Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5396
Gene name Gene Name - the full gene name approved by the HGNC.
Paired related homeobox 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PRRX1
Synonyms (NCBI Gene) Gene synonyms aliases
AGOTC, PHOX1, PMX1, PRX-1, PRX1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AGOTC
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT022167 hsa-miR-124-3p Microarray 18668037
MIRT022167 hsa-miR-124-3p qRT-PCR, Luciferase reporter assay, Western blot 24705396
MIRT022167 hsa-miR-124-3p qRT-PCR, Luciferase reporter assay, Western blot 24705396
MIRT022167 hsa-miR-124-3p qRT-PCR, Luciferase reporter assay, Western blot 24705396
MIRT022167 hsa-miR-124-3p qRT-PCR, Luciferase reporter assay, Western blot 24705396
Transcription factors
Transcription factor Regulation Reference
SRF Unknown 18604245
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 1509260
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
167420 9142 ENSG00000116132
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
22544366, 29892015, 28416818
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
28736931
Hearing loss Conductive hearing loss rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Unknown
Disease term Disease name Evidence References Source
Paroxysmal atrial fibrillation Paroxysmal atrial fibrillation 22544366 ClinVar
Otocephaly agnathia-otocephaly complex GenCC
Multiple Congenital Anomalies multiple congenital anomalies/dysmorphic syndrome-intellectual disability GenCC
Craniosynostosis craniosynostosis GenCC
Associations from Text Mining
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