P97474 · PITX2_MOUSE
- ProteinPituitary homeobox 2
- GenePitx2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids317 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
May play a role in myoblast differentiation. When unphosphorylated, associates with an ELAVL1-containing complex, which stabilizes cyclin mRNA and ensuring cell proliferation. Phosphorylation by AKT2 impairs this association, leading to CCND1 mRNA destabilization and progression towards differentiation.
Isoform Ptx2c
Involved in the establishment of left-right asymmetry in the developing embryo.
Features
Showing features for dna binding.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
DNA binding | 85-144 | Homeobox | ||||
Sequence: QRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKRE |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Molecular function
Names & Taxonomy
Protein names
- Recommended namePituitary homeobox 2
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Glires > Rodentia > Myomorpha > Muroidea > Muridae > Murinae > Mus > Mus
Accessions
- Primary accessionP97474
- Secondary accessions
Proteomes
Organism-specific databases
Phenotypes & Variants
Disruption phenotype
Isoform Ptx2c
Knockout embryos exhibit cardiac and laterality defects. Embryos have defects in the aortic arch vessels, such as double-outlet right ventricle and right-sided or double aortic arches. Most have bilateral, left-sided or midline inferior caval veins, right atrial and pulmonary isomerism. None have abnormal ventricular topology, but some have malposition of the heart to the right and the hearts of the remaining embryos are in the midline rather than to the left. In addition, most embryos have ventricular septal defects with associated double-outlet right ventricle. Some embryos show right-sided aortic arches and some have right-sided stomachs or, in one case, a midline stomach. The spleen is absent or small. Unlike mice lacking all Pitx2 isoforms, Pitx2c-specific knockout embryos have no defects in ventral body wall closure.
Features
Showing features for mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Mutagenesis | 90 | Loss of phosphorylation by AKT2. | ||||
Sequence: T → A |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 18 variants from UniProt as well as other sources including ClinVar and dbSNP.
PTM/Processing
Features
Showing features for chain, modified residue.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000049224 | 1-317 | Pituitary homeobox 2 | |||
Sequence: METNCRKLVSACVQLGVQPAAVECLFSKDSEIKKVEFTDSPKSRKESASSKLFPRQHPGANEKDKGQQGKNEDVGAEDPSKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKRERNQQAELCKNGFGPQFNGLMQPYDDMYPGYSYNNWAAKGLTSASLSTKSFPFFNSMNVNPLSSQSMFSPPNSISSMSMSSSMVPSAVTGVPGSSLNSLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYRDTCNSSLASLRLKAKQHSSFGYASVQNPASNLSACQYAVDRPV | ||||||
Modified residue | 90 | Phosphothreonine; by PKB/AKT2 | ||||
Sequence: T |
Post-translational modification
Phosphorylated at Thr-90 by AKT2, but not AKT1. Phosphorylation impairs its association with a CCND1 mRNA-stabilizing complex, thus shortening the half-life of CCND1.
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Expressed in pituitary gland, brain, heart, kidney, eye, lung, testis, tongue, spinal cord and skeletal muscle.
Induction
Expression is activated by CITED2 and TFAP2A and TFAP2C.
Developmental stage
Detected as early as 8.5 dpc (PubMed:9147650).
At 9.5 dpc, detected in ectodermal cells in first branchial arch, ventrolateral dermomyotome of early somites and neural tissues (PubMed:9539779).
In the developing brain, at 9.5-11.5 dpc, expressed in the ventral diencephalon and zona limitans intrathalamica (ZLI), as well as in the lateral plate mesenchyme, mandibular and maxillary epithelium and the vitelline and umbilical vessels (PubMed:8944018, PubMed:9347917).
At 11.5 dpc, also detected in the mesenchyme around the eye, Rathke's pouch, the dental lamina, the limb mesenchyme and the dorsal mesentery (PubMed:8944018).
At 12.5 dpc, detected in the ZLI and in the mammillary area, as well as in Rathke's pouch. At 14.5 dpc, expressed in early ventral lateral geniculate nucleus. At 18.5 dpc, expressed along the anterioposterior axis in the ventral lateral geniculate nucleus (PubMed:9347917).
At 9.5 dpc, detected in ectodermal cells in first branchial arch, ventrolateral dermomyotome of early somites and neural tissues (PubMed:9539779).
In the developing brain, at 9.5-11.5 dpc, expressed in the ventral diencephalon and zona limitans intrathalamica (ZLI), as well as in the lateral plate mesenchyme, mandibular and maxillary epithelium and the vitelline and umbilical vessels (PubMed:8944018, PubMed:9347917).
At 11.5 dpc, also detected in the mesenchyme around the eye, Rathke's pouch, the dental lamina, the limb mesenchyme and the dorsal mesentery (PubMed:8944018).
At 12.5 dpc, detected in the ZLI and in the mammillary area, as well as in Rathke's pouch. At 14.5 dpc, expressed in early ventral lateral geniculate nucleus. At 18.5 dpc, expressed along the anterioposterior axis in the ventral lateral geniculate nucleus (PubMed:9347917).
Isoform Ptx2c
At 8.5 dpc, expressed asymmetrically in the left lateral plate mesoderm and symmetrically in the head mesoderm (PubMed:10585561, PubMed:15475956).
At 13.5 dpc, expressed in the heart, in the left atrium and right ventricle. At this stage, also expressed in the gastro-intestinal tract, in the left side of the stomach, the cecum, the small intestine and the superior mesenteric artery (PubMed:10585561).
