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Protein

T-box transcription factor TBX10

Gene

TBX10

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Probable transcriptional regulator involved in developmental processes.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi69 – 252184T-boxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

  • anatomical structure morphogenesis Source: ProtInc
  • regulation of transcription from RNA polymerase II promoter Source: ProtInc
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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

HGNCiHGNC:11593. TBX10.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA36356.

Polymorphism and mutation databases

BioMutaiTBX10.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 385385T-box transcription factor TBX10PRO_0000184441Add
BLAST

Proteomic databases

PaxDbiO75333.
PRIDEiO75333.

PTM databases

iPTMnetiO75333.
PhosphoSiteiO75333.

Expressioni

Gene expression databases

BgeeiO75333.
CleanExiHS_TBX10.
GenevisibleiO75333. HS.

Organism-specific databases

HPAiHPA047881.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000335191.

Structurei

3D structure databases

ProteinModelPortaliO75333.
SMRiO75333. Positions 65-252.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 1 T-box DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3586. Eukaryota.
ENOG410Y98J. LUCA.
GeneTreeiENSGT00760000118897.
HOGENOMiHOG000286000.
HOVERGENiHBG014448.
InParanoidiO75333.
KOiK10181.
OMAiWEPRLDS.
OrthoDBiEOG7GN2PM.
PhylomeDBiO75333.
TreeFamiTF106341.

Family and domain databases

Gene3Di2.60.40.820. 1 hit.
InterProiIPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERiPTHR11267. PTHR11267. 1 hit.
PfamiPF00907. T-box. 1 hit.
[Graphical view]
PRINTSiPR00937. TBOX.
SMARTiSM00425. TBOX. 1 hit.
[Graphical view]
SUPFAMiSSF49417. SSF49417. 1 hit.
PROSITEiPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]

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 AAC23481.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti200 – 2012FV → LL in AAC23481 (PubMed:9545502).Curated
Sequence conflicti227 – 2271A → R in AAC23481 (PubMed:9545502).Curated
Sequence conflicti290 – 2901D → ET in AAC23481 (PubMed:9545502).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti101 – 1011K → T.
Corresponds to variant rs3758938 [ dbSNP | Ensembl ].
VAR_021984
Natural varianti160 – 1601Q → H.
Corresponds to variant rs11227873 [ dbSNP | Ensembl ].
VAR_052262

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliO75333.
SMRiO75333. Positions 65-252.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000335191.

PTM databases

iPTMnetiO75333.
PhosphoSiteiO75333.

Polymorphism and mutation databases

BioMutaiTBX10.

Proteomic databases

PaxDbiO75333.
PRIDEiO75333.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi347853.
GeneCardsiTBX10.
HGNCiHGNC:11593. TBX10.
HPAiHPA047881.
MIMi604648. gene.
neXtProtiNX_O75333.
PharmGKBiPA36356.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3586. Eukaryota.
ENOG410Y98J. LUCA.
GeneTreeiENSGT00760000118897.
HOGENOMiHOG000286000.
HOVERGENiHBG014448.
InParanoidiO75333.
KOiK10181.
OMAiWEPRLDS.
OrthoDBiEOG7GN2PM.
PhylomeDBiO75333.
TreeFamiTF106341.

Miscellaneous databases

GenomeRNAii347853.
PROiO75333.
SOURCEiSearch...

Gene expression databases

BgeeiO75333.
CleanExiHS_TBX10.
GenevisibleiO75333. HS.

Family and domain databases

Gene3Di2.60.40.820. 1 hit.
InterProiIPR008967. p53-like_TF_DNA-bd.
IPR001699. TF_T-box.
IPR018186. TF_T-box_CS.
[Graphical view]
PANTHERiPTHR11267. PTHR11267. 1 hit.
PfamiPF00907. T-box. 1 hit.
[Graphical view]
PRINTSiPR00937. TBOX.
SMARTiSM00425. TBOX. 1 hit.
[Graphical view]
SUPFAMiSSF49417. SSF49417. 1 hit.
PROSITEiPS01283. TBOX_1. 1 hit.
PS01264. TBOX_2. 1 hit.
PS50252. TBOX_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The T-box gene Tbx10 exhibits a uniquely restricted expression pattern during mouse embryogenesis."
    Bush J.O., Maltby K.M., Cho E.-S., Jiang R.
    Gene Expr. Patterns 3:533-538(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "TBX10, a member of the Tbx1-subfamily of conserved developmental genes, is located at human chromosome 11q13 and proximal mouse chromosome 19."
    Law D.J., Garvey N., Agulnik S.I., Perlroth V., Hahn O.M., Rhinehart R.E., Gebuhr T.C., Silver L.M.
    Mamm. Genome 9:397-399(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 126-335.
    Tissue: Lymph node.

Entry informationi

Entry nameiTBX10_HUMAN
AccessioniPrimary (citable) accession number: O75333
Secondary accession number(s): Q14D64, Q86XS3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: August 16, 2004
Last modified: June 8, 2016
This is version 130 of the entry and version 2 of the sequence. [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

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.