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Pdzd8 PDZ domain containing 8 [ Mus musculus (house mouse) ]

Gene ID: 107368, updated on 11-Apr-2024

Summary

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Official Symbol
Pdzd8provided by MGI
Official Full Name
PDZ domain containing 8provided by MGI
Primary source
MGI:MGI:2677270
See related
Ensembl:ENSMUSG00000074746 AllianceGenome:MGI:2677270
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Pdzk8; A630041P07Rik
Summary
Predicted to enable lipid binding activity and metal ion binding activity. Involved in mitochondrial calcium ion homeostasis and mitochondrion-endoplasmic reticulum membrane tethering. Located in endoplasmic reticulum membrane and mitochondria-associated endoplasmic reticulum membrane. Is expressed in several structures, including cardiovascular system; central nervous system; genitourinary system; gut; and retina nuclear layer. Orthologous to human PDZD8 (PDZ domain containing 8). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 15.4), ovary adult (RPKM 6.8) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
19 D3; 19 54.65 cM
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (59284516..59334212, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (59296084..59345780, complement)

Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene potassium channel, subfamily K, member 18 Neighboring gene VISTA enhancer mm447 Neighboring gene solute carrier family 18 (vesicular monoamine), member 2 Neighboring gene ribosomal protein S12, pseudogene 3 Neighboring gene predicted gene, 50440 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:59463713-59463963 Neighboring gene predicted gene, 33756 Neighboring gene VISTA enhancer mm448 Neighboring gene Emx2 opposite strand/antisense transcript, non-protein coding

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. PDZD8-deficient mice manifest behavioral abnormalities related to emotion, cognition, and adaptation due to dyslipidemia in the brain. Kurihara Y, et al. Mol Brain, 2023 Jan 19. PMID 36658656, Free PMC Article
  2. PDZD8-deficient mice accumulate cholesteryl esters in the brain as a result of impaired lipophagy. Morita K, et al. iScience, 2022 Dec 22. PMID 36465123, Free PMC Article
  3. Compartment-specific tuning of dendritic feature selectivity by intracellular Ca(2+) release. O'Hare JK, et al. Science, 2022 Mar 18. PMID 35298275, Free PMC Article
  4. PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies. Al-Amri AH, et al. Biol Psychiatry, 2022 Aug 15. PMID 35227461, Free PMC Article
  5. ER-mitochondria tethering by PDZD8 regulates Ca(2+) dynamics in mammalian neurons. Hirabayashi Y, et al. Science, 2017 Nov 3. PMID 29097544, Free PMC Article

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PDZD8-deficient mice manifest behavioral abnormalities related to emotion, cognition, and adaptation due to dyslipidemia in the brain.
    Title: PDZD8-deficient mice manifest behavioral abnormalities related to emotion, cognition, and adaptation due to dyslipidemia in the brain.
  2. PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies.
    Title: PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies.
  3. Protrudin and PDZD8 contribute to neuronal integrity by promoting lipid extraction required for endosome maturation.
    Title: Protrudin and PDZD8 contribute to neuronal integrity by promoting lipid extraction required for endosome maturation.
  4. PDZD8 represents a critical an endoplasmic reticulum -mitochondria tethering protein in metazoans.
    Title: ER-mitochondria tethering by PDZD8 regulates Ca(2+) dynamics in mammalian neurons.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables lipid binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in cytoskeleton organization ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within lipid transport IEA
Inferred from Electronic Annotation
more info
  
involved_in mitochondrial calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial calcium ion homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mitochondrial calcium ion homeostasis ISO
Inferred from Sequence Orthology
more info
  
involved_in mitochondrion-endoplasmic reticulum membrane tethering IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrion-endoplasmic reticulum membrane tethering IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mitochondrion-endoplasmic reticulum membrane tethering ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of cell morphogenesis ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in mitochondria-associated endoplasmic reticulum membrane contact site IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondria-associated endoplasmic reticulum membrane contact site IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondria-associated endoplasmic reticulum membrane contact site ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
PDZ domain-containing protein 8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001033222.3 → NP_001028394.2  PDZ domain-containing protein 8

    See identical proteins and their annotated locations for NP_001028394.2

    Status: VALIDATED

    Source sequence(s)
    AC139040, AK145020
    Consensus CDS
    CCDS29936.1
    UniProtKB/Swiss-Prot
    B9EJ80, Q3UMB1
    Related
    ENSMUSP00000096880.3, ENSMUST00000099274.4
    Conserved Domains (4) summary
    cd00029
    Location:834 → 876
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd00992
    Location:363 → 440
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cl25751
    Location:552 → 696
    DUF4045; Domain of unknown function (DUF4045)
    cl26464
    Location:445 → 631
    Atrophin-1; Atrophin-1 family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000085.7 Reference GRCm39 C57BL/6J

    Range
    59284516..59334212 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
B9EJ80.1 GenPept UniProtKB/Swiss-Prot:B9EJ80

Gene LinkOut

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