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PHACTR1 phosphatase and actin regulator 1 [ Homo sapiens (human) ]

Gene ID: 221692, updated on 8-Jul-2021

Summary

Official Symbol
PHACTR1provided by HGNC
Official Full Name
phosphatase and actin regulator 1provided by HGNC
Primary source
HGNC:HGNC:20990
See related
Ensembl:ENSG00000112137 MIM:608723
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
RPEL; DEE70; RPEL1; EIEE70; dJ257A7.2
Summary
The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
Expression
Biased expression in brain (RPKM 12.6), bone marrow (RPKM 5.8) and 12 other tissues See more
Orthologs
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Genomic context

See PHACTR1 in Genome Data Viewer
Location:
6p24.1
Exon count:
22
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (12716635..13290462)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (12716999..13288069)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L15 pseudogene 3 Neighboring gene long intergenic non-protein coding RNA 2530 Neighboring gene uncharacterized LOC107984015 Neighboring gene uncharacterized LOC105374935 Neighboring gene uncharacterized LOC105374934 Neighboring gene TBC1D7-LOC100130357 readthrough Neighboring gene uncharacterized LOC105374933 Neighboring gene Sharpr-MPRA regulatory region 805 Neighboring gene RNA, U1 small nuclear 11, pseudogene Neighboring gene uncharacterized LOC100130357 Neighboring gene uncharacterized LOC105374936 Neighboring gene TBC1 domain family member 7

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
A genome-wide association study in europeans and South asians identifies 5 new Loci for coronary artery disease.
GeneReviews: Not available
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
GeneReviews: Not available
Developmental and epileptic encephalopathy, 70
MedGen: C4749023 OMIM: 618298 GeneReviews: Not available
Compare labs
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
GeneReviews: Not available
Genome-wide association analysis identifies susceptibility loci for migraine without aura.
GeneReviews: Not available
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
GeneReviews: Not available
Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.
GeneReviews: Not available
Genome-wide association study in a Lebanese cohort confirms PHACTR1 as a major determinant of coronary artery stenosis.
GeneReviews: Not available
Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
GeneReviews: Not available
Genome-wide association with bone mass and geometry in the Framingham Heart Study.
GeneReviews: Not available
Genome-wide linkage and association scans for pulse pressure in Chinese twins.
GeneReviews: Not available
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
GeneReviews: Not available
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
GeneReviews: Not available
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1733, MGC126575, MGC126577

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables actin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein phosphatase 1 binding IEA
Inferred from Electronic Annotation
more info
 
enables protein phosphatase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in actin cytoskeleton reorganization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in actomyosin structure organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell motility IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cerebral cortex development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in dendrite arborization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of neuron migration ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in stress fiber assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in stress fiber assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
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_001242648.4NP_001229577.1  phosphatase and actin regulator 1 isoform a

    See identical proteins and their annotated locations for NP_001229577.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 all encode isoform a.
    Source sequence(s)
    AL008729, AL354680, AL391385, AL591682, Z99495
    Consensus CDS
    CCDS75401.1
    UniProtKB/Swiss-Prot
    Q9C0D0
    UniProtKB/TrEMBL
    B4DHU0
    Related
    ENSP00000501921.1, ENST00000676159.1
    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
  2. NM_001322308.3NP_001309237.1  phosphatase and actin regulator 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 all encode isoform a.
    Source sequence(s)
    AL008729, AL354680, AL391385, AL591682, Z99495
    Consensus CDS
    CCDS75401.1
    UniProtKB/Swiss-Prot
    Q9C0D0
    UniProtKB/TrEMBL
    B4DHU0
    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. NM_001322309.3NP_001309238.1  phosphatase and actin regulator 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 all encode isoform a.
    Source sequence(s)
    AL008729, AL354680, AL391385, AL591682, Z99495
    Consensus CDS
    CCDS75401.1
    UniProtKB/Swiss-Prot
    Q9C0D0
    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_001322310.2NP_001309239.1  phosphatase and actin regulator 1 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and includes an additional in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (b) that is longer than isoform a.
    Source sequence(s)
    AL008729, AL354680, AL391385, AL591682, Z99495
    UniProtKB/Swiss-Prot
    Q9C0D0
    UniProtKB/TrEMBL
    B4DHU0
    Conserved Domains (3) summary
    smart00707
    Location:530554
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:140161
    RPEL; RPEL repeat
    cl29414
    Location:491515
    RPEL; RPEL repeat
  5. NM_001322311.2NP_001309240.1  phosphatase and actin regulator 1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks several 5' exons but contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Both variants 6 and 7 encode isoform c.
    Source sequence(s)
    AL008729, AL391385, AL591682
    UniProtKB/Swiss-Prot
    Q9C0D0
    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
  6. NM_001322312.3NP_001309241.1  phosphatase and actin regulator 1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks several 5' exons but contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Both variants 6 and 7 encode isoform c.
    Source sequence(s)
    AL008729, AL391385, AL591682
    UniProtKB/Swiss-Prot
    Q9C0D0
    Related
    ENSP00000502037.1, ENST00000676234.1
    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
  7. NM_001322313.2NP_001309242.1  phosphatase and actin regulator 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks several 5' exons but contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation from a downstream in-frame start codon, and it also includes an additional in-frame exon in the central coding region, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AL008729, AL391385, AL591682
    UniProtKB/Swiss-Prot
    Q9C0D0
    UniProtKB/TrEMBL
    B4DHU0
    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
  8. NM_001322314.4NP_001309243.1  phosphatase and actin regulator 1 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) lacks several 5' exons but contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation from an alternate start codon, and it also includes an additional in-frame exon in the central coding region, compared to variant 1. The encoded isoform (e) has a distinct N-terminus and is longer than isoform a.
    Source sequence(s)
    AL008729, AL391385, AL591682
    UniProtKB/Swiss-Prot
    Q9C0D0
    UniProtKB/TrEMBL
    B4DHU0
    Related
    ENSP00000502172.1, ENST00000675203.1
    Conserved Domains (2) summary
    smart00707
    Location:531555
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:141162
    RPEL; RPEL repeat
  9. NM_001374581.2NP_001361510.1  phosphatase and actin regulator 1 isoform f

    Status: REVIEWED

    Source sequence(s)
    AL008729, AL354680, AL391385, AL591682, Z99495
    Related
    ENSP00000502157.1, ENST00000674595.1
    Conserved Domains (3) summary
    smart00707
    Location:461485
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:140161
    RPEL; RPEL repeat
    cl29414
    Location:422446
    RPEL; RPEL repeat
  10. NM_001374582.1NP_001361511.1  phosphatase and actin regulator 1 isoform g

    Status: REVIEWED

    Source sequence(s)
    AL008729, AL354680, AL391385, AL591682, Z99495
    Conserved Domains (2) summary
    smart00707
    Location:491515
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:140161
    RPEL; RPEL repeat
  11. NM_001374583.2NP_001361512.1  phosphatase and actin regulator 1 isoform h

    Status: REVIEWED

    Source sequence(s)
    AL008729, AL391385, AL591682
    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
  12. NM_001374584.1NP_001361513.1  phosphatase and actin regulator 1 isoform i

    Status: REVIEWED

    Source sequence(s)
    AL354680, Z99495
  13. NM_030948.6NP_112210.1  phosphatase and actin regulator 1 isoform a

    See identical proteins and their annotated locations for NP_112210.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a. Variants 1, 2, 3 and 4 all encode isoform a.
    Source sequence(s)
    AL008729, AL354680, AL391385, AL591682, Z99495
    Consensus CDS
    CCDS75401.1
    UniProtKB/Swiss-Prot
    Q9C0D0
    UniProtKB/TrEMBL
    B4DHU0
    Related
    ENSP00000329880.8, ENST00000332995.12
    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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    12716635..13290462
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010457.2XP_016865946.1  phosphatase and actin regulator 1 isoform X2

  2. XM_017010455.2XP_016865944.1  phosphatase and actin regulator 1 isoform X2

  3. XM_017010460.2XP_016865949.1  phosphatase and actin regulator 1 isoform X5

    Conserved Domains (3) summary
    smart00707
    Location:461485
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:140161
    RPEL; RPEL repeat
    cl29414
    Location:422446
    RPEL; RPEL repeat
  4. XM_017010454.2XP_016865943.1  phosphatase and actin regulator 1 isoform X2

  5. XM_017010459.2XP_016865948.1  phosphatase and actin regulator 1 isoform X5

    Conserved Domains (3) summary
    smart00707
    Location:461485
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:140161
    RPEL; RPEL repeat
    cl29414
    Location:422446
    RPEL; RPEL repeat
  6. XM_005248934.3XP_005248991.1  phosphatase and actin regulator 1 isoform X3

    See identical proteins and their annotated locations for XP_005248991.1

    Conserved Domains (3) summary
    smart00707
    Location:530554
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:140161
    RPEL; RPEL repeat
    cl29414
    Location:491515
    RPEL; RPEL repeat
  7. XM_017010456.2XP_016865945.1  phosphatase and actin regulator 1 isoform X2

  8. XM_017010462.2XP_016865951.1  phosphatase and actin regulator 1 isoform X5

    Conserved Domains (3) summary
    smart00707
    Location:461485
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:140161
    RPEL; RPEL repeat
    cl29414
    Location:422446
    RPEL; RPEL repeat
  9. XM_017010466.2XP_016865955.1  phosphatase and actin regulator 1 isoform X7

  10. XM_017010469.2XP_016865958.1  phosphatase and actin regulator 1 isoform X8

    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
  11. XM_017010465.2XP_016865954.1  phosphatase and actin regulator 1 isoform X7

  12. XM_017010452.2XP_016865941.1  phosphatase and actin regulator 1 isoform X1

  13. XM_017010458.2XP_016865947.1  phosphatase and actin regulator 1 isoform X4

  14. XM_017010464.2XP_016865953.1  phosphatase and actin regulator 1 isoform X6

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