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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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    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.

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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