PRRX1 paired related homeobox 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRRX1provided by HGNC
Official Full Name: paired related homeobox 1provided by HGNC
Primary source: HGNC:HGNC:9142
See related: Ensembl:ENSG00000116132 MIM:167420; AllianceGenome:HGNC:9142
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PMX1; PRX1; AGOTC; PHOX1; PRX-1
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 required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns. [provided by RefSeq, Jul 2008]
Expression: Broad expression in endometrium (RPKM 34.6), fat (RPKM 27.9) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q24.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (170662768..170739421)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (170018992..170095719)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (170633272..170708562)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Title: Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
A PRRX1 Signature Identifies TIM-3 and VISTA as Potential Immune Checkpoint Targets in a Subgroup of Microsatellite Stable Colorectal Cancer Liver Metastases.
Title: A PRRX1 Signature Identifies TIM-3 and VISTA as Potential Immune Checkpoint Targets in a Subgroup of Microsatellite Stable Colorectal Cancer Liver Metastases.
Exosomal circPRRX1 functions as a ceRNA for miR-596 to promote the proliferation, migration, invasion, and reduce radiation sensitivity of gastric cancer cells via the upregulation of NF-kappaB activating protein.
Title: Exosomal circPRRX1 functions as a ceRNA for miR-596 to promote the proliferation, migration, invasion, and reduce radiation sensitivity of gastric cancer cells via the upregulation of NF-κB activating protein.
Expression and clinical significance of paired- related homeobox 1 and Smad2 in gastric cancer.
Title: Expression and clinical significance of paired- related homeobox 1 and Smad2 in gastric cancer.
PRRX1 Is a Novel Prognostic Biomarker and Facilitates Tumor Progression Through Epithelial-Mesenchymal Transition in Uveal Melanoma.
Title: PRRX1 Is a Novel Prognostic Biomarker and Facilitates Tumor Progression Through Epithelial-Mesenchymal Transition in Uveal Melanoma.
Paired related homeobox 1 attenuates autophagy via acetyl-CoA carboxylase 1-regulated fatty acid metabolism in salivary adenoid cystic carcinoma.
Title: Paired related homeobox 1 attenuates autophagy via acetyl-CoA carboxylase 1-regulated fatty acid metabolism in salivary adenoid cystic carcinoma.
PRRX1 induced by BMP signaling decreases tumorigenesis by epigenetically regulating glioma-initiating cell properties via DNA methyltransferase 3A.
Title: PRRX1 induced by BMP signaling decreases tumorigenesis by epigenetically regulating glioma-initiating cell properties via DNA methyltransferase 3A.
PRRX1 Loss-of-Function Mutations Underlying Familial Atrial Fibrillation.
Title: PRRX1 Loss-of-Function Mutations Underlying Familial Atrial Fibrillation.
PRRX1-NCOA1-rearranged fibroblastic tumour: a clinicopathological, immunohistochemical and molecular genetic study of six cases of a potentially under-recognised, distinctive mesenchymal tumour.
Title: PRRX1-NCOA1-rearranged fibroblastic tumour: a clinicopathological, immunohistochemical and molecular genetic study of six cases of a potentially under-recognised, distinctive mesenchymal tumour.
Transcription factor paired related homeobox 1 (PRRX1) activates matrix metalloproteinases (MMP)13, which promotes the dextran sulfate sodium-induced inflammation and barrier dysfunction of NCM460 cells.
Title: Transcription factor paired related homeobox 1 (PRRX1) activates matrix metalloproteinases (MMP)13, which promotes the dextran sulfate sodium-induced inflammation and barrier dysfunction of NCM460 cells.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Agnathia-otocephaly complex MedGen: C0265242 OMIM: 202650 GeneReviews: Holoprosencephaly Overview	Compare labs

EBI GWAS Catalog

Description
Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies six new susceptibility loci for atrial fibrillation. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Microarray analysis indicates HIV-1 Tat downregulates the expression of many proteins, including PHOX1, in immature dendritic cells, an effect that likely facilitates the expansion of HIV-1 infection	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PRRX1_2266 (e-PCR)
- UniSTS:280930

NoName (e-PCR)
- UniSTS:482178

G15917 (e-PCR)
- UniSTS:21147

SHGC-57664 (e-PCR)
- UniSTS:73372

Prrx1 (e-PCR), detects polymorphism
- UniSTS:525268

SHGC-75888 (e-PCR)
- UniSTS:21972

G31141 (e-PCR)
- UniSTS:18405

SHGC-75887 (e-PCR)
- UniSTS:6138

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables HMG box domain binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II general transcription initiation factor activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in artery morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cartilage development	IEA Inferred from Electronic Annotation more info
involved_in embryonic cranial skeleton morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic limb morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in inner ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in mesenchymal cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in middle ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in neuron fate determination	IEA Inferred from Electronic Annotation more info
involved_in neuronal stem cell population maintenance	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mesenchymal cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of smoothened signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of neuron projection regeneration	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in roof of mouth development	IEA Inferred from Electronic Annotation more info
involved_in smoothened signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in stem cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: paired mesoderm homeobox protein 1

Names: homeobox protein PHOX1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_031856.2 RefSeqGene

Range

4960..80250

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006902.5 → NP_008833.1 paired mesoderm homeobox protein 1 isoform pmx-1a

See identical proteins and their annotated locations for NP_008833.1

Status: REVIEWED

Description

Transcript Variant: This variant (pmx-1a) includes an alternate exon in the 3' coding region, compared to variant pmx-1b. The resulting protein (pmx-1a) has a distinct C-terminus, compared to isoform pmx-1b.

Source sequence(s)

AA452918, AA758879, BC074993, KF455066, Z97200

Consensus CDS

CCDS1291.1

Related

ENSP00000356734.3, ENST00000367760.7

Conserved Domains (1) summary

pfam00046
Location:99 → 151

Homeobox; Homeobox domain
NM_022716.4 → NP_073207.1 paired mesoderm homeobox protein 1 isoform pmx-1b

See identical proteins and their annotated locations for NP_073207.1

Status: REVIEWED

Description

Transcript Variant: This variant (pmx-1b) encodes the longer isoform (pmx-1b).

Source sequence(s)

AV750422, BC074993, KF455066, Z97200

Consensus CDS

CCDS1290.1

UniProtKB/Swiss-Prot

B5BUM7, O60807, P54821

Related

ENSP00000239461.6, ENST00000239461.11

Conserved Domains (2) summary

pfam00046
Location:99 → 151

Homeobox; Homeobox domain

pfam03826
Location:219 → 235

OAR; OAR domain