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    PPP1R7 protein phosphatase 1 regulatory subunit 7 [ Homo sapiens (human) ]

    Gene ID: 5510, updated on 5-May-2024

    Summary

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    Official Symbol
    PPP1R7provided by HGNC
    Official Full Name
    protein phosphatase 1 regulatory subunit 7provided by HGNC
    Primary source
    HGNC:HGNC:9295
    See related
    Ensembl:ENSG00000115685 MIM:602877; AllianceGenome:HGNC:9295
    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
    SDS22
    Summary
    This gene encodes a protein subunit that regulates the activity of the serine/threonine phosphatase, protein phosphatase-1. The encoded protein is required for completion of the mitotic cycle and for targeting protein phosphatase-1 to mitotic kinetochores. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
    Expression
    Broad expression in testis (RPKM 40.9), brain (RPKM 18.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2q37.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (241149573..241183652)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (241648673..241683461)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (242088988..242123067)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985787 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241949545-241950150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241950151-241950754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241957354-241957854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241957855-241958355 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57691 Neighboring gene SNED1 antisense RNA 1 Neighboring gene sushi, nidogen and EGF like domains 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241973517-241974460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241974461-241975402 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241975403-241976346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12526 Neighboring gene mitochondrial transcription termination factor 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242012857-242013373 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242040949-242041488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242041489-242042028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17415 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57723 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57727 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17417 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242079269-242079769 Neighboring gene PAS domain containing serine/threonine kinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12528 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12530 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242097726-242098226 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:242106157-242106656 Neighboring gene uncharacterized LOC105373971 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242125644-242126166 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242127362-242128046 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242128047-242128730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242129664-242130164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242130165-242130665 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242152515-242153074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242155713-242156244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17420 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57796 Neighboring gene anoctamin 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242163435-242164395 Neighboring gene uncharacterized LOC105376810 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:242175313-242175524 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:242189957-242190163 Neighboring gene high density lipoprotein binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17421 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12533 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12534 Neighboring gene HDLBP antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Protein Phosphatase 1 Regulatory Subunit SDS22 Inhibits Breast Cancer Cell Tumorigenesis by Functioning as a Negative Regulator of the AKT Signaling Pathway. Paul D, et al. Neoplasia, 2019 Jan. PMID 30500680, Free PMC Article
    2. Sds22 regulates aurora B activity and microtubule-kinetochore interactions at mitosis. Posch M, et al. J Cell Biol, 2010 Oct 4. PMID 20921135, Free PMC Article
    3. SDS22 selectively recognizes and traps metal-deficient inactive PP1. Choy MS, et al. Proc Natl Acad Sci U S A, 2019 Oct 8. PMID 31548429, Free PMC Article
    4. Structure-Guided Exploration of SDS22 Interactions with Protein Phosphatase PP1 and the Splicing Factor BCLAF1. Heroes E, et al. Structure, 2019 Mar 5. PMID 30661852, Free PMC Article
    5. Phosphorylation of PP1 Regulator Sds22 by PLK1 Ensures Accurate Chromosome Segregation. Duan H, et al. J Biol Chem, 2016 Sep 30. PMID 27557660, Free PMC Article

