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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GBX1 Gene

protein-coding   GIFtS: 41
GCID: GC07M150845

gastrulation brain homeobox 1

(Previous name: gastrulation brain homeo box 1 )
  Search for GBX1
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Gastrulation Brain Homeobox 11 2
Gastrulation Brain Homeo Box 11 2
Gastrulation And Brain-Specific Homeobox Protein 12 3
Homeobox Protein GBX-12

External Ids:    HGNC: 41851   Entrez Gene: 26362   Ensembl: ENSG000001649007   OMIM: 6033545   UniProtKB: Q145493   

Export aliases for GBX1 gene to outside databases

Previous GC identifers: GC07U990039 GC07M149093 GC07M150160 GC07M150237 GC07M150283 GC07M150476 GC07M144657


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007914.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GBX1 gene promoter:
         HNF-4alpha2   HNF-4alpha1   NF-AT   NF-AT4   NF-AT2   POU2F1   POU2F1a   NF-AT3   NF-AT1   ATF   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for GBX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GBX1


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

Entrez Gene cytogenetic band: 7q36.1   Ensembl cytogenetic band:  7q36.1   HGNC cytogenetic band: 7q36.1

GBX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GBX1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M150845:  view genomic region     (about GC identifiers)

Start:
150,845,676 bp from pter      End:
150,871,832 bp from pter
Size:
26,157 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 150,175,196-150,194,388     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GBX1_HUMAN, Q14549 (See protein sequence)
Recommended Name: Homeobox protein GBX-1  
Size: 363 amino acids; 37629 Da
Subcellular location: Nucleus (By similarity)
1 PDB 3D structure from and Proteopedia for GBX1:
2M34 (3D)    

Explore the universe of human proteins at neXtProt for GBX1: NX_Q14549

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14549

  • GBX1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001092304.1  
    ENSEMBL proteins: 
     ENSP00000297537   ENSP00000447905  

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    Uscn Proteins for GBX1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000228nuclear chromosome NAS--


    GBX1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GBX1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR020479 Homeobox_metazoa
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q14549

    ProtoNet protein and cluster: Q14549

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

    UniProtKB/Swiss-Prot: GBX1_HUMAN, Q14549
    Similarity: Contains 1 homeobox DNA-binding domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:
         Genatlas biochemistry entry for GBX1:
    mouse telencephalon expressed Gbx homolog 1,gastrulation and brain speciifc-2,homeo domain encoding gene

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity NAS--
    GO:0043565sequence-specific DNA binding IEA--


    GBX1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for GBX1:
     G0/1 arrest  Increased G1 DNA content 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GBX1

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent NAS--


    GBX1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GBX1
    Search CenterWatch for drugs/clinical trials and news about GBX1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GBX1 gene: 
    NM_001098834.1  

    Unigene Cluster for GBX1:

    Gastrulation brain homeobox 1
    Hs.647114  [show with all ESTs]
    Unigene Representative Sequence: NM_001098834
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000297537(uc011kvg.2) ENST00000475831

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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GBX1 (see all 4)
    OriGene shRNA RFP: GBX1
    OriGene siRNA: GBX1
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    Clone
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    1 DOTS entry:

    DT.121044377 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GBX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCAACAGGTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See GBX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GBX1

    SOURCE GeneReport for Unigene cluster: Hs.647114
        SABiosciences Custom PCR Arrays for GBX1
    Primer
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    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for GBX1

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for GBX1 gene from 3/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves GBX11 gastrulation brain homeobox 1 76.64(n)
    79.13(a)
      395377  XM_003640629.1  XP_003640677.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gbx11 gastrulation brain homeobox 1 66.88(n)
    71.06(a)
      142985  NM_174861.2  NP_777286.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta unpg6
    lms6
    lateral muscles scarcer
    23(a)
    10(a)
    1 ↔ many
    possible ortholog
    2R(5082719-5087377)
    2R(16444364-16447458)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GBX1 gene
    NKX1-22  MEOX12  EVX12  MNX12  MEOX22  EVX22  NKX1-12  GBX22  
    9 SIMAP similar genes for GBX1 using alignment to 2 protein entries:     GBX1_HUMAN (see all proteins):
    HMX2    HOX B6    HOXA4    HOXB1    HHEX    HOXC13
    GBX2    HOXD11    MEOX1

    GBX1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/281 NCBI SNPs in GBX1 are shown (see all 281    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1472905691,2
    C,--150845650(+) CCCTCA/GCCTTC 1 -- ds50010--------
    rs2020465641,2
    --150845717(+) GCTCCA/GCACAG 2 R W mis10--------
    rs2015667611,2
    C--150845722(+) GCACAG/ACAAAC 2 /A /V mis11Minor allele frequency- A:0.00EU 1323
    rs1995154741,2
    C--150845788(+) CAGAAC/TGGCTG 2 H R mis11Minor allele frequency- T:0.00EU 1323
    rs751762551,2
    C,F,--150845853(+) ATCTTG/TACCTG 2 V syn11Minor allele frequency- T:0.03EA 120
    rs2007853191,2
    --150845912(+) GCTCAA/GGTATT 2 L syn10--------
    rs69707681,2
    C,H--150846058(+) TTCCCT/CTTAGC 2 /K /R mis1 ese35Minor allele frequency- C:0.00NS EA NA 416
    rs2001199341,2
    --150846083(+) CAGAAA/GAGCCC 2 L F mis10--------
    rs1924790271,2
    C,--150846105(+) GCAGAA/CCTGTC 2 R S mis10--------
    rs119757991,2
    C,F,H,--150846188(+) TGATGC/TCTCCA 2 T A mis18Minor allele frequency- T:0.05NS EA NA WA 600

    HapMap Linkage Disequilibrium report for GBX1 (150845676 - 150871832 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for GBX1
         1 CNV: 4574

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    DNA2.0 Custom Variant and Variant Library Synthesis for GBX1

    (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.)
    About This Section

    GBX1 for disorders           About MalaCards

    GBX1 for disorders           About GeneDecksing

    OMIM gene information: 603354    OMIM disorders: --


    Export disorders for GBX1 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)
    About This Section

    PubMed articles for GBX1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with GBX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    2. Expression of a novel human homeobox-containing gene that maps to chromosome 7q36.1 in hematopoietic cells. (PubMed id 8097731)1, 2 Matsui T.... Kurosawa Y. (1993)
    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. (PubMed id 7903253)1, 3 Matsui T.... Kurosawa Y. (1993)
    4. cDNA cloning and expression of the human NOBOX gene in oocytes and ovarian follicles. (PubMed id 16597639)1 Huntriss J.... Picton H.M. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2636 HGNC: 4185 Ensembl:ENSG00000164900 euGenes: HUgn2636 ECgene: GBX1
    H-InvDB: GBX1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GBX1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GBX1 gene:
    Search GeneIP for patents involving GBX1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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