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P97474

- PITX2_MOUSE

UniProt

P97474 - PITX2_MOUSE

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Protein
Pituitary homeobox 2
Gene
Pitx2, Arp1, Brx1, Otlx2, Ptx2, Rgs
Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Controls cell proliferation in a tissue-specific manner and is involved in morphogenesis. During embryonic development, exerts a role in the expansion of muscle progenitors. May play a role in the proper localization of asymmetric organs such as the heart and stomach. Isoform Ptx2c is involved in left-right asymmetry the developing embryo.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi85 – 14460Homeobox
Add
BLAST

GO - Molecular functioni

  1. DNA binding Source: MGI
  2. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: Ensembl
  3. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: Ensembl
  4. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  5. RNA polymerase II transcription coactivator activity Source: Ensembl
  6. RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription Source: Ensembl
  7. chromatin DNA binding Source: MGI
  8. chromatin binding Source: MGI
  9. protein binding Source: MGI
  10. sequence-specific DNA binding Source: MGI
  11. sequence-specific DNA binding RNA polymerase II transcription factor activity Source: MGI
  12. sequence-specific DNA binding transcription factor activity Source: MGI

GO - Biological processi

  1. Wnt signaling pathway Source: MGI
  2. anatomical structure morphogenesis Source: MGI
  3. atrial cardiac muscle tissue morphogenesis Source: MGI
  4. atrioventricular valve development Source: MGI
  5. cardiac muscle cell differentiation Source: MGI
  6. cardiac muscle tissue development Source: MGI
  7. cardiac neural crest cell migration involved in outflow tract morphogenesis Source: BHF-UCL
  8. cell proliferation involved in outflow tract morphogenesis Source: BHF-UCL
  9. deltoid tuberosity development Source: BHF-UCL
  10. determination of left/right symmetry Source: BHF-UCL
  11. digestive system development Source: MGI
  12. embryonic camera-type eye development Source: MGI
  13. embryonic digestive tract morphogenesis Source: MGI
  14. embryonic hindlimb morphogenesis Source: MGI
  15. endodermal digestive tract morphogenesis Source: MGI
  16. extraocular skeletal muscle development Source: MGI
  17. female gonad development Source: Ensembl
  18. heart development Source: MGI
  19. hypothalamus cell migration Source: MGI
  20. in utero embryonic development Source: MGI
  21. iris morphogenesis Source: Ensembl
  22. left lung morphogenesis Source: MGI
  23. left/right axis specification Source: BHF-UCL
  24. lung development Source: MGI
  25. male gonad development Source: Ensembl
  26. myoblast fusion Source: MGI
  27. neuron differentiation Source: Ensembl
  28. neuron migration Source: MGI
  29. odontogenesis Source: MGI
  30. odontogenesis of dentin-containing tooth Source: Ensembl
  31. organ morphogenesis Source: MGI
  32. patterning of blood vessels Source: MGI
  33. pituitary gland development Source: MGI
  34. positive regulation of DNA binding Source: MGI
  35. positive regulation of myoblast proliferation Source: MGI
  36. positive regulation of transcription from RNA polymerase II promoter Source: MGI
  37. positive regulation of transcription, DNA-templated Source: MGI
  38. pulmonary myocardium development Source: MGI
  39. pulmonary vein morphogenesis Source: MGI
  40. regulation of cell migration Source: MGI
  41. regulation of cell proliferation Source: MGI
  42. regulation of transcription from RNA polymerase II promoter Source: MGI
  43. regulation of transcription, DNA-templated Source: MGI
  44. response to hormone Source: Ensembl
  45. response to vitamin A Source: Ensembl
  46. skeletal muscle tissue development Source: MGI
  47. spleen development Source: BHF-UCL
  48. subthalamic nucleus development Source: MGI
  49. superior vena cava morphogenesis Source: MGI
  50. transcription from RNA polymerase II promoter Source: GOC
  51. vascular smooth muscle cell differentiation Source: MGI
  52. vasculogenesis Source: MGI
  53. ventricular cardiac muscle cell development Source: MGI
  54. ventricular septum morphogenesis Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Pituitary homeobox 2
Alternative name(s):
ALL1-responsive protein ARP1
BRX1 homeoprotein
Homeobox protein PITX2
Orthodenticle-like homeobox 2
Paired-like homeodomain transcription factor 2
Paired-like homeodomain transcription factor Munc 30
Solurshin
Gene namesi
Name:Pitx2
Synonyms:Arp1, Brx1, Otlx2, Ptx2, Rgs
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 3

Organism-specific databases

MGIiMGI:109340. Pitx2.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: MGI
  2. nucleus Source: MGI
  3. transcription factor complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Disruption phenotypei

Mice embryos lacking isoform Ptx2c show left-right patterning defects and severe developmental abnormalities.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 317317Pituitary homeobox 2
PRO_0000049224Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei90 – 901Phosphothreonine; by PKB/AKT2 By similarity

Post-translational modificationi

Phosphorylation at Thr-90 impairs its association with the CCND1 mRNA-stabilizing complex thus shortening the half-life of CCND1.

