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

Summary

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 contact site. Is expressed in several structures, including central nervous system; genitourinary system; gut; hemolymphoid system; and retina nuclear layer. Orthologous to human PDZD8 (PDZ domain containing 8). [provided by Alliance of Genome Resources, Nov 2024]
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

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_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies.
Title: PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies.
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.
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)

Endonuclease-mediated (4) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW228944 (e-PCR)
- UniSTS:181264

AV329468 (e-PCR)
- UniSTS:181265

D19Mgc7 (e-PCR)
- UniSTS:256838

BB447345 (e-PCR)
- UniSTS:209486

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	IEA Inferred from Electronic Annotation more info
involved_in cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in 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	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell morphogenesis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
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
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
located_in mitochondrion	IEA Inferred from Electronic Annotation 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)

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