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

Gene ID: 138162, updated on 27-Nov-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, Nov 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

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