    See all (69) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural and biochemical studies revealed that the concave side of SDS22 likely interacts with PP1 helices alpha5 and alpha6, which are distal from the binding sites of many previously described PP1 interactors. Accordingly, SDS22 would act as a "third" subunit of multiple PP1 holoenzymes. The crystal structure of SDS22 also revealed a large basic surface patch that enables binding of a phosphorylated form of BCLAF1.
      Title: Structure-Guided Exploration of SDS22 Interactions with Protein Phosphatase PP1 and the Splicing Factor BCLAF1.
    2. Ppp1r7 may play a central role in regulating the PP1 interactome by acting as a competitive molecular "sponge" of PP1c.
      Title: Rearrangement of the Protein Phosphatase 1 Interactome During Heart Failure Progression.
    3. our findings revealed that protein phosphatase regulatory subunit SDS22 functions as a putative tumor suppressor by dephosphorylation-mediated inactivation of AKT and MAPK signaling pathways.
      Title: Protein Phosphatase 1 Regulatory Subunit SDS22 Inhibits Breast Cancer Cell Tumorigenesis by Functioning as a Negative Regulator of the AKT Signaling Pathway.
    4. a Fra-1-miR-134 axis drives a positive feedback loop that amplifies ERK/JNK signaling and reduces chemosensitivity in ovarian cancer cells.
      Title: The Fra-1-miR-134-SDS22 feedback loop amplifies ERK/JNK signaling and reduces chemosensitivity in ovarian cancer cells.
    5. Mechanistically, the phosphorylation of Sds22 by PLK1 strengthens the binding of Sds22 to PP1 and inhibits the dephosphorylation of Thr(232) of Aurora B to ensure a robust, error-free metaphase-anaphase transition.
      Title: Phosphorylation of PP1 Regulator Sds22 by PLK1 Ensures Accurate Chromosome Segregation.
    6. there is a second, parallel signalling pathway which triggers the relaxation of the polar cell cortex at mid anaphase--independent of furrow formation, centrosomes and microtubules, pathway depends on PP1 phosphatase and regulatory subunit Sds22
      Title: Kinetochore-localized PP1-Sds22 couples chromosome segregation to polar relaxation.
    7. a model in which I3 regulates an SDS22-mediated PP1 activation step in solution that precedes SDS22 dissociation and transfer of PP1 to kinetochores, and which is required for PP1 to efficiently antagonize Aurora B.
      Title: Inhibitor-3 ensures bipolar mitotic spindle attachment by limiting association of SDS22 with kinetochore-bound protein phosphatase-1.
    8. It was shown that Repo-Man and Sds22 contribute to timely Aurora B kinase substrate dephosphorylation on anaphase chromatin.
      Title: Sds22 and Repo-Man stabilize chromosome segregation by counteracting Aurora B on anaphase kinetochores.
    9. human Sds22 is focally deleted and downregulated in multiple carcinomas, and this downregulation correlates with tumor progression, suggesting that sds22 inactivation may contribute to tumorigenesis and metastatic potential
      Title: Sds22/PP1 links epithelial integrity and tumor suppression via regulation of myosin II and JNK signaling.
    10. Sds22 specifically defines protein phosphatase 1 function and localization in mitosis.
      Title: Sds22 regulates aurora B activity and microtubule-kinetochore interactions at mitosis.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme regulator activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase regulator activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within positive regulation of protein dephosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    protein phosphatase 1 regulatory subunit 7
    Names
    protein phosphatase 1 regulatory subunit 22
    protein phosphatase 1, regulatory (inhibitor) subunit 7
    testis secretory sperm-binding protein Li 210a

    NCBI Reference Sequences (RefSeq)

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    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_001282409.1 → NP_001269338.1  protein phosphatase 1 regulatory subunit 7 isoform 2

      See identical proteins and their annotated locations for NP_001269338.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded protein (isoform 2, also known as sds22alpha2) is shorter compared to isoform 1.
      Source sequence(s)
      AC005237, BC051689, BM676947
      Consensus CDS
      CCDS63194.1
      UniProtKB/TrEMBL
      C9J177
      Related
      ENSP00000272983.8, ENST00000272983.12
      Conserved Domains (3) summary
      smart00446
      Location:293 → 311
      LRRcap; occurring C-terminal to leucine-rich repeats
      sd00033
      Location:57 → 78
      LRR_RI; leucine-rich repeat [structural motif]
      NF033189
      Location:44 → 274
      internalin_A; class 1 internalin InlA

    2. NM_001282410.1 → NP_001269339.1  protein phosphatase 1 regulatory subunit 7 isoform 3

      See identical proteins and their annotated locations for NP_001269339.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' structure resulting in a novel 3' coding region and 3' UTR compared to variant 1. The encoded protein (isoform 3, also known as sds22beta1) is shorter compared to isoform 1.
      Source sequence(s)
      AC005237, BC013001, BC051689
      Consensus CDS
      CCDS63192.1
      UniProtKB/Swiss-Prot
      Q15435
      Related
      ENSP00000385022.3, ENST00000406106.7
      Conserved Domains (2) summary
      COG4886
      Location:108 → 272
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:100 → 121
      LRR_RI; leucine-rich repeat [structural motif]

    3. NM_001282411.1 → NP_001269340.1  protein phosphatase 1 regulatory subunit 7 isoform 4

      See identical proteins and their annotated locations for NP_001269340.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks alternate exons in the coding region and uses an alternate 3' terminal exon compared to variant 1. The encoded protein (isoform 4, also known as sds22beta2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC005237, BC013001, BC051689, BG684153
      Consensus CDS
      CCDS63193.1
      UniProtKB/Swiss-Prot
      Q15435
      Related
      ENSP00000385466.1, ENST00000401987.5
      Conserved Domains (3) summary
      sd00033
      Location:57 → 78
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:165 → 207
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:165 → 221
      LRR_8; Leucine rich repeat

