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

    Gene ID: 218194, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Biased expression in cortex adult (RPKM 18.5), frontal lobe adult (RPKM 16.3) and 9 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    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.

    mRNA and Protein(s)

    1. NM_001005740.1NP_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:523547
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:133154
      RPEL; RPEL repeat
    2. NM_001005748.2NP_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:2449
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    3. NM_001302635.1NP_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:461485
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:140161
      RPEL; RPEL repeat
    4. NM_001302636.1NP_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:438462
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:4869
      RPEL; RPEL repeat
      cl29414
      Location:399423
      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_011244395.4XP_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:530554
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:140161
      RPEL; RPEL repeat
    2. XM_036157988.1XP_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:461485
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:140161
      RPEL; RPEL repeat
    3. XM_006516905.5XP_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:530554
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:140161
      RPEL; RPEL repeat
    4. XM_036157990.1XP_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:461485
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:140161
      RPEL; RPEL repeat
    5. XM_006516906.5XP_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:530554
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:140161
      RPEL; RPEL repeat
    6. XM_036157989.1XP_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:461485
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:140161
      RPEL; RPEL repeat
    7. XM_030247227.2XP_030103087.1  phosphatase and actin regulator 1 isoform X6

      Conserved Domains (3) summary
      smart00707
      Location:369393
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:4869
      RPEL; RPEL repeat
      cl29414
      Location:330354
      RPEL; RPEL repeat
    8. XM_006516911.5XP_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:438462
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:4869
      RPEL; RPEL repeat
      cl29414
      Location:399423
      RPEL; RPEL repeat
    9. XM_030247228.2XP_030103088.1  phosphatase and actin regulator 1 isoform X6

      Conserved Domains (3) summary
      smart00707
      Location:369393
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:4869
      RPEL; RPEL repeat
      cl29414
      Location:330354
      RPEL; RPEL repeat
    10. XM_006516907.5XP_006516970.1  phosphatase and actin regulator 1 isoform X2

      Conserved Domains (2) summary
      smart00707
      Location:524548
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:134155
      RPEL; RPEL repeat
    11. XM_017315484.3XP_017170973.1  phosphatase and actin regulator 1 isoform X4

      Conserved Domains (2) summary
      smart00707
      Location:455479
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:134155
      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.