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Pkd1l1 Gene Detail
Summary
  • Symbol
    Pkd1l1
  • Name
    polycystic kidney disease 1 like 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2156538
    NCBI Gene: 171395
Location & Maps
more
  • Sequence Map
    Chr11:8826708-8973266 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      146559 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 5.57 cM, cytoband A2
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    PKD1L1, polycystin 1 like 1, transient receptor potential channel interacting
  • Vertebrate Orthologs
    7
  • Human Ortholog
    PKD1L1, polycystin 1 like 1, transient receptor potential channel interacting
    Orthology source: HomoloGene, HGNC
  • Synonyms
    PRO19563
  • Links
    NCBI Gene ID: 168507
    neXtProt AC: NX_Q8TDX9

  • Chr Location
    7p12.3; chr7:47774652-47964635 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 2 alleles in 2 genetic backgrounds
    1 phenotype from multigenic genotypes
    5 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.
  • All Mutations and Alleles
    5
  • Chemically induced (ENU)
    1
  • Gene trapped
    3
  • Targeted
    1
  • Incidental Mutations
Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia.
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
less
Sequences &
Gene Models
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  • All Sequences
  • RefSeq
  • UniProt
  • UniGene
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005143 VEGA Gene Model | MGI Sequence Detail 146559 C57BL/6J ±  kb
transcript OTTMUST00000011499 VEGA | MGI Sequence Detail 7631 Not Applicable  
polypeptide OTTMUSP00000005347 VEGA | MGI Sequence Detail 2521 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1346 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 10
    cDNA 9
    Primer pair 1
Other
Accession IDs
less
MGI:3035347
References
more
  • Summaries
    All 29
    Developmental Gene Expression 7
    Gene Ontology 6
    Phenotypes 5
  • Earliest
    J:75162 Yuasa T, et al., The Sequence, Expression, and Chromosomal Localization of a Novel Polycystic Kidney Disease 1--Like Gene, PKD1L1, in Human. Genomics. 2002 Mar;79(3):376-86
  • Latest
    J:233311 Grimes DT, et al., Genetic Analysis Reveals a Hierarchy of Interactions between Polycystin-Encoding Genes and Genes Controlling Cilia Function during Left-Right Determination. PLoS Genet. 2016 Jun;12(6):e1006070

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory