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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Agnathia-otocephaly complex Pathogenic; Likely pathogenic rs387906667, rs1571354325, rs398122375, rs1655023196 RCV000022701
RCV000022702
RCV000043529
RCV000043530
RCV001261984
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 29424489
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Agnathia-holoprosencephaly-situs inversus syndrome Agnathia-Holoprosencephaly-Situs Inversus Syndrome Orphanet
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 30705403
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 19205907
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 19205907
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation CTD_human_DG 22544366
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial Fibrillation BEFREE 24239840, 25391453
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial fibrillation Pubtator 24239840, 25953654, 29545482, 34845933 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial Fibrillation GWASCAT_DG 28416818, 29892015
★★☆☆☆
Found in Text Mining + Unknown/Other Associations