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Phactr1 phosphatase and actin regulator 1 [ Mus musculus (house mouse) ]

Gene ID: 218194, updated on 2-Nov-2024

Summary

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Official Symbol
Phactr1provided by MGI
Official Full Name
phosphatase and actin regulator 1provided by MGI
Primary source
MGI:MGI:2659021
See related
Ensembl:ENSMUSG00000054728 AllianceGenome:MGI:2659021
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Rpel1; 9630030F18Rik
Summary
Enables actin binding activity. Involved in nervous system development; regulation of neuron migration; and stress fiber assembly. Located in cytosol and nucleus. Is expressed in several structures, including central nervous system and neural retina. Human ortholog(s) of this gene implicated in artery disease (multiple) and brain disease (multiple). Orthologous to human PHACTR1 (phosphatase and actin regulator 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in cortex adult (RPKM 18.5), frontal lobe adult (RPKM 16.3) and 9 other tissues See more
Orthologs
human all
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Genomic context

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See Phactr1 in Genome Data Viewer
Location:
13 A4; 13 21.05 cM
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (42833909..43292002)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (42680374..43138526)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene hematological and neurological expressed 1 pseudogene 4 Neighboring gene STARR-seq mESC enhancer starr_34318 Neighboring gene STARR-seq mESC enhancer starr_34319 Neighboring gene ubiquitin-conjugating enzyme E2 variant 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_34320 Neighboring gene STARR-seq mESC enhancer starr_34321 Neighboring gene STARR-seq mESC enhancer starr_34322 Neighboring gene STARR-seq mESC enhancer starr_34324 Neighboring gene STARR-seq mESC enhancer starr_34326 Neighboring gene predicted gene, 52053 Neighboring gene predicted gene 15813 Neighboring gene STARR-positive B cell enhancer ABC_E9398 Neighboring gene TBC1 domain family, member 7 Neighboring gene predicted gene, 40929

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. PHACTR-1 (Phosphatase and Actin Regulator 1) Deficiency in Either Endothelial or Smooth Muscle Cells Does Not Predispose Mice to Nonatherosclerotic Arteriopathies in 3 Transgenic Mice. Rubin S, et al. Arterioscler Thromb Vasc Biol, 2022 May. PMID 35387477
  2. Coronary artery disease associated gene Phactr1 modulates severity of vascular calcification in vitro. Aherrahrou R, et al. Biochem Biophys Res Commun, 2017 Sep 16. PMID 28720499
  3. Genotype and phenotype correlation of PHACTR1-related neurological disorders. Xu Z, et al. J Med Genet, 2024 May 21. PMID 38272663
  4. Endothelial PHACTR1 Promotes Endothelial Activation and Atherosclerosis by Repressing PPARγ Activity Under Disturbed Flow in Mice. Jiang D, et al. Arterioscler Thromb Vasc Biol, 2023 Aug. PMID 37199156, Free PMC Article
  5. PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice. Messerschmidt C, et al. Sci Rep, 2021 Mar 16. PMID 33727568, Free PMC Article

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genotype and phenotype correlation of PHACTR1-related neurological disorders.
    Title: Genotype and phenotype correlation of PHACTR1-related neurological disorders.
  2. Endothelial PHACTR1 Promotes Endothelial Activation and Atherosclerosis by Repressing PPARgamma Activity Under Disturbed Flow in Mice.
    Title: Endothelial PHACTR1 Promotes Endothelial Activation and Atherosclerosis by Repressing PPARγ Activity Under Disturbed Flow in Mice.
  3. PHACTR1, a coronary artery disease risk gene, mediates endothelial dysfunction.
    Title: PHACTR1, a coronary artery disease risk gene, mediates endothelial dysfunction.
  4. PHACTR-1 (Phosphatase and Actin Regulator 1) Deficiency in Either Endothelial or Smooth Muscle Cells Does Not Predispose Mice to Nonatherosclerotic Arteriopathies in 3 Transgenic Mice.
    Title: PHACTR-1 (Phosphatase and Actin Regulator 1) Deficiency in Either Endothelial or Smooth Muscle Cells Does Not Predispose Mice to Nonatherosclerotic Arteriopathies in 3 Transgenic Mice.
  5. PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice.
    Title: PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice.
  6. Deficiency of macrophage PHACTR1 impairs efferocytosis and promotes atherosclerotic plaque necrosis.
    Title: Deficiency of macrophage PHACTR1 impairs efferocytosis and promotes atherosclerotic plaque necrosis.
  7. Genetic deficiency of Phactr1 promotes atherosclerosis development via facilitating M1 macrophage polarization and foam cell formation.
    Title: Genetic deficiency of Phactr1 promotes atherosclerosis development via facilitating M1 macrophage polarization and foam cell formation.
  8. Molecular basis for substrate specificity of the Phactr1/PP1 phosphatase holoenzyme.
    Title: Molecular basis for substrate specificity of the Phactr1/PP1 phosphatase holoenzyme.
  9. that Phactr1 takes part in neuronal functions regulated in a spatiotemporal manner
    Title: Expression analyses of Phactr1 (phosphatase and actin regulator 1) during mouse brain development.
  10. It has been demonstrated that PHACTR1 gene expression increases with the progression of vascular calcification and that regulation of PHACTR1 in smooth muscle cells modulates the severity of vascular calcification.
    Title: Coronary artery disease associated gene Phactr1 modulates severity of vascular calcification in vitro.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables actin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables actin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein phosphatase 1 binding ISO
Inferred from Sequence Orthology
more info
  
enables protein phosphatase inhibitor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in actomyosin structure organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in actomyosin structure organization ISO
Inferred from Sequence Orthology
more info
  
involved_in cell motility IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell motility IEA
Inferred from Electronic Annotation
more info
  
involved_in cell motility ISO
Inferred from Sequence Orthology
more info
  
involved_in cerebral cortex development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in dendrite arborization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of gene expression ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of neuron migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of phosphorylation ISO
Inferred from Sequence Orthology
more info
  
involved_in stress fiber assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in stress fiber assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in stress fiber assembly ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  
located_in synapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
phosphatase and actin regulator 1
Names
RPEL repeat containing 1

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.

mRNA and Protein(s)

  1. NM_001005740.1 → NP_001005740.1  phosphatase and actin regulator 1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).
    Source sequence(s)
    BC061691, CD551063
    Consensus CDS
    CCDS49251.1
    UniProtKB/Swiss-Prot
    Q2M3X8
    Related
    ENSMUSP00000115228.2, ENSMUST00000148891.8
    Conserved Domains (2) summary
    smart00707
    Location:523 → 547
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:133 → 154
    RPEL; RPEL repeat

  2. NM_001005748.2 → NP_001005748.1  phosphatase and actin regulator 1 isoform 3

    See identical proteins and their annotated locations for NP_001005748.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks exons in the 5' coding region, and uses an alternate start codon compared to variant 2. The resulting isoform (3) is shorter and has a distinct N-terminus compared to isoform 2.
    Source sequence(s)
    AC140415, AK166463
    UniProtKB/TrEMBL
    A0A5F8MPI2, Q3TLK1
    Related
    ENSMUSP00000158985.2, ENSMUST00000136576.8
    Conserved Domains (1) summary
    smart00707
    Location:24 → 49
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2

  3. NM_001302635.1 → NP_001289564.1  phosphatase and actin regulator 1 isoform 4

    See identical proteins and their annotated locations for NP_001289564.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region and lacks an exon in the central coding region compared to variant 2. The encoded isoform (4) is shorter and has a distinct N-terminus compared to isoform 2.
    Source sequence(s)
    AC140415, AK047654, AY993932, BC043065, BC061691
    Consensus CDS
    CCDS79181.1
    UniProtKB/Swiss-Prot
    B1B1B5, B1B1B6, B1B1B7, G5E8P7, Q2M3X8, Q80VL9, Q8C873
    Related
    ENSMUSP00000122232.2, ENSMUST00000128646.8
    Conserved Domains (2) summary
    smart00707
    Location:461 → 485
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:140 → 161
    RPEL; RPEL repeat

  4. NM_001302636.1 → NP_001289565.1  phosphatase and actin regulator 1 isoform 5

    See identical proteins and their annotated locations for NP_001289565.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks exons in the 5' coding region, and uses a downstream start codon compared to variant 2. The resulting isoform (5) has a shorter N-terminus compared to isoform 2.
    Source sequence(s)
    AC140415, AK139452, BC043065, BC061691
    Consensus CDS
    CCDS79182.1
    UniProtKB/TrEMBL
    B1B1B8
    Related
    ENSMUSP00000123346.2, ENSMUST00000131942.2
    Conserved Domains (3) summary
    smart00707
    Location:438 → 462
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:48 → 69
    RPEL; RPEL repeat
    cl29414
    Location:399 → 423
    RPEL; RPEL repeat

