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Pkhd1l1 Gene Detail
Summary
  • Symbol
    Pkhd1l1
  • Name
    polycystic kidney and hepatic disease 1-like 1
  • Synonyms
    D86 mRNA, fibrocystin L, PKHDL1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2183153
    NCBI Gene: 192190
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:44320890-44464765 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 15, 16.91 cM, cytoband B3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3648 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2183153
protein coding gene Chr15:44320792-44464772 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021831
protein coding gene Chr15:43075558-43223009 (+)
A/J MGP_AJ_G0021791
protein coding gene Chr15:41437701-41574123 (+)
AKR/J MGP_AKRJ_G0021772
protein coding gene Chr15:42662751-42797157 (+)
BALB/cJ MGP_BALBcJ_G0021798
protein coding gene Chr15:41515028-41649226 (+)
C3H/HeJ MGP_C3HHeJ_G0021572
protein coding gene Chr15:42575214-42716381 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022237
protein coding gene Chr15:44743415-44906632 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019774
protein coding gene Chr15:38972399-39108698 (+)
CAST/EiJ MGP_CASTEiJ_G0021089
protein coding gene Chr15:43092568-43245878 (+)
CBA/J MGP_CBAJ_G0021541
protein coding gene Chr15:46304845-46447955 (+)
DBA/2J MGP_DBA2J_G0021665
protein coding gene Chr15:41242765-41378826 (+)
FVB/NJ MGP_FVBNJ_G0021643
protein coding gene Chr15:40540317-40681182 (+)
LP/J MGP_LPJ_G0021735
protein coding gene Chr15:42843988-42988743 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0021667
protein coding gene Chr15:49678643-49858672 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022260
protein coding gene Chr15:42846771-42983371 (+)
PWK/PhJ MGP_PWKPhJ_G0020834
protein coding gene Chr15:41295360-41436761 (+)
SPRET/EiJ MGP_SPRETEiJ_G0020671
protein coding gene Chr15:42529239-42671934 (+)
WSB/EiJ MGP_WSBEiJ_G0021144
protein coding gene Chr15:42739034-42888703 (+)



Homology
more
  • Human Ortholog
    PKHD1L1, PKHD1 like 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PKHD1L1, PKHD1 like 1
  • Synonyms
    DFNB124, PKHDL1
  • Links
    NCBI Gene ID: 93035
    neXtProt AC: NX_Q86WI1
    UniProt: Q86WI1

  • Chr Location
    8q23.1-q23.2; chr8:109362461-109537207 (+)  GRCh38

Human Diseases
more
  • Diseases
    1 with human PKHD1L1 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 2 alleles in 3 genetic backgrounds
    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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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
membraneless 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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000038725 Ensembl Gene Model | MGI Sequence Detail 143876 C57BL/6J ±  kb
    transcript ENSMUST00000166957 Ensembl | MGI Sequence Detail 12747 Not Applicable  
    polypeptide ENSMUSP00000129522 Ensembl | MGI Sequence Detail 4249 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 14
      Genomic 1
      cDNA 12
      Primer pair 1

      Microarray probesets 2
    References
    more
    • Summaries
      All 36
      Developmental Gene Expression 3
      Gene Ontology 2
      Phenotypes 13
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:359106 Strelkova OS, et al., PKHD1L1 is required for stereocilia bundle maintenance, durable hearing function and resilience to noise exposure. Commun Biol. 2024 Nov 1;7(1):1423

    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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    last database update
    11/19/2024
    MGI 6.24
    The Jackson Laboratory