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GENE AND PROTEIN SUMMARY

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Gene name

PDZK1

Description

PDZ domain containing 1

Protein class

Mapped to UniProt SWISS-PROT

Protein evidence

High

Entrez gene summary

This gene encodes a PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a critical role in cholesterol metabolism by regulating the HDL receptor, scavenger receptor class B type 1. Single nucleotide polymorphisms in this gene may be associated with metabolic syndrome, and overexpression of this gene may play a role in drug resistance of multiple myeloma. Pseudogenes of this gene are located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

4 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Endoplasmic reticulum, Vesicles

Additional location(s)

 

Staining summary

Localized to the endoplasmic reticulum and vesicles.

Reliability (APE)

Medium

Antibodies in assay

HPA005755, HPA006155
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Cytoplasmic expression in many tissues, highest expression in intestine and renal tubules.

Tissue specificity

Expressed in 38 out of 81 cell types

Reliability (APE)

High

Antibodies in assay

HPA005755, HPA006155, CAB008971
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 13
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 52% of the cancers

Antibodies in assay

HPA005755, HPA006155, CAB008971
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA005755

HPA006155

CAB008971

HPA005755

HPA006155

A-431 Skin Low
WeakWeak
A-549 Lung Low
CACO-2 Colon High
HEK 293 Embryonal kidney Low
HeLa Cervix Low
Hep-G2 Liver High
MCF-7 Pleural effusion Low
PC-3 Bone marrow Low
RT-4 Urinary bladder Low
U-2 OS Bone Low
ModerateModerate
U-251 MG Brain Low
Negative

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA005755 pAb
HPA006155 pAb
CAB008971 mAb