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GSX1 Gene

protein-coding   GIFtS: 45
GCID: GC13P028366

GS Homeobox 1


(Previous symbol: GSH1)
  See GSX1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
GS Homeobox 11 2
GSH11 2 3
Homeobox Protein GSH-12 3
Gsh-12
Genomic Screened Homeo Box 12
GS Homeo Box Protein 12

External Ids:    HGNC: 203741   Entrez Gene: 2194092   Ensembl: ENSG000001698407   UniProtKB: Q9H4S23   

Export aliases for GSX1 gene to outside databases

Previous GC identifers: GC13P027265 GC13P009187


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 sequence-specific DNA binding transcription factor activity. An important paralog of this gene is HOXA3.

UniProtKB/Swiss-Prot: GSX1_HUMAN, Q9H4S2
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000013.10  NC_018924.2  NT_024524.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the GSX1 gene promoter:
         Egr-3   HFH-3   Pbx1a   NRSF form 1   Nkx2-5   NRSF form 2   Arnt   FOXI1   PPAR-alpha   Nkx6-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGSX1 promoter sequence
   Search Chromatin IP Primers for GSX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GSX1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q12.2   Ensembl cytogenetic band:  13q12.2   HGNC cytogenetic band: 13q12.2

GSX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GSX1 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P028366:  view genomic region     (about GC identifiers)

Start:
28,366,780 bp from pter      End:
28,368,905 bp from pter
Size:
2,126 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: GSX1_HUMAN, Q9H4S2 (See protein sequence)
Recommended Name: GS homeobox 1  
Size: 264 amino acids; 27883 Da
Secondary accessions: Q9UD62

Explore the universe of human proteins at neXtProt for GSX1: NX_Q9H4S2

Explore proteomics data for GSX1 at MOPED


See GSX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_663632.1  
ENSEMBL proteins: 
 ENSP00000304331  

GSX1 Human Recombinant Protein Products:

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antibodies-online peptides for GSX1

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
HOXL: Homeoboxes / ANTP class : HOXL subclass

4 InterPro protein domains:
 IPR020479 Homeobox_metazoa
 IPR017970 Homeobox_CS
 IPR001356 Homeobox_dom
 IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry Q9H4S2

ProtoNet protein and cluster: Q9H4S2

1 Blocks protein domain: IPB000047 Lambda and other repressor helix-turn-helix signature

UniProtKB/Swiss-Prot: GSX1_HUMAN, Q9H4S2
Similarity: Belongs to the Antp homeobox family
Similarity: Contains 1 homeobox DNA-binding domain


Find genes that share domains with GSX1           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: GSX1_HUMAN, Q9H4S2
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

     Gene Ontology (GO): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003677DNA binding ----
GO:0003700sequence-specific DNA binding transcription factor activity IEA--
GO:0043565sequence-specific DNA binding IDA11731616
     
Find genes that share ontologies with GSX1           About GenesLikeMe


Phenotypes:
     11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gsx1):
 behavior/neurological  craniofacial  endocrine/exocrine gland  growth/size/body  hematopoietic system 
 immune system  mortality/aging  nervous system  reproductive system  skeleton 
 vision/eye 

Find genes that share phenotypes with GSX1           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Gsx1tm1Ssp for GSX1

   genOway: Develop your customized and physiologically relevant rodent model for GSX1

miRNA
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
GSX1_HUMAN, Q9H4S2: Nucleus (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus3
chloroplast2
cytosol1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IEA--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GSX1
Interactions:

    Search GeneGlobe Interaction Network for GSX1

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

3 Interacting proteins for GSX1 (Q9H4S23 ENSP000003043314) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
IRF9Q009783I2D: score=1 
NKX2-4ENSP000003451474STRING: ENSP00000345147
NKX2-1ENSP000003468794STRING: ENSP00000346879
About this table

Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006351transcription, DNA-templated IEA--
GO:0006355regulation of transcription, DNA-templated ----
GO:0021527spinal cord association neuron differentiation IEA--
GO:0021854hypothalamus development IEA--
GO:0021984adenohypophysis development IEA--

Find genes that share ontologies with GSX1           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for GSX1

1 Novoseek inferred chemical compound relationship for GSX1 gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
gamma-glutamylcysteine 78.6 4 14530437 (1), 11402187 (1), 17853356 (1), 17253982 (1)



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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for GSX1 gene: 
NM_145657.1  

Unigene Cluster for GSX1:

GS homeobox 1
Hs.351785
Unigene Representative Sequence: NM_145657
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000302945(uc001urr.1)
miRNA
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Products:
     
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Predesigned siRNA for gene silencing in human, mouse, rat GSX1
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OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: GSX1 (NM_145657)
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  QuantiFast Probe-based Assays in human, mouse, rat GSX1

Additional mRNA sequence: AB044157.1 

1 DOTS entry:

DT.95187651 

2 AceView cDNA sequences:

NM_145657 AB044157 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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GSX1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TCTCCGTCCT
GSX1 Expression
About this image


GSX1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 3) fully expand
 
 Brain (Nervous System)    fully expand to see all 4 entries
         d5 Neural Progenitor Cells dP5 Neural Domain
         Midbrain tegmentum
 
 Neural Tube (Nervous System)    fully expand to see all 3 entries
         d5 Neural Progenitor Cells dP5 Neural Domain
         Telencephalon
 
 Bone (Muscoskeletal System)
         Membranous Facial Bones
GSX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

GSX1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.351785
    Custom PCR Arrays for GSX1
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GSX1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for GSX1 gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Gsx11 , 5 GS homeobox 11, 5 87.87(n)1
97.7(a)1
  5 (86.79 cM)5
148421  NM_008178.21  NP_032204.11 
 1471886965 
tropical clawed frog
(Xenopus tropicalis)
Amphibia gsx11 GS homeobox 1 70.8(n)
78.1(a)
  734120  NM_001045789.1  NP_001039254.1 
zebrafish
(Danio rerio)
Actinopterygii gsx11 GS homeobox 1 67.49(n)
73.14(a)
  449875  NM_001012251.1  NP_001012251.1 
fruit fly
(Drosophila melanogaster)
Insecta ind6
intermediate neuroblasts defective
28(a)
1 → many
3L(15035894-15037024)


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for GSX1 gene
HOXA32  MEOX12  EVX22  HOXA12  HOXB12  HOXB32  HOXD12  HOXA22  
GSX22  EVX12  HOXB22  MEOX22  PDX12  HOXD32  
1 SIMAP similar gene for GSX1 using alignment to 1 protein entry:     GSX1_HUMAN:
GSX2

Find genes that share paralogs with GSX1           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for GSX1 (see all 61)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 13 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1511613721,2
--9185136(+) GGTCTC/GGCTCT 1 -- us2k10--------
rs770634091,2
F--9185297(+) CTTGCC/TCCCCA 1 -- us2k11Minor allele frequency- T:0.50NA 2
rs12310561,2
C,F,A,H--9185304(+) CCCACC/TCCATG 1 -- us2k113Minor allele frequency- T:0.35NA WA CSA EA 377
rs1931677151,2
--9185340(+) CCTTAC/TTCCTG 1 -- us2k10--------
rs1503597511,2
--9185595(+) ATTCAC/GGGCTC 1 -- us2k10--------
rs1853905871,2
--9185629(+) GGTTCC/TAATAA 1 -- us2k10--------
rs755773341,2
C,F--9185648(+) GTAAAC/TGTCTC 1 -- us2k11Minor allele frequency- T:0.03EA 120
rs1879065951,2
--9185649(+) TAAACC/GTCTCC 1 -- us2k10--------
rs1926843571,2
--9185668(+) GTCCCC/GGGCTG 1 -- us2k10--------
rs1837442071,2
--9185726(+) CTGGGC/TGAAAC 1 -- us2k10--------

HapMap Linkage Disequilibrium report for GSX1 (28366780 - 28368905 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for GSX1: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing GSX1
DNA2.0 Custom Variant and Variant Library Synthesis for GSX1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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1 disease for GSX1:    
About MalaCards
moebius syndrome


Find genes that share disorders with GSX1           About GenesLikeMe

Genetic Association Database (GAD): GSX1

Export disorders for GSX1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for GSX1 gene, integrated from 10 sources (see all 15):
(articles sorted by number of sources associating them with GSX1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Homeobox protein Gsh-1-dependent regulation of the rat GHRH gene promoter. (PubMed id 11731616)1, 2, 9 Mutsuga N.... Saito H. (Mol. Endocrinol. 2001)
  2. Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. (PubMed id 18951430)1, 4 Anney R.J....Gill M. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)
  3. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (Nature 2004)
  4. 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. (PubMed id 19460469)1, 9 Uzumcu A....Basaran S. (Eur J Med Genet 2009)
  5. Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. (PubMed id 23648065)1 Low S.K....Nakamura Y. (Cancer Sci. 2013)
  6. Identification of homeobox genes expressed in human haemopoietic progenitor cells. (PubMed id 7518789)2 Moretti P....D'Andrea R. (Gene 1994)
  7. Novel insight into the regulation of GSH biosynthesis in higher plants. (PubMed id 17853356)9 Rausch T....Wachter A. (Plant Biol (Stuttg) 2007)
  8. The Arabidopsis Ethylene-Insensitive 2 gene is required for lead resistance. (PubMed id 19153049)9 Cao S....Ma X. (Plant Physiol. Biochem. 2009)
  9. Transcriptional profiling of the Candida albicans Ssk1p receiver domain point mutants and their virulence. (PubMed id 18616606)9 Menon V....Chauhan N. (FEMS Yeast Res. 2008)
  10. ParaHox genes in pancreatic cell cultures: effects on the insulin promoter regulation. (PubMed id 18274620)9 Rosanas-Urgell A....Marfany G. (Int. J. Biol. Sci. 2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 219409 HGNC: 20374 AceView: GSH1 Ensembl:ENSG00000169840 euGenes: HUgn219409
ECgene: GSX1 H-InvDB: GSX1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for GSX1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for GSX1 gene:
Search GeneIP for patents involving GSX1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
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 antibodies-online antibodies for GSX1 (17 products)
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 antibodies-online proteins for GSX1 (2 products)
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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