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Protein

T-box transcription factor TBX10

Gene

TBX10

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Probable transcriptional regulator involved in developmental processes.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi69 – 252T-boxPROSITE-ProRule annotationAdd BLAST184

GO - Molecular functioni

GO - Biological processi

  • anatomical structure morphogenesis Source: ProtInc
  • regulation of transcription by RNA polymerase II Source: ProtInc
  • transcription, DNA-templated Source: UniProtKB-KW

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
T-box transcription factor TBX10
Short name:
T-box protein 10
Gene namesi
Name:TBX10
Synonyms:TBX7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000167800.9
HGNCiHGNC:11593 TBX10
MIMi604648 gene
neXtProtiNX_O75333

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi347853
OpenTargetsiENSG00000167800
PharmGKBiPA36356

Polymorphism and mutation databases

BioMutaiTBX10

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001844411 – 385T-box transcription factor TBX10Add BLAST385

Proteomic databases

PaxDbiO75333
PeptideAtlasiO75333
PRIDEiO75333

PTM databases

iPTMnetiO75333
PhosphoSitePlusiO75333

Expressioni

Gene expression databases

BgeeiENSG00000167800
CleanExiHS_TBX10
GenevisibleiO75333 HS

Organism-specific databases

HPAiHPA047881

Interactioni

Protein-protein interaction databases

BioGridi131494, 1 interactor
STRINGi9606.ENSP00000335191

Structurei

3D structure databases

ProteinModelPortaliO75333
SMRiO75333
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiKOG3586 Eukaryota
ENOG410Y98J LUCA
GeneTreeiENSGT00760000118897
HOGENOMiHOG000286000
HOVERGENiHBG014448
InParanoidiO75333
KOiK10181
OMAiEQEKDPN
OrthoDBiEOG091G0I8R
PhylomeDBiO75333
TreeFamiTF106341

Family and domain databases

CDDicd00182 TBOX, 1 hit
Gene3Di2.60.40.820, 1 hit
InterProiView protein in InterPro
IPR008967 p53-like_TF_DNA-bd
IPR036960 T-box_sf
IPR001699 TF_T-box
IPR018186 TF_T-box_CS
PANTHERiPTHR11267 PTHR11267, 1 hit
PfamiView protein in Pfam
PF00907 T-box, 1 hit
PRINTSiPR00937 TBOX
SMARTiView protein in SMART
SM00425 TBOX, 1 hit
SUPFAMiSSF49417 SSF49417, 1 hit
PROSITEiView protein in PROSITE
PS01283 TBOX_1, 1 hit
PS01264 TBOX_2, 1 hit
PS50252 TBOX_3, 1 hit

Sequencei

Sequence statusi: Complete.

O75333-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAAFLSAGLG ILAPSETYPL PTTSSGWEPR LGSPFPSGPC TSSTGAQAVA
60 70 80 90 100
EPTGQGPKNP RVSRVTVQLE MKPLWEEFNQ LGTEMIVTKA GRRMFPPFQV
110 120 130 140 150
KILGMDSLAD YALLMDFIPL DDKRYRYAFH SSAWLVAGKA DPATPGRVHF
160 170 180 190 200
HPDSPAKGAQ WMRQIVSFDK LKLTNNLLDD NGHIILNSMH RYQPRFHVVF
210 220 230 240 250
VDPRKDSERY AQENFKSFIF TETQFTAVTA YQNHRITQLK IASNPFAKGF
260 270 280 290 300
RESDLDSWPV APRPLLSVPA RSHSSLSPCV LKGATDREKD PNKASASTSK
310 320 330 340 350
TPAWLHHQLL PPPEVLLAPA TYRPVTYQSL YSGAPSHLGI PRTRPAPYPL
360 370 380
PNIRADRDQG GLPLPAGLGL LSPTVVCLGP GQDSQ
Length:385
Mass (Da):42,341
Last modified:August 16, 2004 - v2
Checksum:i1D838C53FB20A77C
GO

Sequence cautioni

The sequence AAC23481 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti200 – 201FV → LL in AAC23481 (PubMed:9545502).Curated2
Sequence conflicti227A → R in AAC23481 (PubMed:9545502).Curated1
Sequence conflicti290D → ET in AAC23481 (PubMed:9545502).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_021984101K → T. Corresponds to variant dbSNP:rs3758938Ensembl.1
Natural variantiVAR_052262160Q → H. Corresponds to variant dbSNP:rs11227873Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY229977 mRNA Translation: AAO73483.1
BC113485 mRNA Translation: AAI13486.1
BC113487 mRNA Translation: AAI13488.1
AH006177 Genomic DNA Translation: AAC23481.1 Sequence problems.
CCDSiCCDS31621.1
RefSeqiNP_005986.2, NM_005995.4
UniGeneiHs.454480

Genome annotation databases

EnsembliENST00000335385; ENSP00000335191; ENSG00000167800
GeneIDi347853
KEGGihsa:347853
UCSCiuc001omp.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTBX10_HUMAN
AccessioniPrimary (citable) accession number: O75333
Secondary accession number(s): Q14D64, Q86XS3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: August 16, 2004
Last modified: March 28, 2018
This is version 141 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
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Main funding by: National Institutes of Health