Pdzk1
Gene Detail

Symbol Name ID

Pdzk1 PDZ domain containing 1 MGI:1928901

Synonyms

1700023D20Rik, 2610507N21Rik, 4921513F16Rik, D3Ertd537e, mPDZK1

Feature Type

protein coding gene

Genetic Map

Chromosome 3

42.00 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr3:96829284-96870926 bp, + strand From VEGA annotation of GRCm38   41643 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:1964  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Pdzk1

Human homologs

Human Homolog		PDZK1, PDZ domain containing 1
NCBI Gene ID		5174
neXtProt AC		NX_Q5T2W1
Human Synonyms		CAP70, CLAMP, NHERF3, NHERF-3, PDZD1
Human Chr (Location)		1q21; chr1:145670852-145707404 (-)  GRCh38

Alleles and phenotypes

All alleles(6) : Gene trapped(1) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 

Homozygous mutation of this gene results in increased serum cholesterol levels.

 

Gene Ontology (GO) classifications

All GO classifications: (20 annotations)

Process	carnitine transport, establishment of protein localization to plasma membrane, ...
Component	apical plasma membrane, brush border membrane, ...
Function	PDZ domain binding, protein binding, ...

External Resources: FuncBase

Expression

Literature Summary: (6 records)

Data Summary: Results (40)    Tissues (22)    Images (8)
Theiler Stages: 18, 20, 22, 23, 25, 26, 28

Assay Type	Results
RNA in situ	6
Northern blot	2
RT-PCR	32

cDNA source data(14)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(21) Genomic(1) cDNA(16) Primer pair(3) Other(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000024711 (Evidence)
Ensembl Gene Model	ENSMUSG00000038298 (Evidence)
Entrez Gene	59020 (Evidence)
NIA Mouse Gene Index	U003608
PDB	2EDZ, 3NGH, 4F8K, 2D90, 3R68, 3R69
Consensus CDS Project	CCDS17649.1
International Mouse Knockout Project Status	Pdzk1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000024711	VEGA Gene Model | MGI Sequence Detail	41643	C57BL/6J
transcript	OTTMUST00000060818	VEGA | MGI Sequence Detail	2406	Not Applicable
polypeptide	OTTMUSP00000029719	VEGA | MGI Sequence Detail	519	Not Applicable

All sequences(66) RefSeq(12) UniProt(4)

Polymorphisms

SNPs within 2kb(199 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
InterPro	IPR001478	PDZ domain
Protein Ontology	PR:000012528	Na(+)/H(+) exchange regulatory cofactor NHE-RF3

References

(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:191894 Giral H, et al., NHE3 regulatory factor 1 (NHERF1) modulates intestinal sodium-dependent phosphate transporter (NaPi-2b) expression in apical microvilli. J Biol Chem. 2012 Oct 12;287(42):35047-56
All references(61)

Other accession IDs

MGI:1277210, MGI:1918104, MGI:1919393, MGI:1919470, MGI:2139658, MGI:2139665, MGI:2139848