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GBX1 Gene(Protein Coding)

Gastrulation Brain Homeobox 1

GCID:
GC07M151148
GIFtS:
44
Genes Participants
UDN Logo

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
  • 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 HOXD3.

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

Products:

  1. Regulatory Element

Regulatory Elements for GBX1 Gene

Enhancers for GBX1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GBX1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the GBX1 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for GBX1 Gene

Proteins for GBX1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Proteomics data for GBX1 Gene at MOPED

Protein Expression for GBX1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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:

Protein Domains for GBX1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for GBX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14549

UniProtKB/Swiss-Prot:

GBX1_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
Domain:
  • Contains 1 homeobox DNA-binding domain.
genes like me logo Genes that share domains with GBX1: view

Function for GBX1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for GBX1 Gene

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

Phenotypes for GBX1 Gene

MGI mutant phenotypes for GBX1:
inferred from 4 alleles
GenomeRNAi human phenotypes for GBX1:
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

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GBX1 Gene COMPARTMENTS Subcellular localization image for GBX1 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for GBX1 Gene

Pathways & Interactions for GBX1 Gene

SuperPathways for GBX1 Gene

PathCards logoMore details on SuperPathways for GBX1
No Data Available

Interacting Proteins for GBX1 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000297537%0d%0a9606.ENSP00000307208%0d%0a9606.ENSP00000285039%0d%0a9606.ENSP00000382177%0d%0a9606.ENSP00000261839%0d%0a9606.ENSP00000455507%0d%0a
Selected Interacting proteins: ENSP00000297537 for GBX1 Gene via STRING

Gene Ontology (GO) - Biological Process for GBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0007628 adult walking behavior IEA --
GO:0019230 proprioception IEA --
GO:0021522 spinal cord motor neuron differentiation IEA --
GO:0048663 neuron fate commitment 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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for GBX1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for GBX1 Gene

(2) 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

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
GBX1
ECgene alternative splicing isoforms for
GBX1

Expression for GBX1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for GBX1 Gene

mRNA expression in normal human tissues for GBX1 Gene
mRNA expression by BioGPS for GBX1 GenemRNA expression by GTEx 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



SOURCE GeneReport for Unigene cluster for GBX1 Gene Hs.647114

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

Protein tissue co-expression partners for GBX1 Gene

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
cow
(Bos Taurus)
 Mammalia GBX1 35
  • 88.69 (n)
  • 94.69 (a)
GBX1 36
  • 87 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Gbx1 35
  • 89.88 (n)
  • 93.15 (a)
Gbx1 16
Gbx1 36
  • 79 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia GBX1 35
  • 99.82 (n)
  • 100 (a)
GBX1 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Gbx1 35
  • 89.31 (n)
  • 93.24 (a)
dog
(Canis familiaris)
 Mammalia GBX1 36
  • 69 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia GBX1 36
  • 88 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves GBX1 35
  • 76.62 (n)
  • 79.25 (a)
GBX-1 36
  • 75 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia -- 36
  • 26 (a)
 ManyToMany
zebrafish
(Danio rerio)
 Actinopterygii gbx1 35
  • 67.76 (n)
  • 72.46 (a)
gbx1 36
  • 71 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta unpg 36
  • 28 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea ceh-12 36
  • 30 (a)
 OneToMany
Species with no ortholog for GBX1:
  • 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
rs11975799 - 151,149,101(+) TGATG(C/T)CTCCA reference, missense
rs767865 -- 151,163,610(+) AATGT(G/T)GAAAT intron-variant
rs767866 -- 151,163,534(+) AAAAT(A/G)ACACT intron-variant
rs768403 -- 151,163,159(-) AAGGA(C/T)GCTAT intron-variant
rs1001760 -- 151,150,662(+) CCCTC(A/C/G)CAGGT intron-variant, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv889476 CNV Loss 21882294
dgv7545n71 CNV Loss 21882294
nsv831188 CNV Loss 17160897
dgv7547n71 CNV Loss 21882294

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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 L.W. … Wilson R.K. (Nature 2003) 3 4 67
  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
  3. Comprehensive comparative homeobox gene annotation in human and mouse. (PMID: 26412852) Wilming L.G. … Harrow J.L. (Database (Oxford) 2015) 3
  4. 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
  5. 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

Products for GBX1 Gene

Sources for GBX1 Gene

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