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Protein Page:
PITX1 (human)

Overview
PITX1 May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of hindlimb. Defects in PITX1 are a cause of congenital clubfoot (CCF); also known as talipes equinovarus (TEV). Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e. inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities. Clubfoot may occur in isolation or as part of a syndrome. Clubfoot appears to be a multifactorial trait. Belongs to the paired homeobox family. Bicoid subfamily. Note: This description may include information from UniProtKB.
Protein type: DNA binding protein
Cellular Component: transcription factor complex; cytoplasm; nucleolus; nucleus
Molecular Function: sequence-specific DNA binding; transcription factor activity
Biological Process: myoblast cell fate commitment; anatomical structure morphogenesis; transcription, DNA-dependent; pituitary gland development; cartilage development; branchiomeric skeletal muscle development; positive regulation of transcription from RNA polymerase II promoter; embryonic hindlimb morphogenesis; skeletal development
Reference #:  P78337 (UniProtKB)
Alt. Names/Synonyms: BFT; CCF; hindlimb expressed homeobox protein backfoot; Hindlimb-expressed homeobox protein backfoot; Homeobox protein PITX1; paired-like homeodomain 1; Paired-like homeodomain transcription factor 1; pituitary homeo box 1; Pituitary homeobox 1; pituitary otx-related factor; PITX1; POTX; PTX1
Gene Symbols: PITX1
Molecular weight: 34,128 Da
Basal Isoelectric point: 9.13  Predict pI for various phosphorylation states
Select Structure to View Below

PITX1

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 3 S46-p PREPLENsAsEssDt
0 2 S48-p EPLENsAsEssDtEL
0 1 S50-p LENsAsEssDtELPE
0 1 S51-p ENsAsEssDtELPEK
0 1 T53-p sAsEssDtELPEKER
0 1 S70-p EPKGPEDsGAGGTGC
0 2 S314-p LNACQYNs_______
  mouse

 
S46 PREPLENSASESSDA
S48 EPLENSASESSDADL
S50 LENSASESSDADLPD
S51 ENSASESSDADLPDK
A53 SASESSDADLPDKER
G70 EAKGPEDGGAGSAGC
S315 LNACQYNS_______
  rat

 
S46 PREPLENSASESSDA
S48 EPLENSASESSDADL
S50 LENSASESSDADLPD
S51 ENSASESSDADLPDK
A53 SASESSDADLPDKER
G70 EAKVPEDGGAGSAGC
S315 LNACQYNS_______
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