PRRX1 paired related homeobox 1 [Homo sapiens] - Gene

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Summary

Official Symbol: PRRX1provided by HGNC
Official Full Name: paired related homeobox 1provided by HGNC
Primary source: HGNC:9142
See related: Ensembl:ENSG00000116132; HPRD:01337; MIM:167420; Vega:OTTHUMG00000035231
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
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]

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Genomic context

Location :: 1q24

Sequence :: Chromosome: 1; NC_000001.10 (170633313..170708541)

See PRRX1 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Mutation analysis was performed after sequencing the entire coding regions of OTX2 and PRRX1 genes isolated from the proband and his parents. After thorough analysis, no DNA variations were detected.
Title: Agnathia-otocephaly complex: a case report and examination of the OTX2 and PRRX1 genes.
HOXA7, PIXT1 and PRRX1 homeobox genes have different patterns of expression in oral squamous cell carcinomas depending on its histological features.
Title: In situ hybridization detection of homeobox genes reveals distinct expression patterns in oral squamous cell carcinomas.
Novel evidence of the contributory role of the NUP98 sequence in conferring leukemogenic properties on a partner gene.
Title: Leukemogenic properties of NUP98-PMX1 are linked to NUP98 and homeodomain sequence functions but not to binding properties of PMX1 to serum response factor.
Observational study of gene-disease association. (HuGE Navigator)
Title: Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
identification of the two Prx1 target genes, which play a pivotal role in development of liver fibrosis, is a novel finding for liver pathophysiology
Title: Homeobox gene Prx1 is expressed in activated hepatic stellate cells and transactivates collagen alpha1(I) promoter.
The human prx1 promoter was cloned and nuclear factor (erythroid-derived 2)-related factor 2 (Nrf2) was identified as a key transcription factor.
Title: Human prx1 gene is a target of Nrf2 and is up-regulated by hypoxia/reoxygenation: implication to tumor biology.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

HIV-1 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 Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
P54821	P78347	GTF2I	HPRD	PubMed
P54821	Q9ULX9	MAFF	HPRD	PubMed
P54821	O15525	MAFG	HPRD	PubMed
P54821	P56693	SOX10	HPRD	PubMed
P54821	P11831	SRF	HPRD	PubMed
BioGRID:111405	BioGRID:109224	GTF2I	BioGRID	PubMed	Co-purification

Function	Evidence Code	Pubs
sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding transcription factor activity	IEA Inferred from Electronic Annotation more info
transcription coactivator activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
multicellular organismal development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: paired mesoderm homeobox protein 1

Names: paired mesoderm homeobox protein 1; PRX-1; homeobox protein PHOX1; paired mesoderm homeo box 1; paired-related homeobox protein 1; paired mesoderm homeobox 1 isoform pmx-1b

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NCBI Reference Sequences (RefSeq)

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_031856.1 RefSeqGene

Range

5001..80229

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006902.3 → NP_008833.1 paired mesoderm homeobox protein 1 isoform pmx-1a

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, Z97200

Consensus CDS

CCDS1291.1

UniProtKB/Swiss-Prot

P54821

Related

ENSP00000356734, OTTHUMP00000033166, ENST00000367760, OTTHUMT00000085235

Conserved Domains (1) summary

cd00086
Location:99 – 153
Blast Score: 186

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
NM_022716.2 → NP_073207.1 paired mesoderm homeobox protein 1 isoform pmx-1b

Status: REVIEWED

Description

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

Source sequence(s)

AV750422, BC074993, Z97200

Consensus CDS

CCDS1290.1

UniProtKB/Swiss-Prot

P54821

Related

ENSP00000239461, OTTHUMP00000033167, ENST00000239461, OTTHUMT00000085236

Conserved Domains (2) summary

cd00086
Location:99 – 153
Blast Score: 185

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam03826
Location:219 – 236
Blast Score: 83

OAR; OAR domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

170633313..170708541

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

141857178..141932397

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	CH471067.1	EAW90882.1
		EAW90883.1
genomic	Z97200.1	None
mRNA	AA452918.1	None
mRNA	AA758879.1	None
mRNA	AB451463.1	BAG70277.1
mRNA	AK225968.1	None
mRNA	AV750422.1	None
mRNA	BC074993.2	AAH74993.1
mRNA	BI039001.1	None
other-genetic	EU446648.1	ABZ92177.1