About   Help   FAQ
Pdzk1 Gene Detail
Summary
  • Symbol
    Pdzk1
  • Name
    PDZ domain containing 1
  • Synonyms
    1700023D20Rik, 2610507N21Rik, 4921513F16Rik, D3Ertd537e, mPDZK1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1928901
    NCBI Gene: 59020
  • Gene Overview
    MyGene.info: PDZK1
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr3:96829284-96870926 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      41643 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 42.00 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    PDZK1, PDZ domain containing 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PDZK1, PDZ domain containing 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CAP70, CLAMP, NHERF3, NHERF-3, PDZD1
  • Links
    NCBI Gene ID: 5174
    neXtProt AC: NX_Q5T2W1
    UniProt: Q5T2W1

  • Chr Location
    1q21.1; chr1:145670852-145707507 (-)  GRCh38.p7
  • HomoloGene
    Vertebrate Homology Class 1964
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: PDZK1
  • Gene Tree
    Pdzk1
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    25 phenotypes from 3 alleles in 3 genetic backgrounds
    32 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.
Homozygous mutation of this gene results in increased serum cholesterol levels.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • GO References
    9
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
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
    40
  • Tissues
    29
  • cDNA Data
    14
  • Literature Summary
    6
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024711 VEGA Gene Model | MGI Sequence Detail 41643 C57BL/6J ±  kb
transcript OTTMUST00000060818 VEGA | MGI Sequence Detail 2406 Not Applicable  
polypeptide OTTMUSP00000029719 VEGA | MGI Sequence Detail 519 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    239 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 21
    Genomic 1
    cDNA 16
    Primer pair 3
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:1277210, MGI:1918104, MGI:1919393, MGI:1919470, MGI:2139658, MGI:2139665, MGI:2139848
References
more
  • Summaries
    All 72
    Developmental Gene Expression 6
    Diseases 1
    Gene Ontology 9
    Phenotypes 32
  • Earliest
    J:66318 Kocher O, et al., PDZK1, a novel PDZ domain-containing protein up-regulated in carcinomas and mapped to chromosome 1q21, interacts with cMOAT (MRP2), the multidrug resistance-associated protein. Lab Invest. 1999 Sep;79(9):1161-70
  • Latest
    J:240631 Wilson R, et al., Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice. Wellcome Open Res. 2016 Nov 15;1:1
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support. 		last database update
04/17/2018
MGI 6.11 		The Jackson Laboratory