    4. NM_001282412.1 → NP_001269341.1  protein phosphatase 1 regulatory subunit 7 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate 5' structure, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon compared to variant 1. The encoded protein (isoform 5) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC005237, AK308015, BC000910, BM676947, DA787059
      UniProtKB/TrEMBL
      H7C003
      Related
      ENSP00000392373.1, ENST00000450367.1
      Conserved Domains (3) summary
      sd00033
      Location:84 → 105
      LRR_RI; leucine-rich repeat [structural motif]
      NF033188
      Location:65 → 227
      internalin_H; InlH/InlC2 family class 1 internalin
      cd21340
      Location:147 → 338
      PPP1R42; protein phosphatase 1 regulatory subunit 42

    5. NM_001282413.1 → NP_001269342.1  protein phosphatase 1 regulatory subunit 7 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate 5' structure, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon compared to variant 1. The encoded protein (isoform 6) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC005237, AK308015, BC000910, BI256145, BM676947, DA787059
      UniProtKB/TrEMBL
      C9J177
      Related
      ENSP00000412092.1, ENST00000423280.5
      Conserved Domains (3) summary
      sd00033
      Location:41 → 62
      LRR_RI; leucine-rich repeat [structural motif]
      NF033188
      Location:22 → 184
      internalin_H; InlH/InlC2 family class 1 internalin
      cd21340
      Location:104 → 295
      PPP1R42; protein phosphatase 1 regulatory subunit 42

    6. NM_001282414.1 → NP_001269343.1  protein phosphatase 1 regulatory subunit 7 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' and 3' UTRs and has multiple coding region differences compared to variant 1. The encoded protein (isoform 7) is shorter and has distinct N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC005237, BC013001, BQ212238, DA787059
      Consensus CDS
      CCDS63190.1
      UniProtKB/Swiss-Prot
      Q15435
      Related
      ENSP00000385012.1, ENST00000402734.5
      Conserved Domains (2) summary
      sd00033
      Location:41 → 62
      LRR_RI; leucine-rich repeat [structural motif]
      cd21340
      Location:38 → 213
      PPP1R42; protein phosphatase 1 regulatory subunit 42

    7. NM_002712.3 → NP_002703.1  protein phosphatase 1 regulatory subunit 7 isoform 1

      See identical proteins and their annotated locations for NP_002703.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also known as sds22alpha1).
      Source sequence(s)
      AC005237, BC000910, BC051689, BM676947
      Consensus CDS
      CCDS2546.1
      UniProtKB/Swiss-Prot
      B4DFD4, B5MCY6, Q15435, Q9UQE5, Q9UQE6, Q9Y6K4
      UniProtKB/TrEMBL
      A0A140VK83, H7C003
      Related
      ENSP00000234038.6, ENST00000234038.11
      Conserved Domains (3) summary
      smart00446
      Location:336 → 354
      LRRcap; occurring C-terminal to leucine-rich repeats
      sd00033
      Location:100 → 121
      LRR_RI; leucine-rich repeat [structural motif]
      NF033189
      Location:87 → 317
      internalin_A; class 1 internalin InlA

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      241149573..241183652
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444851.1 → XP_047300807.1  protein phosphatase 1 regulatory subunit 7 isoform X2

      Related
      ENSP00000396376.1, ENST00000438799.5

    2. XM_011511388.3 → XP_011509690.1  protein phosphatase 1 regulatory subunit 7 isoform X1

      UniProtKB/TrEMBL
      C9J177
      Conserved Domains (3) summary
      smart00446
      Location:268 → 286
      LRRcap; occurring C-terminal to leucine-rich repeats
      sd00033
      Location:32 → 53
      LRR_RI; leucine-rich repeat [structural motif]
      NF033189
      Location:19 → 249
      internalin_A; class 1 internalin InlA

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      241648673..241683461
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342715.1 → XP_054198690.1  protein phosphatase 1 regulatory subunit 7 isoform X2

    2. XM_054342714.1 → XP_054198689.1  protein phosphatase 1 regulatory subunit 7 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15435.1 GenPept UniProtKB/Swiss-Prot:Q15435

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