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

Gene ID: 5396, updated on 15-Apr-2019

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
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

Genomic context

See PRRX1 in Genome Data Viewer
Location:
1q24.2
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (170662728..170739400)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (170633313..170708541)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene GORAB antisense RNA 1 Neighboring gene golgin, RAB6 interacting Neighboring gene uncharacterized LOC105371610 Neighboring gene maestro heat like repeat family member 9 Neighboring gene alkylated DNA repair protein alkB homolog 8-like

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Dysgnathia complex
MedGen: C0265242 OMIM: 202650 GeneReviews: Holoprosencephaly Overview
Compare labs

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
paired mesoderm homeobox protein 1
Names
homeobox protein PHOX1
paired mesoderm homeobox 1 isoform pmx-1b

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

  1. NG_031856.2 RefSeqGene

    Range
    5001..80229
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006902.4NP_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
    UniProtKB/Swiss-Prot
    P54821
    Related
    ENSP00000356734.3, ENST00000367760.7
    Conserved Domains (1) summary
    pfam00046
    Location:99150
    Homeobox; Homeobox domain
  2. NM_022716.4NP_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
    P54821
    Related
    ENSP00000239461.6, ENST00000239461.11
    Conserved Domains (2) summary
    pfam00046
    Location:99150
    Homeobox; Homeobox domain
    pfam03826
    Location:219235
    OAR; OAR domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    170662728..170739400
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006711388.3XP_006711451.1  paired mesoderm homeobox protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006711451.1

    Conserved Domains (2) summary
    pfam00046
    Location:52103
    Homeobox; Homeobox domain
    pfam03826
    Location:172188
    OAR; OAR domain
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