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

Gene ID: 218194, updated on 18-Apr-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 actin cytoskeleton organization; nervous system development; and regulation of neuron migration. 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 developmental and epileptic encephalopathy 70. Orthologous to human PHACTR1 (phosphatase and actin regulator 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in cortex adult (RPKM 18.5), frontal lobe adult (RPKM 16.3) and 9 other tissues See more
Orthologs
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Genomic context

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 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.