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

    Gene ID: 5396, updated on 1-Mar-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PRRX1 in Genome Data Viewer
    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_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904453 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:170588042-170589241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:170600473-170600972 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:170607884-170609083 Neighboring gene uncharacterized LOC105371610 Neighboring gene NANOG hESC enhancer GRCh37_chr1:170632177-170632704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:170633905-170634765 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:170637090-170637612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:170637613-170638135 Neighboring gene uncharacterized LOC124904454 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:170803258-170804457 Neighboring gene uncharacterized LOC124904455

    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 Functions

    What's a GeneRIF?

    Phenotypes

    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
    Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
    EBI GWAS 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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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

    Preferred Names
    paired mesoderm homeobox protein 1
    Names
    homeobox protein PHOX1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4960..80250
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006902.5NP_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/TrEMBL
      G3V2N3
      Related
      ENSP00000356734.3, ENST00000367760.7
      Conserved Domains (1) summary
      pfam00046
      Location:99151
      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
      B5BUM7, O60807, P54821
      UniProtKB/TrEMBL
      G3V2N3
      Related
      ENSP00000239461.6, ENST00000239461.11
      Conserved Domains (2) summary
      pfam00046
      Location:99151
      Homeobox; Homeobox domain
      pfam03826
      Location:219235
      OAR; OAR domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      170662768..170739421
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711388.4XP_006711451.1  paired mesoderm homeobox protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006711451.1

      Conserved Domains (2) summary
      pfam03826
      Location:172188
      OAR; OAR domain
      pfam00046
      Location:52104
      Homeobox; Homeobox domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      170018992..170095719
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337099.1XP_054193074.1  paired mesoderm homeobox protein 1 isoform X1