Gene Gene information from NCBI Gene database.
Entrez ID 5396
Gene name Paired related homeobox 1
Gene symbol PRRX1
Synonyms (NCBI Gene)
AGOTCPHOX1PMX1PRX-1PRX1
Chromosome 1
Chromosome location 1q24.2
Summary 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 r
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs387906667 T>C Pathogenic Coding sequence variant, missense variant
rs398122375 A>-,AAAAA Pathogenic Coding sequence variant, frameshift variant
rs1571354325 G>C Pathogenic Coding sequence variant, 3 prime UTR variant, missense variant
miRNA miRNA information provided by mirtarbase database.
354
miRTarBase ID miRNA Experiments Reference
MIRT022167 hsa-miR-124-3p Microarray 18668037
MIRT022167 hsa-miR-124-3p qRT-PCRLuciferase reporter assayWestern blot 24705396
MIRT022167 hsa-miR-124-3p qRT-PCRLuciferase reporter assayWestern blot 24705396
MIRT022167 hsa-miR-124-3p qRT-PCRLuciferase reporter assayWestern blot 24705396
MIRT022167 hsa-miR-124-3p qRT-PCRLuciferase reporter assayWestern blot 24705396
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SRF Unknown 18604245
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 1509260
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
167420 9142 ENSG00000116132
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P54821
Protein name Paired mesoderm homeobox protein 1 (Homeobox protein PHOX1) (Paired-related homeobox protein 1) (PRX-1)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 95 151 Homeodomain Domain
PF03826 OAR 219 236 OAR motif Motif
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Widely expressed in embryonic and adult tissues, with highest levels in skeletal muscle. Isoform 1 is either expressed at similar or higher levels compared to isoform 2 in all embryonic tissues but skeletal muscle and hear
Sequence
MTSSYGHVLERQPALGGRLDSPGNLDTLQAKKNFSVSHLLDLEEAGDMVAAQADENVGEA
GRSLLESPGLTSGSDTPQQDNDQLNSEEKKKRKQRRNRTTFNSSQLQALERVFERTHYPD
AFVREDLARRVNLTEARVQVWFQNRRAKFRR
NERAMLANKNASLLKSYSGDVTAVEQPIV
PRPAPRPTDYLSWGTASPYSAMATYSATCANNSPAQGINMANSIANLRLKAKEYSLQRNQ
VPTVN
Sequence length 245
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
14
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Agnathia-otocephaly complex Pathogenic; Likely pathogenic rs387906667, rs1571354325, rs398122375, rs1655023196 RCV000022701
RCV000022702
RCV000043529
RCV000043530
RCV001261984
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
PRRX1-related disorder Uncertain significance; Likely benign; Benign rs771291245, rs750047066, rs151333816, rs146552721, rs138970767, rs148572157, rs185136214 RCV003399767
RCV003981692
RCV003906932
RCV003929457
RCV003957402
RCV003969714
RCV003950439
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atrial Fibrillation Associate 24239840, 25953654, 29545482, 34845933
Breast Neoplasms Associate 23807160, 32945446
Carcinogenesis Associate 38308202
Carcinoma Adenoid Cystic Associate 29424489, 35032368
Carcinoma Hepatocellular Stimulate 34496784
Carcinoma Hepatocellular Associate 36968142
Carcinoma Non Small Cell Lung Associate 33316778, 33530259
Carcinoma Renal Cell Associate 31490389
Colorectal Neoplasms Associate 23807160, 24705396, 26617763, 34286520, 36968142
Diabetic Nephropathies Associate 30132841