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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GBX1 Gene

protein-coding GIFtS: 44
GCID: GC07M150845

Gastrulation Brain Homeobox 1

(Previous name: gastrulation brain homeo box 1)

Search for GBX1
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Gastrulation Brain Homeobox 1¹ ²
Gastrulation And Brain-Specific Homeobox Protein 1² ³
Gastrulation Brain Homeo Box 1¹
Huh-17²
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

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 and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MNX1.

(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.2 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for GBX1 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q14549

GBX1 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_001092304.1

ENSEMBL proteins:

ENSP00000297537

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000228	nuclear chromosome	NAS	--

GBX1 for ontologies About GeneDecksing

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

HGNC Gene Families:

HOXL: Homeoboxes / ANTP class : HOXL subclass

4 InterPro protein domains:

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 domain: IPB000047 Lambda and other repressor helix-turn-helix signature

UniProtKB/Swiss-Prot: GBX1_HUMAN, Q14549

Similarity: Contains 1 homeobox DNA-binding domain

GBX1 for domains About GeneDecksing

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

Molecular Function:

Genatlas biochemistry entry for GBX1:

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

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	--	--
GO:0003700	sequence-specific DNA binding transcription factor activity	NAS	--
GO:0043565	sequence-specific DNA binding	IEA	--

GBX1 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for GBX1:

G0/1 arrest

Increased G1 DNA content

3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Gbx1):

behavior/neurological

nervous system

normal

GBX1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Gbx1^tm1.1Stwt for GBX1

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In Situ Assay
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for GBX1

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation 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, IUPHAR, 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 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for GBX1 gene:

NM_001098834.2

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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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 <intensity>^2/3
CGAP TAG: TCAACAGGTT

About this image

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

SOURCE GeneReport for Unigene cluster: Hs.647114

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In Situ
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(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 5/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Gbx1^{1 , 5}	gastrulation brain homeobox 1^{1, 5}	89.2(n)¹ 92.18(a)¹		5 (11.93 cM)⁵ 231044¹ NM_015739.2¹ NP_056554.1¹ 24502757⁵
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 CG15696⁶	--	26(a) 21(a)	1 ↔ many possible ortholog	2R(5082719-5087377) 3R(16672833-16673372)
worm (Caenorhabditis elegans)	Secernentea	ceh-12⁶ ceh-62⁶	Uncharacterized homeobox protein R06F6.6	26(a) 10(a)	possible ortholog possible ortholog	I(5840289-5841888) II(10805394-10809992)

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

MNX1² EVX1² MEOX1² EVX2² MEOX2² GBX2²

8 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

GBX1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs147290569^1,2	C	--	150845650(+)	`CCCTCA/GCCTTC`	1	--	ds500¹		0	--	--	--	--
rs202046564^1,2		--	150845717(+)	`GCTCCA/GCACAG`	2	R W	mis¹		0	--	--	--	--
rs201566761^1,2	C	--	150845722(+)	`GCACAG/ACAAAC`	2	/A /V	mis¹		1		EU	1323
rs199515474^1,2	C	--	150845788(+)	`CAGAAC/TGGCTG`	2	H R	mis¹		1		EU	1323
rs75176255^1,2	C,F	--	150845853(+)	`ATCTTG/TACCTG`	2	V	syn¹		1		EA	120
rs201417319^1,2	C	--	150845886(+)	`TGGGCG/AATCTG`	2	/I	syn¹		1		EU	1323
rs200785319^1,2		--	150845912(+)	`GCTCAA/GGTATT`	2	L	syn¹		0	--	--	--	--
rs200333232^1,2	C	--	150845977(+)	`TGCGGC/TGCCGT`	2	H R	mis¹		0	--	--	--	--
rs201395169^1,2	C	--	150846022(+)	`TCACCA/GGTGCC`	2	P L	mis¹		0	--	--	--	--
rs6970768^1,2	C,H	--	150846058(+)	`TTCCCT/CTTAGC`	2	/K /R	mis¹ ese³		5		NS EA NA	416

HapMap Linkage Disequilibrium report for GBX1 (150845676 - 150871832 bp)

Structural Variations
Database of Genomic Variants (DGV) 4 variations for GBX1: About this table

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

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, 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: --

Genetic Association Database (GAD): GBX1

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

The DNA sequence of human chromosome 7. (PubMed id 12853948)^{1, 2} Hillier L.W.... Wilson R.K. (2003)
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)
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)
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

		AND	OR
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

Name	Description
PharmGKB entry for GBX1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for GBX1 gene
(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

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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013

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Category			TGFB1 (GIFtS: 73) transforming growth factor, beta 1
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

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes GBX1 gene at Home site.

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GBX1 Gene

Gastrulation Brain Homeobox 1

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GBX1 Gene

Gastrulation Brain Homeobox 1

Aliasesfor GBX1 gene

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Genomic Viewsfor GBX1 gene

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Protein Domains /Familiesfor GBX1 gene

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for GBX1 gene

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for GBX1 gene

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for GBX1 gene

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for GBX1 gene

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for GBX1 gene

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for GBX1 gene

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for GBX1 gene

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for GBX1 gene

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for GBX1 gene

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for GBX1 gene

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