Aliases for GSX1 Gene

Aliases for GSX1 Gene

  • GS Homeobox 1 2 3 4 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 Conduct Disorder and Moebius Syndrome. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific. An important paralog of this gene is NOTO.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for GSX1 Gene

Genomics for GSX1 Gene

GeneHancer (GH) Regulatory Elements for GSX1 Gene

Promoters and enhancers for GSX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J027792 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 500.7 +0.4 418 1 USF1 ZIC2 REST ZNF423 GABPA ZBTB26 KLF7 TGIF2 HDAC2 ZNF341 GSX1 piR-35674-123
GH13J027790 Promoter 1 UCNEbase Ensembl 500.7 -2.0 -1994 0.6 EZH2 ZNF664 RNF2 KLF1 SUZ12 ZNF652 GSX1 piR-43105-134
GH13J027791 Promoter 0.8 Ensembl 500.7 -1.2 -1182 0.6 EZH2 ZBTB17 ZFHX2 ZNF335 CBX8 SUZ12 ZNF664 RNF2 KLF1 FOXA2 GSX1 piR-43105-134
GH13J027794 Promoter 0.6 Ensembl 500.7 +1.4 1417 0.6 ZBTB17 EZH2 SUZ12 RNF2 PRDM10 ZBTB20 GSX1 piR-35674-123
GH13J027958 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.8 +178.1 178054 23.4 EP300 ZNF217 CTCF POLR2G USF1 TEAD4 KDM6A ZBTB10 TCF7 FOXA1 CDX2 URAD PLUT PDX1 GSX1 RN7SL272P LNX2 FLT3 HSALNG0095985 LOC105370132
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GSX1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GSX1

Top Transcription factor binding sites by QIAGEN in the GSX1 gene promoter:
  • Arnt
  • Egr-3
  • FOXI1
  • HFH-3
  • Nkx2-5
  • Nkx6-1
  • NRSF form 1
  • NRSF form 2
  • Pbx1a
  • PPAR-alpha

Genomic Locations for GSX1 Gene

Genomic Locations for GSX1 Gene
chr13:27,792,483-27,794,768
(GRCh38/hg38)
Size:
2,286 bases
Orientation:
Plus strand
chr13:28,366,780-28,368,905
(GRCh37/hg19)
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

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

Protein Domains for GSX1 Gene

Blocks:
  • Lambda and other repressor helix-turn-helix signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GSX1 Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein GSH-1 (GSX1_HUMAN)

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 proximal promoter sequence-specific DNA binding IEA,IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001162 RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IBA 21873635
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
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

CRISPR 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 4
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GSX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA 21873635
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

PathCards logo

SuperPathways for GSX1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GSX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0007417 central nervous system development IBA 21873635
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 :
1 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for GSX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for GSX1 Gene



Protein tissue co-expression partners for GSX1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.87 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GSX1 31
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GSX1 31 30
  • 92.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GSX1 30
  • 92.38 (n)
rat
(Rattus norvegicus)
Mammalia Gsx1 30
  • 88.89 (n)
mouse
(Mus musculus)
Mammalia Gsx1 17 31 30
  • 87.87 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GSX1 31
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gsx1 30
  • 70.8 (n)
zebrafish
(Danio rerio)
Actinopterygii gsx1 31 30
  • 67.49 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ind 31
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 21 (a)
OneToMany
Cin.14218 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14218 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for GSX1: view image

Paralogs for GSX1 Gene

Paralogs for GSX1 Gene

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

  • GSX1_HUMAN
genes like me logo Genes that share paralogs with GSX1: view

Variants for GSX1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GSX1 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
722205 Benign: not provided 27,793,053(+) G/A SYNONYMOUS_VARIANT
722206 Benign: not provided 27,793,054(+) A/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GSX1 Gene

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)

Additional Variant Information for GSX1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GSX1

SNP Genotyping and Copy Number Assay Products

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

(2) MalaCards diseases for GSX1 Gene - From: DISEASES and GeneCards

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

Additional Disease Information for 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 (Molecular endocrinology (Baltimore, Md.) 2001) 3 4 23 54
  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 23 54
  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 41 54
  4. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 3 4 54
  5. Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. (PMID: 25086665) Wolpin BM … Amundadottir LT (Nature genetics 2014) 3 54

Products for GSX1 Gene

Sources for GSX1 Gene