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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. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is GBX2.

No data available for Entrez Gene 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

Regulatory Elements for GBX1 Gene

Enhancers for GBX1 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
GH07F151131 0.8 ENCODE 17.8 +42.6 42619 1.7 CTCF ZFHX2 ZNF366 REST MNT EGR2 GBX1 AGAP3 ASB10 TMUB1 FASTK ENSG00000244151 SLC4A2 LOC105375569 SMARCD3 ABCB8
GH07F151206 0.9 ENCODE 12.8 -32.5 -32509 2.1 HDAC1 PKNOX1 CBX3 TBL1XR1 GATA2 SIRT6 FOS CREM ZNF680 USF2 ABCF2 GBX1 CHPF2 MIR671 SMARCD3 LOC105375569 IQCA1L
GH07F151138 0.5 ENCODE 12 +36.1 36097 0.1 GBX1 ASB10 AGAP3 TMUB1 FASTK ENSG00000244151 LOC105375569 SMARCD3 SLC4A2 ENSG00000243433
GH07F151245 0.8 FANTOM5 ENCODE 11.2 -74.6 -74613 9.1 HDGF PKNOX1 GLI4 ZNF2 ZNF121 GLIS2 FOS ZNF263 SP3 YY2 ABCF2 SMARCD3 ABCB8 ENSG00000244151 ASB10 GBX1 SLC4A2 TMUB1 AGAP3 FASTK
GH07F151303 0.7 Ensembl ENCODE 11.2 -128.9 -128916 0.9 HDGF ZNF2 RAD21 GLIS2 ZNF143 EGR2 THAP11 REST SMARCA4 MTA1 SMARCD3 LOC105375569 ASB10 GBX1 CHPF2 MIR671 ABCF2 NUB1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GBX1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GBX1 Gene

151,146,738 bp from pter
151,174,745 bp from pter
28,008 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

Suggested Antigen Peptide Sequences for GBX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 homeobox DNA-binding domain.
  • Contains 1 homeobox DNA-binding domain.
genes like me logo Genes that share domains with GBX1: view

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

Gene Ontology (GO) - Molecular Function for GBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Jensen Localization Image for GBX1 Gene 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

Pathways & Interactions for GBX1 Gene

SuperPathways 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:0007628 adult walking behavior IEA --
GO:0019230 proprioception IEA --
GO:0021522 spinal cord motor neuron differentiation 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

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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, PaxDb, 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

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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 35
  • 99.82 (n)
(Mus musculus)
Mammalia Gbx1 34 16 35
  • 89.88 (n)
(Rattus norvegicus)
Mammalia Gbx1 34
  • 89.31 (n)
(Bos Taurus)
Mammalia GBX1 34 35
  • 88.69 (n)
(Monodelphis domestica)
Mammalia GBX1 35
  • 88 (a)
(Canis familiaris)
Mammalia GBX1 35
  • 69 (a)
(Gallus gallus)
Aves GBX1 34
  • 76.62 (n)
GBX-1 35
  • 75 (a)
(Anolis carolinensis)
Reptilia -- 35
  • 26 (a)
(Danio rerio)
Actinopterygii gbx1 34 35
  • 67.76 (n)
fruit fly
(Drosophila melanogaster)
Insecta unpg 35
  • 28 (a)
(Caenorhabditis elegans)
Secernentea ceh-12 35
  • 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)

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 Sequence Context AA Info Type
rs1001760 -- 151,150,662(+) CCCTC(A/G)CAGGT intron-variant
rs10255045 -- 151,169,377(+) GGGGA(A/G)GTGAT upstream-variant-2KB
rs10275141 -- 151,156,739(+) tagca(C/T)tttgg intron-variant
rs111509677 -- 151,154,117(+) CCTGT(A/G)ATTCC intron-variant
rs111645831 -- 151,162,093(+) ACAAC(G/T)CCTAA 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)

Relevant External Links for GBX1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for GBX1 Gene

Relevant External Links for GBX1

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

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 L.W. … Wilson R.K. (Nature 2003) 3 4 64
  2. 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 Lett. 1993) 2 3 64
  3. Expression of a novel human homeobox-containing gene that maps to chromosome 7q36.1 in hematopoietic cells. (PMID: 8097731) Matsui T. … Kurosawa Y. (FEBS Lett. 1993) 3 4 64
  4. Comprehensive comparative homeobox gene annotation in human and mouse. (PMID: 26412852) Wilming L.G. … Harrow J.L. (Database (Oxford) 2015) 3 64
  5. cDNA cloning and expression of the human NOBOX gene in oocytes and ovarian follicles. (PMID: 16597639) Huntriss J. … Picton H.M. (Mol. Hum. Reprod. 2006) 3 64

Products for GBX1 Gene

Sources for GBX1 Gene

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