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Aliases for GBX1 Gene

Aliases for GBX1 Gene

  • Gastrulation Brain Homeobox 1 2 3 5
  • Gastrulation And Brain-Specific Homeobox Protein 1 3 4
  • Gastrulation Brain Homeo Box 1 2
  • Homeobox Protein GBX-1 3
  • Huh-17 3

External Ids for GBX1 Gene

Previous GeneCards Identifiers for GBX1 Gene

  • GC07U990039
  • GC07M149093
  • GC07M150160
  • GC07M150237
  • GC07M150283
  • GC07M150476
  • GC07M150845
  • GC07M144657

Summaries for GBX1 Gene

GeneCards Summary for GBX1 Gene

GBX1 (Gastrulation Brain Homeobox 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is GBX2.

Additional gene information for GBX1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GBX1 Gene

Genomics for GBX1 Gene

GeneHancer (GH) Regulatory Elements for GBX1 Gene

Promoters and enhancers for GBX1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J151167 Promoter 1.5 EPDnew Ensembl 650.4 +7.0 7044 0.6 ZSCAN5A CTCF MEIS2 LEF1 PKNOX1 ZBTB6 ZNF223 ZBTB8A YY1 FOXM1 GBX1 ASB10 SMARCD3 ENSG00000243018 LRRC61 PIR50531
GH07J151245 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.2 -74.6 -74612 9.1 HDGF PKNOX1 FOXA2 ARNT SIN3A ZNF2 YY1 ZNF143 KLF13 ZNF263 SMARCD3 ENSG00000243018 ENSG00000244151 NUB1 ABCF2 ASB10 GBX1 ENSG00000229591 SLC4A2 TMUB1
GH07J151084 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 10.9 +87.0 86957 5.9 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 AGAP3 GC07M151084 ENSG00000243433 SLC4A2 FASTK CDK5 ASIC3 SMARCD3 GBX1 ASB10
GH07J151007 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +163.6 163619 7.7 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 SLC30A9 POLR2B ENSG00000244151 NOS3 NUB1 KCNH2 ASIC3 CDK5 SLC4A2 FASTK TMUB1 AGAP3
GH07J151206 Enhancer 0.9 ENCODE 12.8 -32.5 -32509 2.1 HDAC1 PKNOX1 ARNT TCF12 GATA2 SIRT6 ATF7 CREM PHF21A REST IQCA1L ABCF2 GBX1 CHPF2 SMARCD3 ENSG00000243018 ENSG00000285480
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GBX1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GBX1 gene promoter:
  • NF-AT4
  • NF-AT3
  • NF-AT2
  • NF-AT1
  • NF-AT
  • ATF
  • HNF-4alpha1
  • HNF-4alpha2
  • POU2F1
  • POU2F1a

Genomic Locations for GBX1 Gene

Genomic Locations for GBX1 Gene
28,008 bases
Minus strand
26,157 bases
Minus strand

Genomic View for GBX1 Gene

Genes around GBX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GBX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GBX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GBX1 Gene

Proteins for GBX1 Gene

  • Protein details for GBX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Homeobox protein GBX-1
    Protein Accession:

    Protein attributes for GBX1 Gene

    363 amino acids
    Molecular mass:
    37629 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GBX1 Gene

neXtProt entry for GBX1 Gene

Post-translational modifications for GBX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GBX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GBX1 Gene

Domains & Families for GBX1 Gene

Gene Families for GBX1 Gene

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

Suggested Antigen Peptide Sequences for GBX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with GBX1: view

No data available for UniProtKB/Swiss-Prot for GBX1 Gene

Function for GBX1 Gene

Molecular function for GBX1 Gene

GENATLAS Biochemistry:
mouse telencephalon expressed Gbx homolog 1,gastrulation and brain speciifc-2,homeo domain encoding gene

Phenotypes From GWAS Catalog for GBX1 Gene

Gene Ontology (GO) - Molecular Function for GBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM 19274049
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with GBX1: view
genes like me logo Genes that share phenotypes with GBX1: view

Animal Models for GBX1 Gene

MGI Knock Outs for GBX1:
  • Gbx1 Gbx1<tm1.1Stwt>
  • Gbx1 Gbx1<tm1Mrh>
  • Gbx1 Gbx1<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GBX1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for GBX1 Gene

Localization for GBX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GBX1 Gene

Subcellular locations from

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 GBX1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for GBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with GBX1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GBX1 Gene

