PRRX1
entrez
5396
canonical
uniprot
P54821
canonical
ensembl
ENSG00000116132
resolver
ensp
ENSP00000239461
resolver
ensp
ENSP00000356734
resolver
genesymbol
PRRX1
resolver
genesymbol_syn
PMX1
resolver
hgnc
HGNC:9142
resolver
uniprot
B5BUM7
resolver
uniprot
O60807
resolver
uniprot_entry
PRRX1_HUMAN
resolver
uniprot_sec
B5BUM7
resolver
uniprot_sec
O60807
resolver
amino_acid_sequence
MTSSYGHVLERQPALGGRLDSPGNLDTLQAKKNFSVSHLLDLEEAGDMVAAQADENVGEAGRSLLESPGLTSGSDTPQQDNDQLNSEEKKKRKQRRNRTTFNSSQLQALERVFERTHYPDAFVREDLARRVNLTEARVQVWFQNRRAKFRRNERAMLANKNASLLKSYSGDVTAVEQPIVPRPAPRPTDYLSWGTASPYSAMATYSATCANNSPAQGINMANSIANLRLKAKEYSLQRNQVPTVN
uniprot
proteins
disease_involvement
DISEASE: Agnathia-otocephaly complex (AGOTC) [MIM:202650]: 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. {ECO:0000269|PubMed:21294718}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Strongly expressed in cancer-associated fibroblasts (CAFs) in various cancer types. Its expression correlates with unfavorable clinical outcome. May be essential for the tumorigenicity and metastasis-inducing capacity of CAFs. Can reprogram tumor-suppressive normal fibroblasts into CAFs. {ECO:0000269|PubMed:35589735}.
uniprot
proteins
function
FUNCTION: Master transcription factor of stromal fibroblasts for myofibroblastic lineage progression. Orchestrates the functional drift of fibroblasts into myofibroblastic phenotype via TGF-beta signaling by remodeling a super-enhancer landscape. Through this function, plays an essential role in wound healing process (PubMed:35589735). 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). May play a role in homeostasis and regeneration of bone, white adipose tissue and derm (By similarity). {ECO:0000250|UniProtKB:P63013, ECO:0000269|PubMed:35589735}.; FUNCTION: [Isoform 1]: Transcriptional activator, when transfected in fibroblastic or myoblastic cell lines. This activity may be masked by the C-terminal OAR domain. {ECO:0000250|UniProtKB:P63013}.; FUNCTION: [Isoform 2]: Transcriptional repressor, when transfected in fibroblastic or myoblastic cell lines. {ECO:0000250|UniProtKB:P63013}.
uniprot
proteins
mass_dalton
27296
uniprot
proteins
protein_family
Paired homeobox family
uniprot
proteins
pubmed
11063257
uniprot
proteins
pubmed
1509260
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19054851
uniprot
proteins
pubmed
21294718
uniprot
proteins
pubmed
35589735
uniprot
proteins
sequence_length
245
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P63013}.
uniprot
proteins