Tag | Content |
---|---|
Uniprot ID | P54821; B5BUM7; O60807; |
Entrez ID | 5396 |
Genbank protein ID | AAH74993.1; BAG70277.1; AAA60085.1; |
Genbank nucleotide ID | NM_006902.4; NM_022716.3; |
Ensembl protein ID | ENSP00000356734; ENSP00000239461; |
Ensembl nucleotide ID | ENSG00000116132 |
Gene name | Paired mesoderm homeobox protein 1 |
Gene symbol | PRRX1 |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | |
Developmental stage | |
Data sources | Homology search |
Reference | |
Functional description | 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). |
Sequence | MTSSYGHVLE RQPALGGRLD SPGNLDTLQA KKNFSVSHLL DLEEAGDMVA AQADENVGEA 60 GRSLLESPGL TSGSDTPQQD NDQLNSEEKK KRKQRRNRTT FNSSQLQALE RVFERTHYPD 120 AFVREDLARR VNLTEARVQV WFQNRRAKFR RNERAMLANK NASLLKSYSG DVTAVEQPIV 180 PRPAPRPTDY LSWGTASPYS AMATYSATCA NNSPAQGINM ANSIANLRLK AKEYSLQRNQ 240 VPTVN 245 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.