Keywords - PTMi

Phosphoprotein

Proteomic databases

PRIDEiP97474.

Expressioni

Tissue specificityi

In day-11 embryos, expressed in the periocular mesenchyme, maxillary and mandibular epithelia, umbilicus, Rathke pouch, vitelline vessels and limb mesenchyme. In adult tissues, expressed in pituitary gland, brain, kidney, eye, lung, testis and tongue.

Developmental stagei

Expressed in the embryonic heart. Expressed in the left lateral plate mesoderm and symmetrically in the head mesoderm at 8.5 dpc. Isoform Ptx2c is expressed in the ventral outflow tract region (OFT), right ventricle (RV) and in the left atrium of the heart.1 Publication

Gene expression databases

ArrayExpressiP97474.
BgeeiP97474.
CleanExiMM_PITX2.
GenevestigatoriP97474.

Interactioni

Protein-protein interaction databases

BioGridi202187. 3 interactions.
IntActiP97474. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliP97474.
SMRiP97474. Positions 14-144.

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi279 – 29214OAR
Add
BLAST
Motifi285 – 2895Nuclear localization signal Reviewed prediction

Sequence similaritiesi

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG249113.
GeneTreeiENSGT00740000115425.
HOVERGENiHBG068770.
KOiK04686.
OMAiRINHSAR.
PhylomeDBiP97474.
TreeFamiTF351940.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR016233. Homeobox_Pitx/unc30.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
PIRSFiPIRSF000563. Homeobox_protein_Pitx/Unc30. 1 hit.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing and alternative initiation. Align

Isoform Ptx2B (identifier: P97474-1) [UniParc]FASTAAdd to Basket

Also known as: ARP1B, BRX1B

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.

« Hide

METNCRKLVS ACVQLGVQPA AVECLFSKDS EIKKVEFTDS PKSRKESASS    50
KLFPRQHPGA NEKDKGQQGK NEDVGAEDPS KKKRQRRQRT HFTSQQLQEL 100
EATFQRNRYP DMSTREEIAV WTNLTEARVR VWFKNRRAKW RKRERNQQAE 150
LCKNGFGPQF NGLMQPYDDM YPGYSYNNWA AKGLTSASLS TKSFPFFNSM 200
NVNPLSSQSM FSPPNSISSM SMSSSMVPSA VTGVPGSSLN SLNNLNNLSS 250
PSLNSAVPTP ACPYAPPTPP YVYRDTCNSS LASLRLKAKQ HSSFGYASVQ 300
NPASNLSACQ YAVDRPV 317
Length:317
Mass (Da):35,321
Last modified:July 15, 1999 - v2
Checksum:i188315708E6BD95D
GO
Isoform Ptx2C (identifier: P97474-2) [UniParc]FASTAAdd to Basket

Also known as: ARP1C, BRX1A

The sequence of this isoform differs from the canonical sequence as follows:
     1-61: METNCRKLVS...LFPRQHPGAN → MNCMKGPLPL...ISDTSSPEVA

Show »
Length:324
Mass (Da):35,770
Checksum:i3D574CE3136A2159
GO
Isoform Ptx2A (identifier: P97474-3) [UniParc]FASTAAdd to Basket

Also known as: ARP1A

The sequence of this isoform differs from the canonical sequence as follows:
     16-61: Missing.

Show »
Length:271
Mass (Da):30,306
Checksum:iF1D2ADA39B03FF6C
GO
Isoform Pitx2Calpha (identifier: P97474-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     16-28: Missing.

Show »
Length:304
Mass (Da):33,990
Checksum:iDFEA0CDF492CF8B4
GO
Isoform Pitx2Cbeta (identifier: P97474-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-61: METNCRKLVS...LFPRQHPGAN → MASVLAPGQPRSLDSSKHRLEVHTISDTSSPEVA

Note: Produced by alternative initiation at Met-35 of isoform Ptx2C.

