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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.

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

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
GH07H151007 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +163.6 163619 7 HDGF PKNOX1 ARNT ZFP64 ARID4B DMAP1 SLC30A9 ZNF766 CBX5 ZNF143 ENSG00000244151 NOS3 NUB1 KCNH2 ASIC3 SLC4A2 CDK5 FASTK TMUB1 AGAP3
GH07H151245 1.6 FANTOM5 ENCODE dbSUPER 11.2 -74.6 -74613 9 HDGF PKNOX1 ARNT SIN3A GLI4 ZNF2 ZNF121 GLIS2 ZNF143 SP3 ABCF2 ENSG00000244151 NUB1 SMARCD3 ABCB8 ASB10 GBX1 SLC4A2 TMUB1 AGAP3
GH07H151084 1.4 FANTOM5 ENCODE 10.9 +87.0 86958 5 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ENSG00000243433 SLC4A2 AGAP3 FASTK CDK5 ASIC3 SMARCD3 GBX1 ASB10 ABCB8
GH07H151303 1.1 Ensembl ENCODE 11.2 -129.0 -128958 0 PKNOX1 ATF1 RB1 FUS SIN3A ZNF2 RAD21 GLIS2 ZNF143 ATF7 SMARCD3 ENSG00000243018 GBX1 ASB10 CHPF2 ABCF2 NUB1
GH07H151206 0.9 ENCODE 12.8 -32.5 -32509 2 HDAC1 PKNOX1 TBL1XR1 ARNT TCF12 GATA2 SIRT6 ATF7 CREM USF2 ABCF2 GBX1 CHPF2 SMARCD3 ENSG00000243018 IQCA1L
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GBX1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GBX1 Gene

Chromosome:
7
Start:
151,146,738 bp from pter
End:
151,174,745 bp from pter
Size:
28,008 bases
Orientation:
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:
    Q14549-GBX1_HUMAN
    Recommended name:
    Homeobox protein GBX-1
    Protein Accession:
    Q14549

    Protein attributes for GBX1 Gene

    Size:
    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

HGNC:
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: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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GBX1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

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 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: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

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

Clone Products

  • Applied Biological Materials Clones for GBX1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for GBX1 Gene

GeneLoc Exon Structure for
GBX1
ECgene alternative splicing isoforms for
GBX1

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, PaxDb, and MOPED for GBX1 Gene



Protein tissue co-expression partners for GBX1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GBX1 Gene:

GBX1

SOURCE GeneReport for Unigene cluster for GBX1 Gene:

Hs.647114
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 , 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
chimpanzee
(Pan troglodytes)
Mammalia GBX1 33 34
  • 99.82 (n)
mouse
(Mus musculus)
Mammalia Gbx1 33 16 34
  • 89.88 (n)
rat
(Rattus norvegicus)
Mammalia Gbx1 33
  • 89.31 (n)
cow
(Bos Taurus)
Mammalia GBX1 33 34
  • 88.69 (n)
oppossum
(Monodelphis domestica)
Mammalia GBX1 34
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GBX1 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves GBX1 33
  • 76.62 (n)
GBX-1 34
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 26 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii gbx1 33 34
  • 67.76 (n)
fruit fly
(Drosophila melanogaster)
Insecta unpg 34
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-12 34
  • 30 (a)
OneToMany
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

ENSEMBL:
Gene Tree for GBX1 (if available)
TreeFam:
Gene Tree for GBX1 (if available)

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 Sequence Context AA Info Type
rs1000016666 -- 151,147,577(+) TGTAA(G/T)AACAG downstream-variant-500B
rs1000084655 -- 151,149,211(+) GCCCA(C/T)GGAAC intron-variant
rs1000138844 -- 151,157,122(+) GAAAC(C/G)CTGTC intron-variant
rs1000418276 -- 151,160,909(+) GTTCA(G/T)ACACA intron-variant
rs1000447064 -- 151,162,224(+) CACTT(C/T)CCCCA 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
GBX1

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)
GBX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  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 letters 1993) 2 3 60
  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 letters 1993) 3 4 60
  4. 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 60
  5. cDNA cloning and expression of the human NOBOX gene in oocytes and ovarian follicles. (PMID: 16597639) Huntriss J … Picton HM (Molecular human reproduction 2006) 3 60

Products for GBX1 Gene

Sources for GBX1 Gene

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