U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 221692, updated on 27-Nov-2024

    Summary

    Go to the top of the page Help
    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; AllianceGenome:HGNC:20990
    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
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See PHACTR1 in Genome Data Viewer
    Location:
    6p24.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (12716767..13287837)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (12585196..13161093)
    RS_2024_09 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 Sharpr-MPRA regulatory region 7011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24019 Neighboring gene long intergenic non-protein coding RNA 2530 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16923 Neighboring gene NANOG hESC enhancer GRCh37_chr6:12672164-12672665 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:12673381-12673882 Neighboring gene uncharacterized LOC107984015 Neighboring gene uncharacterized LOC124901503 Neighboring gene uncharacterized LOC105374935 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:12749187-12749871 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:12749997-12750498 Neighboring gene uncharacterized LOC105374934 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:12851299-12851828 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:12887216-12887819 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:12956003-12956794 Neighboring gene uncharacterized LOC124901262 Neighboring gene TBC1D7-LOC100130357 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16924 Neighboring gene MPRA-validated peak5664 silencer Neighboring gene uncharacterized LOC105374933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24020 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16925 Neighboring gene Sharpr-MPRA regulatory region 805 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:13257894-13258394 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:13258395-13258895 Neighboring gene RNA, U1 small nuclear 11, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24021 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:13273523-13274722 Neighboring gene uncharacterized LOC100130357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24023 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:13307473-13308672 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:13328608-13329114 Neighboring gene uncharacterized LOC124901261 Neighboring gene TBC1 domain family member 7

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Elucidation of toxicity pathways in lung epithelial cells induced by silicon dioxide nanoparticles. Okoturo-Evans O, et al. PLoS One, 2013. PMID 24023737, Free PMC Article
    2. Genetics of Coronary Artery Disease in Taiwan: A Cardiometabochip Study by the Taichi Consortium. Assimes TL, et al. PLoS One, 2016. PMID 26982883, Free PMC Article
    3. Genetic variation and reproductive timing: African American women from the Population Architecture using Genomics and Epidemiology (PAGE) Study. Spencer KL, et al. PLoS One, 2013. PMID 23424626, Free PMC Article
    4. Disruption of phactr-1 pathway triggers pro-inflammatory and pro-atherogenic factors: New insights in atherosclerosis development. Jarray R, et al. Biochimie, 2015 Nov. PMID 26362351
    5. Microarray analysis of differentially expressed genes regulating lipid metabolism during melanoma progression. Sumantran VN, et al. Indian J Biochem Biophys, 2015 Apr. PMID 26118123

    See all (84) 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. PHACTR1 modulates vascular compliance but not endothelial function: a translational study.
      Title: PHACTR1 modulates vascular compliance but not endothelial function: a translational study.
    3. PHACTR1, a coronary artery disease risk gene, mediates endothelial dysfunction.
      Title: PHACTR1, a coronary artery disease risk gene, mediates endothelial dysfunction.
    4. A Study of Associations Between rs9349379 (PHACTR1), rs2891168 (CDKN2B-AS), rs11838776 (COL4A2) and rs4880 (SOD2) Polymorphic Variants and Coronary Artery Disease in Iranian Population.
      Title: A Study of Associations Between rs9349379 (PHACTR1), rs2891168 (CDKN2B-AS), rs11838776 (COL4A2) and rs4880 (SOD2) Polymorphic Variants and Coronary Artery Disease in Iranian Population.
    5. The association of polymorphism in PHACTR1 rs9349379 and rs12526453 with coronary artery atherosclerosis or coronary artery calcification. A systematic review.
      Title: The association of polymorphism in PHACTR1 rs9349379 and rs12526453 with coronary artery atherosclerosis or coronary artery calcification. A systematic review.
    6. 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.
    7. Deficiency of macrophage PHACTR1 impairs efferocytosis and promotes atherosclerotic plaque necrosis.
      Title: Deficiency of macrophage PHACTR1 impairs efferocytosis and promotes atherosclerotic plaque necrosis.
    8. Genetic Study of PHACTR1 and Fibromuscular Dysplasia, Meta-Analysis and Effects on Clinical Features of Patients: The ARCADIA-POL Study.
      Title: Genetic Study of PHACTR1 and Fibromuscular Dysplasia, Meta-Analysis and Effects on Clinical Features of Patients: The ARCADIA-POL Study.
    9. Association of PHACTR1 intronic variants with the first myocardial infarction and their effect on PHACTR1 mRNA expression in PBMCs.
      Title: Association of PHACTR1 intronic variants with the first myocardial infarction and their effect on PHACTR1 mRNA expression in PBMCs.
    10. Associations between PHACTR1 gene polymorphisms and pulse pressure in Chinese Han population.
      Title: Associations between PHACTR1 gene polymorphisms and pulse pressure in Chinese Han population.
    Submit: New GeneRIF Correction See all GeneRIFs (38)