Show »
Length:290
Mass (Da):32,215
Checksum:i997DC30E88513A48
GO

Sequence cautioni

The sequence AAF44618.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6161METNC…HPGAN → MASVLAPGQPRSLDSSKHRL EVHTISDTSSPEVA in isoform Pitx2Cbeta.
VSP_031521Add
BLAST
Alternative sequencei1 – 6161METNC…HPGAN → MNCMKGPLPLEHRAAGTKLS AASSPFCHHPQALAMASVLA PGQPRSLDSSKHRLEVHTIS DTSSPEVA in isoform Ptx2C.
VSP_002262Add
BLAST
Alternative sequencei16 – 6146Missing in isoform Ptx2A.
VSP_002263Add
BLAST
Alternative sequencei16 – 2813Missing in isoform Pitx2Calpha.
VSP_031522Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti187 – 1871A → T in BAA75247. 1 Publication
Sequence conflicti187 – 1871A → T in BAA75248. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U80036 mRNA. Translation: AAB38505.1.
U80010 mRNA. Translation: AAC53119.1.
U80011 mRNA. Translation: AAC53120.1.
AB006320 mRNA. Translation: BAA75247.1.
AB006321 mRNA. Translation: BAA75248.1.
AF048723 mRNA. Translation: AAC40086.1.
AF048724 mRNA. Translation: AAC40087.1.
AJ243597 mRNA. Translation: CAB65259.1.
AF201091 mRNA. Translation: AAF44618.1. Different initiation.
U70132 mRNA. Translation: AAB38864.1.
CCDSiCCDS17830.1. [P97474-1]
CCDS38630.1. [P97474-3]
CCDS38631.1. [P97474-2]
CCDS71316.1. [P97474-4]
RefSeqiNP_001035967.1. NM_001042502.2. [P97474-2]
NP_001035969.1. NM_001042504.2. [P97474-3]
NP_035228.2. NM_011098.4. [P97474-1]
XP_006501194.1. XM_006501131.1. [P97474-1]
XP_006501195.1. XM_006501132.1. [P97474-3]
XP_006501196.1. XM_006501133.1. [P97474-3]
UniGeneiMm.246804.

Genome annotation databases

EnsembliENSMUST00000042587; ENSMUSP00000047359; ENSMUSG00000028023. [P97474-2]
ENSMUST00000106382; ENSMUSP00000101990; ENSMUSG00000028023. [P97474-3]
ENSMUST00000172645; ENSMUSP00000134692; ENSMUSG00000028023. [P97474-4]
ENSMUST00000174661; ENSMUSP00000133756; ENSMUSG00000028023. [P97474-1]
GeneIDi18741.
KEGGimmu:18741.
UCSCiuc008rhu.1. mouse. [P97474-1]
uc008rhv.1. mouse. [P97474-3]

Keywords - Coding sequence diversityi

Alternative initiation, Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U80036 mRNA. Translation: AAB38505.1 .
U80010 mRNA. Translation: AAC53119.1 .
U80011 mRNA. Translation: AAC53120.1 .
AB006320 mRNA. Translation: BAA75247.1 .
AB006321 mRNA. Translation: BAA75248.1 .
AF048723 mRNA. Translation: AAC40086.1 .
AF048724 mRNA. Translation: AAC40087.1 .
AJ243597 mRNA. Translation: CAB65259.1 .
AF201091 mRNA. Translation: AAF44618.1 . Different initiation.
U70132 mRNA. Translation: AAB38864.1 .
CCDSi CCDS17830.1. [P97474-1 ]
CCDS38630.1. [P97474-3 ]
CCDS38631.1. [P97474-2 ]
CCDS71316.1. [P97474-4 ]
RefSeqi NP_001035967.1. NM_001042502.2. [P97474-2 ]
NP_001035969.1. NM_001042504.2. [P97474-3 ]
NP_035228.2. NM_011098.4. [P97474-1 ]
XP_006501194.1. XM_006501131.1. [P97474-1 ]
XP_006501195.1. XM_006501132.1. [P97474-3 ]
XP_006501196.1. XM_006501133.1. [P97474-3 ]
UniGenei Mm.246804.

3D structure databases

ProteinModelPortali P97474.
SMRi P97474. Positions 14-144.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 202187. 3 interactions.
IntActi P97474. 1 interaction.