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    42833909..43292002
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011244395.4 → XP_011242697.1  phosphatase and actin regulator 1 isoform X1

    See identical proteins and their annotated locations for XP_011242697.1

    UniProtKB/Swiss-Prot
    Q2M3X8
    Conserved Domains (2) summary
    smart00707
    Location:530 → 554
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:140 → 161
    RPEL; RPEL repeat

  2. XM_036157988.1 → XP_036013881.1  phosphatase and actin regulator 1 isoform X3

    UniProtKB/Swiss-Prot
    B1B1B5, B1B1B6, B1B1B7, G5E8P7, Q2M3X8, Q80VL9, Q8C873
    Related
    ENSMUSP00000115207.2, ENSMUST00000149235.8
    Conserved Domains (2) summary
    smart00707
    Location:461 → 485
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:140 → 161
    RPEL; RPEL repeat

  3. XM_006516905.5 → XP_006516968.1  phosphatase and actin regulator 1 isoform X1

    See identical proteins and their annotated locations for XP_006516968.1

    UniProtKB/Swiss-Prot
    Q2M3X8
    Related
    ENSMUSP00000105790.4, ENSMUST00000110161.10
    Conserved Domains (2) summary
    smart00707
    Location:530 → 554
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:140 → 161
    RPEL; RPEL repeat

  4. XM_036157990.1 → XP_036013883.1  phosphatase and actin regulator 1 isoform X3

    UniProtKB/Swiss-Prot
    B1B1B5, B1B1B6, B1B1B7, G5E8P7, Q2M3X8, Q80VL9, Q8C873
    Conserved Domains (2) summary
    smart00707
    Location:461 → 485
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:140 → 161
    RPEL; RPEL repeat

  5. XM_006516906.5 → XP_006516969.1  phosphatase and actin regulator 1 isoform X1

    See identical proteins and their annotated locations for XP_006516969.1

    UniProtKB/Swiss-Prot
    Q2M3X8
    Conserved Domains (2) summary
    smart00707
    Location:530 → 554
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:140 → 161
    RPEL; RPEL repeat

  6. XM_036157989.1 → XP_036013882.1  phosphatase and actin regulator 1 isoform X3

    UniProtKB/Swiss-Prot
    B1B1B5, B1B1B6, B1B1B7, G5E8P7, Q2M3X8, Q80VL9, Q8C873
    Conserved Domains (2) summary
    smart00707
    Location:461 → 485
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:140 → 161
    RPEL; RPEL repeat

  7. XM_030247227.2 → XP_030103087.1  phosphatase and actin regulator 1 isoform X6

    Conserved Domains (3) summary
    smart00707
    Location:369 → 393
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:48 → 69
    RPEL; RPEL repeat
    cl29414
    Location:330 → 354
    RPEL; RPEL repeat

  8. XM_006516911.5 → XP_006516974.1  phosphatase and actin regulator 1 isoform X5

    See identical proteins and their annotated locations for XP_006516974.1

    UniProtKB/TrEMBL
    B1B1B8
    Conserved Domains (3) summary
    smart00707
    Location:438 → 462
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:48 → 69
    RPEL; RPEL repeat
    cl29414
    Location:399 → 423
    RPEL; RPEL repeat

  9. XM_030247228.2 → XP_030103088.1  phosphatase and actin regulator 1 isoform X6

    Conserved Domains (3) summary
    smart00707
    Location:369 → 393
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:48 → 69
    RPEL; RPEL repeat
    cl29414
    Location:330 → 354
    RPEL; RPEL repeat

  10. XM_006516907.5 → XP_006516970.1  phosphatase and actin regulator 1 isoform X2

    Conserved Domains (2) summary
    smart00707
    Location:524 → 548
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:134 → 155
    RPEL; RPEL repeat

  11. XM_017315484.3 → XP_017170973.1  phosphatase and actin regulator 1 isoform X4

    Conserved Domains (2) summary
    smart00707
    Location:455 → 479
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:134 → 155
    RPEL; RPEL repeat

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_198419.3: Suppressed sequence

    Description
    NM_198419.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q2M3X8.1 GenPept UniProtKB/Swiss-Prot:Q2M3X8

Gene LinkOut

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