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    PIERCE1 piercer of microtubule wall 1 [ Homo sapiens (human) ]

    Gene ID: 138162, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PIERCE1provided by HGNC
    Official Full Name
    piercer of microtubule wall 1provided by HGNC
    Primary source
    HGNC:HGNC:28435
    See related
    Ensembl:ENSG00000160345 MIM:614502; AllianceGenome:HGNC:28435
    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
    RbEST47; C9orf116
    Summary
    Predicted to be involved in axoneme assembly; establishment of left/right asymmetry; and flagellated sperm motility. Predicted to act upstream of or within DNA damage response; cellular response to UV-C; and regulation of gene expression. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis (RPKM 17.0), lung (RPKM 3.3) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PIERCE1 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (135495181..135499869, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (147723256..147727947, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (138387027..138391715, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene PPP1R26 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138356815-138357468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20483 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20484 Neighboring gene protein phosphatase 1 regulatory subunit 26 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138380833-138381544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138382256-138382966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138382967-138383677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20485 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20486 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20487 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:138392753-138393377 Neighboring gene uncharacterized LOC101928525 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:138396029-138396183 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138397212-138398185 Neighboring gene mitochondrial ribosomal protein S2 Neighboring gene NANOG hESC enhancer GRCh37_chr9:138403278-138403841 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138406747-138407428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138408918-138409418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138409419-138409919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138416151-138417034 Neighboring gene lipocalin 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. The novel protein C9orf116 promotes rat liver cell line BRL-3A proliferation. Zhang C, et al. PLoS One, 2017. PMID 28749992, Free PMC Article
    2. Divergence of the PIERCE1 expression between mice and humans as a p53 target gene. Kim HJ, et al. PLoS One, 2020. PMID 32745107, Free PMC Article
    3. PIERCE1 is critical for specification of left-right asymmetry in mice. Sung YH, et al. Sci Rep, 2016 Jun 16. PMID 27305836, Free PMC Article
    4. SPACA9 is a lumenal protein of human ciliary singlet and doublet microtubules. Gui M, et al. Proc Natl Acad Sci U S A, 2022 Oct 11. PMID 36191189, Free PMC Article
    5. De novo identification of mammalian ciliary motility proteins using cryo-EM. Gui M, et al. Cell, 2021 Nov 11. PMID 34715025, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Divergence of the PIERCE1 expression between mice and humans as a p53 target gene.
      Title: Divergence of the PIERCE1 expression between mice and humans as a p53 target gene.
    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

    • FLJ13945, MGC29761, RP11-426A6.4

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in axoneme assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to UV-C IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium movement ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in determination of left/right symmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in establishment of left/right asymmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axonemal A tubule inner sheath ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in axonemal microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axonemal microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    piercer of microtubule wall 1 protein
    Names
    UPF0691 protein C9orf116
    p53-induced expression 1 in Rb-/- cells
    p53-induced expression 1 in Rba^'/a^' cells
    p53-induced expression in RB-null cells protein 1
    pierce 1

    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_001048265.2 → NP_001041730.1  piercer of microtubule wall 1 protein isoform 1

      See identical proteins and their annotated locations for NP_001041730.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI367252, AY927868, DR003074
      Consensus CDS
      CCDS43899.1
      UniProtKB/Swiss-Prot
      Q5BN46, Q5T897, Q8WU44
      Related
      ENSP00000395281.2, ENST00000429260.7
      Conserved Domains (1) summary
      pfam14892
      Location:9 → 106
      DUF4490; Domain of unknown function (DUF4490)

    2. NM_144654.3 → NP_653255.1  piercer of microtubule wall 1 protein isoform 2

      See identical proteins and their annotated locations for NP_653255.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, resulting in a frameshift and an early stop codon, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC021261
      Consensus CDS
      CCDS6989.1
      UniProtKB/Swiss-Prot
      Q5BN46
      Related
      ENSP00000360854.3, ENST00000371789.7
      Conserved Domains (1) summary
      pfam14892
      Location:9 → 76
      DUF4490; Domain of unknown function (DUF4490)

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      135495181..135499869 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      147723256..147727947 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5BN46.1 GenPept UniProtKB/Swiss-Prot:Q5BN46

    Gene LinkOut

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

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