Pdzk1 PDZ domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pdzk1provided by MGI
Official Full Name: PDZ domain containing 1provided by MGI
Primary source: MGI:MGI:1928901
See related: Ensembl:ENSMUSG00000038298 AllianceGenome:MGI:1928901
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: Pdzd1; Nherf3; mPDZK1; NHERF-3; naPi-Cap1; D3Ertd537e; 1700023D20Rik; 2610507N21Rik; 4921513F16Rik
Summary: Predicted to enable PDZ domain binding activity; protein-membrane adaptor activity; and scavenger receptor binding activity. Involved in positive regulation of protein targeting to membrane; protein localization to plasma membrane; and regulation of monoatomic anion transport. Acts upstream of or within in utero embryonic development. Located in brush border membrane. Is expressed in several structures, including genitourinary system; liver; lung; thymus; and white fat. Orthologous to several human genes including PDZK1 (PDZ domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in kidney adult (RPKM 101.3), placenta adult (RPKM 43.2) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F2.1; 3 42.0 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (96736772..96778242)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (96829456..96870926)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

PDZK1 protects against mechanical overload-induced chondrocyte senescence and osteoarthritis by targeting mitochondrial function.
Title: PDZK1 protects against mechanical overload-induced chondrocyte senescence and osteoarthritis by targeting mitochondrial function.
Downregulation of PDZK1 by TGF-beta1 promotes renal fibrosis via inducing epithelial-mesenchymal transition of renal tubular cells.
Title: Downregulation of PDZK1 by TGF-β1 promotes renal fibrosis via inducing epithelial-mesenchymal transition of renal tubular cells.
The scaffold protein PDZK1 governs diurnal localization of CNT2 on the plasma membrane in mouse intestinal epithelial cells.
Title: The scaffold protein PDZK1 governs diurnal localization of CNT2 on the plasma membrane in mouse intestinal epithelial cells.
PDZK1 is required for anti-atherogenic responses in macrophages including HDL dependent protection against apoptosis and macrophage mediated efferocytosis and limits the accumulation of apoptotic cells within atherosclerotic plaques protecting against necrotic core development.
Title: PDZK1 in leukocytes protects against cellular apoptosis and necrotic core development in atherosclerotic plaques in high fat diet fed ldl receptor deficient mice.
Pdzk1, which plays a critical role in cholesterol metabolism and carnitine transport, was found in sperm lipid metabolism. Western blotting and immunofluorescence analyses showed that Pdzk1 was expressed in the epididymis but not in the testis, and localized at the middle piece of the sperm tail.
Title: The expression of the new epididymal luminal protein of PDZ domain containing 1 is decreased in asthenozoospermia.
NHERF2 and NHERF3 have overlapping roles in NHE3 stimulation by LPA and inhibition by elevated Ca(2+) and cGMP.
Title: Both NHERF3 and NHERF2 are necessary for multiple aspects of acute regulation of NHE3 by elevated Ca(2+), cGMP, and lysophosphatidic acid.
Dysfunction of intestinal OCTN1 in mouse model of chronic kidney disease (CKD) impaired the OCTN1-ergothioneine axis, an adaptive antioxidant system, and that decreased antioxidant ergothioneine levels may contribute to CKD progression in a PDZK1-dependent manner.
Title: Impairment of the carnitine/organic cation transporter 1-ergothioneine axis is mediated by intestinal transporter dysfunction in chronic kidney disease.
These results suggest that the PDZ domain of PICK1 directly interacts with calcineurin B in osteoclast progenitor cells and promotes osteoclast differentiation through activation of calcineurin-NFAT signaling.
Title: Binding of PICK1 PDZ domain with calcineurin B regulates osteoclast differentiation.
Inflammation-induced loss of PDZK1 expression may contribute to the NHE3 dysfunction observed in the inflamed intestine.
Title: Evidence for a causal link between adaptor protein PDZK1 downregulation and Na⁺/H⁺ exchanger NHE3 dysfunction in human and murine colitis.
PDZK1 has novel SR-BI-independent function in VSM that affords protection from neointima formation, and this involves PDZK1 suppression of VSM cell proliferation via an inhibitory interaction with Bcr
Title: PDZK1 prevents neointima formation via suppression of breakpoint cluster region kinase in vascular smooth muscle.

Submit: New GeneRIF Correction See all GeneRIFs (45)

Variation

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Alleles

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

Endonuclease-mediated (3)
Not Applicable (2) 1 citation
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125331 (e-PCR)
- UniSTS:162153

PMC141144P1 (e-PCR)
- UniSTS:270989

AI267131 (e-PCR)
- UniSTS:159152

AI132457 (e-PCR)
- UniSTS:207538

AI314638 (e-PCR)
- UniSTS:159157

AU022450 (e-PCR)
- UniSTS:167363

AW552393 (e-PCR)
- UniSTS:178891

Pdzk1 (e-PCR), detects polymorphism
- UniSTS:496620

Pdzk1 (e-PCR), detects polymorphism
- UniSTS:526833

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables PDZ domain binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables protein-membrane adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables scavenger receptor binding	ISO Inferred from Sequence Orthology more info
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein targeting to membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of monoatomic anion transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in brush border	ISO Inferred from Sequence Orthology more info
located_in brush border membrane	IDA Inferred from Direct Assay more info	PubMed
located_in microvillus membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: Na(+)/H(+) exchange regulatory cofactor NHE-RF3

Names: CFTR-associated protein of 70 kDa; Na(+)/H(+) exchanger regulatory factor 3; PDZ domain-containing protein 1; na/Pi cotransporter C-terminal-associated protein 1; sodium-hydrogen exchanger regulatory factor 3

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_001146001.2 → NP_001139473.1 Na(+)/H(+) exchange regulatory cofactor NHE-RF3

See identical proteins and their annotated locations for NP_001139473.1

Status: VALIDATED

Source sequence(s)

AF220100, AK029764, AK165415

Consensus CDS

CCDS17649.1

UniProtKB/Swiss-Prot

Q8CDP5, Q8R4G2, Q9CQ72, Q9JIL4

UniProtKB/TrEMBL

A0A0R4J1V0

Related

ENSMUSP00000102685.2, ENSMUST00000107070.8

Conserved Domains (2) summary

smart00228
Location:132 → 212

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:242 → 320

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) ...
NM_001355710.1 → NP_001342639.1 Na(+)/H(+) exchange regulatory cofactor NHE-RF3

Status: VALIDATED

Source sequence(s)

AC127297, AK014879

Consensus CDS

CCDS17649.1

UniProtKB/Swiss-Prot

Q8CDP5, Q8R4G2, Q9CQ72, Q9JIL4

UniProtKB/TrEMBL

A0A0R4J1V0

Related

ENSMUSP00000102684.2, ENSMUST00000107069.8

Conserved Domains (2) summary

smart00228
Location:132 → 212

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:242 → 320

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) ...
NM_021517.3 → NP_067492.2 Na(+)/H(+) exchange regulatory cofactor NHE-RF3

See identical proteins and their annotated locations for NP_067492.2

Status: VALIDATED

Source sequence(s)

AC127297, AK012070, AW259368

Consensus CDS

CCDS17649.1

UniProtKB/Swiss-Prot

Q8CDP5, Q8R4G2, Q9CQ72, Q9JIL4

UniProtKB/TrEMBL

A0A0R4J1V0

Related

ENSMUSP00000058936.8, ENSMUST00000058865.14

Conserved Domains (2) summary

smart00228
Location:132 → 212

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:242 → 320

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) ...

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

NC_000069.7 Reference GRCm39 C57BL/6J

Range

96736772..96778242

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017319675.2 → XP_017175164.1 Na(+)/H(+) exchange regulatory cofactor NHE-RF3 isoform X1

UniProtKB/Swiss-Prot

Q8CDP5, Q8R4G2, Q9CQ72, Q9JIL4

UniProtKB/TrEMBL

A0A0R4J1V0

Conserved Domains (2) summary

smart00228
Location:132 → 212

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:242 → 320

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) ...
XM_011240178.3 → XP_011238480.1 Na(+)/H(+) exchange regulatory cofactor NHE-RF3 isoform X1

See identical proteins and their annotated locations for XP_011238480.1

UniProtKB/Swiss-Prot

Q8CDP5, Q8R4G2, Q9CQ72, Q9JIL4

UniProtKB/TrEMBL

A0A0R4J1V0

Conserved Domains (2) summary

smart00228
Location:132 → 212

PDZ; Domain present in PSD-95, Dlg, and ZO-1/2

cd00992
Location:242 → 320

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) ...