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Pierce1 Gene Detail
Summary
  • Symbol
    Pierce1
  • Name
    piercer of microtubule wall 1
  • Synonyms
    1700007K13Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916577
    NCBI Gene: 69327
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:28352013-28356336 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 19.38 cM, cytoband A3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    36 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1916577
 protein coding gene Chr2:28352013-28356344 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025521
 protein coding gene Chr2:26521547-26525913 (-)
A/J MGP_AJ_G0025498
 protein coding gene Chr2:25520790-25525113 (-)
AKR/J MGP_AKRJ_G0025468
 protein coding gene Chr2:26361540-26365860 (-)
BALB/cJ MGP_BALBcJ_G0025494
 protein coding gene Chr2:25640323-25644650 (-)
C3H/HeJ MGP_C3HHeJ_G0025255
 protein coding gene Chr2:26283808-26288146 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025938
 protein coding gene Chr2:27422170-27426496 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023349
 protein coding gene Chr2:24324341-24328982 (-)
CAST/EiJ MGP_CASTEiJ_G0024718
 protein coding gene Chr2:26186754-26191039 (-)
CBA/J MGP_CBAJ_G0025233
 protein coding gene Chr2:28351099-28355419 (-)
DBA/2J MGP_DBA2J_G0025366
 protein coding gene Chr2:25326524-25330846 (-)
FVB/NJ MGP_FVBNJ_G0025328
 protein coding gene Chr2:25103788-25112041 (-)
LP/J MGP_LPJ_G0025452
 protein coding gene Chr2:26472286-26476639 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025359
 protein coding gene Chr2:28354853-28359184 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025997
 protein coding gene Chr2:26279423-26283740 (-)
PWK/PhJ MGP_PWKPhJ_G0024466
 protein coding gene Chr2:25133200-25137596 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024266
 protein coding gene Chr2:26411416-26415713 (-)
WSB/EiJ MGP_WSBEiJ_G0024787
 protein coding gene Chr2:26410374-26414693 (-)



Homology
more
  • Human Ortholog
    PIERCE1, piercer of microtubule wall 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PIERCE1, piercer of microtubule wall 1
  • Synonyms
    C9orf116, RbEST47
  • Links
    NCBI Gene ID: 138162
    neXtProt AC: NX_Q5BN46
    UniProt: Q5BN46

  • Chr Location
    9q34.3; chr9:135495181-135501734 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    38 phenotypes from 2 alleles in 3 genetic backgrounds
    5 phenotypes from multigenic genotypes
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit severe laterality defects, including situs inversus totalis and heterotaxy with randomized situs and left and right isomerisms. Homozygous embryos with isomerisms die in utero due to associated cardiovascular malformations.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    15
  • GO References
    6
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    728
  • Tissues
    9
  • cDNA Data
    9
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 69327 NCBI Gene Model | MGI Sequence Detail 4324 C57BL/6J ±  kb
    transcript NM_027040 RefSeq | MGI Sequence Detail 833 Not Specified  
    polypeptide Q5BN45 UniProt | EBI | MGI Sequence Detail 167 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      Genomic 2
      cDNA 10
      Primer pair 3

      Microarray probesets 3
    References
    more
    • Summaries
      All 40
      Developmental Gene Expression 4
      Gene Ontology 6
      Phenotypes 13
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:338030 Zhou L, et al., Structures of sperm flagellar doublet microtubules expand the genetic spectrum of male infertility. Cell. 2023 Jun 22;186(13):2897-2910.e19
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory