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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
  • Gene Overview
    MyGene.info: PLCB1
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:134786164-135475258 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 65.66 cM
  • Mapping Data
    9 experiments
  • Sequence Tag
Strain
Comparison
more
  • SNPs within 2kb
    5013 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97613
protein coding gene Chr2:134786067-135475258 (.)
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
    8
  • Human Ortholog
    PLCB1, phospholipase C beta 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    EIEE12, PI-PLC, PLC154, PLC-154, PLCB1A, PLCB1B, PLC-beta-1, PLC-I
  • Links
    NCBI Gene ID: 23236
    neXtProt AC: NX_Q9NQ66
    UniProt: Q9NQ66

  • Chr Location
    20p12.3; chr20:8132236-8884911 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Plcb1 mouse models

Human Disease Mouse Models
      
IDs
View 1 model
IDs
View 1 model
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
    24 phenotypes from 2 alleles in 4 genetic backgrounds
    48 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    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 C57BL/6  
    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
    • EC
    • InterPro Domains
      IPR028400 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1
      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
      IPR015359 Phosphoinositide-specific phospholipase C, EF-hand-like domain
      IPR009535 Phospholipase C-beta, conserved site
      IPR014815 Phospholipase C-beta, C-terminal domain
      IPR001711 Phospholipase C, phosphatidylinositol-specific, Y domain
      IPR037862 PLC-beta, PH domain
      IPR017946 PLC-like phosphodiesterase, TIM beta/alpha-barrel domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 52
      cDNA 47
      Primer pair 3
      Other 2

      Microarray probesets 10
    Other
    Accession IDs
    less
    MGD-MRK-13351, MGI:1920444, MGI:2138844
    References
    more
    • Summaries
      All 122
      Developmental Gene Expression 6
      Diseases 3
      Gene Ontology 32
      Phenotypes 48
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:257946 Shahriari Y, et al., Impaired auditory evoked potentials and oscillations in frontal and auditory cortex of a schizophrenia mouse model. World J Biol Psychiatry. 2016 Sep;17(6):439-48

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory