TBX1 (T-box 1)

Identity

Other names	CAFS
	CTHM
	DGCR
	DGS
	DORV
	TBX1C
	TGA
	VCFS
HGNC	TBX1
Location	22q11.21
Location_base_pair	Starts at 18124226 and ends at 18151112 bp from pter (hg18-March_2006).
Note	Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

External links

	Nomenclature
HGNC	TBX1   11592
Entrez_Gene	TBX1  6899  T-box 1
	Cards
GeneCards	TBX1
Ensembl	TBX1 [Search_View]   ENSG00000184058 [Gene_View]
Genatlas	TBX1
GeneLynx	TBX1
eGenome	TBX1
euGene	6899
	Genomic and cartography
GoldenPath	TBX1  -  22q11.21   chr22:18124226-18151112 +  22q11.21   [Description]    (hg18-March_2006)
Ensembl	TBX1 - 22q11.21 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	TBX1
	Gene and transcription
Genbank	AF012130 [ ENTREZ ]
Genbank	AF012131 [ ENTREZ ]
Genbank	AF373867 [ ENTREZ ]
RefSeq	NM_005992 [ SRS ]    NM_005992 [ ENTREZ ]
RefSeq	NM_080646 [ SRS ]    NM_080646 [ ENTREZ ]
RefSeq	NM_080647 [ SRS ]    NM_080647 [ ENTREZ ]
RefSeq	AC_000065 [ SRS ]    AC_000065 [ ENTREZ ]
RefSeq	AC_000154 [ SRS ]    AC_000154 [ ENTREZ ]
RefSeq	NC_000022 [ SRS ]    NC_000022 [ ENTREZ ]
RefSeq	NT_011519 [ SRS ]    NT_011519 [ ENTREZ ]
RefSeq	NW_001838737 [ SRS ]    NW_001838737 [ ENTREZ ]
RefSeq	NW_927495 [ SRS ]    NW_927495 [ ENTREZ ]
AceView	TBX1 AceView - NCBI
Unigene	Hs.173984 [ SRS ]    Hs.173984 [ NCBI ]     HS173984 [ spliceNest ]
Fast-db	1338 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	O43435 [ SRS]    O43435 [ EXPASY ]     O43435 [ INTERPRO ]     O43435 [ UNIPROT ]
Prosite	PS01283 TBOX_1 [ SRS ]    PS01283 TBOX_1 [ Expasy ]
Prosite	PS01264 TBOX_2 [ SRS ]    PS01264 TBOX_2 [ Expasy ]
Prosite	PS50252 TBOX_3 [ SRS ]    PS50252 TBOX_3 [ Expasy ]
Interpro	IPR001699 TF_T-box [ SRS ]    IPR001699 TF_T-box [ EBI ]
CluSTr	O43435
Pfam	PF00907 T-box [ SRS ]    PF00907 T-box [ Sanger ]    pfam00907 [ NCBI-CDD ]
Smart	SM00425 TBOX [EMBL]
Blocks	O43435
HPRD	09069
	Protein Interaction databases
DIP	O43435
IntAct	O43435
	Polymorphism : SNP, mutations, diseases
OMIM	188400;192430;217095;602054    [ map ]
GENECLINICS	188400;192430;217095;602054
SNP	TBX1 [dbSNP-NCBI]
SNP	NM_005992 [SNP-NCI]
SNP	NM_080646 [SNP-NCI]
SNP	NM_080647 [SNP-NCI]
SNP	TBX1 [GeneSNPs - Utah]  TBX1] [HGBASE - SRS]
HAPMAP	TBX1 [HAPMAP]
HGMD	TBX1
	General knowledge
Family Browser	TBX1 [UCSC Family Browser]
SOURCE	NM_005992
SOURCE	NM_080646
SOURCE	NM_080647
SMD	Hs.173984
SAGE	Hs.173984
GO	transcription factor activity [Amigo]  transcription factor activity
GO	RNA polymerase II transcription factor activity [Amigo]  RNA polymerase II transcription factor activity
GO	nucleus [Amigo]  nucleus
GO	regulation of transcription from RNA polymerase II promoter [Amigo]  regulation of transcription from RNA polymerase II promoter
GO	heart development [Amigo]  heart development
GO	protein homodimerization activity [Amigo]  protein homodimerization activity
GO	sequence-specific DNA binding [Amigo]  sequence-specific DNA binding
GO	thymus development [Amigo]  thymus development
GO	embryonic viscerocranium morphogenesis [Amigo]  embryonic viscerocranium morphogenesis
GO	parathyroid gland development [Amigo]  parathyroid gland development
GO	soft palate development [Amigo]  soft palate development
GO	pharyngeal system development [Amigo]  pharyngeal system development
PubGene	TBX1
TreeFam	TBX1
CTD	6899 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	TBX1 Related clones (RZPD - Berlin)
	PubMed
PubMed	18 Pubmed reference(s) in Entrez

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S
Updated	03-2008	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Oct 11 13:34:33 2008