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Plcb1 Gene Detail
Summary
  • Symbol
    Plcb1
  • Name
    phospholipase C, beta 1
  • Synonyms
    3110043I21Rik, mKIAA0581
  • Feature Type
    protein coding gene
  • IDs
    MGI:97613
    NCBI Gene: 18795
  • Alliance
    gene page
  • Transcription Start Sites
    19 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:134628084-135317178 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 65.66 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    20163 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    4
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97613
 protein coding gene Chr2:134627987-135317178 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026554
 protein coding gene Chr2:138471801-139192121 (+)
A/J MGP_AJ_G0026518
 protein coding gene Chr2:132816492-133537385 (+)
AKR/J MGP_AKRJ_G0026492
 protein coding gene Chr2:136670997-137407672 (+)
BALB/cJ MGP_BALBcJ_G0026530
 protein coding gene Chr2:133245704-133939451 (+)
C3H/HeJ MGP_C3HHeJ_G0026273
 protein coding gene Chr2:137138934-137842558 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026975
 protein coding gene Chr2:142685985-143422996 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024352
 protein coding gene Chr2:127443696-128116848 (+)
CAST/EiJ MGP_CASTEiJ_G0025734
 protein coding gene Chr2:137459519-138176296 (+)
CBA/J MGP_CBAJ_G0026253
 protein coding gene Chr2:148002046-148777585 (+)
DBA/2J MGP_DBA2J_G0026387
 protein coding gene Chr2:132209533-132918570 (+)
FVB/NJ MGP_FVBNJ_G0026351
 protein coding gene Chr2:130827022-131516525 (+)
LP/J MGP_LPJ_G0026491
 protein coding gene Chr2:138659835-139376135 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026371
 protein coding gene Chr2:151830401-152591956 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027030
 protein coding gene Chr2:136667081-137402597 (+)
PWK/PhJ MGP_PWKPhJ_G0025470
 protein coding gene Chr2:131815134-132522102 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025272
 protein coding gene Chr2:135776256-136510572 (+)
WSB/EiJ MGP_WSBEiJ_G0025808
 protein coding gene Chr2:137599969-138328359 (+)



Homology
more
  • Human Ortholog
    PLCB1, phospholipase C beta 1
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PLCB1, phospholipase C beta 1
  • Synonyms
    DEE12, EIEE12, PI-PLC, PLC-154, PLC154, PLCB1A, PLCB1B, PLC-beta-1, PLC-I
  • Links
    NCBI Gene ID: 23236
    neXtProt AC: NX_Q9NQ66
    UniProt: Q9NQ66

  • Chr Location
    20p12.3; chr20:8077251-8968360 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Plcb1 mouse models; 2 with human PLCB1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    39 phenotypes from 3 alleles in 5 genetic backgrounds
    61 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.
Homozygotes for a targeted null mutation exhibit spontaneous seizures and high mortality around 3 weeks of age. Mutant males show exhibit sperm with a reduced acrosome reaction rate and fertilizing capacity in vitro and decreased fertility in vivo.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    119
  • GO References
    40
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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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
    898
  • Tissues
    167
  • cDNA Data
    46
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18795 NCBI Gene Model | MGI Sequence Detail 689095 C57BL/6J ±  kb
    transcript NM_019677 RefSeq | MGI Sequence Detail 7116 ZRU/MplStud  
    polypeptide Q9Z1B3 UniProt | EBI | MGI Sequence Detail 1216 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000012828 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1
      (term hierarchy)
    • EC
      3.1.4.11
    • InterPro Domains
      IPR028400 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1, EF hand motif
      IPR000008 C2 domain
      IPR035892 C2 domain superfamily
      IPR011992 EF-hand domain pair
      IPR016280 Phosphatidylinositol-4, 5-bisphosphate phosphodiesterase beta
      IPR000909 Phosphatidylinositol-specific phospholipase C, X domain
      IPR001192 Phosphoinositide phospholipase C family
      IPR014815 Phospholipase C-beta, C-terminal domain
      IPR042531 Phospholipase C-beta, C-terminal domain superfamily
      IPR001711 Phospholipase C, phosphatidylinositol-specific, Y domain
      IPR037862 PLC-beta, PH domain
      IPR017946 PLC-like phosphodiesterase, TIM beta/alpha-barrel domain superfamily
    • GlyGen
      Q9Z1B3 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 55
      cDNA 47
      Primer pair 5
      Other 3

      Microarray probesets 10
    Other
    Accession IDs
    less
    MGD-MRK-13351, MGI:1920444, MGI:2138844
    References
    more
    • Summaries
      All 145
      Developmental Gene Expression 11
      Diseases 3
      Gene Ontology 40
      Phenotypes 61
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:345835 Qiu C, et al., A single-cell time-lapse of mouse prenatal development from gastrula to birth. Nature. 2024 Feb;626(8001):1084-1093
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory