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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
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:8782025-8924365 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 5.57 cM, cytoband A2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4535 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2156538
 protein coding gene Chr11:8776708-8924365 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018036
 protein coding gene Chr11:6055856-6202244 (-)
A/J MGP_AJ_G0018009
 protein coding gene Chr11:5805323-5940905 (-)
AKR/J MGP_AKRJ_G0017973
 protein coding gene Chr11:6014983-6158829 (-)
BALB/cJ MGP_BALBcJ_G0017977
 protein coding gene Chr11:5799528-5939429 (-)
C3H/HeJ MGP_C3HHeJ_G0017790
 protein coding gene Chr11:5933188-6080540 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018429
 protein coding gene Chr11:6209551-6359776 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016087
 protein coding gene Chr11:5550176-5679929 (-)
CAST/EiJ MGP_CASTEiJ_G0017352
 protein coding gene Chr11:5949127-6094041 (-)
CBA/J MGP_CBAJ_G0017765
 protein coding gene Chr11:6745298-6899811 (-)
DBA/2J MGP_DBA2J_G0017875
 protein coding gene Chr11:5744416-5879709 (-)
FVB/NJ MGP_FVBNJ_G0017867
 protein coding gene Chr11:5715120-5849280 (-)
LP/J MGP_LPJ_G0017946
 protein coding gene Chr11:6096099-6238716 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017893
 protein coding gene Chr11:6314754-6472124 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018469
 protein coding gene Chr11:6143701-6287264 (-)
PWK/PhJ MGP_PWKPhJ_G0017132
 protein coding gene Chr11:5747233-5881023 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016929
 protein coding gene Chr11:6004948-6138624 (-)
WSB/EiJ MGP_WSBEiJ_G0017406
 protein coding gene Chr11:5896832-6035001 (-)



Homology
more
  • Human Ortholog
    PKD1L1, polycystin 1 like 1, transient receptor potential channel interacting
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PKD1L1, polycystin 1 like 1, transient receptor potential channel interacting
  • Synonyms
    HTX8, PRO19563
  • Links
    NCBI Gene ID: 168507
    neXtProt AC: NX_Q8TDX9
    UniProt: Q8TDX9

  • Chr Location
    7p12.3; chr7:47740202-47960906 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human PKD1L1 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
    16 phenotypes from 2 alleles in 2 genetic backgrounds
    1 phenotype from multigenic genotypes
    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
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.
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
less
  • All GO Annotations
    18
  • GO References
    7
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
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
    717
  • Tissues
    7
  • cDNA Data
    9
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    • All Sequences
      34
    • RefSeq
      2
    • UniProt
      2
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 171395 NCBI Gene Model | MGI Sequence Detail 142341 C57BL/6J ±  kb
    transcript AK150171 GenBank | ENA | DDBJ | MGI Sequence Detail 3050 C57BL/6J  
    polypeptide Q8R526 UniProt | EBI | MGI Sequence Detail 2615 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 11
      cDNA 10
      Primer pair 1
    Other
    Accession IDs
    less
    MGI:3035347
    References
    more
    • Summaries
      All 33
      Developmental Gene Expression 8
      Gene Ontology 7
      Phenotypes 8
    • 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:344556 Whitchurch JB, et al., PKD1L1 Is Involved in Congenital Chylothorax. Cells. 2024 Jan 12;13(2)
    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
    12/17/2024
    MGI 6.24     		The Jackson Laboratory