular localization image for GSX1 gene
Compartment Confidence
nucleus 5
chloroplast 1
cytosol 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for GSX1 Gene

Pathways & Interactions for GSX1 Gene

SuperPathways for GSX1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GSX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0021527 spinal cord association neuron differentiation IEA --
genes like me logo Genes that share ontologies with GSX1: view

No data available for Pathways by source and SIGNOR curated interactions for GSX1 Gene

Drugs & Compounds for GSX1 Gene

(1) Drugs for GSX1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with GSX1: view

Transcripts for GSX1 Gene

mRNA/cDNA for GSX1 Gene

(1) REFSEQ mRNAs :
(2) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for GSX1 Gene

No ASD Table

Relevant External Links for GSX1 Gene

GeneLoc Exon Structure for
GSX1
ECgene alternative splicing isoforms for
GSX1

Expression for GSX1 Gene

mRNA expression in normal human tissues for GSX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GSX1 Gene

This gene is overexpressed in Brain - Hypothalamus (x23.6), Brain - Nucleus accumbens (basal ganglia) (x5.3), and Brain - Hippocampus (x4.5).

Protein differential expression in normal tissues from HIPED for GSX1 Gene

This gene is overexpressed in Brain (44.4) and Cerebrospinal fluid (22.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GSX1 Gene



SOURCE GeneReport for Unigene cluster for GSX1 Gene Hs.351785

genes like me logo Genes that share expression patterns with GSX1: view

Protein tissue co-expression partners for GSX1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for GSX1 Gene

Orthologs for GSX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GSX1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GSX1 35
  • 92.38 (n)
  • 99.29 (a)
dog
(Canis familiaris)
Mammalia GSX1 35
  • 92.4 (n)
  • 98.1 (a)
GSX1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gsx1 35
  • 87.87 (n)
  • 97.7 (a)
Gsx1 16
Gsx1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GSX1 35
  • 99.87 (n)
  • 100 (a)
GSX1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gsx1 35
  • 88.89 (n)
  • 97.32 (a)
oppossum
(Monodelphis domestica)
Mammalia GSX1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GSX1 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gsx1 35
  • 70.8 (n)
  • 78.1 (a)
zebrafish
(Danio rerio)
Actinopterygii gsx1 35
  • 67.49 (n)
  • 73.14 (a)
gsx1 36
  • 74 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ind 36
  • 28 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14218 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 21 (a)
OneToMany
Species with no ortholog for GSX1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for GSX1 Gene

ENSEMBL:
Gene Tree for GSX1 (if available)
TreeFam:
Gene Tree for GSX1 (if available)

Paralogs for GSX1 Gene

(1) SIMAP similar genes for GSX1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GSX1: view

Variants for GSX1 Gene

Sequence variations from dbSNP and Humsavar for GSX1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1231056 -- 27,790,883(+) CCCAC(C/T)CCATG upstream-variant-2KB
rs1231057 -- 27,791,518(+) CTAAG(A/G)GATGG upstream-variant-2KB
rs1231058 -- 27,792,924(+) CCTCT(A/G)CTCAA reference, synonymous-codon
rs3742111 -- 27,793,819(-) CTCCC(A/G)CCACC reference, synonymous-codon
rs3742112 -- 27,793,138(-) ATCAC(C/G)TCTGC intron-variant

Variation tolerance for GSX1 Gene

Residual Variation Intolerance Score: 60.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.61; 31.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GSX1 Gene

HapMap Linkage Disequilibrium report
GSX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GSX1 Gene

Disorders for GSX1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GSX1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
moebius syndrome
  • mobius syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GSX1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GSX1

Genetic Association Database (GAD)
GSX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GSX1
genes like me logo Genes that share disorders with GSX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GSX1 Gene

Publications for GSX1 Gene

  1. Homeobox protein Gsh-1-dependent regulation of the rat GHRH gene promoter. (PMID: 11731616) Mutsuga N. … Saito H. (Mol. Endocrinol. 2001) 3 4 23 67
  2. Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome. (PMID: 19460469) Uzumcu A. … Basaran S. (Eur J Med Genet 2009) 3 23
  3. Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. (PMID: 25086665) Wolpin B.M. … Amundadottir L.T. (Nat. Genet. 2014) 3
  4. Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. (PMID: 23648065) Low S.K. … Nakamura Y. (Cancer Sci. 2013) 3
  5. The Arabidopsis Ethylene-Insensitive 2 gene is required for lead resistance. (PMID: 19153049) Cao S. … Ma X. (Plant Physiol. Biochem. 2009) 23

Products for GSX1 Gene

Sources for GSX1 Gene

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