In the developing heart, at 15.5 dpc, expressed in the ventral aspects of the outflow tract region and of the right ventricle and also in the left atrium (PubMed:15475956).
At 13.5 dpc, expressed in the heart, in the left atrium and right ventricle. At this stage, also expressed in the gastro-intestinal tract, in the left side of the stomach, the cecum, the small intestine and the superior mesenteric artery (PubMed:10585561).
In the developing heart, at 15.5 dpc, expressed in the ventral aspects of the outflow tract region and of the right ventricle and also in the left atrium (PubMed:15475956).
Gene expression databases
Interaction
Subunit
Interacts with EFEMP2 (By similarity).
Interacts (when unphosphorylated on Thr-90) with ELAVL1/HUR (PubMed:20019746).
Interacts (when unphosphorylated on Thr-90) with ELAVL1/HUR (PubMed:20019746).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P97474 | Nfe2l2 Q60795 | 2 | EBI-1175125, EBI-642563 | |
BINARY | P97474 | Yap1 P46938 | 2 | EBI-1175125, EBI-1211949 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for compositional bias, region, motif.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 35-83 | Basic and acidic residues | ||||
Sequence: VEFTDSPKSRKESASSKLFPRQHPGANEKDKGQQGKNEDVGAEDPSKKK | ||||||
Region | 35-99 | Disordered | ||||
Sequence: VEFTDSPKSRKESASSKLFPRQHPGANEKDKGQQGKNEDVGAEDPSKKKRQRRQRTHFTSQQLQE | ||||||
Motif | 279-292 | OAR | ||||
Sequence: SSLASLRLKAKQHS | ||||||
Motif | 285-289 | Nuclear localization signal | ||||
Sequence: RLKAK |
Sequence similarities
Belongs to the paired homeobox family. Bicoid subfamily.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 5 isoforms produced by Alternative splicing & Alternative initiation.
P97474-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- NamePtx2b
- SynonymsARP1B, Brx1b, Pitx2c
- Length317
- Mass (Da)35,321
- Last updated1999-07-15 v2
- Checksum188315708E6BD95D
P97474-2
- NamePtx2c
- SynonymsARP1c, Brx1a, Munc30
- Differences from canonical
- 1-61: METNCRKLVSACVQLGVQPAAVECLFSKDSEIKKVEFTDSPKSRKESASSKLFPRQHPGAN → MNCMKGPLPLEHRAAGTKLSAASSPFCHHPQALAMASVLAPGQPRSLDSSKHRLEVHTISDTSSPEVA
P97474-3
- NamePtx2a
- SynonymsARP1a
- Differences from canonical
- 16-61: Missing
P97474-4
- NamePitx2Calpha
- Differences from canonical
- 16-28: Missing
P97474-5
- NamePitx2Cbeta
- NoteProduced by alternative initiation at Met-35 of isoform Ptx2C.
- Differences from canonical
- 1-61: METNCRKLVSACVQLGVQPAAVECLFSKDSEIKKVEFTDSPKSRKESASSKLFPRQHPGAN → MASVLAPGQPRSLDSSKHRLEVHTISDTSSPEVA
Computationally mapped potential isoform sequences
There are 3 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for alternative sequence, compositional bias, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_031521 | 1-61 | in isoform Pitx2Cbeta | |||
Sequence: METNCRKLVSACVQLGVQPAAVECLFSKDSEIKKVEFTDSPKSRKESASSKLFPRQHPGAN → MASVLAPGQPRSLDSSKHRLEVHTISDTSSPEVA | ||||||
Alternative sequence | VSP_002262 | 1-61 | in isoform Ptx2c | |||
Sequence: METNCRKLVSACVQLGVQPAAVECLFSKDSEIKKVEFTDSPKSRKESASSKLFPRQHPGAN → MNCMKGPLPLEHRAAGTKLSAASSPFCHHPQALAMASVLAPGQPRSLDSSKHRLEVHTISDTSSPEVA | ||||||
Alternative sequence | VSP_031522 | 16-28 | in isoform Pitx2Calpha | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_002263 | 16-61 | in isoform Ptx2a | |||
Sequence: Missing | ||||||
Compositional bias | 35-83 | Basic and acidic residues | ||||
Sequence: VEFTDSPKSRKESASSKLFPRQHPGANEKDKGQQGKNEDVGAEDPSKKK | ||||||
Sequence conflict | 187 | in Ref. 3; BAA75247/BAA75248 | ||||
Sequence: A → T |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
U80036 EMBL· GenBank· DDBJ | AAB38505.1 EMBL· GenBank· DDBJ | mRNA | ||
U80010 EMBL· GenBank· DDBJ | AAC53119.1 EMBL· GenBank· DDBJ | mRNA | ||
U80011 EMBL· GenBank· DDBJ | AAC53120.1 EMBL· GenBank· DDBJ | mRNA | ||
AB006320 EMBL· GenBank· DDBJ | BAA75247.1 EMBL· GenBank· DDBJ | mRNA | ||
AB006321 EMBL· GenBank· DDBJ | BAA75248.1 EMBL· GenBank· DDBJ | mRNA | ||
AF048723 EMBL· GenBank· DDBJ | AAC40086.1 EMBL· GenBank· DDBJ | mRNA | ||
AF048724 EMBL· GenBank· DDBJ | AAC40087.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ243597 EMBL· GenBank· DDBJ | CAB65259.1 EMBL· GenBank· DDBJ | mRNA | ||
AF201091 EMBL· GenBank· DDBJ | AAF44618.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
U70132 EMBL· GenBank· DDBJ | AAB38864.1 EMBL· GenBank· DDBJ | mRNA |