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy, 70
    MedGen: C4749023 OMIM: 618298 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study in europeans and South asians identifies 5 new Loci for coronary artery disease.
    EBI GWAS Catalog
    A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
    EBI GWAS Catalog
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Genome-wide association analysis identifies susceptibility loci for migraine without aura.
    EBI GWAS Catalog
    Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
    EBI GWAS Catalog
    Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.
    EBI GWAS Catalog
    Genome-wide association study in a Lebanese cohort confirms PHACTR1 as a major determinant of coronary artery stenosis.
    EBI GWAS Catalog
    Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
    EBI GWAS Catalog
    Genome-wide association with bone mass and geometry in the Framingham Heart Study.
    EBI GWAS Catalog
    Genome-wide linkage and association scans for pulse pressure in Chinese twins.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog
    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
    EBI GWAS Catalog
    Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    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
    		  
    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 inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization 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
    		  
    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 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
    		  
    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

    Go to the top of the page Help
    Preferred Names
    phosphatase and actin regulator 1
    Names
    RPEL repeat containing 1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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_001242648.4 → NP_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
      A8K1V2, Q3MJ93, Q5JSJ2, Q9C0D0
      UniProtKB/TrEMBL
      A0A8I5KVE0
      Related
      ENSP00000501921.1, ENST00000676159.1
      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

    2. NM_001322308.3 → NP_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
      A8K1V2, Q3MJ93, Q5JSJ2, Q9C0D0
      UniProtKB/TrEMBL
      A0A8I5KVE0
      Related
      ENSP00000509837.1, ENST00000689548.1
      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. NM_001322309.3 → NP_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
      A8K1V2, Q3MJ93, Q5JSJ2, Q9C0D0
      UniProtKB/TrEMBL
      A0A8I5KVE0
      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_001322310.2 → NP_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/TrEMBL
      A0A8I5KVE0
      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

    5. NM_001322311.2 → NP_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
      Consensus CDS
      CCDS93860.1
      UniProtKB/TrEMBL
      A0A6Q8PFA8, A0A8I5KVE0
      Related
      ENSP00000509690.1, ENST00000692995.1
      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

    6. NM_001322312.3 → NP_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
      Consensus CDS
      CCDS93860.1
      UniProtKB/TrEMBL
      A0A6Q8PFA8, A0A8I5KVE0
      Related
      ENSP00000502037.1, ENST00000676234.1
      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

    7. NM_001322313.2 → NP_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
      Consensus CDS
      CCDS93859.1
      UniProtKB/TrEMBL
      A0A8I5KVE0, A0A8I5QJF9
      Related
      ENSP00000509410.1, ENST00000687600.1
      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

    8. NM_001322314.4 → NP_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
      Consensus CDS
      CCDS93858.1
      UniProtKB/TrEMBL
      A0A6Q8PGC2
      Related
      ENSP00000502172.2, ENST00000675203.2
      Conserved Domains (2) summary
      smart00707
      Location:531 → 555
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:141 → 162
      RPEL; RPEL repeat

