InnateDB Protein
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IDBP-604283.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TBX5
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Protein Name
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T-box 5
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Synonyms
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HOS;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000433292
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InnateDB Gene
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IDBG-58949 (TBX5)
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Protein Structure
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Function |
Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation.
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Subcellular Localization |
Nucleus {ECO:0000255PROSITE- ProRule:PRU00201}.
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Disease Associations |
Holt-Oram syndrome (HOS) [MIM:142900]: Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects. {ECO:0000269PubMed:10077612, ECO:0000269PubMed:10842287, ECO:0000269PubMed:8988165}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
12
[view]
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Protein-Protein |
12
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001699
Transcription factor, T-box
IPR008967
p53-like transcription factor, DNA-binding
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PFAM |
PF00907
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PRINTS |
PR00937
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PIRSF |
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SMART |
SM00425
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TIGRFAMs |
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Modification |
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SwissProt |
Q99593
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PhosphoSite |
PhosphoSite-Q99593
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
6910
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UniGene |
Hs.603324
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RefSeq |
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HUGO |
HGNC:11604
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OMIM |
601620
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CCDS |
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HPRD |
03372
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IMGT |
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EMBL |
AB051068
AC009260
AC069240
AF221714
BC027942
CH471054
U80987
U89353
Y09445
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GenPept |
AAC04619
AAC51644
AAF34659
AAH27942
BAB55448
CAA70592
EAW98066
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