Proteomic databases

PRIDEi P97474.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000042587 ; ENSMUSP00000047359 ; ENSMUSG00000028023 . [P97474-2 ]
ENSMUST00000106382 ; ENSMUSP00000101990 ; ENSMUSG00000028023 . [P97474-3 ]
ENSMUST00000172645 ; ENSMUSP00000134692 ; ENSMUSG00000028023 . [P97474-4 ]
ENSMUST00000174661 ; ENSMUSP00000133756 ; ENSMUSG00000028023 . [P97474-1 ]
GeneIDi 18741.
KEGGi mmu:18741.
UCSCi uc008rhu.1. mouse. [P97474-1 ]
uc008rhv.1. mouse. [P97474-3 ]

Organism-specific databases

CTDi 5308.
MGIi MGI:109340. Pitx2.

Phylogenomic databases

eggNOGi NOG249113.
GeneTreei ENSGT00740000115425.
HOVERGENi HBG068770.
KOi K04686.
OMAi RINHSAR.
PhylomeDBi P97474.
TreeFami TF351940.

Miscellaneous databases

NextBioi 294885.
PROi P97474.
SOURCEi Search...

Gene expression databases

ArrayExpressi P97474.
Bgeei P97474.
CleanExi MM_PITX2.
Genevestigatori P97474.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR016233. Homeobox_Pitx/unc30.
IPR009057. Homeodomain-like.
IPR003654. OAR_dom.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view ]
PIRSFi PIRSF000563. Homeobox_protein_Pitx/Unc30. 1 hit.
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. Mucchielli M.L., Martinez S., Pattyn A., Goridis C., Brunet J.-F.
    Submitted (JAN-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM PTX2A).
  2. "Pituitary homeobox 2, a novel member of the bicoid-related family of homeobox genes, is a potential regulator of anterior structure formation."
    Gage P.J., Camper S.A.
    Hum. Mol. Genet. 6:457-464(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PTX2A AND PTX2B).
    Tissue: Pituitary.
  3. "Expression patterns of Brx1 (Rieg gene), Sonic hedgehog, Nkx2.2, Dlx1 and Arx during zona limitans intrathalamica and embryonic ventral lateral geniculate nuclear formation."
    Kitamura K., Miura H., Yanazawa M., Miyashita T., Kato K.
    Mech. Dev. 67:83-96(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PTX2B AND PTX2C).
  4. "Identification and characterization of the ARP1 gene, a target for the human acute leukemia ALL1 gene."
    Arakawa H., Nakamura T., Zhadanov A.B., Fidanza Y., Yano T., Bullrich F., Shimizu M., Blechman J., Mazo A., Canaani E., Croce C.M.
    Proc. Natl. Acad. Sci. U.S.A. 95:4573-4578(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PTX2A AND PTX2C).
  5. "Pitx2 isoforms: involvement of Pitx2c but not Pitx2a or Pitx2b in vertebrate left-right asymmetry."
    Schweickert A., Campione M., Steinbeisser H., Blum M.
    Mech. Dev. 90:41-51(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL NUCLEOTIDE SEQUENCE (ISOFORM PTX2C).
  6. "Cloning and expression of Munc 30: a member of the paired-like homeodomain gene family."
    Nicholson L.F.B., Ma L., Goulding M.
    Cell Biol. Int. 25:351-365(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL NUCLEOTIDE SEQUENCE (ISOFORM PTX2C).
  7. "Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome."
    Semina E.V., Reiter R., Leysens N.J., Alward W.L.M., Small K.W., Datson N.A., Siegle-Bartelt J., Bierke-Nelson D., Bitoun P., Zabel B.U., Carey J.C., Murray J.C.
    Nat. Genet. 14:392-399(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 63-317.
    Tissue: Embryonic carcinoma.
  8. "Novel forms of paired-like homeodomain transcription factor 2 (PITX2): generation by alternative translation initiation and mRNA splicing."
    Lamba P., Hjalt T.A., Bernard D.J.
    Unpublished observations (JAN-2008)
    Cited for: ALTERNATIVE SPLICING (ISOFORM PITX2CALPHA) AND ALTERNATIVE INITIATION (ISOFORM PITX2CBETA).
  9. Cited for: DISRUPTION PHENOTYPE, DEVELOPMENTAL STAGE.
  10. "Akt2-mediated phosphorylation of Pitx2 controls Ccnd1 mRNA decay during muscle cell differentiation."
    Gherzi R., Trabucchi M., Ponassi M., Gallouzi I.E., Rosenfeld M.G., Briata P.
    Cell Death Differ. 17:975-983(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT THR-90, FUNCTION.

Entry informationi

Entry nameiPITX2_MOUSE
AccessioniPrimary (citable) accession number: P97474
Secondary accession number(s): O08646
, O70336, P97933, Q9JLA0, Q9QXB8, Q9R1V9, Q9Z141
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 15, 1999
Last modified: July 9, 2014
This is version 135 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi