Human Gene PRRX1 (ENST00000239461.11) from GENCODE V44
Description: Homo sapiens paired related homeobox 1 (PRRX1), transcript variant pmx-1b, mRNA. (from RefSeq NM_022716) RefSeq Summary (NM_022716): The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000239461.11 Gencode Gene: ENSG00000116132.12 Transcript (Including UTRs) Position: hg38 chr1:170,664,131-170,739,421 Size: 75,291 Total Exon Count: 4 Strand: + Coding Region Position: hg38 chr1:170,664,219-170,736,186 Size: 71,968 Coding Exon Count: 4
ID:PRRX1_HUMAN DESCRIPTION: RecName: Full=Paired mesoderm homeobox protein 1; AltName: Full=Homeobox protein PHOX1; AltName: Full=Paired-related homeobox protein 1; Short=PRX-1; FUNCTION: Acts as a transcriptional regulator of muscle creatine kinase (MCK) and so has a role in the establishment of diverse mesodermal muscle types. The protein binds to an A/T-rich element in the muscle creatine enhancer (By similarity). SUBCELLULAR LOCATION: Nucleus. DISEASE: Defects in PRRX1 are the cause of agnathia-otocephaly complex (AGOTC) [MIM:202650]. AGOTC is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal. SIMILARITY: Belongs to the paired homeobox family. SIMILARITY: Contains 1 homeobox DNA-binding domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P54821
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