Pathways & Interactions for GBX1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007628 adult walking behavior IEA --
GO:0019230 proprioception IEA --
genes like me logo Genes that share ontologies with GBX1: view

No data available for Pathways by source and SIGNOR curated interactions for GBX1 Gene

Drugs & Compounds for GBX1 Gene

No Compound Related Data Available

Transcripts for GBX1 Gene

mRNA/cDNA for GBX1 Gene

(3) REFSEQ mRNAs :
(0) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GBX1 Gene

Gastrulation brain homeobox 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GBX1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GBX1 Gene

No ASD Table

Relevant External Links for GBX1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GBX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GBX1 Gene

mRNA differential expression in normal tissues according to GTEx for GBX1 Gene

This gene is overexpressed in Testis (x31.1) and Muscle - Skeletal (x9.5).

Protein differential expression in normal tissues from HIPED for GBX1 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GBX1 Gene

Protein tissue co-expression partners for GBX1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GBX1 Gene:


SOURCE GeneReport for Unigene cluster for GBX1 Gene:

genes like me logo Genes that share expression patterns with GBX1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GBX1 Gene

Orthologs for GBX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GBX1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GBX1 34 33
  • 99.82 (n)
(Mus musculus)
Mammalia Gbx1 16 34 33
  • 89.88 (n)
(Rattus norvegicus)
Mammalia Gbx1 33
  • 89.31 (n)
(Bos Taurus)
Mammalia GBX1 34 33
  • 88.69 (n)
(Monodelphis domestica)
Mammalia GBX1 34
  • 88 (a)
(Canis familiaris)
Mammalia GBX1 34
  • 69 (a)
(Gallus gallus)
Aves GBX1 33
  • 76.62 (n)
GBX-1 34
  • 75 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 26 (a)
(Danio rerio)
Actinopterygii gbx1 34 33
  • 67.76 (n)
fruit fly
(Drosophila melanogaster)
Insecta unpg 34
  • 28 (a)
(Caenorhabditis elegans)
Secernentea ceh-12 34
  • 30 (a)
Species where no ortholog for GBX1 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GBX1 Gene

Gene Tree for GBX1 (if available)
Gene Tree for GBX1 (if available)
Evolutionary constrained regions (ECRs) for GBX1: view image

Paralogs for GBX1 Gene

Paralogs for GBX1 Gene

(8) SIMAP similar genes for GBX1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GBX1: view

Variants for GBX1 Gene

Sequence variations from dbSNP and Humsavar for GBX1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000016666 -- 151,147,577(-) G/T downstream_transcript_variant
rs1000084655 -- 151,149,211(-) T/C intron_variant
rs1000138844 -- 151,157,122(-) C/G intron_variant
rs1000418276 -- 151,160,909(-) G/T intron_variant
rs1000447064 -- 151,162,224(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GBX1 Gene

Variant ID Type Subtype PubMed ID
dgv3695n106 OTHER inversion 24896259
nsv1067934 OTHER inversion 25765185
nsv1151906 OTHER inversion 26484159
nsv609034 CNV loss 21841781
nsv831188 CNV loss 17160897

Variation tolerance for GBX1 Gene

Residual Variation Intolerance Score: 78.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.94; 49.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GBX1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GBX1 Gene

Disorders for GBX1 Gene

Additional Disease Information for GBX1

No disorders were found for GBX1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GBX1 Gene

Publications for GBX1 Gene

  1. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 58
  2. Expression of a novel human homeobox-containing gene that maps to chromosome 7q36.1 in hematopoietic cells. (PMID: 8097731) Matsui T … Kurosawa Y (FEBS letters 1993) 3 4 58
  3. The HOX complex neighbored by the EVX gene, as well as two other homeobox-containing genes, the GBX-class and the EN-class, are located on the same chromosomes 2 and 7 in humans. (PMID: 7903253) Matsui T … Kurosawa Y (FEBS letters 1993) 2 3 58
  4. Dynamic Local Polymorphisms in the Gbx1 Homeodomain Induced by DNA Binding. (PMID: 27396829) Proudfoot A … Serrano P (Structure (London, England : 1993) 2016) 3 58
  5. Comprehensive comparative homeobox gene annotation in human and mouse. (PMID: 26412852) Wilming LG … Harrow JL (Database : the journal of biological databases and curation 2015) 3 58

Products for GBX1 Gene

Sources for GBX1 Gene

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