Gene: PRRX1

Basic information

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.

Gene expression information

Gene expression in different tissues (GTEx V7)