Gene: Tbx10

Basic information

Tag Content
Uniprot ID Q810F8; O54841; Q32MF8; Q6QH75;
Entrez ID 109575
Genbank protein ID AAI09152.1; AAI09151.1; AAS55456.1; AAO73482.1; AAC40116.1;
Genbank nucleotide ID NM_001001320.1; NM_011533.2;
Ensembl protein ID ENSMUSP00000037401
Ensembl nucleotide ID ENSMUSG00000037477
Gene name T-box transcription factor TBX10
Gene symbol Tbx10
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CLP
Developmental stage
Data sources Manually collected
Reference 15118109; 5297683; 7101202;
Functional description Probable transcriptional regulator involved in developmental processes.
Sequence
MAVFLSAGLG VLAPPETCPH PETSTSWESR LGTRFPSGSC TMSTEAQAMA EPTGQGPKNP 60
RVSSVMVQLE MKPLWEEFNQ LGTEMIVTKA GRRMFPTFQV KILGMDTLAD YALLMDFIPL 120
DDKRYRYAFH SSAWLVAGKA DPATPGRVHF HPDSPAKGAQ WMRQIVSFDK LKLTNNLMDD 180
NGHIILNSMH RYQPRFHVVF VDPRKDSARY AQENFKSFVF TETQFTAVTA YQNHRITQLK 240
IASNPFAKGF READPDSWPV TPRPLLSIPA RSRSSLSPCL LKGSAEREKD TSKASASSSR 300
TPTQPHNQLL PAPDVLLAPA TYRPLPYQNL YPGSPSRAGP PRARLAPYPL PNISTAGDQE 360
DPTLAAGLGL LPTSALCLVS NQASQ 385

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologTBX10A0A452G9N7Capra hircusPredictionMore>>
1:1 orthologTBX10347853O75333Homo sapiensPredictionMore>>
1:1 orthologTbx10109575Q810F8CLPMus musculusPublicationMore>>
1:1 orthologTBX10H2Q495Pan troglodytesPredictionMore>>
1:1 orthologTbx10688822D3ZAQ3Rattus norvegicusPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA bindingIBA
GO:0001102 RNA polymerase II activating transcription factor bindingIBA
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specificIBA

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIIBA
GO:0001708 cell fate specificationIBA
GO:0045944 positive regulation of transcription by RNA polymerase IIIBA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusIBA

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0025 Alternative splicing
KW-0238 DNA-binding
KW-0539 Nucleus
KW-1185 Reference proteome
KW-0804 Transcription
KW-0805 Transcription regulation

Interpro

InterPro ID InterPro Term
IPR008967 p53-like_TF_DNA-bd
IPR036960 T-box_sf
IPR001699 TF_T-box
IPR018186 TF_T-box_CS

PROSITE

PROSITE ID PROSITE Term
PS01283 TBOX_1
PS01264 TBOX_2
PS50252 TBOX_3

Pfam

Pfam ID Pfam Term
PF00907 T-box