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PHACTR3 phosphatase and actin regulator 3 [ Homo sapiens (human) ]

Gene ID: 116154, updated on 4-May-2020

Summary

Official Symbol
PHACTR3provided by HGNC
Official Full Name
phosphatase and actin regulator 3provided by HGNC
Primary source
HGNC:HGNC:15833
See related
Ensembl:ENSG00000087495 MIM:608725
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
H17739; SCAPIN1; PPP1R123; SCAPININ; C20orf101
Summary
This gene encodes a member of the phosphatase and actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, and binds to actin and the catalytic subunit of protein phosphatase-1, suggesting that it functions as a regulatory subunit of protein phosphatase-1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Expression
Biased expression in brain (RPKM 9.3), spleen (RPKM 1.0) and 2 other tissues See more
Orthologs

Genomic context

See PHACTR3 in Genome Data Viewer
Location:
20q13.32-q13.33
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (59577497..59849829)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (58152564..58422766)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372696 Neighboring gene piezo type mechanosensitive ion channel component 1 pseudogene 1 Neighboring gene uncharacterized LOC107985430 Neighboring gene PHACTR3 antisense RNA 1 Neighboring gene RNA, U7 small nuclear 141 pseudogene Neighboring gene synaptonemal complex protein 2

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

NHGRI GWAS Catalog

Description
Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC117178

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin binding IEA
Inferred from Electronic Annotation
more info
 
protein phosphatase 1 binding IEA
Inferred from Electronic Annotation
more info
 
protein phosphatase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of phosphoprotein phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear matrix IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
phosphatase and actin regulator 3
Names
protein phosphatase 1, regulatory subunit 123
scaffold-associated PP1-inhibiting protein

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_029537.2 RefSeqGene

    Range
    5001..275203
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199505.1NP_001186434.1  phosphatase and actin regulator 3 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AB098521, AJ311122, AK098788
    Consensus CDS
    CCDS56202.1
    UniProtKB/Swiss-Prot
    Q96KR7
    Related
    ENSP00000353002.3, ENST00000359926.7
    Conserved Domains (1) summary
    smart00707
    Location:437461
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
  2. NM_001199506.1NP_001186435.1  phosphatase and actin regulator 3 isoform 2

    See identical proteins and their annotated locations for NP_001186435.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate 5'-terminal exon and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2, also known as scapinin-L) has a shorter N-terminus, compared to isoform 1. Variants 2, 5, and 6 encode the same isoform.
    Source sequence(s)
    AB098521, AJ311122, AJ617581
    Consensus CDS
    CCDS42895.1
    UniProtKB/Swiss-Prot
    Q96KR7
    Related
    ENSP00000347866.4, ENST00000355648.8
    Conserved Domains (1) summary
    smart00707
    Location:399423
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
  3. NM_001281507.1NP_001268436.1  phosphatase and actin regulator 3 isoform 2

    See identical proteins and their annotated locations for NP_001268436.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate 5'-terminal exon and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2, also known as scapinin-L) has a shorter N-terminus, compared to isoform 1. Variants 2, 5, and 6 encode the same isoform.
    Source sequence(s)
    AB098521, AJ311122, AK295459
    Consensus CDS
    CCDS42895.1
    UniProtKB/Swiss-Prot
    Q96KR7
    UniProtKB/TrEMBL
    B7Z339
    Related
    ENSP00000442483.1, ENST00000541461.5
    Conserved Domains (1) summary
    smart00707
    Location:399423
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
  4. NM_080672.5NP_542403.1  phosphatase and actin regulator 3 isoform 1

    See identical proteins and their annotated locations for NP_542403.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB098521, AL121908, BC108303
    Consensus CDS
    CCDS13480.1
    UniProtKB/Swiss-Prot
    Q96KR7
    Related
    ENSP00000360054.1, ENST00000371015.6
    Conserved Domains (2) summary
    smart00707
    Location:440464
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    cl26511
    Location:292551
    Neuromodulin_N; Gap junction protein N-terminal region
  5. NM_183244.1NP_899067.1  phosphatase and actin regulator 3 isoform 2

    See identical proteins and their annotated locations for NP_899067.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 5'-terminal exon and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2, also known as scapinin-L) has a shorter N-terminus, compared to isoform 1. Variants 2, 5, and 6 encode the same isoform.
    Source sequence(s)
    AB098521, BC108303
    Consensus CDS
    CCDS42895.1
    UniProtKB/Swiss-Prot
    Q96KR7
    Related
    ENSP00000378998.2, ENST00000395636.6
    Conserved Domains (1) summary
    smart00707
    Location:399423
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
  6. NM_183246.1NP_899069.1  phosphatase and actin regulator 3 isoform 3

    See identical proteins and their annotated locations for NP_899069.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate 5'-terminal exon, lacks an in-frame exon in the central coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3, also known as scapinin-S) is shorter, compared to isoform 1.
    Source sequence(s)
    AB098521, AB098522, BC108303
    Consensus CDS
    CCDS13481.1
    UniProtKB/Swiss-Prot
    Q96KR7
    Related
    ENSP00000354555.4, ENST00000361300.4
    Conserved Domains (1) summary
    smart00707
    Location:329353
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    59577497..59849829
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027628.1XP_016883117.1  phosphatase and actin regulator 3 isoform X3

  2. XM_017027626.2XP_016883115.1  phosphatase and actin regulator 3 isoform X1

    UniProtKB/Swiss-Prot
    Q96KR7
    Conserved Domains (1) summary
    smart00707
    Location:399423
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
  3. XM_011528525.2XP_011526827.1  phosphatase and actin regulator 3 isoform X1

    See identical proteins and their annotated locations for XP_011526827.1

    UniProtKB/Swiss-Prot
    Q96KR7
    Conserved Domains (1) summary
    smart00707
    Location:399423
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
  4. XM_017027630.1XP_016883119.1  phosphatase and actin regulator 3 isoform X4

    UniProtKB/Swiss-Prot
    Q96KR7
    Conserved Domains (1) summary
    smart00707
    Location:329353
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
  5. XM_011528526.2XP_011526828.1  phosphatase and actin regulator 3 isoform X2

    Conserved Domains (2) summary
    smart00707
    Location:370394
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam15345
    Location:3488
    TMEM51; Transmembrane protein 51
  6. XM_017027631.1XP_016883120.1  phosphatase and actin regulator 3 isoform X1

    UniProtKB/Swiss-Prot
    Q96KR7
    Conserved Domains (1) summary
    smart00707
    Location:399423
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
  7. XM_017027629.2XP_016883118.1  phosphatase and actin regulator 3 isoform X4

    UniProtKB/Swiss-Prot
    Q96KR7
    Conserved Domains (1) summary
    smart00707
    Location:329353
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
  8. XM_017027627.2XP_016883116.1  phosphatase and actin regulator 3 isoform X1

    UniProtKB/Swiss-Prot
    Q96KR7
    Conserved Domains (1) summary
    smart00707
    Location:399423
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
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