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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
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:44457494-44601369 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 16.91 cM, cytoband B3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    994 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 Chr15:44457372-44601376 (+)
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
    10
  • Human Ortholog
    PKHD1L1, PKHD1 like 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    PKHDL1
  • Links
    NCBI Gene ID: 93035
    neXtProt AC: NX_Q86WI1
    UniProt: Q86WI1

  • Chr Location
    8q23.1-q23.2; chr8:109362477-109536809 (+)  GRCh38.p7
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    8 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    5
  • GO References
    3
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
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
    77
  • Tissues
    56
  • cDNA Data
    12
  • Literature Summary
    3
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000038725 Ensembl Gene Model | MGI Sequence Detail 143876 C57BL/6J ±  kb
transcript ENSMUST00000209244 Ensembl | MGI Sequence Detail 12949 Not Applicable  
polypeptide ENSMUSP00000147447 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 31
    Developmental Gene Expression 3
    Gene Ontology 3
    Phenotypes 8
  • Earliest
    J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
  • Latest
    J:215153 Follit JA, et al., Arf4 is required for Mammalian development but dispensable for ciliary assembly. PLoS Genet. 2014 Feb;10(2):e1004170
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
10/08/2019
MGI 6.14 		The Jackson Laboratory