    9. NM_001374581.2 → NP_001361510.1  phosphatase and actin regulator 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL008729, AL354680, AL391385, AL591682, Z99495
      Consensus CDS
      CCDS93857.1
      UniProtKB/TrEMBL
      A0A6Q8PG87, A0A8I5KVE0
      Related
      ENSP00000502157.1, ENST00000674595.1
      Conserved Domains (3) summary
      smart00707
      Location:461 → 485
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:140 → 161
      RPEL; RPEL repeat
      cl29414
      Location:422 → 446
      RPEL; RPEL repeat

    10. NM_001374582.1 → NP_001361511.1  phosphatase and actin regulator 1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AL008729, AL354680, AL391385, AL591682, Z99495
      UniProtKB/TrEMBL
      B4DHU0
      Conserved Domains (2) summary
      smart00707
      Location:491 → 515
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:140 → 161
      RPEL; RPEL repeat

    11. NM_001374583.2 → NP_001361512.1  phosphatase and actin regulator 1 isoform h

      Status: REVIEWED

      Source sequence(s)
      AL008729, AL391385, AL591682
      UniProtKB/TrEMBL
      A0A8I5KVE0
      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

    12. NM_001374584.1 → NP_001361513.1  phosphatase and actin regulator 1 isoform i

      Status: REVIEWED

      Source sequence(s)
      AL354680, Z99495
      Related
      ENST00000690071.1

    13. NM_030948.6 → NP_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
      A8K1V2, Q3MJ93, Q5JSJ2, Q9C0D0
      UniProtKB/TrEMBL
      A0A8I5KVE0
      Related
      ENSP00000329880.8, ENST00000332995.12
      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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      12716767..13287837
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005248934.4 → XP_005248991.1  phosphatase and actin regulator 1 isoform X1

      See identical proteins and their annotated locations for XP_005248991.1

      UniProtKB/TrEMBL
      A0A8I5KVE0
      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_047418373.1 → XP_047274329.1  phosphatase and actin regulator 1 isoform X1

    3. XM_047418372.1 → XP_047274328.1  phosphatase and actin regulator 1 isoform X1

    4. XM_017010459.3 → XP_016865948.1  phosphatase and actin regulator 1 isoform X3

      UniProtKB/TrEMBL
      A0A6Q8PG87, A0A8I5KVE0
      Conserved Domains (3) summary
      smart00707
      Location:461 → 485
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:140 → 161
      RPEL; RPEL repeat
      cl29414
      Location:422 → 446
      RPEL; RPEL repeat

    5. XM_047418374.1 → XP_047274330.1  phosphatase and actin regulator 1 isoform X1

    6. XM_017010464.3 → XP_016865953.1  phosphatase and actin regulator 1 isoform X4

      UniProtKB/TrEMBL
      A0A8I5KVE0

    7. XM_047418375.1 → XP_047274331.1  phosphatase and actin regulator 1 isoform X5

      UniProtKB/TrEMBL
      A0A8I5QJF9

    8. XM_017010458.3 → XP_016865947.1  phosphatase and actin regulator 1 isoform X2

      UniProtKB/TrEMBL
      A0A8I5KVE0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      12585196..13161093
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054354633.1 → XP_054210608.1  phosphatase and actin regulator 1 isoform X1

    2. XM_054354635.1 → XP_054210610.1  phosphatase and actin regulator 1 isoform X1

    3. XM_054354634.1 → XP_054210609.1  phosphatase and actin regulator 1 isoform X1

    4. XM_054354638.1 → XP_054210613.1  phosphatase and actin regulator 1 isoform X3

      UniProtKB/TrEMBL
      A0A6Q8PG87

    5. XM_054354636.1 → XP_054210611.1  phosphatase and actin regulator 1 isoform X1

    6. XM_054354639.1 → XP_054210614.1  phosphatase and actin regulator 1 isoform X4

    7. XM_054354637.1 → XP_054210612.1  phosphatase and actin regulator 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9C0D0.3 GenPept UniProtKB/Swiss-Prot:Q9C0D0

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools