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    CPPED1 calcineurin like phosphoesterase domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 55313, updated on 27-Dec-2024

    Summary

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    Official Symbol
    CPPED1provided by HGNC
    Official Full Name
    calcineurin like phosphoesterase domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25632
    See related
    Ensembl:ENSG00000103381 MIM:615603; AllianceGenome:HGNC:25632
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CSTP1
    Summary
    Predicted to enable metal ion binding activity and phosphoprotein phosphatase activity. Predicted to be involved in chromatin remodeling and regulation of transcription by RNA polymerase II. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 8.6), kidney (RPKM 8.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CPPED1 in Genome Data Viewer
    Location:
    16p13.12
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (12659799..12803887, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (12696825..12840919, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (12753656..12897744, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene sorting nexin 29 Neighboring gene uncharacterized LOC105371085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:12685995-12686514 Neighboring gene CRISPRi-validated cis-regulatory element chr16.1337 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:12707003-12708202 Neighboring gene Sharpr-MPRA regulatory region 11276 Neighboring gene uncharacterized LOC105371088 Neighboring gene Sharpr-MPRA regulatory region 10358 Neighboring gene uncharacterized LOC105371090 Neighboring gene microRNA 4718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7220 Neighboring gene MPRA-validated peak2502 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7221 Neighboring gene small nucleolar RNA SNORA27 Neighboring gene ribosomal protein L35a pseudogene 34

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of a non-purple tartrate-resistant acid phosphatase: an evolutionary link to Ser/Thr protein phosphatases? Hadler KS, et al. BMC Res Notes, 2008 Sep 4. PMID 18771593, Free PMC Article
    2. Expression of CPPED1 in human trophoblasts is associated with timing of term birth. Haapalainen AM, et al. J Cell Mol Med, 2018 Feb. PMID 29193784, Free PMC Article
    3. Downregulation of CPPED1 expression improves glucose metabolism in vitro in adipocytes. Vaittinen M, et al. Diabetes, 2013 Nov. PMID 23939394, Free PMC Article
    4. The UAS thioredoxin-like domain of UBXN7 regulates E3 ubiquitin ligase activity of RNF111/Arkadia. Amhaz S, et al. BMC Biol, 2023 Apr 7. PMID 37024974, Free PMC Article
    5. Cellular substrates and pro-apoptotic function of the human HtrA4 protease. Wenta T, et al. J Proteomics, 2019 Oct 30. PMID 31470122

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. functions regulated by CPPED1 in trophoblasts at choriodecidual interphase have a role in the induction of term labour, but it may be independent of AKT1.
      Title: Expression of CPPED1 in human trophoblasts is associated with timing of term birth.
    2. CPPED1 is involved in glucose uptake in adipocytes
      Title: Downregulation of CPPED1 expression improves glucose metabolism in vitro in adipocytes.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11151

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables MAP kinase serine/threonine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II CTD heptapeptide repeat S2 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II CTD heptapeptide repeat S5 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II CTD heptapeptide repeat S7 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II CTD heptapeptide repeat T4 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II CTD heptapeptide repeat Y1 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calmodulin-dependent protein phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H2AXS140 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables myosin phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    serine/threonine-protein phosphatase CPPED1
    Names
    calcineurin-like phosphoesterase domain-containing protein 1
    complete S-transactivated protein 1
    NP_001092925.1
    NP_060810.2

    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_001099455.2 → NP_001092925.1  serine/threonine-protein phosphatase CPPED1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AC010333, AC092324
      Consensus CDS
      CCDS42119.1
      UniProtKB/Swiss-Prot
      Q9BRF8
      Related
      ENSP00000411127.2, ENST00000433677.6
      Conserved Domains (1) summary
      cl13995
      Location:29 → 153
      MPP_superfamily; metallophosphatase superfamily, metallophosphatase domain

    2. NM_018340.3 → NP_060810.2  serine/threonine-protein phosphatase CPPED1 isoform a

      See identical proteins and their annotated locations for NP_060810.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC010333, AC092324
      Consensus CDS
      CCDS42120.1
      UniProtKB/Swiss-Prot
      B4DQ68, Q6MZY9, Q9BRF8, Q9H9M9, Q9NUT6
      Related
      ENSP00000371193.4, ENST00000381774.9
      Conserved Domains (2) summary
      COG1409
      Location:67 → 269
      CpdA; 3',5'-cyclic AMP phosphodiesterase CpdA [Signal transduction mechanisms]
      cd07395
      Location:29 → 295
      MPP_CSTP1; Homo sapiens CSTP1 and related proteins, metallophosphatase domain

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      12659799..12803887 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      12696825..12840919 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BRF8.3 GenPept UniProtKB/Swiss-Prot:Q9BRF8

    Gene LinkOut

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

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