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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. 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 GSX2.

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.

Additional gene information for GSX1 Gene

No data available for Entrez Gene Summary , CIViC 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13H027821 2 VISTA ENCODE 12.9 +29.7 29679 2.2 MTA2 SUZ12 HDAC2 GSX1 CDX2 RNU6-63P GC13P027834
GH13H027744 1.9 VISTA ENCODE 11.7 -47.4 -47424 1.6 POU5F1 EZH2 GSX1 GC13P027748 LOC105370129
GH13H027958 1.7 FANTOM5 ENCODE dbSUPER 10.8 +177.9 177894 23.4 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 URAD RPL21 PLUT PDX1 GSX1 RN7SL272P CDX2 LNX2 FLT3 GC13M027960
GH13H027952 1.4 FANTOM5 ENCODE dbSUPER 10.7 +162.8 162826 6 FOXA2 RB1 BMI1 ZNF2 RAD21 YY1 ZNF143 ZNF207 SMARCA5 REST CDX2 PLUT PDX1 GSX1 URAD LINC00543 GC13M027960
GH13H027728 1.2 ENCODE 11.1 -64.1 -64125 0.2 GSX1 LOC105370129 NPM1P4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GSX1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for GSX1 Gene

Genomic Locations for GSX1 Gene
chr13:27,792,643-27,794,768
(GRCh38/hg38)
Size:
2,126 bases
Orientation:
Plus strand
chr13:28,366,780-28,368,905
(GRCh37/hg19)

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

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

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 :
  • Belongs to the Antp homeobox family.
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.

Phenotypes From GWAS Catalog for GSX1 Gene

Gene Ontology (GO) - Molecular Function for GSX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IDA 11731616
genes like me logo Genes that share ontologies with GSX1: view
genes like me logo Genes that share phenotypes with GSX1: view

Animal Models for GSX1 Gene

MGI Knock Outs for GSX1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GSX1 gene
Compartment Confidence
nucleus 5
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for GSX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with GSX1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GSX1 Gene

Pathways & Interactions for GSX1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GSX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007275 multicellular organism development IEA --
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 :

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for GSX1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GSX1 Gene:

GSX1

SOURCE GeneReport for Unigene cluster for GSX1 Gene:

Hs.351785

Evidence on tissue expression from TISSUES for GSX1 Gene

  • Bone marrow(4)
genes like me logo Genes that share expression patterns with GSX1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia GSX1 33 34
  • 99.87 (n)
oppossum
(Monodelphis domestica)
Mammalia GSX1 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GSX1 33 34
  • 92.4 (n)
cow
(Bos Taurus)
Mammalia GSX1 33
  • 92.38 (n)
rat
(Rattus norvegicus)
Mammalia Gsx1 33
  • 88.89 (n)
mouse
(Mus musculus)
Mammalia Gsx1 33 16 34
  • 87.87 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GSX1 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gsx1 33
  • 70.8 (n)
zebrafish
(Danio rerio)
Actinopterygii gsx1 33 34
  • 67.49 (n)
fruit fly
(Drosophila melanogaster)
Insecta ind 34
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 21 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14218 33
Species where no ortholog for GSX1 was found in the sources mined by GeneCards:
  • 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

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
rs1000477680 -- 27,792,568(+) GCCGC(A/G)CGTTC upstream-variant-2KB
rs1001072649 -- 27,791,172(+) CCATT(C/T)AGGGC upstream-variant-2KB
rs1001491358 -- 27,791,394(+) GTGAC(C/T)AGAAA upstream-variant-2KB
rs1003041464 -- 27,794,164(+) AAAGC(C/G)AACTC downstream-variant-500B
rs1003756564 -- 27,792,290(+) TACGG(C/T)GTGGG upstream-variant-2KB

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

Relevant External Links for GSX1

Genetic Association Database (GAD)
GSX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GSX1

No disorders were found for GSX1 Gene.

No data available for MalaCards , 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 (Molecular endocrinology (Baltimore, Md.) 2001) 3 4 22 60
  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 (European journal of medical genetics 2009) 3 22 60
  3. Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. (PMID: 18951430) Anney RJ … Gill M (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 45 60
  4. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 3 4 60
  5. Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. (PMID: 25086665) Wolpin BM … Amundadottir LT (Nature genetics 2014) 3 60

Products for GSX1 Gene

Sources for GSX1 Gene

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